publicaciones internacionales indice internacional 2009-2013

Transcription

PUBLICACIONES INTERNACIONALES
INDICE INTERNACIONAL
2009-2013
AMERI CAN
CLIN ICA L REPORT
JOURNAL
OF
medical j enetics
Co-Occurrence of Hemiscrotal Agenesis With Cutis
Marmorata Telangiectatica Congenita and
Hydronephrosis Affecting the Same Side of the
Body
Jorge Rom an Corona-Rivera,1,2* Jorge Acosta-Leon,3 Miguel Angel Leon-Hernandez,4
Francisco Javier M artfnez-M acfas,2 Lucina Bobadilla-M orales,2, and Alfredo Corona-Rivera2,5
1Servicio de Genetica, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”, Guadalajara, Jalisco, Mexico
2Servicio de Cirugia Plastica, Division de Cirugia, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”, Guadalajara, Jalisco, Mexico
3Instituto de Genetica Humana “Dr. Enrique Corona-Rivera”, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara,
Guadalajara, Jalisco, Mexico
4Servicio de Urologia, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”, Guadalajara, Jalisco, Mexico
5Unidad de Citogenetica, Servicio de Hemato-Oncologia, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca”,
M an u scrip t Received: 3 0 April 20 1 3 ; M an u scrip t A ccepted: 2 9 J u ly 2 0 1 3
To our knowledge, there are nine previous reports of patients
with congenital scrotal agenesis (CSA), seven o f which were
bilateral, and unilateral in two, also named as hemiscrotal
agenesis (HSA). Here, we report a male infant with the previously
undescribed co-occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to ves
icoureteral reflux, all o f them on the left side. CMTC is a
segmental vascular malformation usually attributed to mosai
cism o f a postzygotic mutation, whereas the mechanisms in the
CSA involve a failure on the labioscrotal fold (LSF) development
due to a localized 5a-reductase deficiency and/or androgen
insensitivity. Since the skin with HSA was affected also by
CMTC and by the fact that it exhibited lack of response to the
topical testosterone treatment, all this suggests to us an androgen
insensitivity mosaicism in our patient restricted to the left LSF,
because skin with intact androgen receptors normally shows
some type of response. Since CSA and/or HSA have been also seen
in patients with PHACES, popitleal pterygium syndrome, or as
part of a recently proposed familial entity with CSA (or agenesis
of labia majora as its female counterpart), developmental delay,
visual impairment, and moderate hearing loss, further reports
could confirm this manifest genetic heterogeneity, highly evoca
tive of somatic mosaicism in our patient. ©2013W ileyPeriodicals, Inc.
K e y w o rd s: m osaicism ; co ngenital scrotal agenesis; cutis
m arm orata; hem iscrotal agenesis; hydronephrosis; vesicoureteral
reflux; androgen insensitivity; 5a-reductase; didym osis
INTRODUCTION
C ongenital scrotal agenesis (CSA) is a rare m alform atio n first
described b y W right [1993], and to o u r know ledge, there are
How to Cite th is Article:
C orona-R ivera JR, A costa-Leon J, Le6nH ern an d ez MA, M artinez-M acias FJ,
Bobadilla-M orales L, C orona-R ivera A.
2013. C o-occurrence o f hem iscrotal
agenesis w ith cutis m a rm o ra ta
telangiectatica congenita and
h ydronephrosis affecting the same side of
the body.
Am J M ed G enet P art A 9999:1-5.
only n in e rep o rted p atients w ith CSA, seven of w hich show ed
bilateral absence of scrotal reggae in the p erin eu m betw een the
penis and anus [W right, 1993; V erga and Avolio, 1996; M o n tero
et al., 2001; Janoff an d Skoog, 2005; M o h an et al., 2006; Silay
et al., 2013] and unilateral in tw o, also n am ed as hem iscrotal
agenesis (HSA) [Flum et al., 2012; Yilmaz et al., 2013]. All cases
Conflict of interest: none.
‘Correspondence to:
Jorge Roman Corona-Rivera, M.D., Ph.D., Instituto de Genetica
Humana “Dr. Enrique Corona-Rivera”, Departamento de Biologla
Molecular y Genomica, Centro Universitario de Ciencias de la Salud,
Universidad de Guadalajara, Sierra Mojada 950, Edificio P, Nivel 2, Col.
Independencia, 44340 Guadalajara, Jalisco, Mexico.
E-mail: [email protected]
Article first published online in Wiley Online Library
(wileyonlinelibrary.com): 00 Month 2013
DOI 10.1002/ajmg.a.36210
2013 Wiley Periodicals, Inc.
A J M G A -1 3 -0 3 7 5 .R 1 (3 6 2 1 0 )
REPORT
Yunis-Varon Syndrome Is Caused by Mutations
in FIG4, Encoding a Phosphoinositide Phosphatase
Philippe M. Cam peau,1,15 Guy M. Lenk,2<15 James T. Lu,3<4 Yangjin Bae,1 Lindsay Burrage,1
Peter T urnpenny,5 Jorge Roman Corona-Rivera,6,7 Lucia M orandi,8 M arina M ora,8 Heiko Reutter,9
Anneke T. Vulto-van Silfhout,10 Laurence Faivre,11,12 Eric H aan,13 Richard A. Gibbs,3
M iriam H. Meisler,2,* and Brendan H. Lee1,14,*
Yunis-Varon syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological
involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and
missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase
required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense sub
stitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of
YVS, including neurodegeneration and enlarged vacuoles in neurons. We demonstrate that Fig4-null mice also have small skeletons
with reduced trabecular bone volume and cortical thickness and that cultured osteoblasts accumulate large vacuoles. Our findings
demonstrate that homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most severe known
hum an phenotype caused by defective phosphoinositide metabolism. In contrast, in Charcot-Marie-Tooth disease type 4J (also caused
by FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral nervous system. This genotypephenotype correlation demonstrates that absence of FIG4 activity leads to central nervous system dysfunction and extensive skeletal
anomalies. Our results describe a role for PI(3,5)P2 signaling in skeletal development and maintenance.
Yunis a n d V aron first described th e sy n d ro m e th a t bears
th e ir n a m e in 1980, b ased o n th ree C o lo m b ian fam ilies
w ith a to ta l o f five affected c h ild re n .1 Since th e n , ap p ro x i
m a tely 25 indiv id u als w ith Y unis-V aron sy n d ro m e (YVS)
(MIM 216340) h av e b ee n described.2-19 F req u en t features
in c lu d e structural b ra in abnorm alities, sparse a n d pale
hair, a n d facial d ysm orphism s. Skeletal abno rm alities
in c lu d e w ide fo n tan elles w ith calvarial dysostosis, aplasia
o r h y p o p la sia o f th e clavicles a n d p h alan g es in th e h a n d s
a n d feet, a n d absence o f th u m b s a n d halluces. Pelvic b o n e
dysplasia, a b sen t sternal ossification centers, a n d fractures
are also fre q u e n t.17 N e u ro p ath o lo g y show s extensive
n e u ro n a l loss a n d diffuse a tro p h y affecting th e cerebellar
verm is, corpus callosum , basal ganglia, a n d fro n ta l lobes.
Vacuoles co m p atib le w ith en larged lysosom es are seen in
n eu ro n s, m uscle, cartilage, h eart, a n d m acro p h ag e s.17 In
th e u rine, m u ltip le a b n o rm a l oligosaccharide b a n d s appear,
suggesting a d y sfu n ctio n o f lysosom al enzym es,8,12 b u t n o
co n siste n t storage m aterial co u ld be id e n tified 12 a n d th e
enzy m e activities o f oligosaccharidases w ere n o rm a l.8
Six fam ilies affected b y Y unis-V aron sy n d ro m e w ere
in c lu d ed in th is study. T he clinical features o f th e eig h t
affected in d iv id u als are su m m arized in Table 1. Pictures
a n d rad io g rap h s o f m o st affected in d iv id u als are available
in prev io u sly p u b lish e d case rep o rts.5,7,8,18,20 T he stu d y
was c o n d u c te d acco rd in g to th e guid elin es of th e in s titu
tio n a l review b o ard of th e Baylor College o f M edicine
a n d in fo rm ed c o n s e n t w as o b ta in e d p rio r to co llectio n of
sam ples. T he in c lu sio n criterio n w as a h ig h in d e x of suspi
cio n o f Y unis-V aron sy n d ro m e b y a clinical geneticist.
F req u en t features fo u n d in th e in d iv id u als in c lu d e sparse
scalp hair, p ro tru d in g eyes, low -set ears, a h ig h arch ed
palate, a n d m ic ro g n atia (Table 1). Skeletal features in clu d e
w ide fo n tan elles a n d calvarial dysostosis, digital h y p o p la
sia, especially of th e th u m b s a n d halluces, pelvic dysplasia
w ith h ip dislocations, a n d a b s e n t or h y p o p la stic clavicles.
A ffected in d iv id u als w ere significantly h y p o to n ic a n d p re
se n ted global d ev e lo p m e n ta l delay a n d o fte n feed in g a n d
sw allow ing difficulties. C en tral n erv o u s system an o m alies
in in d iv id u als 1 a n d 2 co n sisted o f fro n ta l lobe a tro p h y
w ith pach y g y ria a n d h y p o p la sia o f th e co rp u s callosum
a n d cerebellar verm is. In in d iv id u al 3, au to p sy revealed
a n ab sen t olfacto ry b u lb a n d tract, an atypical v en tricu lar
h a m arto m a , a n d n e u ro n a l loss w ith v ac u o la tio n in layers
■'D epartm ent o f M o lecu lar a n d H u m a n G en etics, B aylor C ollege o f M edicine, H o u sto n , TX 77030, USA; 2D e p a rtm e n t o f H u m a n G enetics, U n iv e rsity of
M ich ig an , A n n A rbor, M I 4 8 1 0 9 -0 6 1 8 , USA; 3H u m a n G e n o m e S e q u e n cin g C enter, B aylor C ollege o f M edicine, H o u sto n , TX 77030, USA; 4D e p a rtm e n t
o f S tru ctu ra l a n d C o m p u ta tio n a l B iology & M o lecu lar B iophysics, Baylor C ollege o f M edicine, H o u sto n , TX 77030, USA; 5C lin ical G en etics D e p a rtm e n t,
R oyal D e v o n & E xeter H o sp ital, E xeter EX1 2ED, UK; 6G en etics service, D ivision o f Pediatrics, ''Dr. J u a n I. M en c h a ca '' N ew C ivil H osp ital of G uadalajara,
G u ad alajara, Jalisco 44 3 4 0 , M exico; 7In s titu te o f H u m a n G en etics ''Dr. E nrique C o rona-R ivera,'' C e n tro U niv ersitario d e C iencias de la Salud, U n iversity of
G u ad alajara, G u ad alajara, Jalisco 4 4 3 4 0 , M exico; 8N e u ro m u sc u la r D iseases a n d N e u ro im m u n o lo g y U nit, F o u n d a tio n IRCCS N e u rological In s titu te ''C arlo
B esta,'' M ila n 2 0 1 3 3 , Italy; 9D e p a rtm e n t o f N e o n a to lo g y a n d I n s titu te o f H u m a n G enetics, C h ild re n 's H ospital, U n iv ersity o f B o n n , B o n n 5 8 509, G erm any;
10D e p a rtm e n t o f H u m a n G enetics, R ad b o u d U n iv ersity N ijm e g e n M edical C en tre , N ijm e g e n 6525, th e N e th erla n d s; 11C e n tre de G e n etiq u e, C e n tre de
R eference M aladies Rares ''A n o m alies d u D e v e lo p p e m e n t e t S yndrom es M alfo rm atifs,'' H o p ita l d 'E n fa n ts, D ijo n 2 1 000, France; 12E quipe GAD EA4271,
U n iv ersite de B ourgogne, D ijo n 210 7 8 , France; 13S o u th A u stralian C linical G en etics Service, SA P a th o lo g y a t W o m e n 's a n d C h ild re n 's H ospital, a n d
D iscip lin e o f P aediatrics, T h e U n iv ersity o f A delaide, A delaide 5006, A ustralia; 14H o w ard H ughes M edical In stitu te , H o u sto n , TX 77030, USA
15T hese a u th o rs c o n trib u te d e q u ally to th is w o rk
"C o rre sp o n d en c e : m e islerm @ u m ich .ed u (M .H .M .), blee@ bcm .edu (B.H.L.)
h ttp ://d x .d o i.o rg /1 0 .1 0 1 6 7 j.a jh g .2 0 1 3 .0 3 .0 2 0 . © 2013 b y T h e A m erican Society o f H u m a n G enetics. All rig h ts reserved.
The American Journal of Human Genetics 92, 781-791, May 2, 2013
781
AMERI CAN
RESEARCH LETTER
JOURNAL
OF
medical genetics
Aplasia Cutis Congenita of the Scalp in a Female Infant
With Anophthalmia/Microphthalmia—Esophageal
Atresia Syndrome Negative for SOX2 Mutation
J. Rom an Corona-Rivera,1* Juan Carlos Zenteno,2 Erika Pelcastre-Luna,2 Karla Miguel-Jim enez,1
Rafael L. Aguirre-Guillen,1 J e s u s Cabral-M acfas,1 Christian Pena-Padilla,1
Lucina Bobadilla-M orales,1 and Alfredo Corona-Rivera1
1Division de Pediatria, Centro de Registro e Investigacion sobre Anomalfas Congenitas (CRIAC), Servicio de Genetica y Unidad de Citogenetica,
Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca’’ e Instituto de Genetica Humana ‘‘Dr. Enrique Corona Rivera,’’
Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
2Facultad de Medicina, Departamento de Bioqufmica, UNAM-Instituto de Oftalmologia ‘‘Conde de Valenciana,’’ Mexico, D.F., Mexico
M an u scrip t Received: 2 6 Ju n e 2 0 1 2 ; M a n u scrip t A ccepted: 12 Decem ber 2 0 1 2
TO THE EDITOR:
The term s an ophthalm ia (AO) and m icrophthalm ia (M O ) describe
the absence o f an eye and the presence o f a small eye w ithin the orbit,
respectively [Ragge et al., 2005]. The com bination o f A O /M O and
esophageal atresia (EA) is a syndrom e (AMEAS), also called as
an o p h thalm ia—esophageal—genital (AEG) syndrom e [Shah et al.,
1997], o r m icro p h th alm ia syndrom ic 3 (O M IM #206900), co n
sisting o f an A O /M O , EA w ith or w ith o u t tracheoesophageal fistula
(TEF), and urogenital anom alies in m ales [Rogers, 1988; Shah et al.,
1997]. A dditionally, patients w ith AMEAS can also display an o m a
lies at the central nervous system (CNS), craniofacial region,
vertebras, and ribs, and o n cardiovascular system [Arroyo et al.,
1992]. C urrently 23 patients w ith AMEAS have been rep o rted
[Schenk etal., 1976; Sassani and Yanoff, 1977;Rogers, 1988; A rroyo
et al., 1992; Sandler et al., 1995; U lm an et al., 1996; Shah et al., 1997;
Im aizum i et al., 1999; M enetrey et al., 2002; M essina et al., 2003;
B onneau et al., 2004; P etrackova et al., 2004; B ardakjian and
Schneider, 2005; H ill et al., 2005; M o rin i et al., 2005; K elberm an
et al., 2006; W illiam son et al., 2006; Z enteno et al., 2006; Bakrania
et al., 2007; Chassaing et al., 2007]. The heterozygous loss of
fu n ction in the coding region o f SRY (sex determ ining region
Y )-box 2 gene (SOX2) has been previously identified in 10—15%
o f p atients w ith bilateral A O /M O [W illiam son et al., 2006].
A lthough AMEAS has been included as a different p henotypic
expressions o f the SO X2 AO syndrom e [Chassaing et al., 2007;
FitzPatrick, 2009], its distinction as a separate entity seems to be
ap p ro p riate because m u ta tio n s or deletions o n the SO X2 gene are
n o t present in all o f the patients w ith AMEAS.
A plasia cutis congenita (ACC) is an area w ith absent skin
fo rm atio n characterized by w ell-circum scribed, n oninflam m ato ry
lesions, m o st com m only seen as a single lesion at the vertex o f the
scalp (O M IM % 107600). T here are m ore th a n 50 m onogenic,
chrom osom al, and teratological disorders associated w ith ACC
[Frieden, 1986]. W e describe a female in fan t w ith severe AMEAS
2013 W iley Periodicals, Inc.
C orona-R ivera JR, Z enteno JC, PelcastreL una E, M iguel-Jim enez K, A guirre-G uillen
RL, C abral-M acias J, P ena-Padilla C,
Bobadilla-M orales L, C orona-R ivera A.
2013. Aplasia cutis congenita o f the scalp
in a female in fan t w ith an o p h th alm ia/
m icro p h th alm ia—esophageal atresia
syndrom e negative for SO X2 m u tatio n .
Am J M ed G enet P art A 161A:1189—1193.
p h enotype w ho also had ACC o fth e scalp, and w ho tested negative
fo rm u ta tio n o fth e SOX2 gene. W e reviewed all previously rep o rted
p atients w ith AMEAS b u t n o n e had ACC. Thus, such a co m b in atio n
o f A CC is p ro p o sed as a new cutaneous feature in AMEAS
syndrom e.
The p ro p o sita was the p ro d u c t o f the second pregnancy o f a
healthy 18-year-old m o th e r an d a 25-year-old father. T he fam ily
history did n o t reveal any m alform ations an d there was no history
o f abortions, miscarriages, o r consanguinity. D u rin g the first
2 m o n th s o f pregnancy the m o th e r sm oked 1—5 cigarettes per
day, b u t there was n o t history o f exposure to drugs or oth er
Correspondence to:
J. Roman Corona-Rivera, M.D., Ph.D., Departamento de Biologfa
Molecular y Genomica, Instituto de Genetica Humana ‘‘Dr. Enrique
Corona-Rivera,’’ Centro Universitario de Ciencias de la Salud,
Universidad de Guadalajara, Sierra Mojada 950, Edificio P, Nivel 2, Col.
Independencia, 44340 Guadalajara, Jalisco, Mexico.
Article first published online in Wiley Online Library
(wileyonlinelibrary.com): 5 March 2013
DOI 10.1002/ajmg.a.35854
1189
Short case report 81
Confirmation of the macroblepharon, ectropion,
hypertelorism, and macrostomia syndrome
Jorge R. Corona-Riveraa,d, Lucina Bobadilla-Moralesb,d,
Alfredo Corona-Riverab,d, Rafael L. Aguirre-Guiliena, Eloy Lopez-Marurec
and Estrella L. Mellin-Sancheza
Clinical Dysmorphology 2013, 22:81-83
aDepartment of Genetics, bCytogenetic Unit, cDepartment of Radiology, Division
of Pediatrics,‘Dr. Juan I. Menchaca’ Guadalajara Civil Hospital and d‘Dr. Enrique
Corona-Rivera’ Institute of Human Genetics, Department of Molecular Biology
and Genomics, University Health Science Center, University of Guadalajara,
List of key features
M acroblepharon
E ctro pion
H y p ertelo rism
M acrostom ia
C orneal clouding
Correspondence to Jorge R. Corona-Rivera, MD, PhD, ‘Dr. Enrique CoronaRivera’ Institute of Human Genetics, Department of Molecular Biology and
Genomics, University Health Science Center, University of Guadalajara, Sierra
Mojada 950, Building P, Level 2, 44340 Guadalajara, Jalisco, Mexico
Tel/fax: +5233 10585200x33647; e-mail: [email protected]
Received 13 July 2012 Accepted 13 February 2013
follow -up, th e lagophthalm os b ecau se o f m acroblepharon
and ectro p io n p ro d u ced corneal drying, chronic co n ju n c
tivitis, k eratitis, and corneal clouding, ap p a ren t from
th e age o f 2 m o n th s. S he th e re fo re u n d e rw e n t a lateral
tarso rrh ap h y at th e age o f 14 m o n th s. T h is was com pli
c a te d by th e form ation o f syn ech iae b e tw e e n th e eyelids
and a seco n d correctiv e surgery was req u ired at th e age of
3 years (Fig. 1b).
C ase report
T h e proposita was born at te rm to a 32-year-old
prim igravid m o th er. T h e pregnancy w as co m p licated w ith
th re a te n e d abortion at th e first m o n th of g estatio n an d by
re c u rre n t urinary tra c t in fectio n s, tre a te d w ith am picillin
an d am oxicillin in th e second and th ird trim e ste rs. T h e re
was no history of exposure to know n te ra to g en s. In term s
of fam ily history, th e p are n ts w ere n onconsanguin eo u s,
healthy, and have norm al in te llig en c e. A p atern al u n cle
was born w ith a cleft lip and p alate . T h e child was born at
37 w ee k s’ g estatio n by cesarean section b ecause of fetal
d istress. B irth w eig h t was 2520 g ( < 10th cen tile) and
le n g th was 49 cm (50th c e n tile ). A pgar scores w ere 8 and
9 at 1 and 5 m in, respectively. At b irth , m acroblepharon,
ectro pion, and m acrostom ia w ere n o tic ed (Fig. 1a). O n
physical exam ination at 4 m o n th s, h e r w eig h t was 5600 g
(n in th c e n tile ), le n g th was 62 cm (2 5 -5 0 th c e n tile ), and
o ccip itofrontal circu m feren ce was 39.7 cm (n in th c e n
tile ). S he had large fontanels, broad m e to p ic su tu re,
capillary hem angiom a, m ild synophrys, hypertricho sis of
th e eyebrow s w ith lateral th ick en in g , and increased
d en s ity o f th e u p p e r eyelid eyelashes m ore m arked
laterally. In addition, th e re w ere dow nslanting palpebral
fissures, a broad nasal bridge, hypertelorism (in n er
can th al d istan ce 3.3 cm , in terp u p illary d istan c e 5.5 cm,
b o th > 9 7 th c e n tile ), m acroblepharon (palpebral fissures
le n g th 2 5 m m , > 2 S D ) , u p p e r and low er lid ectro p io n ,
posteriorly ro ta te d ears, long and sm ooth p h iltru m , and
m acrostom ia (in tercom m issural d istan c e 38 m m , > 2 SD)
w ith a th in verm illion b order to th e u p p e r lip.
S he initially show ed a m ild m otor delay, b u t m en tal
d e v e lo p m e n t was norm al at th e age o f 4 years. O n fu rth e r
0962-8827 © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins
Investigations
E chocardiogram and renal u ltra so u n d w ere norm al.
A c o m p u te d tom ography scan of th e brain show ed no
abnorm ality. T h re e -d im e n sio n a l c o m p u te d tom ography
scan o f th e craniofacial region show ed large fontanels,
broad m e to p ic su tu re, and osseous h y p ertelo rism
(Fig. 1c). C y to g en e tic analysis at th e 550-band level
show ed a 46, XX karyotype.
Discussion
V erloes and L ese n fan ts (1997) re p o rte d a Belgian girl
w ith norm al grow th and m e n tal d e v e lo p m e n t and a
previously u n d escrib ed p a tte rn o f d efe cts th a t co n sisted
o f a ro u n d and flat face, h y p ertelo rism , m acroblepharon,
ectro p io n , d o w n slan tin g p alpebral fissures, broad nasal
base, a n te v e rte d nares, sm all, posteriorly ro ta te d ears,
long and sm o o th p h iltru m , a th in u p p e r lip, m acrostom ia,
and m icrognathia. T h e au th o rs co n sid ered th a t this
p a tte rn o f d e fe c ts co rresp o n d ed to a new form of
m andibulofacial dysostosis (M F D ) w ith m acroblepharon
and m acrostom ia (O M IM 602562), th e re b y n am ed as
m acro b lep h aro n -m acro sto m ia syndrom e in th e L o n d o n
M ed ical D atab ases (W inter and Baraitser, 2006). To th e
b e s t o f our know ledge, no o th e r rep o rts have since
con firm ed th is syndrom e. As our p roposita show ed th e
u n u su al co m b in atio n o f m acroblepharon, ectro p io n ,
h y p ertelo rism , and m acrostom ia (M E H M ) in th e p re
sen ce o f norm al grow th and in te lle c tu a l d ev e lo p m e n t, it
appears to confirm th e ex iste n ce o f th e M E H M syndrom e
or V erlo e s-L e sen fan ts syndrom e. T h e p a tie n t o f Verloes
DOI: 10.1097/MCD.0b013e3283602830
Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.
GENETIC COUNSELING, Vol. 24, No 1,2013, pp 45-56
DYSGNATHIA COMPLEX SINE HOLOPROSENCEPHALY
NOR SYNOTIA: A CASE REPORT AND DISCUSSION OF ITS
NOSOLOGY
B Y J.R. CORONA-RIVERA 'A, SA . TRUJILLO -PO NCE2, E . BARRIOS-PRIETO3,
M. QUILES-CORONA K. M IG U E L -JIM E N E Z R .L . A G U IR R E -G U IL L E N L .
BOBADILLA-MORALES AND A. CORONA-RIVERA
S u m m a r y : D y sg n a th ia c o m p le x sin e h o lo p ro se n c ep h a ly n o r synotia: a c a se re p o rt a n d d iscu ssio n o f its nosology:
A sev ere m a n d ib u la r h y p o p la sia an d m ic ro sto m y w ith in trao ral an o m alies in c lu d in g h y p o g lo ssia , fu se d gum s,
p e rsiste n c e o f b u c co p h a ry n g e a l m e m b ra n e , an d lary n g eal h y p o p la sia w ere n o te d in a fem ale n e w b o rn w ith the
d y sg n ath ia c o m p le x (D C ). A d d itio n ally , o u r p ro p o sita also p re sen te d n a ta l te e th as a p ro b a b ly n e w finding. T hese
clin ic al m a n ife statio n s o v e rla p p e d w ith th o se o f th e fo u rth re p o rt o f h y p o m a n d ib u la r fa c io c ra n ial syndrom e (H F S )
(31), an d g iv e n th a t b o th la c k fo r c ra n io sy n o sto sis (p a th o g n o m o n ic o f H FS), w e c o n sid e re d th a t b o th re p re se n t a
sub ty p e o f D C p ro p o se d as D C sine h o lo p ro se n ce p h a ly n o r sy n o tia (D C S H S ). D ifferen tial c h arac te ristic s b e tw e e n the
D C S H S , th e H FS, an d th e D C w ith h o lo p ro se n ce p h a ly sine sy n o tia are re v ie w e d and additionally, w e d iscu ssed som e
asp ects a b o u t th e n o so lo g y o f th e D C .
K ey words: M an d ib u lar h y p o p la sia - M icro sto m ia - H y p o g lo ssia - G um s fu sio n - N a tal te e th - P o ly h y d ram n io s
- H y p o m a n d ib u la r fa c io c ra n ial d y so sto sis - A g n a th ia - O to c ep h a ly - D y sg n a th ia sp ec tru m - S y n o tia - M e lo tia ._____
IINTRODUCTION_____________________________
Dysgnathia is a malformative complex characterized by severe man
dibular hypoplasia or agenesis (agnathia), microstomia or astomia,
microglosia or aglossia, and a conspicuous ear anomaly (4, 11). Al
though the position of the ears has an indubitable diagnostic orienta
tion in patients with the dysgnathia complex (DC), the use of the terms
“otocephaly” or “synotia” does not seem always justified (13, 18), but
are commonly used when the ears are displaced toward the midline
(melotia) or fused in the position of the absent mandible (synotia), and
this also has led to the use of terms such as “agnathia” or “agnathiaotocephaly”, as synonyms for the “DC” (11). Patients with the DC
may have other severe malformations such as hypoplasia of zygomatic
arches, cleft lip and/or palate, choanal atresia and/or stenosis, fusion
of mandible to maxilla (syngnathia), persistence of buccopharyngeal
membrane, and other laryngo-tracheal anomalies (13, 18, 25,). In ad-
(1) Servicio de Genetica y
U nidad de Citogenetica,
D ivision de Pediatria, Hospital
Civil de Guadalajara “Dr.
Juan I. M enchaca”, HospitalEscuela, Guadalajara, Jal.,
Mexico.
(2) Servicio de Cirugia
Pediatrica, D ivision de
Pediatria, Hospital Civil de
Guadalajara “Fray Antonio
A lcalde”, Guadalajara, Jal.,
M exico.
(3) U nidad de M edicina
M aterno-Fetal, Hospital Civil
de Guadalajara “Dr. Juan I.
M enchaca”, H ospital-Escuela,
Guadalajara, Jal., M exico.
45
GENETiC COUNSELiNG, Vol. 23, No 3, 2 01 2, pp 353-357
ANGELMAN SYNDROME AND THYROID DYSFUNCTION
B Y C.E. MONTERRUBIO-LEDEZMA 1, L. BOBADILLA-MORALESu ,
H.J. PIM ENTEL-GUTIERREZ1, J.R. CORONA-RIVERA3, A. CORONA-RIVERA 12
Summary: A n g e lm a n syn d ro m e a n d th y ro id d ysfu n ctio n : A n g e lm a n sy n d ro m e (A S ) is a n e u ro g e n etic sy n d ro m e, has
a p re v a le n ce o f 1:10,000 to 1:40,000. P atien ts w ith A S h av e g en etic alteratio n s in m a te rn a l im p rin tin g g ene U B3A
(1 5 q 1 1 -q 1 3 ) an d m o le c u la r e v alu atio n s co n firm th e d iagnosis. O u r a im is to re p o rt a n e w case w ith A S and subclin ical
h y p o th y ro id ism (S C H ) w ith o u t goiter. T h y ro id d y sfu n c tio n has n o t b e en d e sc rib e d as p a rt o f alteratio n s in A S ; the
e x ac t p a th o g e n ic m e c h an ism s o f S C H in p a tie n ts w ith A S re m a in s in c o m p le te ly unknow n.
K ey-words: H y p o th y ro id ism - A n g e lm a n sy n d ro m e. _____________________________________________________________
INTRODUCTION
AS is a neurogenetic syndrome with severe mental retardation, has an
estimated prevalence of 1:10,000 to 1:40,000 (4, 9). Clinically are cha
racterized speech and developmental delay, seizures, abnormal elec
troencephalogram (EEG), singular behavior, stereotyped movements
and characteristic facies (4, 6). Proposed genetic mechanisms of AS
appearance are: 15q11.2-q13 deletion (60-75% of cases), UBE3A gene
mutations (10-15%), uniparental disomy (2-5%), mutation/impronta
center defect (2-5%), and (6, 4, 11) <1-2% of cases have structural
chromosomal abnormalities in the karyotype (4, 11), and 10-15% of
the cases remain without genetic cause (13). The diagnosis is clinical
and complemented by molecular evaluation (6) with fluorescent in situ
hybridization (FISH, detects 60-75%), DNA methylation (detects 78%
of cases) (11).
The recurrence risk is approximately 1% for de novo mutations. The
treatment is symptomatic, and may include anticonvulsants, physical
and behavior therapy, with life expectancy near to normal (11), alt
hough the cognitive development prognosis is poor (6).
The primary hypothyroidism occurs in approximately 1/4,000 births,
most of the infants are asymptomatic; thyroid-stimulating hormone
(TSH) levels in serum are an extremely sensitive indicator of this pa
thology (10). Thyroid dysfunction has not been described as part of al
terations in Angelman syndrome, however Paprocka et al. (9), reported
three confirmed patients with classical deletion, who were diagnosed
(1) Laboratorio de
Citogenetica G enotoxicidad
y Biom onitoreo, Instituto de
Genetica H um ana “Dr. Enrique
Corona Rivera”, D epartamento
de Biologia M olecuiar
y Genomica, / IICIA,
U niversidad de Guadalajara,
Guadalajara, Jalisco, Mexico.
(2) U nidad de Citogenetica,
Servicio de Hematologia
Oncologia Pediatrica, Division
de Pediatria, Nuevo Hospital
Civil de Guadalajara “Dr. Juan
I. M enchaca”, Guadalajara,
Jalisco, M exico.
(3) Servicio de Genetica,
D ivision de Pediatria, Nuevo
H ospital Civil de Guadalajara
“Dr. Juan I. M enchaca”,
Guadalajara, Jalisco, M exico.
353
232 Short case report
Agenesis of the vocal cords in a female infant with
Robin sequence
j
K
Jorge Roman Corona-Rivera ’ , Guillermo Yanowsky-Reyes ,
Lisette Arnaud-Lopeza, Lucina Bobadilla-Moralesa,d,
Rafael Luis Aguirre-Guillena,
JesUs Estiven Jasso-Bernalc,
j
K
Alfredo Corona-Rivera ’ and Oscar Aguirre-Jauregui
Clinical Dysmorphology 2011, 20:232-233
aServicio de Genetica, Division de Pediatria, Nuevo Hospital Civil de Guadalajara
‘Dr Juan I. Menchaca’, bServicios de Cirugia, cCardiologia Pediatrica, Antiguo
Hospital Civil de Guadalajara ‘Fray Antonio Alcalde’ and dInstituto de Genetica
Humana ‘Dr Enrique Corona-Rivera’, Centro Universitario de Ciencias de la
Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
List of key features
Correspondence to Dr Jorge Roman Corona-Rivera, MD, PhD, Instituto de
Genetica Humana ‘Dr Enrique Corona-Rivera’, Centro Universitario de Ciencias
de la Salud, Universidad de Guadalajara, Sierra Mojada 950, Edificio P, Nivel 2,
Col. Independencia, Guadalajara, Jalisco 44340, Mexico
Tel: +52 33 1058 5200 x7995; fax: +52 33 3617 8738;
e-mail: [email protected]
Received 29 October 2010 Accepted 12 April 2011
Fig. 1
R obin se q u en c e
C le ft palate
G lossoptosis
M icrognathia
L aryngom alacia
A genesis o f th e vocal cords
P ulm onary arterial h y p erten sio n
Clinical summary
T h e proposita, a fem ale was th e p ro d u ct of th e th ird
p regnancy o f h ea lth y p are n ts aged 18 years (m o th er) and
21 years (father) at th e tim e o f b irth . A th re a te n e d
abortion at th e th ird m o n th o f g estatio n was tre a te d by
rest and an u n sp e cifie d drug. T h e r e was no history of
ex p osure to tera to g en s and th e fam ily history was
u n rem ark ab le. T h e baby was born by norm al vaginal
delivery w eighing 3000 g. S he cried sp o ntaneously and
gradually esta b lish e d respiration afte r b irth . T h e Apgar
scores w ere n o t available. D u rin g th e first w ee k o f life,
th e m o th e r n o tic ed th a t sh e had feed in g difficulty,
respiratory problem s, a w eak and dysphonic cry an d , a
m ild stridor. S he was a d m itte d to hospital w h en sh e was
11 days old w ith increased b re a th in g difficulties. C h e st
radiograph show ed an in filtra te co n siste n t w ith aspiration
p n eum onia. C linical ex am ination at th is age show ed
(Fig. 1), a w eig h t o f 2460 g (2 5 th c e n tile ), le n g th o f 48 cm
(1 0 th c e n tile ), occipitofrontal circu m feren ce o f 33.5 cm
(25 th c e n tile ), m ild frontal hypertrichosis, slightly
elo n g ate d p h iltru m , th in u p p e r lip, sm all m o u th glossoptosis, high palate w ith a posterio r U -sh ap ed cleft, and
m icrognathia.
Investigations
O p h th alm o sco p ic ex am ination was norm al. Radiographs of
chest, spine, hands, and fee t revealed no bony abnormality.
D e s p ite gastric tu b e feeding, th e first m o n th o f h e r life
0962-8827 © 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins
General aspects of the proposita at the age of 1 month (a), note
U-shaped cleft palate (b), and micrognathia (c).
was co m p licated d u e to abnorm al su ck in g and swallowing,
bronchial aspiration, and re p e a te d p n eu m o n ia. Videofluoroscopic ex am in atio n d e m o n stra te d th a t th e oral,
pharyngeal, an d esophageal phases o f sw allow ing w ere
abnorm al and show ed trach eal aspiration w ith ev id en ce
o f gastroesophageal reflux. As re tro d isp la c e m e n t o f th e
to n g u e caused a fu n ctio n al u p p e r airway o b stru ctio n ,
a glossopexy p ro ce d u re was p erfo rm ed at 30 days o f life
b u t th e strid o r and th e respiratory d ifficu lties w ere n ot
co m p letely resolved. F ib reo p tic laryngoscopy revealed a
w idely o p en larynx w ith m ark ed ed em a, m o d e ra te salivary
pooling, an d an elo n g ate d om eg a-sh ap ed ep ig lo ttis th a t
prolapsed in to th e larynx d u rin g inspiration. T h e findings
w ere co n s iste n t w ith th e diagnosis o f laryngom alacia.
In ad d itio n , th e vocal cords w ere a b sen t an d th e arytenoid
cartilages w ere n o t ob serv ed (Fig. 2). T h e p ro ced u re also
con firm ed laryngopharyngeal reflu x b u t th e proxim al
esophagus was co n sid ered endoscopically norm al. D o p p le r
DOI: 10.1097/MCD.0b013e328347bf41
C opyright © Lippincott W illiam s & W ilkins. Unauthorized reproduction of this article is prohibited.
European Journal of Medical Genetics 54 (2011) 76—81
C o n t e n t s lists a v a ila b le at S c ie n c e D ir e c t
ill
'
European Journ al o f M edical Genetics
E L S E V IE R
jo u rn a l h o m e p a g e : h ttp ://w w w .e ls e v ie r.c o m /lo c a te /e jm g
Short report
New ocular findings in two sisters w ith Yunis—Varon syndrom e
and literature review
J. Roman Corona-Rivera a,e’*, Carmen O. Romo-Huerta b, Eloy Lopez-Marure c, Feliciano J. Ramos d,
Sara A. Estrada-Padilla e, Luz Consuelo Zepeda-Romerof
a Servicio de Genetica, Division de Pediatria, Nuevo Hospital Civil de Guadalajara "Dr. Juan I. Menchaca”, Hospital-Escuela, Guadalajara, Jalisco, Mexico
b Servicio de Oftalm o lo g a , Division de Pediatria, Nuevo Hospital Civil de Guadalajara "Dr. Juan I. Menchaca”, Hospital-Escuela, Guadalajara, Jalisco, Mexico
cServicio de Radiologa, Division de Pediatria, Nuevo Hospital Civil de Guadalajara "Dr. Juan I. Menchaca”, Hospital-Escuela, Guadalajara, Jalisco, Mexico
d Servicio de Pediatria, Hospital Clinico Universitario "Lozano Blesa”, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain
e Instituto de Genetica Humana "Dr. Enrique Corona-Rivera”, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
fServicio de Oftalmologa Pediatrica, Hospital Civil de Guadalajara "Fray Antonio Alcalde”, Guadalajara, Jalisco, Mexico
A R T I C L E
I N F O
Article history:
Received 13 May 2010
Accepted 24 Septem ber 2010
Available online 14 O ctober 2010
Keywords:
Yunis—Varon syndrom e
Cleidocranial dysostosis
Absence of the clavicles
Absent thum bs
Corpus callosum hypoplasia
Pachygyria
Chorioretinopathy
A B S T R A C T
T h e Y u n is —V a ro n s y n d r o m e (YVS) r e p r e s e n ts a ra re a u to s o m a l re c e s s iv e s y n d ro m e o f e a s y re c o g n itio n
c h a r a c te r iz e d b y c le id o c r a n e a l d y s p la s ia , a b s e n c e o f t h u m b s a n d h a llu c e s , d is ta l a p h a la n g ia , e c to d e r m a l
a n o m a lie s , a n d p o o r o u tc o m e . H e re , w e r e p o r t tw o s is te rs w ith YVS w h o a lso h a d p a p illo -m a c u la r
a tr o p h ic c h o r io r e tin o p a th y w ith “s a lt - a n d - p e p p e r ” a p p e a r a n c e t h a t c o u ld n o t b e a ttr ib u te d to e n v i
r o n m e n ta l o r m e ta b o lic c a u s e s . O u r b e s t h y p o th e s is is th a t th e o c u la r fin d in g s in o u r tw o p a tie n ts a re
p a r t o f th e p h e n o ty p ic m a n if e s ta tio n s ofY V S. W e s u g g e s t th a t a n e x te n s iv e o p h th a lm o lo g ic e x a m in a tio n
s h o u ld b e c a r rie d o u t in all c h ild r e n w ith YVS in o r d e r to d e fin e t h e fr e q u e n c y a n d n a tu r e o f t h e o c u la r
fin d in g s in th e s e p a tie n ts .
© 2 0 1 0 E lse v ie r M a s so n SAS. All rig h ts re s e rv e d .
1. Introduction
2. C linical reports
In 1980 Yunis and Varon [17] reported five infants from three
Colombian families w ho had cleidocranial dysplasia, absence of
thum bs and halluces, distal aphalangia, ectodermal anomalies, and
poor outcome. Three years later, Hughes and Partington [9]
confirmed this pattern of anomalies and proposed the eponym of
Yunis—Varon syndrome (YVS) for this rare autosomal recessive
syndrome (OMIM #216340). Up to date, 23 patients w ith YVS from
18 families have been reported [1—6,8—17]. We describe two sisters
w ith YVS which adds new ocular findings to the known features of
this syndrome and review all previous reported cases for further
clinical delineation of this entity.
2.1. Patient 1
* Corresponding a u th o r at: Clinica de A sesoram iento Genetico, Instituto de
Genetica H um ana “Dr. Enrique Corona-Rivera”, D epartam ento de Biologia M ole
cular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad de
Guadalajara, Sierra M ojada 950, Edificio P, Nivel 2, Col. Independencia, 44340
Guadalajara, Jalisco, Mexico. Tel./fax: +52 33 1058 5200x3647.
E-mail address: rocorona@ cucs.udg.mx (J.R. Corona-Rivera).
1769-7212/$ — see front m a tte r © 2010 Elsevier M asson SAS. All rights reserved.
d o i:10.1016/j.ejmg.2010.09.013
The proposita was the product of the third pregnancy of
a healthy 22-year-old m other and a 25-year-old father who were
third cousins and from Mexican origin. The first born child was
healthy and the second pregnancy was spontaneously aborted.
Pregnancy was uneventful w ith no exposure to toxic, traumatic,
infectious agents or radiation. Vaginal delivery was at the 36th
week of gestation. Apgar scores were 8 and 9 at 1 and 5 min,
respectively. Birth w eight was 2200 g (25th percentile), length
45 cm (25th percentile), and occipitofrontal circumference (OFC)
29 cm (<3rd percentile). Physical examination at 1 m onth (Fig. 1)
showed general muscular hypotonia, irritability, high pitched cry,
sparse scalp hair, large fontanelles, wide cranial sutures, sparse
eyebrows and eyelashes, hypertelorism, protruding ears, hypo
plastic ear lobes w ith cup-shaped right ear; anteverted nares, thin
upper lip, narrow-arched palate, broad secondary alveolar ridge,
labio-gingival retraction, micrognathia, loose nuchal skin, sloping
shoulders, and heart murmur. The right thum b was virtually absent
and had a hypoplastic nail, and the left was severely hypoplastic.
CLIN ICA L REPORT
AMERI CAN
JOURNAL
OF
medical genetics
Holoprosencephaly and Genitourinary Anomalies in
Fetal Methotrexate Syndrome
J. Rom an Corona-Rivera,1,2* Alejandro R e a -R o sa s,3 Adrian Santana-Ram irez,4 Jorge Acosta-Leon,5
Juan Hernandez-Rocha,3 and Karla Miguel-Jim enez1
1Servicio de Genetica, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca’’, Hospital-Escuela, Guadalajara,
Jalisco, Mexico
2Clinica de Asesoramiento Genetico (CAGUG), Instituto de Genetica Humana ‘‘Dr. Enrique Corona-Rivera’’,
3Servicio de Neurologia, Division de Pediatria, Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca’’, Hospital-Escuela, Guadalajara, Jalisco, Mexico
4Servicio de Neurocirugia, Division de Cirugia, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca’’, Hospital-Escuela, Guadalajara,
Jalisco, Mexico
5Servicio de Urologia, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca’’, Hospital-Escuela, Guadalajara,
Jalisco, Mexico
R eceived 9 Decem ber 20 0 9 ; A ccep ted 10 April 2 0 1 0
Prenatal exposure to methotrexate (MTX) in the first trimester
may lead to fetal death, and surviving children have increased risks
for cranial dysostosis, dysmorphic facies, skeletal malformations,
limb defects, growth retardation, and, in some cases, developmen
tal delay, a pattern o f defects recognized as fetal MTX syndrome
(FMS). We report on a male infant who, in addition to severe FMS,
showed previously undescribed central nervous system (CNS) and
genitourinary anomalies that contributed to the further delinea
tion. The propositus was born to a G2,20-year-old mother with an
irregular menstrual history. The unplanned pregnancy was com
plicated by oral MTX treatment (5 mg/day) for suspected systemic
lupus erythematosus for 14 days at the 5th week post-conception,
as dated by the first trimester sonogram. In addition to the typical
features o f the FMS, our propositus exhibited congenital penile
curvature, vesicoureteral reflux, hydronephrosis, and severe CNS
anomalies including semilobar holoprosencephaly (HPE). A sin
gle previous report o f lobar-type HPE in an infant with FMS led us
to confirm that the HPE observed in the propositus is a feature
attributable to MTX teratogenicity, although the exact mecha
nisms of the HPE production need to be further elucidated. Also,
this case serves to highlight the presence of genitourinary anoma
lies in patients with FMS, a fact that requires intentional searches
in future patients in order to confirm this as being characteristic of
the entity. © 2010 Wiley-Liss, Inc.
Key w ords: am in o p terin syndrom e; penile curvature; vesicoure
teral reflux; hydronephrosis; holoprosencephaly; cleft palate;
hypospadias
INTRODUCTION
M ethotrexate (M TX), a m ethyl derivate o f am inopterin , is a folic
acid antagonist widely used as an antineoplastic agent, as well as in
2010 Wiley-Liss, Inc.
C orona-R ivera JR, Rea-Rosas A, SantanaR am irez A, A costa-Le6n J, H ernandez-R ocha
J, M iguel-Jim enez K. 2010.
H oloprosencephaly an d G en ito u rin ary
A nom alies in Fetal M ethotrexate Syndrom e.
Am J M ed G enet P art A 152A:1741—1746.
the trea tm e n t o f several derm atological, rheum atologic, gyneco
logical, and obstetric conditions, including the elective m edical
term in atio n o f pregnancy [Lloyd et al., 1999]. Prenatal exposure to
M TX in the first trim ester m ay lead to fetal death, an d surviving
children have increased risks for cranial dysostosis, cerebral an o m
alies, dysm orphic facies, skeletal m alform ations, lim b defects,
grow th retard atio n , and, in som e cases, developm ental delay, a
p attern o f defects recognized as fetal M TX syndrom e (FMS), or as
am in o p terin /M T X syndrom e, how ever, am in o p terin is no longer
available [Del cam po et al., 1999; A dam et al., 2003]. The critical
p eriod for the developm ent o fth e FMS is th o u g h t to occur betw een
6 and 8 weeks after co nception [Feldkam p an d Carey, 1993;
Correspondence to:
J. Roman Corona-Rivera, M.D., Ph.D., Clinica de Asesoramiento Genetico,
Instituto de Genetica Humana ‘‘Dr. Enrique Corona-Rivera’’,
Departamento de Biologia Molecular y Genomica, Centro Universitario
de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 950,
Edificio P, Nivel 2, Col. Independencia, 44340 Guadalajara, Jalisco, Mexico.
Published online 7 June 2010 in Wiley InterScience
(www.interscience.wiley.com)
DOI 10.1002/ajmg.a.33496
1741
GENETIC COUNSELING, Vol. 20, No 2, 2009, pp 153-159
I, BARKER K.T., STOLTE-DIJKSTRA
1ANNC., COLEMAN R.J., GARRETT
1., EDGHILL E.L., HATTERSLEY A.
IR P.K., GOODWIN G„ HOULSTON
is in PTF1A cause pancreatic and ceres. Nat. Genet., 2 0 0 4 , 3 6 , 1301-1305.
I, GARRETT C„ HOULSTON R.S.: A
>r neonatal diabetes maps to chromo-pl3. Diabetes, 2 0 0 3 , 5 2 , 2636-2638.
Neonatal diabetes: new insights into
implications. Hormone Res., 2000, 53
II.
GARDNER R.J., WADSWORTH E.J.,
) M L, JAMES R.S., ROBINSOND. 0.,
TEMPLE I.K.: Aetiopathology and gef neonatal diabetes. Arch. Dis. Child,
al. Ed., 1997, 76, 39-42.
,ENDAHL K.E., HERKENHOFF H.:
ourse of neonatal diabetes. N. Engl. J.
CHROMOSOME INSTABILITY IN A PATIENT WITH
RECURRENT ABORTIONS
BYL. BOBADILLA-MORALES14, M l CERVANTES-LUNA
T.A. GARCIA-COBIAN2, B.C. GOMEZ-MEDA \ C. ORTEGA DELA TORRE
J.R. CORONA-RIVERA 1AND A. CORONA-RIVERA i4
Summary: C hrom osom e instability in a p a tie n t w ith recurrent abortions: C hrom osom al aberrations are one o f the
reco g n ized p o ssib le e tiologic genetic causes o f recurrent spontaneous abortions. Increased chrom osom e instability
w ith o u t c o n stitu tio nal chrom osom e abnorm alities is u n com m on in these couples. In this w o rk w e presen t a non
con san g u in eo u s h e alth y couple w ith recurrent abortions w ith o u t constitutional chrom osom e aberrations in w hich
sp o n tan eo u s and in d u ced chrom osom e aberrations w ere o bserved in the fem ale. C hrom osom e analysis w as p erfo rm ed
in th e presen ce o f d ifferen t chrom osom e dam age inductors such as gam m a radiation, Uv light, and m itom ycin-C .
A lteratio n s o b serv ed o n ly in the fem ale w ere: spontaneous and induced tetraradial chrom osom es and increased
ch ro m o so m al dam age induced only by gam m a radiation. O ral m ucosa m icronuclei w ere m oderately increased in the
fem ale. C h ro m o so m e in stability a ssociated to abortio'n is proposed.
Key-words: C h ro m osom e instability - R ecurrent a b o rtio n s .______________________________________________________
133,704-708.
INTRODUCTION
IRRESPONDENCE:
r.H acerY apicioglu
rersity Faculty o f M edicine
Pediatrics, D ivision o f N eonatology
58 69 26; F a x :+90 322 3 3 8 6 6 10
i@ hotm ail.com , m satar@ cu.edu.tr
It is well known that around 50% of all early pregnancy losses are
caused by chromosome abnormalities (11). Recurrent pregnancy loss
or recurrent spontaneous abortions occur in 1 to 2 % of fertile women
(6). The pathophysiological mechanism has not been well established.
Among the recognized possible etiologic causes of abortion, genetic
cause comprises single gene mutations, multifactorial inheritance, and
chromosomal aberrations according to time of gestation (18). The im
portance of chromosome abnormalities in the occurrence of sponta
neous abortions is well documented. Higher frequencies of balanced
aberrations are found when compared to the general population (20).
Couples with recurrent spontaneous abortions or infertility and without
constitutional chromosome abnormalities may show increased chro
mosome instability (20-21). This can be manifested as a significantly
greater number of single cell translocations (9), micronuclei (20), mar
ker induced chromosomal aberrations (12-20), aphidicolin-induced
common fragile sites (15), or spontaneous chromosome breakages (2021). Non constitutional spontaneous or induced chromosome aberrati
ons associated to genetic instability and abortion are infrequent. In this
work we present a non consanguineous healthy couple without con-
(1) L aboratorio de
C itogenetica G enotoxicidad
y B iom onitoreo y C llnica
de A sesoram iento G enetico,
Institute de G enetica Flum ana
“Dr. E nrique C orona R ivera”,
D epartam ento de B iologia
M olecular y G enom ica,
D ivision de D isciplinas
B asicas, C entro U niversitario
C iencias de la Salud,
U niversidad de G uadalajara,
G uadalajara, Jalisco, M exico.
(2) L aboratorio de G enetica
H um ana, D epartam ento
de Fisiologla, D ivision de
D isciplinas B asicas, C entro
U niversitario C iencias de
la Salud, U niversidad de
G uadalajara, G uadalajara,
Jalisco, M exico.
(3) Laboratorio de
M utagenesis, C entro de
Investigatio n B iom edica
de O ccidente, Institute
M exicano del Seguro Social,
G uadalajara, Jalisco, M exico.
(4) U nidad de C itogenetica,
Servicio de H em atologla
O ncologia Pediatrica, OPD
H ospital C ivil “ Dr. Juan I.
M enchaca” , G uadalajara,
Jalisco, M exico.
153
RESEARCH LETTER
A M E R I C A N
J O U R N A L
OF
medical genetics
Further Clinical Delineation of Fine-Lubinsky
Syndrome
J. Rom an Corona-Rivera,1,2* Eloy Lopez-Marure,3 Diana Garcia-Cruz,1 Carmen O. Rom o-Huerta,4
Alejandro R e a -R o sa s,5 L. Gustavo Orozco-Alatorre,2 and J. Manuel Ram i rez-Valdivia2
1Instituto de Genetica Humana ‘‘Dr. Enrique Corona-Rivera,’’ Departamento de Biologia Molecular y Genomica,
2Servicio de Genetica, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca,’’ Hospital-Escuela,
3Servicio de Radiologia, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca,’’ Hospital-Escuela, Guadalajara,
Jalisco, Mexico
4Servicio de Oftalmologia, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca,’’ Hospital-Escuela,
5Servicio de Neurologia, Division de Pediatria, Nuevo Hospital Civil de Guadalajara ‘‘Dr. Juan I. Menchaca,’’ Hospital-Escuela, Guadalajara,
Jalisco, Mexico
Received 10 N ovem ber 20 0 8 ; A ccep ted 2 5 Ja n u a ry 2 0 0 9
TO THE EDITOR:
In 1983, Fine and Lubinsky described a m ale infant w ho had
congenital hydrocephalia due to aqueductal stenosis, an absence
o f the corpus callosum , brachycephaly w ith o u t craniosynostosis,
congenital body asym m etry, severe grow th failure, and develop
m en tal delay. Ayme and Philip [1996] first coined the eponym ous
term F in e-L ubinsky syndrom e (FLS) to refer to this p attern o f
defects, also classified as brachycephaly, deafness, cataract, m icro
stom ia, an d m ental reta rd a tio n syndrom e (BDCM M RS) [O M IM
601353]. Since the initial report, there have been five additional
rep o rted non-fam ilial cases [Preus et al., 1984; Suthers et al., 1993;
Ayme and Philip, 1996; N akane et al., 2002; Schoner et al., 2008],
an d one family harboring an affected b ro th er and sister [H older
et al., 2007]. D ue to the reduced n u m b e r o f affected patients, a
clinical delineation o f FLS can n o t currently be fully elucidated. W e
rep o rt on a m ale in fan t w ith a severe phenotype o f FLS, and review
all o f the diagnostic criteria th a t can define this entity, as well as
som e aspects o f its nosology.
T he p ro p o situ s was the p ro d u c t o f the first uncom plicated
pregnancy from n o n -consanguineous and healthy parents. Family
data included three p atern al uncles w ith m ild m ental retard atio n ,
an d one m aternal cousin w ith hydrocephaly. T here was n o p rio r
history o f exposure to teratogens. Delivery was carried o u t via
cesarean in the 39th w eek o f gestation. A pgar scores were 9 at 1 and
5', respectively. The b irth w eight was 2,400 g (< 3 rd centile), the
length was 48 cm (10th centile), and the infant had an occipito
frontal circum ference (OFC) o f 32 cm (10th centile). This in fan t
experienced feeding difficulties as well as m arked hypotonia. H is
m o th e r observed th a t auditory responses to the enviro n m en t were
© 2009 Wiley-Liss, Inc.
C orona-R ivera JR, L opez-M arure E, GarciaC ruz D, R o m o -H u erta CO, Rea-Rosas A,
O rozco-A latorre LG, R am irez-V aldivia JM.
2009. F u rth er clinical delineation of
F ine-L ubinsky syndrom e.
A m J M ed G enet P art A 149A:1070-1075.
p o o r, and he also show ed visual inattentiveness. Infantile spasm s
began at age 4 m onths. Clinical exam ination at 7 m o n th s show ed
(Fig. 1) a w eight o f 5,120 g (—4.2 SD), length o f 79 cm (—1.3 SD),
OFC o f42.5 cm (—1.2 SD ),brachycephaly, p o sterio r plagiocephaly,
large an terio r fontanel, ro u n d face, w ide forehead; hypertelorism ,
m idfacial hypoplasia, beaked nose, high-arched palate, m icro g n a
thia, asym m etric right-side chest, flexion contractures o f proxim al
interphalangeal joints, adducted th u m b s, long fingers, m ild skin
syndactyly on second to fifth digits, clinodactyly an d absence o f skin
creases o n distal interphalangeal joints o f the fifth fingers, single
Correspondence to:
J. Roman Corona-Rivera, Clinica de Asesoramiento Genetico, Instituto de
Genetica Humana ‘‘Dr. Enrique Corona-Rivera,’’ Departamento de
Biologia Molecular y Genimica, Centro Universitario de Ciencias de la
Salud, Universidad de Guadalajara, Sierra Mojada 950, Edificio P, Nivel 2,
Col. Independencia, 44340 Guadalajara, Jalisco, Mexico.
Published online 22 April 2009 in Wiley InterScience
(www.interscience.wiley.com)
DOI 10.1002/ajmg.a.32780
1070
European Journal of Medical Genetics 52 (2009) 242-246
Contents lists available at ScienceDirect
European Journ al o f M edical Genetics
E L S F V IF R ,
jo u r n a l h o m e p a g e : h ttp :/ / w w w .e ls e v ie r .c o m / lo c a t e / e jm g
Short report
Abnormal oral-pharyngeal sw allow ing as cause o f m orbidity and early
death in Stuve-W iedem ann syndrom e
J. Roman Corona-Rivera *, Valerie Cormier-Daire b, Nathalie Dagoneaub, Pedro Coello-Ramirez c,
Eloy Lopez-Marure d, Carmen O. Romo-Huerta e, Hector Silva-Baezf, Liuba M. Aguirre-Salas g,
Maria Inds Estrada-Solorio h
a Servicio de Genetica, Division de Pediatria, Hospital Civil de Guadalajara ''Dr. Juan I. Menchaca’’, Guadalajara, Mexico
b Departm ent o f Genetics and INSERM U781, Hopital Necker Enfants Malades, Paris, France
cServicio de Gastroenterologia, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca’’, Guadalajara, Mexico
d Servicio de Radiologa, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca’’, Guadalajara, Mexico
e Servicio de Oftalmologa, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca’’, Guadalajara, Mexico
fServicio de Cirugia, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca’’, Guadalajara, Mexico
gServicio de Endocrinologa, Division de Pediatria, Hospital Civil de Guadalajara “Dr. Juan I. Menchaca’’, Guadalajara, Mexico
h Servicio de Diagnostico Materno-Fetal, Division de Ginecobstetricia, Hospital Civil de Guadalajara ''Dr. Juan I. Menchaca’’, Guadalajara, Mexico
1Instituto de Genetica Humana ''Dr. Enrique Corona-Rivera’’, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara,
A R T I C L E
I N F O
Article history:
Received 28 O ctober 2008
Accepted 2 April 2009
Available online 14 April 2009
Keywords:
Cam ptodactyly
Cam ptomelia
A utonom ic nervous system
Dysatonom ia
Swallowing dysfunction
Leukoma
Prenatal diagnosis
LIFR
Stuve-W iedem ann syndrom e
A B S T R A C T
S tu v e - W ie d e m a n n s y n d r o m e (SW S) is a n a u to s o m a l re c e s s iv e b o n e d y s p la s ia (O M IM # 6 0 1 5 5 9 ) c h a r
a c te r iz e d b y b o w in g o f lo n g b o n e s , c a m p to d a c ty ly , re s p ir a to r y in su ffic ie n c y , h y p e r th e r m ic e p is o d e s , a n d
n e o n a t a l d e a t h fr o m h y p e r th e r m ia o r a p n e a . W e d e s c rib e tw o f e m a le s ib lin g s w ith SW S b o r n fr o m
c o n s a n g u in e o u s G y p sy p a r e n ts . F or a f u r th e r d e lin e a tio n o f SW S, w e r e p o r t h y p o th y ro id is m a n d e c to p ic
th y ro id a s p a r t o f its p h e n o ty p ic s p e c tru m . M o le c u la r s tu d y in th e le u k e m ia in h ib ito r y fa c to r re c e p to r
(LIFR) g e n e (O M IM *151 4 4 3 ) d e m o n s t r a te d t h e p r e s e n c e o f a m u ta tio n . W e o b s e r v e d t h a t in o n e o f o u r
p a tie n ts , o r o p h a r y n g e a l d is r u p tio n in th e s w a llo w in g p ro c e s s c a u s e d re p e titiv e a s p ir a tio n p n e u m o n ia s ,
lif e - th r e a te n in g e v e n ts , a n d fin a lly d e a th . W e e m p h a s iz e t h a t th e s e fe a tu re s r e p r e s e n t d y s a u to n o m ic
m a n if e s ta tio n s o f SW S, a n d a re p ro b a b ly r e la te d to p h a r y n g o e s o p h a g e a l d y s k in e s ia d u e to a b n o r m a l
a u to n o m ic c o n tr o l o f th e a n te r io r ra m i o f c e rv ic a l ro o ts C 1-C 5.
© 2 0 0 9 E lse v ie r M a s so n SAS. All rig h ts re s e rv e d .
1. Introduction
Stuve-Wiedemann syndrome (SWS) is usually described as an
autosomal recessive bone dysplasia (OMIM #601559) characterized
by bowing of long bones, camptodactyly, respiratory insufficiency,
hyperthermic episodes, and neonatal death caused by hyperthermia
or apnea [1,4,9,13,15,17]. SWS is allelic to Schwartz-Jampel type 2
syndrome (SJS2) [4,17] and is recognized as an autonomic dysfunc
tion syndrome [3,9]. Manifestations of bone dysplasia in SWS/SJS2
* Corresponding author. Instituto de Genetica Humana ‘‘Dr. Enrique Corona-Rivera'',
D epartam ento de Biologia M oleculary Genomica, Centro Universitario de Ciencias de la
Salud, Universidad de Guadalajara, Sierra Mojada 950, Edificio P, Nivel 2, Col.
Independencia, 44340, Guadalajara, Jalisco, Mexico. Tel./fax: +33 10585200x3647.
E-mail address: rocorona@ cucs.udg.mx (J.R. Corona-Rivera).
1769-7212/$ - see fro n t m a tte r © 2009 Elsevier M asson SAS. All rights reserved.
doi:10.1016/j.ejmg.2009.04.001
have been attributed to mutations in the leukemia inhibitory factor
receptor (LIFR) gene located on 5p13.1 [7]. Recently, the ciliary
neurotrophic factor receptor (CNTFR) gene (OMIM *118946) was
identified as responsible for a couple of syndromes w ith autonomic
nervous system dysfunction [8]. The SWS/SJS2 are included in
the family of CNTFR pathway-related disorders, and show over
lapping phenotypes w ith the Crisponi and cold-induced sweating
syndromes [6]. We describe a pair of sisters with SWS born from
consanguineous Gypsy parents, w ith emphasis on the clinical role of
dysautonomia as a cause of morbidity leading to an early death in
this disease. Additionally, we propose hypothyroidism and ectopic
thyroid as new findings in the SWS phenotypic spectrum. Molecular
studies in one of our patients dem onstrated a m utation in the
LIFR gene, which predicted a prem ature term ination of protein
translation.
Fetal and Pediatric Pathology, 28:101—108, 2009
Copyright © Inform a H ealthcare U S A , Inc.
ISSN: 1551-3815 p rin t / 1551-3823 online
DOI: 10.1080/15513810902772524
IrifO rfflc l
healthcare
UMBILICAL CORD DISRUPTION SEQUENCE CAUSED BY LONG
CORD IN TWO UNRELATED INFANTS WITH AMYOPLASIA
J. Roman Corona-Rivera, Diana Garcia-Cruz, and Sara A. Estrada-Padilla
□
Downloaded
By:
[[email protected]] At:
17:40
13 April
2009
Genetic Counseling Clinic, Dr. E nrique Corona-Rivera Institute o f H u m a n Genetics,
Department o f M olecular Biology a nd Genomics, University o f G uadalajara H ealth Sciences
Center, G uadalajara, Jalisco, Mexico
J. JesUs Perez-Molina and Marco A. Villafuerte-Bautista □ Service o f Genetics,
D ivision o f Pediatrics, Dr. J u a n I. M enchaca Civil H ospital o f G uadalajara, Guadalajara,
Jalisco, Meexico
Geronimo Tavares-Macias □ D ivision o f Pathology, Dr. J u a n I. M enchaca Civil
H ospital o f Guadalajara, Guadalajara, Jalisco, Mexico
J. Jose Cardenas-Rulz-Velasco
□ Service o f Surgery, D ivision o f Pediatrics, Dr. J u a n
I. M enchaca Civil H ospital o f Guadalajara, Guadalajara, Jalisco, Mexico
□ Encirclement of a fetal body part by the umbilical cord with or without vascular obstruction
in either the umbilical cord or the encircled fetal part is considered an umbilical cord loop (UCL).
Significant disruption of the encircled fetal parts is recognized as the umbilical cord disruption
sequence (UCDS). UCL around fetal parts is an occasional anomaly in infants with amyoplasia.
We report on 2 patients with amyoplasia and damage to the fetal limbs caused by UCDS and
a long umbilical cord. Patient 1 showed two deep constrictions on the left lower limb caused by
UCL with an intact skin and a mild mark of constriction on the left wrist. The umbilical cord in
patient 2 produced 5 entanglements around the left thigh which resulted in a deep groove extending
down to the femur and also showed an exposed fracture and gangrene o f the entire lower limb with
an unusual congenital paraumbilical “stoma” that corresponded to the afferent loops o f a jejunal
atresia. The UCDS in infants with amyoplasia has been associated with short umbilical cords,
whereas in patients without congenital contractures, the UCDS or UCL has been related to long
umbilical cords. Our observations of UCDS in patients with amyoplasia but with long umbilical
cords suggest the influence of both pathogenic factors or the existence of additional mechanisms.
Evidence in patient 2 may support a vascular pathogenesis.
We are indeb ted to Dr. T.P.K. Reddy who m eticulously h elp ed to review the docum ent.
This work was supported by CONACYT (Mexico) G rant M- 52045.
Address correspondence to J. R om an Corona-Rivera, MD, PhD, Clinica de Asesoram iento
Instituto de G enetica H um ana “Dr. E nrique Corona-Rivera”, D epartam ento de Biologia
Genomica, C entro Universitario de Ciencias de la Salud, U niversidad de Guadalajara,
950, Edificio P, Nivel 2, Col. Independencia, C.P. 44340, Guadalajara, Jalisco, Mexico.
cucs.udg.mx
101
PUBLICACIONES NACIONALES
2009-2013
CASO CLINICO
G a ceta M ed ica d e M exico. 2 0 1 3 ;1 4 9 :4 4 8 -5 3
Ataxia telangiectasia. Diagnostico y seguimiento
en una serie de cuatro casos
Cesar Eduardo Monterrubio Ledezm a1’6, Alfredo Corona Rivera12’6, Jorge Roman Corona Rivera3’6,
Lourdes Jocelyn Rodriguez Casillas1, Juan Hernandez Rocha4, Patricio Barros Nunez 56
y Lucina Bobadilla M orales126*
1Laboratorio de Citogenetica, Genotoxicidad y Biomonitoreo, Instituto de Genetica Humana Dr. Enrique Corona Rivera, Departamento de
Biologi'a Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara; 2Unidad de Citogenetica,
Servicio de Hematologi'a Oncologi'a Pediatrica; 3Servicio de Genetica; 4Neuropediatri'a de la Division de Pediatria, Hospital Civil Nuevo
Juan I, Menchaca, OPD; 5Division de Genetica, Centro de Investigacion Biomedica de Occidente, IMSS; 6Doctorado en Genetica Humana,
Departamento de Biologi'a Molecular y Genomica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Jal.
Resumen
La ataxia telangiectasia (AT) es un sfndrome de inestabilidad cromos6mica’ con herencia autosomica recesiva, causada
por mas de 500 mutaciones en el gen ATM, involucrado en la respuesta celular ante el dano al ADN. Su diagnostico
llega a ser diffcil debido a la evolucion de la enfermedad, su pobre conocimiento y limitado acceso a pruebas
diagnosticas. La prueba de dano cromosomico inducido con radiacion ionizante (RI) sigue siendo un metodo sensible
para un diagnostico temprano; este ultimo es indispensable para un mejor manejo y asesoramiento genetico. El
presente trabajo muestra el diagnostico y seguimiento de una serie de cuatro casos con AT.
PALABRAS CLAVES:
Ataxia telangiectasia. Inestabilidad cromosomica. Dano cromosomico inducido por RI.
Abstract
Ataxia telangiectasia (AT) is a chromosomal instability syndrome with autosomal recessive inheritance, it is caused by more
than 500 mutations of the ATM gene, which is involved in the cellular response to DNA damage. The diagnosis becomes
difficult due to the evolution of the disease, their poor knowledge, and limited access to diagnostic tests. Chromosomal
damage induced by ionizing radiation (IR) assay is still a sensitive method for early diagnosis, and it is essential for
better management and genetic counseling. This paper shows diagnosis and follow-up in four cases with AT.
KEY WORDS:
Ataxia telangiectasia. Chromosomal instability. RI-induced chromosomal damage.
I ntroduccion
Ataxia telangiectasia es una enfermedad autosomica
recesiva, causada por mutaciones en el gen ATM (ataxia
C o rre sp o n d e n cia:
*Lucina Bobadilla-Morales
Laboratorio de Citogenetica, Genotoxicidad y Biomonitoreo
y Clinica de Asesoramiento Genetico
Instituto de Genetica Humana Dr. Enrique Corona Rivera
Departamento de Biologia Molecular y Genomica
Division de Disciplinas Basicas
Centro Universitario Ciencias de la Salud
Universidad de Guadalajara
Sierra Mojada, 950, S.L., Edif. P, segundo nivel
C.P. 44340, Guadalajara, Jal.
448
telangiectasia mutated, 11q22.3) (OMIM #208900), mas
de 500 mutaciones han sido descritas1 y se caracteriza
por inestabilidad cromosomica, hipersensibilidad a
RI1,2, inmunodeficiencia celular y humoral3, y susceptibilidad a cancer (40% de los casos, de tipo linforreticulares y/o epitelial)4,5. Cltnicamente presenta neurodegeneracion con marcha ataxica progresiva y otros
desordenes de movimiento; disartria, retardo mental,
apraxia ocular, telangiectasias, inmunodeficiencia e
infecciones frecuentes4,6; elevacion de a-fetoprotetna,
hipersensibilidad cutanea a la luz, hipoplasia/ausencia
de timo e infecciones recurrentes3. Actualmente no
existe cura para esta enfermedad, por tanto el objetivo
es realizar un diagnostico temprano y mantener una
Fecha de recepcion: 01-07-2013
Fecha de aceptacion: 11-07-2013
CARTA AL EDITOR
G a ceta M ed ica d e M exico. 2 0 1 2 ;1 4 8 :4 1 9 -2 0
Sfndrome de Yunis-Varon
Jorge Roman Corona Rivera1*
1Servicio de Genetica, Division de Pediatri'a, Hospital Civil de Guadalajara «Dr. Juan I. Menchaca» y Centro de Registro e Investigacion
sobre Anomali'as Congenitas (CRIAC), Instituto de Genetica Humana «Dr. Enrique Corona Rivera», Centro Universitario de Ciencias de la
Salud, Universidad de Guadalajara, Guadalajara, Jal.
Carta al editor:
Let con interes el artfculo publicado por ElizondoDuenaz, et al.1 titulado: «Sfndrome de Yunis-Varon»;
donde los autores presentan a un paciente masculino
de 17 anos con estatura baja, ojos prominentes, hipertelorismo, dedos deformados, problemas de pronunciacion, hombros encogidos, prominencia del hueso
frontal, orejas displasicas, hundimiento del puente
nasal, de los margenes infraorbitarios, ausencia de
piezas dentarias, paladar ojival y micrognatia. Radiologicamente, demostraron multiples dientes sin brotar,
ausencia de piezas dentarias permanentes e hipoplasia clavicular. Sin embargo, de manera respetuosa,
considero que los datos clinicorradiograficos anteriormente asentados por Elizondo-Duenaz, et al.1 no son
suficientes para sustentar el diagnostico de sfndrome
Yunis-Varon (SYV), sobre todo por la descripcion que
hacen de las extremidades de su paciente. El SYV es
una displasia cleidocraneal plus (OMIM %216340),
siendo el componente plus la ausencia de pulgares y
primeros ortejos, afalangia distal, anomalfas ectodermicas y un reservado pronostico de vida. El SYV fue
descrito originalm ente en Colom bia y se conocen
25 pacientes publicados a nivel mundial2. En una revi
sion reciente3, encontramos que el SYV tiene un componente esqueletico sistemico obligado, ya que el
100% de los casos estudiados radiograficamente presentan ausencia o hipoplasia de falanges distales,
tanto en manos como en pies, y en el 95% de ellos,
hipoplasia severa o ausencia de los pulgares y/o prime
ros ortejos y, ademas, la afectacion esqueletica incluye
la disostosis craneal y de clavfculas, displasia de pelvis,
junto a las anomalfas acrales previamente mencionadas.
El SYV tambien afecta frecuentemente al corazon y al
sistema nervioso central, y se conocen solo pocos
sobrevivientes a la infancia temprana, algunos de ellos
con retraso psicomotor. Ya que el paciente publicado
por Elizondo-Duenaz, et al.1 no presenta el componente plus caracterfstico del SYV, considero que el caso
presentado corresponde mas apropiadamente a una
presentacion tfpica de una displasia o disostosis clei
docraneal, entidad cuya etiologfa es autosomica dominante y cuyo pronostico para la vida y la funcion son
generalmente favorables, sobre todo si lo comparamos
con el SYV, cuya herencia es autosomica recesiva y
que tiene un muy diferente pronostico y asesoramiento
genetico. Al dfa de hoy no se ha identificado el gen
responsable del SYV, aunque seguramente sera encontrado en un futuro proximo mediante tecnicas actuales
como el analisis de secuenciacion exomica. Por el
contrario, el gen RUNX2 ha sido recientemente identificado como responsable de la displasia cleidocraneal
(OMIM #119600).
Bibiiograffa
1. Elizondo-Duenaz R, Rivera-Silva G, Marcos-Abdala H, Lopez-Altamirano
M, Martfnez-Menchaca HR. Sfndrome de Yunis-Varon. Gac Med Mex.
2012;148:81-2.
2. Yunis E, Varon H. Cleidocranial dysostosis, severe micrognathism, bilat
eral absence of thumbs and first metatarsal bone, and distal aphalangia:
a new genetic syndrome. Am J Dis Child. 1980;134:649-53.
3. Corona-Rivera JR, Romo-Huerta CO, Lopez-Marure E, Ramos FJ, Estrada-Padilla SA, Zepeda-Romero LC. New ocular findings in two sisters
with Yunis-Varon syndrome and literature review. Eur J Med Genet.
2011;54:76-81.
C o rre sp o n d e n cia:
Jo rg e Roman Corona Rivera
Centro de Registro e Investigacion sobre Anomalfas Congenitas
(CRIAC)
Instituto de Genetica Humana Dr. Enrique Corona Rivera
Centro Universitario de Ciencias de la Salud
Sierra Mojada, 950, Edificio P, Nivel 2
Col. Independencia, C.P. 44340, Guadalajara, Jal.
Fecha de recepcion de la carta: 14-06-2012
Fecha de aceptacion de la respuesta: 22-06-2012
419
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2009-2013
CASE REPORTS
archivos de c i e n
/ REPORTES DE CASO
C A S E
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v o l
.
3,
n o
. 4,
2011
R E P O R T S
Apoyo nutricio intensivo en trillizas monocigoticas
de nueve meses de edad con desnutricion grave
discordantes para amioplasia de miembros superiores
E V a sq u e z-G a rib a y 1,2, JR C o ro n a-R ive ra3'4, LX R od rig u ez-R o ja s5, G M arq u ez-P ad illa1, MI Ib arra-G u tierrez1,
O R am ire z-M a g a n a 1, E R om ero-V elarde1,2
Objetivo. Reportar el caso de unas trillizas del sexo femenino con desnutricion protefnico-energetica grave que
caracteriza una velocidad de crecimiento y cambios en la composition corporal casi identicos despues de un apoyo
nutricio intensivo de seis semanas. Description del caso clfnico. El diagnostico de cigocidad realizado mediante
analisis de repeticiones cortas en tandem (STR), amplificadas mediante PCR-multiplex mostro que las trillizas
provenfan de un mismo huevo fertilizado (monocigoticas). Como hallazgo inusual se encontro que la segunda trilliza fue discordante para amioplasia con afectacion principal de miembros superiores, lo apoya mayormente el que
esta condition no esta geneticamente determinada. Discusion. Se analiza la manera sorprendente de recuperation
nutricia casi identica de una desnutricion protefnico-energetica grave en el mismo periodo de tiempo y la presencia
de amioplasia en la segunda trilliza.
IN TR O D U C C IO N
a amioplasia o artrogriposis multiple congenita es una entidad
de etiolog^a multifactorial con ocurrencia usualmente esporadica y bajo riesgo de recurrencia, caracterizada p or contracturas
articulares congenitas multiples y perdida de masa muscular, aunque tambien se reconoce un subtipo con afectacion principal de
extremidades superiores [1]. La identification de gemelos monocigoticos discordantes para amioplasia va en sustento de su caracter esporadico y multifactorial [1-5]. El presente reporte clmico
agrega la ocurrencia inusual de discordancia para amioplasia pero
en trillizas monocigoticas, lo que mayormente apoya la no tio n de
que esta condicion espetifica no esta geneticamente determina
da. Pocos estudios han informado acerca de la presencia de des-
L
Affiliations:
1 Instituto de Nutricion Hum ana, Centro Universitario de Ciencias de la Salud, Uni
versidad de Guadalajara, Guadalajara, Jalisco, Mexico.
Servicios de N utricion a n d 3 Genetica, Division de Pediatria, Hospital Civil de G uada
lajara "Dr. Juan I. Menchaca”, Guadalajara, Jalisco, Mexico.
4Instituto de Genetica H um ana "Dr. Enrique Corona-Rivera”, Departamento de Bi
ologia M oleculary Genomica, Centro Universitario de Ciencias de la Salud, Universi
dad de Guadalajara, Guadalajara, Jalisco, Mexico
5Genomas-Genetic Investigation Center, Zapopan, Jalisco, Mexico.
Address reprint request to: Edgar M . Vasquez-Garibay
M D : Instituto de Nutricion H umana, Hospital Civil de Guadalajara "Dr. Juan I.
Menchaca”, Salvador Quevedo y Zubieta 750, Sector Libertad, Guadalajara, Jalisco,
Mexico. C.P. 44340. Phone and fa x: +52 (33) 3618 9667.
Potential conflict o f interest: N othing to report
Palabras clave: trillizas, desnutricion grave, amioplasia, artrogriposis multiple congenita.
Key words: monozygotic triplets, severe malnutrition, amyoplasia, arthrogryposis mul
tiplex congenital.
304
nutricion protemico-energetica primaria ( d p e ) grave de manera
simultanea en miembros de un grupo de trillizos. En un estudio
solo un nino procedente de trillizos[6] presentaba desnutricion
grave y en otro no se especifica claramente si los trillizos presentaban desnutricion al mismo tiem po[7]. Sin embargo, no encontramos algun estudio que mencione el periodo de recuperation nu
tricia o la gravedad de la desnutricion de un grupo de trillizos de
manera simultanea. El proceso de recuperation de una d p e grave
en lactantes difiere de la observada en ninos mayores (preescolares y escolares), debido a que normalmente la velocidad de cre
cimiento es mayor y los cambios de composicion corporal son
mas rapidos [8]. Sin embargo, no tenemos experiencia de que tan
similares pueden ser esos cambios en lactantes trillizas, considerando los cambios rapidos que ocurren en la composicion corpo
ral durante el segundo semestre de la vida.
D E S C R IP C IO N DEE CASO C U N IC O
Informamos sobre unas trillizas producto de un segundo embarazo y concebidas de manera espontanea. Al momento de su
nacimiento, la madre tema 18 anos y el padre 20 anos, ambos
son sanos y no consangumeos. La madre presento historia de
tabaquismo con consumo de un cigarro por d^a y nego otras exposiciones a agentes teratogenos. La g e n e a k ^ a mostro historia
familiar negativa para malformaciones y /o gemelaridad. El embarazo curso con amenaza de aborto al cuarto mes, sin recibir tratamiento farmacologico. Posteriormente, presento amenaza de
parto preterm ino seguida de ruptura prem atura de membranas y
desarrollo de trabajo de parto prematuro que llevo al nacimiento
PIPS one
OPEN 3 ACCESS Freely available online
National Prevalence and Trends of HIV Transmitted Drug
Resistance in Mexico
Santiago Avila-Rios1, Claudia Garcia-Morales1, Daniela Garrido-Rodriguez1, Christopher E. Ormsby1,
Ramon Hern^ndez-Juan1, Jaime Andrade-Villanueva2,3, Luz A. Gonzalez-Hernandez2,3, Indiana TorresEscobar4,5, Samuel Navarro-Alvarez6, Gustavo Reyes-Teran1*, For the Mexican HIV Molecular
Epidemiology Project Group"
1 C e n tro d e Inve stig a cion en E nfe rm e d ad e s Infecciosas, In stitu to N a cio n a l d e E nfe rm e d ad e s R espiratorias, M e x ic o City, M e xico , 2 U n id a d d e VIH/SIDA, H o sp ita l C iv il d e
G u adalajara Fray A n to n io A lca ld e , G uadalajara, Jalisco, M e xico , 3 U n ive rsid a d d e G uadalajara, G uadalajara, Jalisco, M e xico , 4 H o sp ita l G e n e ra l d e P uebla, P uebla, Puebla,
M e xico , 5 Facultad d e M e d icin a , B e n e m e rita U nive rsid a d A u to n o m a d e P uebla, Puebla, Puebla, M e xico , 6 H o sp ita l G e n e ra l d e Tijuana, Tijuana, Baja C a lifo rn ia , M e x ic o
Abstract
Background: Transmitted drug resistance (TDR) remains an important concern for the management of HIV infection,
especially in countries that have recently scaled-up antiretroviral treatment (ART) access.
Methodology/Principal Findings:
We designed a study to assess HIV diversity and transmitted drug resistance (TDR)
prevalence and trends in Mexico. 1655 ART-naive patients from 12 Mexican states were enrolled from 2005 to 2010. TDR was
assessed from plasma HIV pol sequences using Stanford scores and the WHO TDR surveillance mutation list. TDR prevalence
fluctuations over back-projected dates of infection were tested. HIV subtype B was highly prevalent in Mexico (99.9%). TDR
prevalence (Stanford score>15) in the country for the study period was 7.4% (95% CI, 6.2:8.8) and 6.8% (95% CI, 5.7:8.2)
based on the WHO TDR surveillance mutation list. NRTI TDR was the highest (4.2%), followed by NNRTI (2.5%) and PI (1.7%)
TDR. Increasing trends for NNRTI (p = 0.0456) and PI (p = 0.0061) major TDR mutations were observed at the national level.
Clustering of viruses containing minor TDR mutations was observed with some apparent transmission pairs and
geographical effects.
Conclusions: TDR prevalence in Mexico remains at the intermediate level and is slightly lower than that observed in
industrialized countries. Whether regional variations in TDR trends are associated with differences in antiretroviral drug
usage/ART efficacy or with local features of viral evolution remains to be further addressed.
C itatio n : Avila -R io s S, G a rcia-M o rale s C, G a rrid o -R o d n g u e z D, O rm sb y CE, H ern a n d e z-Ju a n R, e t al. (2011) N a tio n a l P re va le n ce and T re nd s o f HIV Tra n sm itte d
D ru g R esistance in M exico . PLoS O N E 6(11): e27812. doi:10.13 71 /jo urnal.p o ne.0 0 27 81 2
E d ito r: L u w e n Z h a ng , U n ive rsity o f N ebraska - Lin co ln , U n ite d States o f A m e rica
R eceived J u n e 29, 2011; A ccep ted O c to b e r 25, 2011; P u b lish e d N o v e m b e r 15, 2011
C o p yrig h t: © 2011 A vila -R io s e t al. Th is is an o p en -acce ss a rtic le d is trib u te d u n d e r th e te rm s o f th e C re ativ e C o m m o n s A ttrib u tio n License, w h ic h p erm its
u n re stricte d use, d istrib u tio n , and re p ro d u c tio n in a n y m e d iu m , p ro v id e d th e o rig in a l a u th o r and so u rce are cred ited .
F u n d in g : T h is w o rk w as s u p p o rte d b y g ran ts fro m th e M e xica n G o v e rn m e n t (C o m is io n d e E q uid a d y G e n e ro d e la H. C am ara d e D ip u tad o s), Institu to d e C ie ncia
y T e c n o lo g ia d e l D istrito Fed eral (ICyTDF, PIRIVE09-18) (h ttp ://w w w .icy t.d f.g ob .m x/) and F u n d a cio n M e xic o V iv o (h ttp ://w w w .m e x ic o v iv o .o rg /). Th e fu n d e rs had
n o role in stu d y d e sig n, d ata c o lle c tio n and analysis, d e cisio n to p u b lish , o r p re p a ra tio n o f th e m a nu scrip t.
C o m p etin g In te re sts: T h e a u th o rs have d e clare d th a t n o c o m p e tin g interests exist.
* E-mail: g u sta vo.re ye ste ra n@ g m a il.com
" M e m b e rs h ip o f M e xica n HIV M o le cu la r E p id e m io lo g y P ro je ct G ro u p is p ro v id e d in th e A c k n o w le d g m e n ts.
Introduction
a n d low er-potency regim es [11]. T his hypothesis is sup p o rted by
the observation o f stabilizing o r decreasing tendencies in T D R in
som e developed countries d u rin g the last few years, w hich could be
reflecting the m ore recen t b ro a d use o f high-potency A R T regim es
[1,12,13,14]. O n going T D R surveillance p rogram s using co m p a
rable d ru g resistance definitions are necessary to guide w orldw ide
efforts to im prove tre a tm e n t outcom es by supplying in form ation to
support ed u catio n a n d prev en tio n p rogram s a n d p ro m o te the
rational use o f A R V drugs by clinicians a n d policy m akers
[11,15,16,17].
Efforts to provide b ro a d access to A R T in M exico started in
2001 w ith a universal access pro g ram , b u t it was until 2004 th a t
coverage for persons w ith o u t insurance was initiated [18].
C urrently, all individuals w ho a p p ro ac h the M exican H ealth
System have access to A R T eith er th ro u g h the traditional social
insurance p ro g ram or the p o p u la r insurance system, in tro d u ced
widely in the po p u latio n by 2006 [19]. A ccording to d a ta from the
A ntiretroviral th era p y (ART) has radically decreased H IV associated m orbidity a n d m ortality in countries w here b ro a d
access to a n tiretroviral (ARV) drugs has b e en achieved. H ow ever,
a w ider availability of A R T has led to increasing transm ission of
H IV variants w ith red u ced susceptibility to A R V drugs
[1,2,3,4,5,6,7,8,9]. T ran sm itte d d ru g resistance (T D R ) c an reduce
the efficacy of first-line A R V therapy, as com plete suppression of
H IV m ay be com prom ised [10]. T h e presence o f resistance
m utations in isolates from A R V -drug-na'ive patients rem ains an
im p o rta n t concern for the m an a g em e n t o f H IV infection,
especially in the setting o f resource-lim ited countries th a t have
recently scaled-up A R T access. N evertheless, m ost patients in this
setting a re starting A R T o n p o te n t regim ens, possibly delaying
transm ission o f drug-resistant H IV strains as c o m p a red w ith highincom e countries, w here A R T scale-up b eg an w ith suboptim al
PLoS ONE | www.plosone.org
1
November 2011 | Volume 6 | Issue 11 | e27812
k
/
j
q
o
World Journal of
Gastrointestinal Oncology
O nline Subm issions: h ttp ://w w w .w jg n et.co m /1 9 4 8 -5 2 0 4 o fic e
wjgo@ wjgnet.com
doi:10.4251/wjgo.v3.i6.103
World J Gastrointest Oncol 2011 June 15; 3(6): 103-106
ISSN 1948-5204 (online)
© 2011 B a ish id e n g . A ll r ig h ts re s e rv e d .
CASE REPORT
Adult intussusception secondary to an ileum hamartoma
Carlos M Nuno-Guzman, Jose Arroniz-Jauregui, Ismael Espejo, Josue Solis-Ugalde, Jose Ignacio Gomez-Ontiveros,
Arturo Vargas-Geronimo, Jesus Valle-Gonzalez
Carlos M Nuno-Guzman, Jose Arroniz-Jauregui, Jose Ig
nacio Gomez-Ontiveros, Arturo Vargas-Geronimo, Jesus
Valle-Gonzalez, Department of General Surgery, Antiguo Hos
pital Civil de Guadalajara “Fray Antonio Alcalde”, Calle Hos
pital No. 278, Sector Hidalgo. C.P. 44280, Guadalajara, Jalisco,
Mexico
Ismael Espejo, Department of Histopathology, Antiguo Hos
pital Civil de Guadalajara “Fray Antonio Alcalde”, Calle Hos
pital No. 278, Sector Hidalgo. C.P. 44280 Guadalajara, Jalisco,
Mexico
Josue Solfs-Ugalde, Department of Radiology, Antiguo Hospital
Civil de Guadalajara “Fray Antonio Alcalde”, Calle Hospital No.
278, Sector Hidalgo. C.P. 44280, Guadalajara, Jalisco, Mexico
Author contributions: Nuno-Guzman CM, Arroniz-Jauregui J,
Espejo I and Solis-Ugalde J supplemented the case report data;
Nuno-Guzman CM, Gomez-Ontiveros JI and Vargas-Geronimo
A analyzed the case data; N uno-Guzman CM and Espejo I
wrote the document; Nuno-Guzman CM, Arroniz-Jauregui J,
Gomez-Ontiveros JI, Vargas-Geronimo A and Valle-Gonzalez J
participated in surgery on the patient.
Correspondence to: Carlos M Nuno-Guzman, MD, MSc,
D epartm ent o f General Surgery, Antiguo Hospital Civil de
Guadalajara “Fray Antonio Alcalde”, Calle Hospital No. 278.
Sector Hidalgo. C.P. 44280, Guadalajara, Jalisco,
Mexico. [email protected]
Telephone: +1-5233-36145501 Fax: +1-5233-36690229
Received: October 15, 2010
Revised: March 12, 2011
Accepted: March 18, 2011
Published online: June 15, 2011
laparotomy, an ileal hamartoma was found as the lead
point of the intussusception. Surgical management and
histopathologic studies are described. A recurrent in
testinal obstruction and classic ultrasound findings may
lead to the diagnosis of intussusception but surgical
exploration remains essential. The principle of resec
tion without reduction is well established.
© 2011 Baishideng. All rights reserved.
Key words: Adult intussusception; Ileum hamartoma;
Intestinal obstruction
Peer reviewer: Goran Stanojevic, MD, PhD, Proffesor, De
partment of Surgery, Clinical Centre Nis, Bul Zorana Djindjica
48, 18000 Nis, Serbia
N u no-G uzm an CM , A rro n iz-Jau reg u i J, E spejo I, SolisUgalde J, Gomez-Ontiveros JI, Vargas-Geronimo A, ValleG onzalez J. A dult intussusception secondary to an ileum
hamartoma. World J Gastrointest O ncol 2011; 3(6): 103-106
Available from: URL: http://w w w .w jgnet.com /1948-5204/
full/v3/i6/103.htm DOI: h ttp ://d x.doi.org/10.4251/w jgo.
v3.i6.103
INTRODUCTION
In tu ssu scep tio n accounts fo r 1% -5% o f all cases o f in
testinal o b stru ctio n in adults[1]. In th e m ajority o f adult
patients, a cause is identified. H ow ever, clinical p rese n ta
tio n is n o t specific, m anifesting as chronic intestinal o b
stru ctio n sy m p to m s[2]. A lth o u g h radiographic findings at
ab dom inal u ltraso n o g rap h y and co m p u ted to m o g rap h y
m ay be indicative, a preoperative diagnosis is m ade less
frequently in adult p atien ts th an in children[2,3].
A b stra c t
Intussusception is a rare condition in the adult popula
tion. However, in contrast to its presentation in chil
dren, an identifiable etiology is found in the majority of
cases. Clinical manifestations of adult intussusception
are non-specific and patients may present with acute,
intermittent or chronic symptoms, predominantly those
of intestinal obstruction. A 27-year-old male patient
with recurrent abdominal pain secondary to intussus
ception is herein reported. The clinical presentation
and ultrasonographic findings led to the diagnosis. At
CA SE REPORT
A 27-year-old m ale p a tie n t p re se n te d at th e em ergency
i f
jg .V tL ,*
W JGO | w w w .w jgnet.com
103
Ju n e 15, 2011 | V o lu m e 3 | Iss u e 6 |
J o u r n a l o f C l i n i c a l M i c r o b i o l o g y , Aug. 2010, p. 3041-3043
0095-1137/10/$12.00 doi:10.1128/JCM.00880-10
Copyright © 2010, Am erican Society for Microbiology. All Rights Reserved.
Vol. 48, No. 8
First Report of Staphylococcal Clinical Isolates in Mexico with Linezolid
Resistance Caused by cfr: Evidence of In Vivo cfr Mobilization7
An oxazolidinone resistance mechanism (Cfr) was recently
described in hum an isolates of staphylococci (18). Cfr causes
posttranscriptional methylation of the 23S rR N A (A2503), af
fecting drugs belonging to several antimicrobial classes (10).
c/r-carrying isolates recovered from hum an clinical specimens
are still rare (4, 6); however, cases were reported in the U nited
States (12), Colombia (18), and Spain (15). H ere, we report the
first cases of hum an clinical infections caused by Cfr-producing
Staphylococcus species in Mexico and dem onstrate evidence of
interspecies c/r mobilization.
T hree linezolid-resistant (MIC, 32 pg/ml) Staphylococcal
isolates were submitted to a central monitoring laboratory (JMI
L aboratories) as p a rt of th e SEN T R Y A ntim icrobial S ur
veillance Program in 2009. T hese strains w ere collected
from hospitalized patients at the H ospital Civil de G u ad ala
jara. Staphylococcus cohnii (10842A) was found in a blood
culture (August 2009) from a 30-year-old m an adm itted with
multiple traum a. Staphylococcus epidermidis (12898A) was also
recovered in blood (October 2009) from a 50-year-old female
with bacterem ia who was adm itted with a diagnosis of GuillainB arre syndrome. Both isolates were cultured within 48 h after
patients had developed clinical signs of sepsis (i.e., systemic
inflammatory response syndrome [SIRS]). The third organism
was an S. epidermidis isolate (5873X) cultured (October 2009)
from abdom inal fluid in a 36-year-old male presenting with
multiple traum a.
Bacterial identification was confirmed by 16S rR N A se
quencing (3). isolates were tested for susceptibility by the ref
erence broth microdilution m ethod (1). M IC interpretations
were perform ed based on Clinical and Laboratory Standards
Institute criteria (2), except for retapam ulin M IC values (19).
Quality control strains included Staphylococcus aureus ATCC
29213 and Enterococcus/aecalis A t C c 29212 (2). Isolates were
screened for cfr and mutations in the 23S rR N A as described
previously (12). L3- and L4-encoding genes were PCR am pli
fied (13), amplicons were sequenced on both strands, and
putative proteins w ere com pared with those from linezolidsusceptible S. epidermidis A TCC 12228 and S. cohnii ATCC
29974. Pulsed-field gel electrophoresis (PFG E) and multilocus
sequence typing were perform ed on S. epidermidis isolates (11,
14). A fter extraction (plasmid D N A minikit; Qiagen GmbH,
Hilden, Germany), plasmid DNAs were digested (H in d lll and
X bal), separated on a 1% agarose gel, and tran sferred onto
a nylon m em brane by S outhern blotting (17). M em branes
w ere hybridized using a c/r-specific p robe (R oche D iagnos
tics G m bH , M annheim , G erm any).
Linezolid-resistant isolates had their identifications confirmed
as S. epidermidis (isolates 12898A and 5873X) and S. cohnii
(isolate 10842A). Isolates were oxacillin resistant (MIC, > 2
pg/ml) and exhibited elevated MICs for linezolid (32 pg/ml),
quinupristin-dalfopristin (1 to 4 pg/ml), retapam ulin (> 8 pg/
ml), chloramphenicol (16 to 32 pg/ml), and clindamycin (>64
pg/ml) (Table 1). Isolates w ere susceptible to tetracycline, tigecycline, daptomycin, and glycopeptides.
All strains were PCR positive for c/r and wild type for 23S
rR N A and L4, except for S. cohnii, which showed L4 substitu
tions (Asn20Ser, Ala133Thr, and Val155Ile) (Table 2). L3
TABLE 1. Antimicrobial susceptibility profiles of cfr-carrying
Staphylococcal isolates recovered from clinical specimens of
hospitalized patients in G uadalajara, Mexico
M IC (pg/m l) (susceptibility category)a
A ntim icrobial agent
S. cohnii
10842A
S. epidermidis
12898A
S. epidermidis
5873X
Linezolid
Q uinupristin-dalfopristin
R etapam ulin
Chloramphenicol
Clindamycin
Tigecycline
Tetracycline
Doxycycline
D aptom ycin
Vancomycin
Teicoplanin
Oxacillin
Ciprofloxacin
Erythrom ycin
G entam icin
Trim ethoprim -sulfam ethoxazole
32 (R)
4 (R)
> 8 (R )
32 (R)
> 64 ( r )
0.06 (S)
<0.12 (S)
<0.12 (S)
0.25 (S)
1(S )
< 2 (S )
> 2 (R)
> 4 (R)
> 2 (R)
> 8 (R )
<0.5 (S)
32 (R)
2 (I)
8 (R )
16 (I)
> 64 (R)
0.12 (S)
2 (S)
0.5 (S)
0.5 (S)
2 (S)
8 (S)
> 2 (R)
> 4 (R)
> 2 (R)
> 8 (R)
> 2 (R)
32 (R)
1 (S)
> 8 (R )
16 (I)
>64 (R)
0.25 (S)
1 (S)
1 (S)
0.5 (S)
2 (S)
8 (S)
> 2 (R)
> 4 (R)
> 2 (R)
> 8 (R)
> 2 (R)
a M IC interpretive criteria w ere as published in CLSI M100-S20 (2). R eta
pam ulin M IC results w ere interpreted according to param eters reported by
Traczewski e t al. (19). S, susceptible; I, interm ediate; R, resistant.
Ser158Tyr, Asp159Tyr, and Leu101Val mutations were noted
in both S. epidermidis isolates, while Ser158Phe and Asp159Tyr
were observed in S. cohnii. T he L3 Leu101Val substitution was
previously detected in a linezolid-susceptible clinical isolate
(data on file, JM I Laboratories). However, Gly155 and Ala157
were previously implicated in disturbing linezolid binding (8,
9). Thus, due to the proximity of these amino acid substitutions
to those found in this study, the L3 m utations coupled with c/r
may act synergistically and possibly contribute to the elevated
linezolid M IC results. A n A sn158Ser m utation in L4 was
previously n o ted in a linezolid-susceptible S. epidermidis
strain (20). T h erefo re, since Val155Ile is close to Asn158
and the alterations found in L4 are n o t within a conserved
region, they likely do n ot rep resen t resistance m utations;
however, additional experim ents are needed.
T he S. epidermidis isolates (12898A and 5873X) displayed
TA BLE 2. M olecular findings for cfr-carrying Staphylococcus
isolates recovered from clinical specimens of hospitalized
patients in Guadalajara, Mexico
Isolate
S. cohnii
10842A
S. epidermidis
12898A
S. epidermidis
5873X
c/r
Positive W Ta
Positive W T
Positive W T
a W T, wild type.
3041
23S
rR N A
M utations in:
L3
L4
Ser158Phe/Asp159Tyr Asn20Ser/Ala133Thr/
V al155Ile
Ser158Tyr/Asp159Tyr/ W T
Leu101Val
Ser158Tyr/Asp159Tyr/ W T
Leu101Val
PLos
OPEN 3 ACCESS Freely available online
one
Pilot, Randomized Study Assessing Safety, Tolerability
and Efficacy of Simplified LPV/r Maintenance Therapy in
HIV Patients on the 1st PI-Based Regimen
Pedro Cahn1, Julio Montaner2, Patrice Junod3, Patricia Patterson1, Alejandro Krolewiecki1, Jaime
Andrade-Villanueva4, Isabel Cassetti5, Juan Sierra-Madero6, Arnaldo David Casiro7, Raul Bortolozzi8,
Sergio Horacio Lupo9, Nadia Longo10, Emmanouil Rampakakis10, Nabil Ackad11, John S. Sampalis10,12*
1 F u n d a cio n H u e sp e d , B ueno s A ires, A rg e n tin a , 2 U n ive rsity o f British C o lu m b ia , V an co u ve r, Canada, 3 C lin iq u e M e d ica le d u Q u a rtie r Latin, M o n tre a l, Canada, 4 A n tig u o
H o sp ita l C iv il d e G u adalajara ''Fray A n to n io A lca ld e '', CUCS, U n ive rsid a d d e G uadalajara, G uadalajara, Jalisco, M e xico , 5 H e lio s Salud, B u e n o s Aires, A rg e n tin a , 6 Instituto
N a cio n a l d e C ie n cia s M e d ica s y N u tricio n , M e xico , M e xico , 7 H o sp ita l G e n e ra l d e A g u d o s T e o d o ro A lvarez, B u e n o s Aires, A rg e n tin a , 8 D iv isio n Estud io s C lin ico s, C e n tro
D ia g n o stic o M e d ic o d e A lta C o m p le jid a d S.A. (CIBIC), Santa Fe, A rg e n tin a , 9 Institu to CAICI, Santa Fe, A rg e n tin a , 10 JSS M e d ic a l Research, W e stm o u n t, Canada, 11 A b b o tt
Lab o rato ries, M o n tre a l, Canada, 12 M c G ill U niversity, M on tre a l, Canada
Abstract
Objectives:To compare the efficacy and safety of an individualized treatment-simplification strategy consisting of switching
from a highly-active anti-retroviral treatment (HAART) with a ritonavir-boosted protease inhibitor (PI/r) and 2 nucleoside
reverse-transcriptase inhibitors (NRTIs) to lopinavir/ritonavir (LPV/r) monotherapy, with intensification by 2 NRTIs if
necessary, to that of continuing their HAART.
Methods :T h is is a one-year, randomized, open-label, multi-center study in virologically-suppressed HIV-1-infected adults on
their first PI/r-containing treatment, randomized to either LPV/r-monotherapy or continue their current treatment.
Treatment efficacy was determined by plasma HIV-1 RNA viral load (VL), time-to-virologic rebound, patient-reported
outcomes (PROs) and CD4+T-cell-count changes. Safety was assessed with the incidence of treatment-emergent adverse
events (AE).
Results: Forty-one patients were randomized to LPV/r and 39 to continue their HAART. No statistically-significant differences
between the two study groups in demographics and baseline characteristics were observed. At day-360, 71(39:LPV/
r;32:HAART) patients completed treatment, while 9(2:LPV/r;7:HAART) discontinued. In a Last Observation Carried Forward
Intent-to-Treat analysis, 40(98%) patients on LPV/r and 37(95%) on HAART had VL<200copies/mL (P = 0.61). Time-tovirologic rebound, changes in PROs, CD4+ T-cell-count and VL from baseline, also exhibited no statistically-significant
between-group differences. Most frequent AEs were diarrhea (19%), headache (18%) and influenza (16%). Four (10%)
patients on LPV/r were intensified with 2 NRTIs, all regaining virologic control. Eight serious AEs were reported by 5(2:LPV/
r;3:HAART) patients.
Conclusion: At day-360, virologic efficacy and safety of LPV/r appears comparable to that of a PI+2NRTIs HAART. These
results suggest that our individualized, simplified maintenance strategy with LPV/r-monotherapy and protocol-mandated
NRTI re-introduction upon viral rebound, in virologically-suppressed patients merits further prospective long-term
evaluation.
Trial Registration: ClinicalTrials.gov
NCT00159224
C itatio n : C ahn P, M o n ta n e r J, J u n o d P, P atte rson P, K ro le w ie cki A, et al. (2011) P ilo t, R a n d o m ize d S tu d y A ssessin g Safety, T o le ra b ility and E fficacy o f S im p lifie d
LPV /r M a in te n a n c e T h era p y in HIV P atie n ts o n th e 1st PI-Based R eg im en . PLoS O N E 6(8): e23726. doi:10 .1 37 1/jo urna l.p o ne .0 0 23 72 6
Ed ito r: A la n Landay, Rush U niversity, U n ite d States o f A m e rica
R eceived Ja n u a ry 31, 2011; A ccep te d Ju ly 25, 2011; P u b lish e d A u g u s t 19, 2011
C o p yrig h t: © 2011 C a h n e t al. Th is is an o p en -acce ss a rtic le d is trib u te d u n d e r th e te rm s o f th e C re ativ e C o m m o n s A ttrib u tio n License, w h ic h p erm its
u n re stricte d use, d istrib u tio n , and re p ro d u c tio n in a n y m e d iu m , p ro v id e d th e o rig in a l a u th o r and so u rce are cred ited .
Fu n d in g : This stu d y w as s u p p o rte d by a g ra n t-in -aid b y A b b o t t Canada. T h e fu n d e r w as in v o lv e d in th e c o n c e p tio n and d e sig n o f th e e x p e rim e n t b u t had no
role in d ata c o lle c tio n and analysis, d e cisio n to p u b lish , o r w ritin g o f th e m a n u scrip t. JSS M e d ica l Research, a C R O c o n tra c te d b y A b b o tt, a n a ly ze d th e data and
w ro te th e m a n u scrip t.
C o m p etin g In terests: N A is an A b b o t t e m p lo y e e , NL, ER and JSS are e m p lo y e e s o f JSS M e d ica l Research, th e CRO c o n tra c te d b y A b b o tt to c o n d u c t th e stu d y
and p e rfo rm th e d ata analysis. This d o e s n o t alte r th e a u th o rs' a d h e re n ce to all th e PLoS O N E p o lic ie s o n sharing d ata and m aterials.
* E-mail: jsam p alis@ jssresearch.com
Introduction
T h e sta n d ard tre a tm e n t a p p ro ac h in H IV -1 infection involves
using a com b in atio n o f a t least th ree a n tiretroviral (ARV) drugs,
designated highly active a n tiretroviral th era p y (H A A R T ) to fully
PLoS ONE | www.plosone.org
suppress plasm a H IV -1 R N A viral lo ad (VL), in a sustainable
fashion. C u rre n tly reco m m en d ed first line antiretro v iral regim ens
consist o f tw o nucleoside (N R T I) o r nucleotide (N tR T I) analog
reverse transcriptase inhibitors a n d eith er a non-nucleoside reverse
transcriptase inh ib ito r (N N R T I), a n integrase strand transfer
August 2011 | Volume 6 | Issue 8 | e23726
Talati et al. BMC infectious Diseases 2011, 11:264
http://www.biomedcentral.com/1471-2334/11/264
^BM C
Infectious Diseases
RESEARCH ARTICLE
Open Access
Diagnosis of latent tuberculosis infection among
HIV discordant partners using interferon gamma
release assays
Naasha J T alati1*, Esteban G onzalez-D iaz2, Charles M utem ba3, Jo yan n a W endt4, W illiam Kilem be3,
Law rence M w ananyan d a3, Elwyn C h o m b a3, Susan A llen 3,5, Carlos del Rio4,5 and Henry M Blum berg4,5
Abstract
Background: There is limited data on the effect of HIV status and CD4 counts on performance of Interferon- g
Release assays (IGRAs) for diagnosis of latent tuberculosis infection (LTBI).
Methods: A cross sectional study was conducted to assess the prevalence of and risk factors for a positive
diagnostic test for LTBI, using tuberculin skin test (TST) and IGRAs among HIV-discordant couples in Zambia.
Results: A total o f 596 subjects (298 couples) w ere enrolled. Median CD4 count among HIV positive persons was
388 cells/gl, (range 51-1330). HIV negative persons were more likely than their HIV positive partner, to have a
positive diagnostic test for LTBI with TST (203 vs 128), QFT (171 vs 109) and TSPOT (156 vs. 109). On multivariate
analysis, HIV negative status was an independent predictor for a positive QFT (OR = 2.22, 95% CI 1.42- 3.46) and
TSPOT (OR = 1.79, 95% CI 1.16-2.77). Am ong HIV positive subjects a CD4 count > 388 cells/gl was associated with a
positive TST (OR = 1.76 95% CI 1.10-2.82) and QFT (OR = 1.71 95% CI 1.06-2.77) but not TSPOT (OR = 1.20 95% CI
0.74-1.94).
Conclusions: Persons with HIV had significantly few er positive diagnostic tests for LTBI with TST, QFT and TSPOT.
Persons with a CD4 count < 388 cells/gl w ere less likely to have a positive TST or QFT, but not less likely to have a
positive TSPOT. TSPOT m ay perform better than TST or QFT in HIV positive individuals.
Background
H IV and tuberculosis (TB) are th e leading causes of death
am ong adults due to an infectious disease worldwide. It is
estim a ted th a t > 13 m illio n peo p le are co -in fected w ith
H IV a n d M y c o b a c te riu m tu b e rc u lo sis [1]. T h e W o rld
H e a lth O rg a n iz a tio n (W H O ) e s tim a te s th a t th e re are
a p p ro x im a te ly 9.3 m illio n n ew cases o f active TB an d
nearly 2 m illion deaths due to th e disease w orldw ide each
y ear [2,3]. T w enty-seven p erc en t o f TB cases and 31% of
T B -re la ted d ea th s o cc u r in A frica, h o m e to only 11% of
the w orld's population [4].
H IV infection is th e m o st im p o rta n t risk factor for p ro
g re s s io n fro m la te n t tu b e rc u lo s is in f e c tio n (LTB I) to
a c tiv e TB [5,6]. In p a tie n ts w ith H IV a n d L T B I, th e
* C o rre sp o n d e n c e : naash a ta la ti@ ya h o o .co m
d e p a r t m e n t o f M e d ic in e , U n ive rsity o f P e n n sy lv a n ia , P h ila d elp h ia , PA 19019,
U SA
an n u a l risk of p ro g ressio n to active TB is ap p ro x im ately
10% p e r year [7-9] co m p ared to a lifetim e risk of 5-10%
in im m u n o c o m p e te n t p e rso n s [7]. D iag n o sis an d tr e a t
m e n t of LTBI is a m ajo r strateg y for TB co n tro l an d p re
v e n tio n in th e US [7,10]. W H O h as re c o m m e n d e d th e
im p lem e n ta tio n o f isoniazid preventive th e ra p y for HIV s e ro p o sitiv e p e rs o n s in an effo rt to p re v e n t a d d itio n a l
cases o f TB, b u t th is stra te g y h as n o t y e t b e e n w id ely
ado p ted in A frica [3].
F or nearly a century, diagnosis of LTBI has relied on the
tu b e rc u lin sk in te st (TST) w h ich h as several lim itatio n s
in clu d in g low specificity due to cross rea ctio n w ith BCG
v ac cin atio n an d n o n -tu b e rc u lo u s m y c o b ac teria (N T M )
and low sensitivity in H IV infection. N ew diagnostic tests
for tuberculosis are urgently needed to enhance global TB
control [11,12].
T w o I n te r f e r o n - y re le a s e assay s (IG R A s) a re n o w
c o m m e rc ia lly av a ila b le fo r th e d ia g n o s is o f L T B I
Full list o f a u th o r in fo rm a tio n is a v a ila b le a t th e e n d o f th e article
B io M ed Central
© 2011 Ta lati et al; licen see BioM ed C en tra l Ltd . Th is is an O p en A cce ss article d istrib u te d u n d e r th e te rm s o f th e C rea tive C o m m o n s
A ttrib u tio n Lice n se ( h ttp ://cre a tiv e co m m o n s.o rg /lice n se s/b y /2 .0 ), w h ic h p erm its u n restricted use, d istrib u tio n , and rep ro d u ctio n in
a n y m e d iu m , p ro vid ed th e o rig in a l w o rk is p ro p e rly cite d .
Neurology International 2009; volume 1:e18
Granulomatous hypophysitis
by Mycobacterium gordonae
in a non HIV-infected patient
Ju an Jo se Padilla-M artm ez,1
Salvador G onzalez-Cornejo,1
Lucia Elizabeth Alvarez-Palazuelo s,1
Je su s A lejan dro Villagom ez-M endez,1
Erw in Chiquete,2
Jo se A lfred o Dom m guez-Rosales,34
Ismael Esp ejo-Plascencia,3
Esteb an G o n z a le z ^ a z ,5
Jo se Rodrigo Torres-Baranda,6
Jo se Luis Ruiz-Sandoval’ 7
hypophysitis (GH) is an inflammatory disorder
characterized by the formation of granulomas
frequently associated with tuberculosis, sar
coidosis, syphilis, and lymphocytic adenohypophysitis. This entity usually presents with
systemic symptoms such as high fever and
hormonal disturbances.2
We describe a post-mortem case of granulo
matous hypophysitis secondary to infection
caused by Mycobacterium gordonae. To our
knowledge, only two other cases of GH caused
by non-tuberculous mycobacteria infection
(M ycobacterium m alm oense and M ycoba
cterium tokaiense) in non-compromised hosts
have been reported to date.3,4
C o rre s p o n d e n c e : J o s e L uis R uiz S an d o v al,
S e rv ic io d e N e u ro lo g fa y N e u ro c iru g fa , H o sp ital
C ivil d e G u a d a la ja ra “ F ray A n to n io A lc ald e ”.
H o sp ita l 2 7 8 , G u a d a la ja ra , J a lis c o , M ex ico .
CP: 44 2 8 0 . E -m ail: jo ru le j-1 n j@ p ro d ig y .n e t.m x
K ey w o rd s: g ra n u lo m a , h y p o p h y sis, n o n -tu b e rc u lo u s Mycobacteria, p a n h y p o p ititu a ris m , p itu ita ry
g lan d .
C o n trib u tio n s : all a u th o rs h av e s u b s ta n tia lly c o n
trib u te d to th e c o n c e p tio n a n d d e s ig n o f th e w o rk
a n d d a ta a n a ly sis , ta k e re s p o n s ib ility fo r th e fin al
v e rs io n o f th e m a n u s c rip t a n d a p p ro v e d it fo r
p u b lic a tio n .
C o n flic t o f in te re s t: a u th o r s o f th is p a p e r d e clare
th a t th e p a p e r is o rig in a l a n d h a s n o t b e e n p u b
lis h e d o r s u b m itte d fo r p u b lic a tio n e lse w h e re ,
a n d th a t th e r e is n o a ffilia tio n w ith a n y o rg a n iz a
tio n w ith a d ire c t o r in d ir e c t fin a n c ia l in te r e s t in
th e s u b je c t m a tte r d is c u s s e d in th e m a n u s c rip t
th a t m a y a ffe c t th e re p o rtin g o f th e w o rk s u b m it
te d .
’Departm ent of N eurology and
N eurosurgery; 2Departm ent of Internal
Medicine; 3Departm ent of Pathology;
Case Report
4Departm ent of Molecular Biology;
5Departm ent of Infectious D iseases, from
th e Hospital Civil de G uadalajara “ Fray
A ntonio A lcalde” ; 6Departm ent of
Molecular Biology and Genom ics;
7Departm ent of N eurosciences, from the
Centro Universitario de Ciencias de la
Salud (C U C S), Universidad de
G uadalajara, Jalisco , Mexico
Abstract
Lymphocytic or granulomatous hypophysitis
is a rare entity with a difficult diagnosis. Our
objective was to report a patient with nontuberculous granulomatous hypophysitis. An
HIV-negative 45-year old man with confusional
state, subacute ophthalmoplegia, and clinical
and laboratory findings of panhypopituitarism
was seen in the emergency unit. A cranial MRI
showed a sellar mass suggestive of hypophysitis. After an unsuccessful attempt with steroids
and antituberculous drugs the patient died.
Post-mortem histopathology revealed granulo
matous lesions and restriction fragment
length polymorphism analysis confirmed the
presence of Mycobacterium gordonae’s DNA. In
conclusion, we should consider granulomatous
hypophysitis in the differential diagnosis of
non-secreting hypophyseal tumors. The etiolo
gy of a pituitary granuloma by a non-tuberculous mycobacteria is best reached by histopathological techniques and molecular assays.
The optimal therapy is yet to be established.
Introduction
The pituitary region is susceptible to
involvement by cystic, neoplastic, infectious
and inflammatory processes.1 Granulomatous
O P E N (T )A C C E S S
A 45-year-old man presented with a sixmonth history of weight loss, anorexia, vomit
ing, malaise and apathy. In the last month his
condition worsened and headache, diplopia
and left ptosis appeared. Neurological exami
nation showed a person with slow mental pro
cessing, slow speech, affective flattening and
left ophthalmoplegia (partial III cranial nerve
palsy). No visual field disturbances, papillede
ma or meningeal signs were observed. General
physical exam ination was unremarkable.
Laboratory analyses only showed a low sodium
blood level (114 mmol/L). A chest x-ray and a
head CT scan were inconclusive and cere
brospinal fluid (CSF) was normal. After six
days of hospitalization, fever, diarrhea and stu
por appeared. A cranial MRI showed a sellar
and parasellar heterogeneous mass, which in
T1-weighted phase revealed a lesion with
hypointense areas. In a T2-weighted phase
this lesion was predominantly hyperintense
with a hypointense center. After gadolinium
administration, the lesion appeared heteroge
neous with a parasellar extension toward the
left cavernous sinus (Figure 1).
The measurement of plasma hypophysis
hormones revealed a panhypopituitarism
A
R
R ec e iv e d fo r p u b lic a tio n : 10 O c to b e r 2009.
A ccepted fo r p u b lic a tio n : 19 O c to b e r 2009.
T h is w o rk is lic e n s e d u n d e r a C re a tiv e C o m m o n s
A ttrib u tio n 3.0 L ice n se (by-nc 3 .0 ).
©Copyright J.J. PadUla-Mart^nez et al., 2009
Licensee PAGEPress, Italy
Neurology International 2009; l:e!8
doi:10.4081/ni.2009.e!8
state. Based on the neuroimaging and hor
monal findings, a presumptive diagnosis of
hypophysitis was made. The patient was treat
ed with steroid replacement, as well as with
first- and second-line antituberculous drugs.
Other laboratory studies were unremarkable,
including serological tests for B and C hepati
tis viruses, HIV, VDRL and Brucella, as well as
erythrocyte sedimentation rate, C-reactive pro
tein, antinuclear antibodies and rheumatoid
factor.
Despite management, the patient died on
day 11 of hospitilization. The autopsy showed
C
D
Figure 1. A cran ial m agn etic reson ance im ag in g show ed an in trasellar m ass. (A) A sagit
tal T l-w e ig h te d im age revealed a sellar lesio n w ith h ypointense areas. (B ) A gadolinium en han ced sag ittal im age show ed an en h an cin g lesion w ith a h ypointense center. A xial (C)
and co ro n al (D ) im ages d em onstrated parasellar exten sion tow ard th e le ft cavernous
sinus.
[N eurology In tern atio n al 2009; 1:e18]
[page 63]
Journal of Urban Health: B ulletin o f the New Y o rk A cadem y of M edicine, V ol. 88, No. 5
doi:10.1007/s11524-011-9613-2
© 2011 The New York Academ y of M edicine
Roundtable on Urban Living Environment Research
(RULER)
David Vlahov, Siddharth RajAgarw al, Robert M. Buckley,
Waleska Teixeira Caiaffa, Carlos F. Corvalan, Alex Chika Ezeh,
Ruth Finkelstein, Sharon Friel, Trudy Harpham,
Maharufa Hossain, Beatriz de Faria Leao, Gora Mboup,
Mark R. Montgomery, Julie C. Netherland, Danielle C. Ompad,
Am it Prasad, Andrew T. Quinn, Alexander Rothman,
David E. Satterthwaite, Sally Stansfield, and Vanessa J. Watson
ABSTRACT For 18 months in 2009-2010, the Rockefeller Foundation provided support to
establish the Roundtable on Urban Living Environment Research (RULER). Composed o f
leading experts in population health measurement from a variety o f disciplines, sectors, and
continents, RU LER m et for the purpose o f reviewing existing methods o f measurement for
urban health in the context o f recent reports from U N agencies on health inequities in urban
settings. The audience for this report was identified as international, national, and local
governing bodies; civil society; and donor agencies. The goal o f the report was to identify gaps
in measurement that must be filled in order to assess and evaluate population health in urban
settings, especially in informal settlements (or slums) in low- and middle-income countries.
Care must be taken to integrate recommendations with existing platforms (e.g., Health Metrics
Network, the Institute for Health Metrics and Evaluation) that could incorporate, mature, and
sustain efforts to address these gaps and promote effective data for healthy urban management.
RU LER noted that these existing platforms focus primarily on health outcomes and systems,
mainly at the national level. Although substantial reviews o f health outcomes and health
service measures had been conducted elsewhere, such reviews covered these in an aggregate
and perhaps misleading way. For example, some spatial aspects o f health inequities, such as
those pointed to in the 2008 report from the W H O ’s Commission on the Social Determinants
Vlahov is w ith the University of California, San Francisco School of Nursing, San Francisco, CA, USA;
Agarwal is w ith the U rban H ealth Resource Center, N ew Delhi, India; Buckley is w ith the Rockefeller
Foundation, N ew York, NY, USA; Caiaffa is w ith the Federal University, M inas Gerais, Belo Horizonte,
Brazil; Corvalan is w ith the Pan American H ealth O rganization, W ashington, DC, USA; Ezeh is w ith the
African Population and H ealth Research Center, N airobi, Kenya; Finkelstein, N etherland, Q uinn, and
Rothm an are w ith the N ew York Academy of M edicine, N ew York, NY, USA; Friel is w ith the Australian
N ational University, Canberra, Australia; H arpham is w ith the L ondon South Bank University, London,
England; Hossain and M boup are w ith UN-HABITAT, N airobi, Kenya; de Faria Leao is w ith the Bleao
Inform atica em Salude, Sao Paulo, Brazil; M ontgom ery is w ith the Population Council, N ew York, NY,
USA; O m pad is w ith N ew York University, N ew York, NY, USA; Prasad is w ith the W orld Health
Organization, Center for H um an Development, Kobe, Japan; Satterthwaite is w ith the International
Institute for Environment and Development, London, England; Stansfield is w ith the H ealth Metrics
N etw ork W orld H ealth Organization, Geneva, Switzerland; W atson is w ith the African Center for Cities,
University of Capetown, Capetown, South Africa.
Correspondence: David Vlahov, University of California, San Francisco School of Nursing, San
Francisco, CA, USA. (E-mail: [email protected])
793
Gonzalez-Hernandez et al. Nutrition Journal 2012,11:90
http://www.nutritionj.eom/content/11/1/90
Og,
RESEARCH
N U T R IT IO N
JO U R N A L
Open Access
Synbiotie therapy decreases microbial
transloeation and inflammation and improves
immunological status in HIV-infeeted patients:
a double-blind randomized controlled pilot trial
Luz A G onzalez-H ern an dez1, Luis F Jave-Suarez3, Mary Fafutis-M orris2, Karina E M ontes-Salced o 1,
Luis G Valle-G utierrez1, Ariel E C am p o s-Lo za1, Luis Ferm in Enciso -G om ez1 and Ja im e F A ndrade-V illanueva1*
Abstract
Background: HIV-infection results in dam age and dysfunction of the gastrointestinal system. HIV enteropathy
includes pronounced CD4+ T-cell loss, increased intestinal permeability, and microbial translocation that promotes
system ic im m une activation, w hich is im plicated in disease progression. A synbiotic is the combination of probiotics
and prebiotics that could im prove gut barrier function. Our study goal was to determ ine w hether the use of a
synbiotic, probiotics or a prebiotic can recover im m unological parameters in HIV-infected subjects through of a
reduction of microbial translocation and pro-inflammatory cytokine production.
Methods: A randomized, double-blind controlled study w as performed; tw enty Antiretroviral treatm ent-naive
HIV-infected subjects w ere subgrouped and assigned to receive a synbiotic, probiotics, a prebiotic, or a placebo
throughout 16 weeks.
Results: We had no reports of serious adverse-events. From baseline to w eek 16, the synbiotic group showed a
reduction in bacterial DNA concentrations in plasma (p = 0.048). Moreover, the probiotic and synbiotic groups
dem onstrated a decrease in total bacterial load in feces (p = 0.05). The probiotic group exhibited a significant
increm ent of beneficial bacteria load (such as Bifidobacterium; p = 0.05) and a decrease in harmful bacteria load
(such as Clostridium; p = 0.063). In the synbiotic group, the CD4+ T-cells count increased (median: +102 cells/pL;
p = 0.05) and the level o f Interleukin 6 cytokine decreased significantly (p = 0.016).
Conclusions: Our study show ed a significant increase in CD4+ T lym phocyte levels in the synbiotic group, which
could delay the initiation of antiretroviral therapy and decrease costs in countries with limited resources.
Introduction
A huge G astroin testinal (GI) pathology is observed in
p atien ts infected w ith H IV even du rin g prim ary infec
tion. A pproxim ately 60% of to tal CD4+ T cells, reside
in G ut-associated lym phoid tissue (GALT), an d of all
tissues, th e la tte r is one of th e m o st strongly affected
d u rin g H IV in fection [1]. In 1984, K otler and co llabora
to rs described H IV enteropathy; subsequently, several
* C o rre sp o n d e n c e : ja im e .a n d ra d e v @ g m a il.c o m
1HIV U nit Hospital Civil d e G u a d a la ja ra "Fray A n to n io A lc a ld e ”, U n iv e rsity o f
G u ad alajara, C alle H o spital 278, C o lo n ia A lca ld e Barran q uitas, G u a d alajara,
Ja lisc o 44 2 8 0 , M exico
F u ll lis t o f a u th o r in fo rm a tio n is a v a ila b le a t th e e n d o f th e article
B io M ed Central
studies have d em o n strate d H IV -associated dam age to
th e GI tra c t [2-4].
Gastrointestinal dam age in HIV infection and microbial
translocation
O n ce H IV en ters th e m ucosa of th e gut, it finds a large
pool of restin g Ki67-CD 4+ T cells; up to 60% of these
cells are infected an d are capable of p ro d u ce th e virus,
co n stitu tin g a dense n etw o rk of cells in th e intestinal
m ucosa, w hich is capable of spreading th e infection to
u n in fected cells th ro u g h cell-to-cell contact. T his spread
allows th e m ain ten an ce of a co n tin u o u s chain o f viral
tran sm issio n and form s p a rt of a large reservoir th a t is
© 2012 G on za lez-H ern a n d ez et al.; licen see BioM ed C entral Ltd. Th is is an O p en A ccess article d istrib u ted u nd er th e term s o f
th e Creative C o m m o n s A ttrib u tio n Lice n se (h ttp ://crea tiveco m m o n s.o rg /lice n ses/b y /2.0 ), w h ic h p erm its u nrestricted use,
d istrib u tion , and rep ro d u ctio n in a n y m e d iu m , p rovid ed th e o rig in a l w o rk is p ro p erly cited.
Case Reports in
Gastroenterology
C a se Rep G a s tr o e n te r o l 2 0 1 2 ;6 :4 8 9 -4 9 5
P u b lis h e d o n lin e :
DOI: 1 0 .1 1 5 9 /0 0 0 3 4 1 5 8 6
Ju ly 24, 20 12
© 2012 S. Karger AG, Basel
489
ISSN 1662-0631
w w w .karg er.co m /crg
T h is is an O p e n A c ce ss a rtic le lic e n s e d u n d e r th e te rm s o f th e C re a tiv e C o m m o n s
A ttrib u tio n - N o n C o m m e r c ia l- N o D e r iv s 3.0 Lice n se (w w w .k a rg e r.c o m / O A -lic e n s e ), a p p lic a b le
t o th e o n lin e v e rs io n o f th e a rtic le o n ly . D is trib u tio n fo r n o n -c o m m e rc ia l p u rp o s e s o nly.
Obstructing Gangliocytic
Paraganglioma in the Third
Portion of the Duodenum
C a r lo s M . N u n o - G u z m a n a
'
F r a n c is c o A lv a r e z - L o p e z
F e lip e C e r d a - C a m a c h o
d
b
J o s e A r r o n iz - J a u r e g u i a
J o rg e L. C o ro n a
R o d r ig o R o s tro
c
a
J u a n I. G u t ie r r e z - M a n j a r r e z b
D epartm ents of aG eneral Surgery, bG astro en tero lo gy, cRadiology and
dPathologic Anatom y, Antiguo Hospital Civil de G uadalajara 'Fray Antonio
A lcald e', G uad alajara, M exico
Key Words
D u ode n al o b s tru ctio n • G a n g lio c y tic p ara g an g lio m a • D u od en al neo p lasm
Abstract
Gangliocytic paragangliom as are infrequent tum ors alm ost exclusively found in the second
portion of the duodenum . An unusual case of a gangliocytic paragangliom a in the third
portion of the duodenum with obstructive sym ptom s is herein reported. A 16-year-old male
patient presented with epigastric pain, postprandial plenitude and reflux. A barium sw allow
failed to dem onstrate abnorm alities. Endoscopy show ed a pedunculated subm ucosal tum or,
originating at the third duodenal portion and causing partial obstruction. Biopsy was not
perform ed due to the risk of bleeding. CT scan dem onstrated a polypoid lesion. Through a
transm esocolic approach and an anterior duodenotom y, resection of the tu m o r was
perform ed. No lymph node or other organ affection was found. Histologic exam ination
revealed a gangliocytic paraganglioma. Im m unohistochem ical exam ination was perform ed.
Gangliocytic paragangliom as originating in the third or fourth portion of the duodenum , as in
the present case, are extrem ely rare. Characteristic histologic features including epithelioid
cells, spindle-shaped cells and ganglion-like cells w ere met. The m ajority of cases m anifest
w ith a sim ilar benign behavior. Local resection of the tu m o r is recom m ended for these cases.
An infrequent case of a gangliocytic paragangliom a located in the third portion of the
KAR.GER
duodenum , with a less com m on clinical presentation, is herein reported.
Carlos M. Nuno-G uzman, MD, MSc
C a lle 68 N o - 1 3 8 S e c t ° r R e foi-ma
G u a d a la ja ra , J a lis c o 4 4 8 0 0 (M e x ic o )
T e l. +52 33 3 6 1 4 5 5 0 1 , E - M a il c a r lo s n u n o g u z m a n @ h o tm a il.c o m
THE GLOBAL ROLE OF KIDNEY TRANSPLANTATION.
G. G arcia-G arcia, P. Harden ,1 and J. Chapm an 2
Author information ► Copyright and License information ►
Abstract
Go to:
Introduction
Kidney transplantation is acknowledged as a major advance of modern medicine
which provides high-quality life years to patients with irreversible kidney failure
(end-stage renal disease, ESRD) worldwide. What was an experimental, risky, and
very limited treatment option 50 years ago is now a routine clinical practice in more
than 80 countries. What was once limited to a few individuals in a small number of
leading academic centers in high-income economies is now transforming lives as a
routine procedure in most high- and middle-income countries, but can do much
more. The largest numbers of transplants are performed in the USA, China, Brazil,
and India, while the greatest population access to transplantation is in Austria,
USA, Croatia, Norway, Portugal, and Spain. There are still many limitations in
access to transplantation across the globe. World Kidney Day on 8 March 20 12 will
bring focus to the tremendous life-changing potential of kidney transplantation as a
challenge to politicians, corporations, charitable organizations, and healthcare
professionals. This commentary raises awareness of the progressive success of
organ transplantation, highlighting concerns about restricted community access
and human organ trafficking and commercialism, while also exploring the real
potential for transforming kidney transplantation into the routine treatment option
for ESRD across the world.
Go to:
Outcomes of Kidney Transplantation
The first successful organ transplantation is widely acknowledged to be a kidney
transplant between identical twins performed in Boston on 23 Dec 1954, which
heralded the start of a new era for patients with ESRD .[1 ] In the development years
between 1965 and 1980, patient survival progressively improved toward 90% and
graft survival rose from less than 50% at 1 year to at least 60% after a first deceased
donor kidney transplant, based on immunosuppression with azathioprine and
prednisolone. The introduction of cyclosporine in the m id-1980s was a major
advancement, leading to 1-year survival rates of more than 90% and graft survival
of 80% .[2] In the last 20 years, better understanding of the benefits of combined
immunosuppressant drugs coupled with improved organ matching and
preservation, as well as chemoprophylaxis of opportunistic infections, have all
CLINICAL SCIENCES
Prediction of Retinopathy of Prematurity Using the
Screening Algorithm WINROP in a Mexican
Population of Preterm Infants
L u z Consuelo Zepeda-Romero, MD, MSc; A nna-Lena Hdrd, MD, PhD; Larissa M aria G om ez-R uiz, MD;
Jose Alfonso G utierrez-Padilla, MD, MSc; Eusebio Angulo-Castellanos, MD; Juan Carlos Barrera-de-Leon, MD, PhD;
Juan M anuel Ram irez-Valdivia, MD; Cesareo G onzalez-Bernal, MD; Claudia Ivette Valtierra-Santiago, MD;
E speranza Garnica-Garcia, MD; Chatarina Lofqvist, PhD; A nn Hellstrom , MD, PhD
O b je c tiv e : T o re tro sp e c tiv e ly v alidate th e W IN R O P
(w eight, in su lin -lik e g ro w th factor I, neo n atal, retin o p a
th y of p re m a tu rity [RO P]) algorithm in id en tificatio n of
type 1 ROP in a M exican p o p u la tio n of p rete rm infants.
W IN R O P alg o rith m co rrectly id en tified type 1 ROP in
84.7% of very p rete rm in fan ts b u t in o nly 5.3% of m o d
erately p rete rm infants. F or in fan ts w ith GA less th a n 32
w eeks, th e specificity w as 26.6% , an d for th o se w ith GA
32 w eeks or m ore, it w as 88.3%.
M eth o d s: In infants adm itted to the neonatal intensive
care u nit atH ospital Civil de Guadalajara from 2005 to 2010,
w eight m easurem ents h ad been recorded once w eekly for
192 very preterm infants (gestational age [GA] < 3 2 weeks)
and for 160 m oderately p reterm infants (GA > 3 2 weeks).
Repeated eye exam inations had been perform ed and m axi
m al ROP stage h ad been recorded. D ata are p a rt of a casecontrol database for severe ROP risk factors.
Co n clu sio ns: In th is M exican p o p u la tio n of p rete rm in
fants, W IN R O P d etected type 1 ROP early in 84.7% of
very p reterm infants an d correctly identified 26.6% of in
fants w h o d id n o t develop type 1 ROP. U n ce rtain ties in
d atin g of p reg n an cies an d differences in p o stn a ta l co n
d itio n s m a y b e fa c to rs e x p la in in g th e d iffe re n t o u t
com es of W IN R O P in th is p o p u latio n .
R e su lts: T ype 1 ROP w as fo u n d in 51.0% of very p re
te rm a n d 35.6% of m o d e ra te ly p re te rm in fan ts. T h e
A rch Ophthalmol. 2012;130(6):720-723
Author Affiliations:
Retinopathy of Prematurity
Clinic and Blindness Prevention
(Drs Zepeda-Romero,
Valtierra-Santiago, and
Garnica-Garcia), Departments
of Neonatology, UnidadJ. I.
Menchaca (Drs Gomez-Ruiz
and Ramirez-Valdivia) and
Unidad F. Antonio Alcalde
(Drs Gutierrez-Padilla and
Angulo-Castellanos), Hospital
Civil de Guadalajara, Centro
Universitario de Ciencias de la
Salud, Universidad de
Guadalajara, and Department of
Neonatology, Hospital Materno
Infantil Esperanza Lopez
Mateos (Drs Barrera-de-Leon
and Gonzalez-Bernal),
Guadalajara, Jalisco, Mexico;
and Department of
Ophthalmology, Institute of
Neuroscience and Physiology,
University of Gothenburg,
Gothenburg, Sweden (Drs Hard,
Lofqvist, and Hellstrom).
R
ETINOPATHY OF PREMATU
rity (ROP) is a m ajor cause
of life-long blindness; its fre
q u en c y is stro n g ly associ
a te d w ith th e q u a lity of
health care. In high-incom e countries, w here
m a n y very im m atu re babies survive, se
vere ROP affects the m o st im m ature, and
screen in g an d trea tm e n t p ro g ram s m ake
b lin d n e ss rare. In m id d le-in co m e c o u n
tries, health care is good en o u g h for su r
vival of som e extremely prem ature and more
m a tu re babies1 b u t is insufficient in p re
venting ROP, leading to an increased preva
lence of ROP in m ore m ature babies; an epi
dem ic of ROP-related blindness is presently
seen in these countries. In the poorest parts
of the w orld, w here im m ature babies do n ot
survive, ROP is n o t a problem .2
C urrent screening program s are based on
gestational age (GA) and/or b irth w eight
(BW) but, because of national differences
in socioeconom ic status and quality of care,
different countries need different screen
ing criteria.2 T he disadvantage of u sin g GA
for national screening criteria w as recently
show n in a study3 from Rio de Janeiro. Two
clinics w ith high survival rates had n o in
fants w ith type 1 ROP w hose GA w as m ore
ARCH O PH TH A LM O L /V O L 130 (N O . 6), JU N E 2012
720
th an 32 weeks, w hile in 5 other clinics w ith
poorer survival rates, infants w ith GA 35
w eeks or less req u ired screening.
In high-incom e countries th at screen in
fants w ith G A less th a n 3 2 w eeks, o n ly 5%
to 10% of th e in fan ts n eed tre a tm e n t,4 and
m an y fragile babies w h o w ill never develop
sig h t-th re ate n in g ROP u n d e rg o rep eated
p ain fu l an d stressfu l eye ex am in atio n s.5
Based on the finding of the association
betw een p o o r early w eig h t gain,6 low se
ru m insulin-like grow th factor I, and ROP
and in an attem p t to refine ROP screening,
the algorithm W IN R O P (w eight, in su lin
like grow th factor I, neonatal, ROP) was de
veloped an d validation of its ability to p re
d ict severe ROP w as p erfo rm ed .7,8 Later,
W IN RO P w as found to function w ell using
only w eights,9 allowing blood sam pling and
analyses to be om itted. Studies validating
W INROP in 3 different populations w ith GA
less th an 32 w eeks have been published. In
one Swedish9 and one US population,10sen
sitivity of 100% and specificity of 84.5% and
81.7%, respectively, w ere found, and in a
Brazilian stu d y ,11 sensitivity w as 90.5% and
specificity w as 55.0%.
T he aim of th is s tu d y w as to validate
W IN R O P reg ard in g its ability to p red ic t
W W W .A RCHO PHTHA LM O L.CO M
© 2 0 1 2 A m erican M edical A ssociation . A ll rights reserved.
D ownloaded From: http://archopht.jam anetw ork.com / by a Universidad de G uadalajara U ser on 03/11/2014
Acta Neurol Belg (2013) 113:19-23
DOI 10.1007/s13760-012-0110-5
O R IG IN A L A R T IC L E
Atypical forms of the osmotic demyelination syndrome
Jose L. Ruiz-Sandoval • Erwin Chiquete • Lucia E. Alvarez-Palazuelos •
Miguel A. Andrade-Ramos • Luis R. Rodriguez-Rubio
Received: 27 March 2012/Accepted: 22 June 2012/Published online: 20 July 2012
© Belgian Neurological Society 2012
Abstract
O sm otic dem yelination syndrom e (ODS) is the
dam age over the central nervous system caused by several
electrolytes, m etabolic and toxic disorders. W e aim ed to
describe cases o f unusual form s o f O D S. In a 9 -year period,
25 consecutive patients w ith ODS (15 m en; m ean age
42 years) w ere registered in our referral institution, am ong
them , four (16 %) w ith atypical neuroim aging findings
w ere abstracted for this com m unication. N one o f them
presented cardiorespiratory arrest, head traum a, seizures,
neurom yelitis optica spectrum or contact w ith toxic
chem icals. C ase 1 was a 33-year-old alcoholic m an w ithout
hypertension or electrolyte im balance, w ho presented a
classic central pontine m yelinolysis (CPM ) and a h em o r
rhage w ithin the pons. C ase 2 was a 34-year-old alcoholic
m an w ith hypoglycem ia and hyponatrem ia w ho presented
C PM and diffuse bihem ispheric extrapontine m yelinolysis
(EPM ) after correction o f serum sodium . C ase 3 was a
52-year-old w om an w ith m ild hypokalem ia and h y p o n a
trem ia (inadequately corrected), w ho presented a p ed u n
cular and cerebellar EPM . C ase 4 was a 67-year-old
w om an w ho had a suicidal attem pt w ith antidepressants
and carbam azepine w ithout im paired consciousness, w ho
com plicated w ith m ild hyponatrem ia associated w ith a
classical C PM and a spinal cord EPM . C ase 2 died and the
rest rem ained w ith variable neurological im pairm ents at
last follow -up visit. W ith m odern neuroim aging, the
so-called atypical form s o f ODS m ay not be as rare as
J. L. Ruiz-Sandoval (& ) • E. Chiquete •
L. E. Alvarez-Palazuelos • M. A. Andrade-Ramos •
L. R. Rodriguez-Rubio
Servicio de Neurologia y Neurocirugia, Hospital Civil de
Guadalajara ‘‘Fray Antonio Alcalde’’, Hospital 278, Guadalajara,
Jalisco 44280, Mexico
p reviously thought; how ever, they could have a m ore
adverse outcom e than the classical ODS.
Keywords
C entral pontine m yelinolysis • E xtrapontine
m yelinolysis • N euroim aging • O sm otic dem yelination •
O sm otic m yelinolysis
Introduction
O sm otic dem yelination syndrom e (ODS) is the term that
b etter describes the dam age that over the central nervous
system cause m ultiple electrolytes, m etabolic and toxic
disorders. Since the original description in 1959 b y A dam s
et al. [1], and later in 1979 by W right et al. [2], central
p ontine (CPM ) and extrapontine m yelinolysis (EPM ),
respectively, have been reported as the com m on form s o f
ODS. R apid correction o f hyponatrem ia w as the first rec
ognized risk factor, b u t it is currently know n that ODS can
occur even w ith an ‘‘adequate’’ correction o f hyponatrem ia
[3] and in the absence o f serum sodium im balances [4 , 5].
H istopathologically, C PM is an axonal-sparing n o n
inflam m atory degeneration o f oligodendrocytes localized
in the basis pontis [5 ]. T he lesions are typically sym m et
rical and can spread to other anatom ical areas such as
cerebellum and supratentorial structures. This spread rep
resents the m ain concept o f E PM [4 , 5].
ODS can b e suspected on CT, b ut M R I is the technique
o f choice that suggests a prem ortem diagnosis o f m yelinolysis; lesions w ith hypointense signals are seen on T1
and they are hyperintense on T 2-w eighted M R I. Since
ODS is n ot an inflam m atory process, the lesions are classi
cally non-enhancing after gadolinium adm inistration [4 , 6].
These neuroim aging characteristics correspond pretty w ell
w ith those observed in autopsy investigations [4 ]. Thus,
^ Springer
CLINICAL SCIENCES
Prediction of Retinopathy of Prematurity Using the
Screening Algorithm WINROP in a Mexican
Population of Preterm Infants
L u z Consuelo Zepeda-Romero, MD, MSc; A nna-Lena Hdrd, MD, PhD; Larissa M aria G om ez-R uiz, MD;
Jose Alfonso G utierrez-Padilla, MD, MSc; Eusebio Angulo-Castellanos, MD; Juan Carlos Barrera-de-Leon, MD, PhD;
Juan M anuel Ram irez-Valdivia, MD; Cesareo G onzalez-Bernal, MD; Claudia Ivette Valtierra-Santiago, MD;
E speranza Garnica-Garcia, MD; Chatarina Lofqvist, PhD; A nn Hellstrom , MD, PhD
O b je c tiv e : T o re tro sp e c tiv e ly v alidate th e W IN R O P
(w eight, in su lin -lik e g ro w th factor I, neo n atal, retin o p a
th y of p re m a tu rity [RO P]) algorithm in id en tificatio n of
type 1 ROP in a M exican p o p u la tio n of p rete rm infants.
W IN R O P alg o rith m co rrectly id en tified type 1 ROP in
84.7% of very p rete rm in fan ts b u t in o nly 5.3% of m o d
erately p rete rm infants. F or in fan ts w ith GA less th a n 32
w eeks, th e specificity w as 26.6% , an d for th o se w ith GA
32 w eeks or m ore, it w as 88.3%.
M eth o d s: In infants adm itted to the neonatal intensive
care u nit atH ospital Civil de Guadalajara from 2005 to 2010,
w eight m easurem ents h ad been recorded once w eekly for
192 very preterm infants (gestational age [GA] < 3 2 weeks)
and for 160 m oderately p reterm infants (GA > 3 2 weeks).
Repeated eye exam inations had been perform ed and m axi
m al ROP stage h ad been recorded. D ata are p a rt of a casecontrol database for severe ROP risk factors.
Co n clu sio ns: In th is M exican p o p u la tio n of p rete rm in
fants, W IN R O P d etected type 1 ROP early in 84.7% of
very p reterm infants an d correctly identified 26.6% of in
fants w h o d id n o t develop type 1 ROP. U n ce rtain ties in
d atin g of p reg n an cies an d differences in p o stn a ta l co n
d itio n s m a y b e fa c to rs e x p la in in g th e d iffe re n t o u t
com es of W IN R O P in th is p o p u latio n .
R e su lts: T ype 1 ROP w as fo u n d in 51.0% of very p re
te rm a n d 35.6% of m o d e ra te ly p re te rm in fan ts. T h e
A rch Ophthalmol. 2012;130(6):720-723
Author Affiliations:
Retinopathy of Prematurity
Clinic and Blindness Prevention
(Drs Zepeda-Romero,
Valtierra-Santiago, and
Garnica-Garcia), Departments
of Neonatology, UnidadJ. I.
Menchaca (Drs Gomez-Ruiz
and Ramirez-Valdivia) and
Unidad F. Antonio Alcalde
(Drs Gutierrez-Padilla and
Angulo-Castellanos), Hospital
Civil de Guadalajara, Centro
Universitario de Ciencias de la
Salud, Universidad de
Guadalajara, and Department of
Neonatology, Hospital Materno
Infantil Esperanza Lopez
Mateos (Drs Barrera-de-Leon
and Gonzalez-Bernal),
Guadalajara, Jalisco, Mexico;
and Department of
Ophthalmology, Institute of
Neuroscience and Physiology,
University of Gothenburg,
Gothenburg, Sweden (Drs Hard,
Lofqvist, and Hellstrom).
R
ETINOPATHY OF PREMATU
rity (ROP) is a m ajor cause
of life-long blindness; its fre
q u en c y is stro n g ly associ
a te d w ith th e q u a lity of
health care. In high-incom e countries, w here
m a n y very im m atu re babies survive, se
vere ROP affects the m o st im m ature, and
screen in g an d trea tm e n t p ro g ram s m ake
b lin d n e ss rare. In m id d le-in co m e c o u n
tries, health care is good en o u g h for su r
vival of som e extremely prem ature and more
m a tu re babies1 b u t is insufficient in p re
venting ROP, leading to an increased preva
lence of ROP in m ore m ature babies; an epi
dem ic of ROP-related blindness is presently
seen in these countries. In the poorest parts
of the w orld, w here im m ature babies do n ot
survive, ROP is n o t a problem .2
C urrent screening program s are based on
gestational age (GA) and/or b irth w eight
(BW) but, because of national differences
in socioeconom ic status and quality of care,
different countries need different screen
ing criteria.2 T he disadvantage of u sin g GA
for national screening criteria w as recently
show n in a study3 from Rio de Janeiro. Two
clinics w ith high survival rates had n o in
fants w ith type 1 ROP w hose GA w as m ore
ARCH O PH TH A LM O L /V O L 130 (N O . 6), JU N E 2012
720
th an 32 weeks, w hile in 5 other clinics w ith
poorer survival rates, infants w ith GA 35
w eeks or less req u ired screening.
In high-incom e countries th at screen in
fants w ith G A less th a n 3 2 w eeks, o n ly 5%
to 10% of th e in fan ts n eed tre a tm e n t,4 and
m an y fragile babies w h o w ill never develop
sig h t-th re ate n in g ROP u n d e rg o rep eated
p ain fu l an d stressfu l eye ex am in atio n s.5
Based on the finding of the association
betw een p o o r early w eig h t gain,6 low se
ru m insulin-like grow th factor I, and ROP
and in an attem p t to refine ROP screening,
the algorithm W IN R O P (w eight, in su lin
like grow th factor I, neonatal, ROP) was de
veloped an d validation of its ability to p re
d ict severe ROP w as p erfo rm ed .7,8 Later,
W IN RO P w as found to function w ell using
only w eights,9 allowing blood sam pling and
analyses to be om itted. Studies validating
W INROP in 3 different populations w ith GA
less th an 32 w eeks have been published. In
one Swedish9 and one US population,10sen
sitivity of 100% and specificity of 84.5% and
81.7%, respectively, w ere found, and in a
Brazilian stu d y ,11 sensitivity w as 90.5% and
specificity w as 55.0%.
T he aim of th is s tu d y w as to validate
W IN R O P reg ard in g its ability to p red ic t
W W W .A RCHO PHTHA LM O L.CO M
© 2 0 1 2 A m erican M edical A ssociation . A ll rights reserved.
D ownloaded From: http://archopht.jam anetw ork.com / by a Universidad de G uadalajara U ser on 03/11/2014
C lin ical T h erap eu tics/V o lu m e 3 4 , N u m ber 1, 2 0 1 2
Changes in MIC Within a Global Collection of Acinetobacter
baumannii Collected as Part of the Tigecycline Evaluation
and Surveillance Trial, 2 0 0 4 to 2 0 0 9
Rayo M orfin-O tero, M D 1; and M ich aelJ. Dowzicky, M S 2
1Hospital Civil de Guadalajara, Fray Antonio Alcalde, Guadalajara, Jalisco, Mexico; and 2 PfizerInc,
Collegeville, Pennyslvania
A BSTRACT
Background: The Tigecycline Evaluation and Sur
veillance Trial (T.E.S.T.) began in 2004 to m onitor
global antim icrobial susceptibility to tigecycline and a
range of com parator antimicrobials among gram -pos
itive and gram-negative organisms.
Objective: The aim of this study was to report
changes in M IC for tigecycline and other an ti
m icrobial agents am ong 10,149 Acinetobacter bau
m annii isolates collected globally betw een 2004 and
2009.
Methods: M ICs of 10,149 isolates were deter
m ined locally using Clinical L aboratory and Stan
dards Institute (CLSI) m ethodologies. A ntim icrobial
susceptibility was ascertained according to CLSI in
terpretive criteria (no interpretive criteria have
been approved for tigecycline against Acinetobacter
sp p ).
Results: Increases in resistance were noted for most
antim icrobial agents in all regions. Significant (P <
0.05) increases in percentage resistance were reported
for all antim icrobial agents globally. The smallest
changes in cumulative geometric mean MICs were re
ported for tigecycline (0.2 mg/L) and cefepime (3.5
mg/L). M IC 90s were at the top of their testing ranges
for m ost agents against both m ultidrug-resistant
(MDR) and non-M D R isolates; only tigecycline
showed little change in M IC90 between M D R (2 mg/L)
and non-M D R (1 mg/L) isolates. Resistance was higher
among isolates from the intensive care unit (ICU) com
pared with non-ICU isolates.
Conclusion: These findings suggest that resistance is
increasing among clinical isolates of A baumannii
globally. Although resistance to tigecycline has been
reported in the treatm ent of infections caused by A
baumannii, it retains in vitro activity against this
pathogen. (Clin Ther. 2012;34:101-112) © 2012
Elsevier HS Journals, Inc. All rights reserved.
January 2012
Key words: Acinetobacter, antim icrobial resistance,
MIC creep, surveillance, tigecycline.
IN T R O D U C T IO N
Acinetobacter baumannii is an uncom m on but im por
tant pathogen, as it is intrinsically resistant (any innate
resistance mechanism[s]) to many antimicrobials, in
cluding penicillins, cephalosporins, and fluoroquinolones.1 It is often associated with the intensive care unit
(ICU), and A baumannii infections most frequently affect
the respiratory tract of intubated patients.2 The intrinsic
resistance treatment choices are limited, with carbapenem resistance increasing as a result of the spread of
^-lactamase-producing clones,3 leaving agents such as
colistin and polymyxin B as therapeutic options.4,5
Data presented in this study are taken from the Tigecycline Evaluation and Surveillance Trial (T.E.S.T.).
T.E.S.T. began in 2004 to monitor antimicrobial suscep
tibility globally among a range of gram-positive and
gram-negative organisms to a panel of antimicrobial
agents. Tigecycline is licensed for use in the United States
(complicated skin and skin structure infections, intraab
dominal infections, and community-acquired bacterial
pneumonia), Europe (complicated skin and skin structure
and intraabdominal infections), and numerous other
countries worldwide. However, tigecycline is not indi
cated for the treatment of infections caused by Acinetobacter spp.
Herein we examined the M IC profile of A baumannii collected globally between 2004 and 2009 utilizing
traditional MIC categories (MIC50, M IC 90) as well as
geometric mean MICs. We also examined 2 im portant
Accepted forpublication N ovem ber21, 2011.
d o i:1 0 .1 0 1 6 / j.c lin t h e r a .2 0 1 1.1 1 .0 2 8
0 1 4 9 - 2 9 1 8 / $ - see fro n t m a tte r
© 2 0 1 2 Else v ie r H S J o u r n a ls , In c. A ll rig h ts reserved.
101
Cerebral Venous Thrombosis in a Mexican Multicenter Registry
of Acute Cerebrovascular Disease: The RENAMEVASC Study
Jose L. Ruiz-Sandoval, m d ,*+ Erwin Chiquete, m d , PhD,*
L. Jacqueline Banuelos-Becerra, m d ,J Carolina Torres-Anguiano, m d ,J
Christian Gonzalez-Padilla, m d ,J Antonio Arauz, m d ,§
Carolina Leon-Jimenez, m d , || Luis M. Murillo-Bonilla, m d , m s c ,**
Jorge Villarreal-Careaga, m d ,++ Fernando Barinagarrementeria, m d ,J J
Carlos Cantu-Brito, m d , PhD §§ and the RENAMEVASC investigators||||
Background: Cerebral venous thrombosis (CVT) is a rare form of cerebrovascular
disease that is usually not mentioned in multicenter registries on all-type acute
stroke. We aimed to describe the experience on hospitalized patients w ith CVT in
a Mexican multicenter registry on acute cerebrovascular disease. Methods: CVT
patients were selected from the RENAMEVASC registry, which was conducted
between 2002 and 2004 in 25 Mexican hospitals. Risk factors, neuroimaging,
and 30-day outcome as assessed by the modified Rankin scale (mRS) were analyzed.
Results: Among 2000 all-type acute stroke patients, 59 (3%; 95% CI, 2.3-3.8%) had
CVT (50 women; female:male ratio, 5:1; m edian age, 31 years). Puerperium (42%),
contraceptive use (18%), and pregnancy (12%) were the main risk factors in women.
In 67% of men, CVT was registered as idiopathic, but thrombophilia assessment was
suboptimal. Longitudinal superior sinus was the most frequent thrombosis location
(78%). Extensive (>5 cm) venous infarction occurred in 36% of patients. Only 81% of
patients received anticoagulation since the acute phase, and 3% needed decompres
sive craniectomy. Mechanical ventilation (13.6%), pneum onia (10.2%) and systemic
thromboembolism (8.5%) were the main in-hospital complications. The 30-day case
fatality rate was 3% (2 patients; 95% CI, 0.23-12.2%). In a Cox proportional hazards
model, only age <40 years was associated w ith a mRS score of 0 to 2 (functional in
dependence; rate ratio, 3.46; 95% CI, 1.34-8.92). Conclusions: The relative frequency
of CVT and the associated in-hospital complications were higher than in other reg
istries. Thrombophilia assessment and acute treatment was suboptimal. Young age
is the main determ inant of a good short-term outcome. Key Words: Cerebral veins—
cerebral venous thrombosis—cerebrovascular disease—cranial sinuses—outcome—
stroke.
© 2012 by National Stroke Association
F ro m th e ’ D e p a r tm e n t o f N e u ro lo g y , H o s p ita l C iv il d e G u a d a la ja ra
''F ra y A n to n io A lc a ld e ,'', tD e p a r tm e n t o f N e u ro sc ie n c e s , C e n tro U n i
v e rs ita rio d e C ie n cia s d e la S a lu d , U n iv e rs id a d d e G u a d a la ja ra ,
C ity, M ex ico ; a n d |||| R EN A M E V A SC in v e s tig a to rs a re lis te d in th e A p
p e n d ix .
R ec e iv e d M a y 2, 2010; re v is io n re c e iv e d D e c e m b e r 23, 2010;
^ D e p a r tm e n t o f In te rn a l M e d ic in e , H o s p ita l C iv il d e G u a d a la ja ra
a c c e p te d J a n u a ry 13, 2011.
''F ra y A n to n io A lc a ld e ,'' G u a d a la ja ra , M ex ico , §Stroke C lin ic , In s ti
tu to N a c io n a l d e N e u ro lo g i'a y N e u ro c iru g ia , M ex ic o C ity, M exico,
A d d re s s c o rre s p o n d e n c e to Jose L. R u iz -S a n d o v a l, M D , S erv icio d e
N e u ro lo g i'a y N e u ro c iru g ia , H o s p ita l C ivil ''F ra y A n to n io A lc a ld e ,''
||D e p a r tm e n t o f N e u ro lo g y , H o s p ita l V a le n tin G o m e z F a ria s, Z a p o -
H o s p ita l
p a n , M ex ico , ’ ’ E n d o v a s c u la r T h e ra p y , In s titu to P a n v a s c u la r d e O cci-
jo ru lej-1 n j@ p ro d ig y .n e t.m x .
d e n te a n d U n iv e rs id a d A u to n o m a d e G u a d a la ja ra , G u a d a la ja ra ,
278,
44280
G u a d a la ja ra ,
Jalisco,
M exico.
E-m ail:
10 5 2 -3 0 5 7 /$ - see fro n t m a tte r
M ex ic o , t t D e p a r t m e n t o f N e u ro lo g y , H o s p ita l G e n e ra l d e C u lia c a n ,
© 2012 b y N a tio n a l S tro k e A ss o c ia tio n
C u lia c a n , ^ H o s p i t a l A n g e le s Q u e re ta ro , Q u e re ta ro , § § In stitu to N a
tio n a l d e C ie n cia s M e d ic a s y N u tric io n ''S a lv a d o r Z u b ir a n ,'' M ex ico
d o i:1 0 .1 0 1 6 /j.jstrokecerebrovasdis.2011.01.001
Journal of Stroke and Cerebrovascular Diseases, Vol. 21, No. 5 (July), 2012: pp 395-400
395
H in d a w i P u b lish in g C o rp o ra tio n
A ID S R esearch a n d T reatm en t
V olum e 2013, A rticle ID 613278, 6 pages
http://dx.doi.org/10.1155/2013/613278
Clinical Study
Differences in Salivary Flow Level, Xerostomia, and
Flavor Alteration in Mexican HIV Patients Who Did or
Did Not Receive Antiretroviral Therapy
Sandra Lopez-Verdin,1 Jaime Andrade-Villanueva,2 Ana Lourdes Zamora-Perez,1 Ronell
Bologna-Molina,3,4 Jose Justino Cervantes-Cabrera,1 and Nelly Molina-Frechero5
1Instituto de Investigacion en Odontologia, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara,
44340 Guadalajara, JAL, Mexico
2 Unidad de VIH del Hospital Civil de Guadalajara “Fray Antonio Alcalde”, 44340 Guadalajara, JAL, Mexico
3Departamento de Investigacion, Facultad de Odontologia, Universidad Juarez del Estado de Durango, 34100 Durango, DGO, Mexico
4Facultad de Odontologia, Universidad de la Republica (UDELAR), 11600 Montevideo, MVD, Uruguay
5Departamento de Atencian a la Salud, Universidad Autonoma Metropolitana, Xochimilco, Calz del Hueso 1100 Villa Quietud,
Coyoacan, 04960 Ciudad de Mexico, DF, Mexico
Correspondence should be addressed to Nelly Molina-Frechero; [email protected]
Received 12 April 2013; Accepted 17 November 2013
Academic Editor: Guido Poli
Copyright © 2013 Sandra Lopez-Verdin et al. h i s is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.
Introduction. Objective and subjective alterations related to salivary flow have been reported in patients infected with human
immunodeficiency virus (HIV), and these alterations are associated with the introduction of antiretroviral therapy. h e aim of the
current study was to discern whether these alterations are disease induced or secondary to drug therapy. Objective. h e objective
was to determine the relationships between low salivary flow, xerostomia, and flavor alterations in HIV patients who did or did
not receive antiretroviral therapy Materials and Methods. In this cross-sectional study, HIV patients were divided into two groups
based on whether they had received antiretroviral therapy. h o s e patients with a previous diagnosis of any salivary gland disease
were excluded. A survey was used to assess subjective variables, and colorimetry and salivary flow rates were measured using the
Schirmer global test. Results. A total of 293 patients were included. h e therapy group showed a significantly lower average salivary
flow than did the group without therapy, and we observed that the flow rate tended to decrease after one year of therapy. h e results
were not conclusive, despite significant differences in xerostomia and flavor alteration between the groups. Conclusion. h e study
results suggest that antiretroviral therapy can cause cumulative damage that affects the amount of salivary flow.
1. Introduction
Oral diseases related to human immunodeficiency virus
(HIV) infection have been extensively described in the
clearing house classification [1] and have since been used as
indicators of this condition. Additionally, both objective and
subjective alterations related to salivary flow (hyposalivation,
xerostomia, and dysgeusia) have been reported in these
patients but have not yet been completely linked to the advent
of highly active antiretroviral therapy (HAART). It is difficult
to discern whether these alterations are part of the course of
the disease or therapeutic side effects; various studies, which
can be divided into two theories, have been performed on this
subject.
On the one hand, certain authors theorize that high
levels of HIV RNA might reside in the lymph nodes that are
enclosed within the parotid gland during embryonic devel
opment, thus directly infecting the salivary gland with HIV
[2- 6]. On the other hand, others suggest an indirect process
in which increased CD8+ lymphocyte infiltration into these
Gomez-Rosales et al. Journal of Medical Case Reports 2013, 7 :290
http://www.jmedicalcasereports.eom/content/7/1/290
JO URN AL OF M EDICAL
CASE REPORTS
CASE REPORT
Open Access
Intrathoracic intestinal diverticulum in a late
presenting congenital bilateral diaphragmatic
hernia: a case report
Ruth G om ez-Rosales, Santiago Petersen-M orfin*, M iguel Haro-Garcia, A lejandra O rtiz-Gonzalez,
Alejandro Porras-Ruiz and Roberto G onzalez-Chavez
Abstract
Introduction: Hernias com prise 3% of all defects of the diaphragm . Bilateral hernias are extrem ely rare and usually
occur in children. Here w e present a case report of a bilateral Morgagni-Larrey diaphragm atic hernia with an
intrathoracic intestinal diverticulum and late presentation. To the best of our knowledge this is the first report of this
type.
Case presentation: A 37-year-old Hispanic man w as admitted to our em ergency departm ent with a 4-day history
o f obstipation, abdominal pain, distension, nausea, and vom iting. During the initial evaluation, chest and abdominal
X-rays w ere performed, w hich revealed intestinal displacement into his right and left hemithorax. During laparotomy, a
Morgagni-Larrey hernia with a sac was found. His small bowel with a large diverticulum, transverse colon, descending
colon, and epiploic fat w ere herniated into his thorax. Tissues w ere returned to his abdominal cavity and the hernia
defects w ere corrected with running non-absorbable sutures. He had no postoperative complications.
Conclusions: Bilateral congenital diaphragmatic hernias remain extremely rare. However, they should be considered in
adult patients with intestinal obstruction even w hen respiratory symptoms are absent. This is the first description of a
patient with a prolapsed intestinal diverticulum and bilateral diaphragmatic hernias.
Keywords: Bilateral congenital diaphragmatic hernia, Congenital diaphragmatic hernia, Late presenting diaphragmatic
hernia, Morgagni-Larrey hernia
Introduction
Case presentation
F our types o f diaphragm atic defects are docum ented.
Bochdalek's h ern ia s re p re se n t 90% of cases, an d M orgagni's h ern ia s com prise 2% to 3% [1]. In m o st cases,
d iap h rag m atic h ern ia s o cc u r on th e rig h t side (10:1
ratio, right: left) [2]. W h e n th e defect is b ilateral it is
k n o w n as a M orgagni-L arrey type, w h ich re p re se n ts
0.12% o f congenital diap h rag m atic h ern ia s [3]. T h is type
o f h e rn ia is com m o n ly diagnosed in p ed iatric p atien ts,
an d late p re se n ta tio n is extrem ely rare [4]. Im po rtan tly ,
an in te stin al div erticu lu m an d b ilateral h e rn ia tio n have
n ev er b een re p o rte d together.
A 37-year-old H ispanic m an w ho has h u m a n im m u n o
deficiency virus w as ad m itted to o u r em ergency d ep a rt
m e n t w ith a 4 -day history of obstipation, abdom inal
pain, distension, nausea, and vom iting. H e did n o t rep o rt
any episodes o f sh o rtn ess of breath, however, h e re
p o rted tran sien t tachycardia w h en lying on his rig h t or
left side. O n physical exam ination, abdom inal distension
in his rig h t u p p er q u a d ra n t w as observed. Bowel p eri
stalsis w as n o ted d u rin g rig h t chest auscultation. H e
com plained of epigastric pain o n palpation.
D u rin g th e initial exam ination, chest an d abdom inal
X-rays revealed in testin al d isplacem ent in to his rig h t
and left h em ith o rax an d air-fluid areas in b o th his abdo
m en an d th o rax (Figure 1). C o m p u ted to m o g rap h y (C T )
im ages revealed a large seg m en t of sm all bow el h ern ia t
ing in to his left h em ith o rax (Figure 2) and a p o rtio n of
* C o rre sp o n d e n c e : san tia g o p e te rse n @ g m a il.c o m
D e p a rtm e n t o f Su rg ery, Hospital Civil d e G u a d a la ja ra Fray A n to n io A lca ld e,
C a lle H o sp ital 278, G u ad a la ja ra , C P 44 2 8 0 , M exico
B io M ed Central
© 2013 G om ez-R osales e t al.; licen see BioM ed C en tral Ltd. Th is is an o p e n acce ss article d istrib u ted u nd er th e term s o f the
C reative C o m m o n s A ttrib u tio n Lice nse (h ttp ://crea tiveco m m o n s.o rg /lice n ses/b y /2.0 ), w h ic h p erm its u nrestricted use,
d istrib u tion , and rep ro d u ctio n in a n y m e d iu m , p rovid ed th e o rig in a l w o rk is p ro p erly cited.
G Model
REUMA-619;
No. o f Pages 14
ARTICLE IN PRESS
R eum atol Clin. 2013;xxx(xx):xxx-xxx
Reumatologia
Reumatologia cirnica
ELSEVIER
1X 1Y\ 1A
w w w . i e .......
Ic a . o i g
Cirnica
«*=—
I uttt-i A
0
Original
Actualizacion de la Guia M exicana para el Tratam iento Farmacologico
de la Artritis Reum atoide del Colegio M exicano de Reumatologfa
Mario H. Cardiel3, Alejandro Diaz-Borjonb, Monica Vazquez del Mercado Espinosac,
Jorge Ivan Gamez-Navad, Leonor A. Barile Fabrise, Cesar Pacheco Tenaf, Luis H. Silveira Torreg,
Virginia Pascual Ramosh, Maria Victoria Goycochea Robles1, Jorge Enrique Aguilar Arreolaj,
Veronica Gonzalez D iazk, Jose Alvarez Nemegyei*, Laura del Carmen Gonzalez-Lopezm,
Mario Salazar Paramon, Margarita Portela Hernandezo, Zully Castro Colinp,
Daniel Xavier Xibille Friedm anq, Everardo Alvarez Hernandezr, Julio Casasola Vargass,
Miguel Cortes Hernandez1, Diana E. Flores-Alvaradou, Laura A. Martinez M artinezv,
David Vega-Moralesw, Luis Felipe Flores-Suarezx, Gabriel Medrano Ramirezy,
Antonio Barrera Cruzz, Adolfo Garcia GonzalezA, Susana Marisela Lopez LopezB,
Alejandra Rosete ReyesC y Rolando Espinosa MoralesD *
aJefe de la Unidad de Investigation «Dr. Mario Alv izouri Munoz», Hospital General «Dr. M iguel S i lva», Secretara de Salud de Michoacdn, Moreli a, M i choacdn, M ex ico
b Profesor Titular del Curso de Especializacion en Medicina Interna, Hospital Angeles Lomas/UNAM, Hu ixqu i lucan, Estado de Mex i co, Mex i co
c Reumatologo del Nuevo Hospital Civil de Guadalajara «Dr. Juan I. Menchaca», Profesor del Centro Universitario de Ciencias de la Salud, Uni vers i dad de Guadalajara. Jefa del Instituto
de Investigation en Reum atologa y del Sistema Musculo Esqueletico, Centro Universitario de Ci encias de la Salud, Uni vers i dad de Guadalajara, Guadalajara, Mex i co
d Investigador de UMAE, Hospital de Especialidades Centro Medico National de Occidente, IMSS. Profesor del Centro Universitario de Ciencias de la Salud, Uni vers idad de Guadalajara,
Guadalajara, Mexico
e Reumatologa y Doctora en Ciencias de la Salud, Jefa del departam ento de R eum atologa HE CMNSXXI IMSS, Profesora titular del curso de especializacion en Reum atologa, miembro
titular del Sistema N ational de Investigadores, Mexico Distrito Federal, Mexico
f Reumatologo, Profesor-investigador de la Facultad de Medicina de la Universidad A utonom a de Chihuahua, Chihuahua, Mexico
g Medico adjunto, Profesor adjunto Curso de Reumatologa, Departamento de Reumatologia, Instituto N ational de Cardiologia Ignacio Chdvez, Mex i co Distrito Federal, Mex i co
h Medico adscrito del Departamento de Inm unologa y Reumatologa, Instituto N ational de Ciencias M ed i cas y Nutricion Salvador Zub i rdn, M ex ico Distrito Federal, Mex i co
i Reumatologa, investigadora titular A, adscrita a la Unidad de Investigation en Epidemiologia Cli n i ca del Hospital General Regional Num. 1. «Dr. Carlos McGregor Sanchez Navarro»,
IMSS, Mexico Distrito Federal, Mexico
j Reumatologo del N uevo Hospital Civil de Guadalajara «Dr. Juan I. Menchaca», Profesor del Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara,
Mexico
k Reumatologa delAntiguo Hospital Civil de Guadalajara «Fray Antonio Alcalde», Guadalajara, Mexico
1Profesor Investigador de la escuela de Medicina de la Universidad Andhuac-M ayab, Merida, Yucatan, Mexico
m Reumatologo del Hospital General Regional 110 del IMSS, Profesor del Centro Universitario de Ciencias de la Salud, Uni vers i dad de Guadalajara, Guadalajara, M ex i co
nJefe de la Division de Investigation de la UMAE, Hospital de Especialidades Centro M ed ico National de Occidente, IMSS. Profesor del Centro Universitario de Ciencias de la Salud,
Universidad de Guadalajara, Guadalajara, Mexico
o Adscrita al D epartamento de Reumatolog a del Hospital de Especialidades del CMN SXXI, Mexico Distrito Federal, Mexico
p Adscrita al Departamento de R eum atologa de HGZ 2 7 IMSS, Mexico Distrito Federal, Mexico
q D epartamento de Reumatolog a, Hospital General de Cuernavaca «Dr. Jose G. Parres», SSM, Morelos, Mexico
r Reumatologo, Hospital General de Mexico, Mexico Distrito Federal, Mexico
s Reumatologo, Hospital General de Mexico, Mexico Distrito Federal, Mexico
1Medicina Interna-Reum atologa, Profesor de Fisiologa Humana, Facultad de M ed ic i na, Universidad A utonom a de Estado de Morelos, Morelos, Mexico
u Profesora de Medicina Interna y Reumatolog a, Hospital Universitario «Jose E. Gonzdlez», Universidad Autonom a de Nuevo Leon, Monterrey, Nuevo Leon, Mexico
v Investigadora titular, Departamento de Reumatologia, Instituto N ational de Cardi olog ia Ignac i o Chdvez, Mex i co Distrito Federal, Mex i co
w Hospital Universitario «Jose E. Gonzdlez», Universidad Autonom a de Nuevo Leon, Monterrey, Nuevo Leon, Mexico
x Reumatologo, Jefe de la Clinica de Vasculitis Sistemicas Primarias, Instituto National de Enfermedades Respiratorias, Investigador en Ci enc i as M ed i cas «D», Mex i co Distrito Federal,
Mexico
y Medico internista y reumatologo, Adscrito al Servicio de Reumatologia, Hospital General de Mexico. Presidente del Consejo Mex i cano de Reum atologa, M ex i co Distrito Federal,
Mexico
z Reumatologo, Maestro en Ciencias Medicas, Coordinador de Programas Medicos, adscrito a la Division de Excelencia Clinica, area de Desarrollo de Gui as de Prdctica Cli nica de la
Coordinacion de Unidades Medicas de Alta Especialidad del IMSS , Mexico Distrito Federal, Mexico
A Reumatologo, Doctor en Ciencias Medicas, Hospital General de Zona IMSS, La Paz, Baja California Sur, Mexico
B Reumatologa adscrita al servicio de Reumatolog a, Hospital Angeles del Carmen, Guadalajara, Jalisco, Mexico
CReumatologa especializada en Fdrmaco-vigilancia, Jefe de operaciones Centro de Investigation en Farmacologa y Biotecnologa,
Sur, Mexico Distrito Federal, Mexico
DProfesor titular de Reumatologia, UNAM, Jefe del Departamento de Reum atologa, Instituto N ational de Rehabilitation, Mexico Distrito Federal, Mexico
* A utor para correspondencia.
Correo electronico: rolespi@ yahoo.com (R. Espinosa Morales).
1699-258X/$ - see front m a tte r © 2013 Elsevier Espana, S.L. Todos los derechos reservados.
http://dx.doi.org/10.1016/j.reum a.2013.10.006
Como citar este articulo: Cardiel MH, et al. Actualizacion de la Guia Mexicana para el Tratamiento Farmacologico de la Artritis Reumatoide
del Colegio Mexicano de Reumatologia. Reumatol Clin. 2013. http://dx.doi.org/10.1016/j.reuma.2013.10.006
American
Journal
of
ISSN 1507-6164
© Am J Case Rep, 2013; 14: 354-358
DOI: 10.12659/AJCR.889261
Case
Reports
Received
2 0 1 3 .0 4 .0 6
Accepted
2 0 1 3 .0 5 .1 6
Published
2 0 1 3 .0 9 .0 9
A u th o rs ’ C o n trib u tio n :
S tu d y D esig n A
A B C D EF 1,2
A B C D EF 3
D a ta C o llectio n B
S ta t is tic a l A n a ly s is C
A B C D EF 1
Venous outflow obstruction and portopulmonary
hypertension after orthotopic liver
transplantation
Guadalupe Aguirre-Avalos
Marco Antonio Covarrubias-Velasco
Antonio Gerardo Rojas-Sanchez
D a ta In te rp re ta tio n D
1 In te n s iv e C are U n it, H o sp ita l C iv il de G u a d a la ja r a “ Fra y A n to n io A lc a ld e ” ,
G u a d a la ja r a Ja lisco , M exico
2 In ve stig a c io n en M icro b io lo g ia M e d ica , C en tro U n iv e rs ita rio d e C ie n c ia s d e la
S a lu d , U n ive rsid a d de G u a d a la ja ra , G u a d a la ja r a Ja lisco , M exico
3 T ra n sp la n t U n it, H o sp ita l C iv il de G u a d a la ja r a “ Fra y A n to n io A lc a ld e ” ,
M a n u s c rip t P re p a ra tio n E
G u a d a la ja r a Ja lisco , M exico
L ite ra tu r e S e a rc h F
F u n d s C o llectio n G
Corresponding Author:
Patient:
G u a d a lu p e A g uirre-A valo s, e-m ail: g a gu irreavalo s@ g m ail.co m and gaguirre@ cencar.udg.m x
Female, 54
Final Diagnosis:
Suprahepatic inferior vena cava anastomosis stricture
Symptoms:
Ascites • fatigue • lower limb edema • hepatomegaly
Medication:
Clinical Procedure:
Specialty:
Transplantology • Critical Care Medicine
Objective:
Unusual clinical course
Background:
Case Report:
Conclusions:
Key words:
Suprahepatic inferior vena cava anastomosis stricture is an unusual vascular complication after orthotopic liv
er transplantation with the "piggyback” technique. Clinical manifestations are dependent upon the severity of
the stenosis. Portopulmonary hypertension after orthotopic liver transplantation is a complication that carries
high mortality due to cardiopulmonary dysfunction. The pathogenesis of pulmonary vascular disorders after
orthotopic liver transplantation remains uncertain.
We report a case of acute right heart pressure overload after surgical correction of the suprahepatic inferior
vena cava anastomotic stricture in a 54-year-old woman who had preexisting pulmonary arterial hypertension
associated with portal hypertension after orthotopic liver transplantation. Twenty months posttransplantation,
she developed fatigue and progressive ascites. On admission, the patient had hepatomegaly, ascites, and low
er limb edema. Symptoms in the patient developed gradually over time.
Recurrent portal hypertension by vascular complications is a cause of pulmonary arterial hypertension after
orthotopic liver transplantation. Clinical manifestations of suprahepatic inferior vena cava anastomotic steno
sis are dependent upon their severity. Sildenafil is an effective drug for treatment of pulmonary arterial hyper
tension after portal hypertension by vascular complications.
liver transplantation • suprahepatic inferior vena cava • portopulmonary hypertension • pulmonary
arterial hypertension • acute cor pulmonale
Full-text PDF:
http://www.amjcaserep.com/download/index/idArt/889261
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T h is w o rk is licen sed u n d e r a C re a tive C o m m o n s A ttrib u tio n -N o n C o m m e rcia l-N o D e rivs 3 .0 U n p orted Licen se
H in d a w i P u b lish in g C o rp o ra tio n
Plastic S u rg ery In te rn a tio n a l
V olum e 2013, A rticle ID 861348, 5 pages
http://dx.doi.org/10.1155/2013/861348
Hindawi
Clinical Study
Effect of Abdominoplasty in the Lipid Profile of Patients with
Dyslipidemia
Guillermo Ramos-Gallardo, Ana Perez Verdin, Miguel Fuentes, Sergio Godinez Gutierrez,
Ana Rosa Ambriz-Plascencia, Ignacio Gonzalez-Garcia, Sonia Mericia Gomez-Fonseca,
Rosalio Madrigal, Luis Ivan Gonzalez-Reynoso, Sandra Figueroa, Xavier Toscano Igartua,
and Dector Francisco Jimenez Gutierrez
Plastic Surgery Department, Hospital Civil de Guadalajara Fray Antonio Alcalde, Calle Hospital 278, 44280 Guadalajara, JAL, Mexico
Correspondence should be addressed to Guillermo Ramos-Gallardo; [email protected]
Received 9 March 2013; Revised 22 April 2013; Accepted 23 April 2013
Academic Editor: Nicolo Scuderi
Copyright © 2013 Guillermo Ramos-Gallardo et al. h i s is an open access article distributed under the Creative Commons
Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is
properly cited.
Introduction. Dyslipidemia like other chronic degenerative diseases is pandemic in Latin America and around the world. A lot
of patients asking for body contouring surgery can be sick without knowing it. Objective. Observe the lipid profile of patients
with dyslipidemia, before and three months after an abdominoplasty. Methods. Patients candidate to an abdominoplasty without
morbid obesity were followed before and three months after the surgery. We compared the lipid profile, glucose, insulin, and HOMA
(cardiovascular risk marker) before and three months after the surgery. We used Student’s t test to compare the results. A P value
less than 0.05 was considered as significant. Results. Twenty-six patients were observed before and after the surgery. At the third
month, we found only statistical differences in LDL and triglyceride values (P 0.04 and P 0.03). h e rest of metabolic values did not
reach statistical significance. Conclusion. In this group of patients with dyslipidemia, at the third month, only LDL and triglyceride
values reached statistical significances. h e r e is no significant change in glucose, insulin, HOMA, cholesterol, VLDL, or HDL.
1. Introduction
3. Methods
Dyslipidemia is a silent pandemic affecting millions of people
around the world. h e r e is more than one factor predisposing
this serious problem, where not only diet, exercise, and
medications could solve it [1].
h e truth is that a lot of people can be sick without know
ing it. h e r e is controversy of the possible benefit of lipo
suction or abdominoplasty in the metabolism of glucose or
cholesterol. h e r e are no reports about the effect of abdom
inoplasty in the metabolism of patients with dyslipidemia.
A descriptive observational study was designed to follow up
the lipid profile of patients with dyslipidemia candidates to
a body contouring surgery as abdominoplasty. h e research
project was evaluated and approved by the ethics and research
committee of the Antiguo Hospital Civil de Guadalajara (file
number in the institution 112-11). h e ethics and research
committee evaluated all the research projects in the decen
tralized, academic, and public Antiguo Hospital Civil de
Guadalajara. It follows the guidelines according to the Health
Mexican Norm and the Helsinki ethical principles.
Abdominoplasty or lipoabdominoplasty is offered to
women to improve the body images in case of severe skin
laxity, excess fat, and flaccidity of the abdominal muscle
[2, 3]. We did not operate patients with morbid obesity, where
gastric bypass and other bariatric surgeries are suggested.
2. Objectives
Observe any possible change in the lipid profile, weight,
cardiovascular risk markers (HOMA), glucose, or insulin of
patients with dyslipidemia after an abdominoplasty.
D o cum ent d ow nloaded from n ttp ://zl.elsev ie r.es, d a y 11/U3/2U14. I his co p y is for p e rso n a l u se . A n y tra n sm issio n of th is docum ent by a n y m ed ia or form at is strictly prohibited.
Arch Cardiol Mex. 2013;83(4):263-266
CLINICAL RESEARCH
Evaluation of blood pressure measurements in first ambulatory
neurological consultations: A missed part of the physical
examination?
Angel Vargas-Sancheza, Erwin Ch iq ueteb, Gabriela E. Lopez-Corralesc,
Karina Carrillo-Lozad, Santiago Nunez-Velascod, Sol Ram irez-Ochoa3,
Ana Ochoa-Guzm and, J ose L. Ruiz-Sandovald,e *
a Department
b Department
o f Internal Medicine, Hospital Civil de Guadalajara Fray Antonio Alcalde, Guadalajara, Mexico
o f Neurology and Psychiatry, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Ciudad de
Mexico, Mexico
c Registered Nurse, Universidad Autonoma de Sinaloa, Culiacan, Sinaloa, Mexico
d Department o f Neurology, Hospital Civil de Guadalajara Fray Antonio Alcalde, Guadalajara, Mexico
e Department of Neurosciences, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara,
Mexico
Received 5 February 2013; accepted 29 April 2013
KEYW O RDS
Abstract
Blood pressure;
Hypertension;
Medical practice;
Mexico;
Outpatient
To obtain a blood pressure reading is mandatory during either the general or specia
lized physical examination. This study describes factors associated with the accomplishment of
blood pressure measurement in the first neurological consultation.
Methods: We studied first ambulatory neurology consultations in a Mexican referral hospital.
Demographic characteristics, diagnostic category of referral, final diagnosis and data on physical
examination were collected to establish a logistic regression analysis in order to identify factors
associated with the accomplishment of blood pressure measurement.
Results: Over 8 months 778 outpatients were studied. The most frequent diagnoses for first
consultation were headache (26%), epilepsy (14%) and stroke (13%). Only in 39% (n = 301) of the
outpatients blood pressure was registered, among them, 30% had normal blood pressure, 43%
had 121-139/81-89mmHg, 20% had 140-159/90-99mmHg and 7% had >160/100mmHg. The
independent factors that favored the practice of BP determination in multivariable analysis
were >65 years of age (odds ratio: 2.26; 95% confidence interval: 1.52-3.36) and headache
complaint (odds ratio: 1.81, 95% confidence interval: 1.30-2.53). Notably, only 43% of patients
with stroke had blood pressure registration, even when these stroke patients had blood pressure
readings, they had higher blood pressure than with other diagnoses (p <0.05).
Objective:
* Corresponding author at: Calle Hospital 278, Guadalajara, Jalisco, Postal Code: 44280, Mexico. Tel.: +52 33 3613 4016;
fax: +52 33 3614 1121.
E-mail address: [email protected] (J.L. Ruiz-Sandoval).
1405-9940/$ - see front m atter © 2013 Instituto Nacional de Cardiologia Ignacio Chavez. Published by M asson Doym a Mexico S.A. All rights reserved.
http://dx.doi.org/10.1016Zj.acmx.2013.04.005
Microbiology
Chemotherapy
Chemotherapy 2013;59:57-65
DOI' 10 1159/000351098
: '
R e c e iv e d :D e c e m b e r1 1 ,2 0 1 2
A c c e p te d a fter revision: M arch 2 6 ,2 0 1 3
P u b lis h e d o n lin e :J u ly 2 ,2 0 1 3
Acinetobacter baumannii Infections in a
Tertiary Care Hospital in Mexico over the
Past 13 Years
R' Morfm-Oteroa,b
M'D'Alcantar-Curielc M J'Rocha c C'M'Alpuche-Aranda c
J'I' Santos-Preciado c C Gayosso-Vazquezc J'R'Araiza-Navarro b
M' Flores-Vacab S. Esparza-Ahumadaa b
E. Gonzalez-Dfaza’ b
H'R' Perez-Gomeza’ b E' Rodrfguez-Noriegaa' b
aInfectious Diseases, Hospital Civil de Guadalajara, FrayAntonio Alcalde, bInstituto de Patologia Infecciosa
y Experimental, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, and
cDepartment of Experimental Medicine, School ofMedicine, Universidad Nacional Autonoma de Mexico,
Mexico City, Mexico
Key Words
neurosurgical ward and the adult internal m edicine ward,
Resistance patterns •Acinetobacter baumannii •
A ntim icrobial susceptibility
and these isolates were frequently obtained from secretions,
A persistent decrease in the susceptibility o f A. baumannii
isolates to m eropenem (92% in 1999 to 12% in 2011), imipenem and am ikacin has been observed' Conclusions: A. baumannii becam e an endem ic nosocom ial pathogen during
Background: Acinetobacter baumannii has evolved from an
opportunistic pathogen into a com m on and persistent nos
ocom ial bacterium capable o f causing severe infections d ur
ing endem ic and epidem ic periods' Methods: The study pe
riod extended from January 1999 to Decem ber 2011 and
involved patients hospitalized at the Hospital Civil de
Guadalajara, Fray An ton io Alcalde, Jalisco, M exico' From
each patient, a single isolate was obtained, and a total of
3,680 unique isolates were collected' Susceptibility tests
were perform ed according to the guidelines o f the Clinical
and Laboratory Standards Institute' Results: A. baumannii
has dissem inated throughout the Hospital Civil de Guadala
jara, Fray An ton io Alcalde, since 1999' A. baumannii isolates
obtained from patients treated in the adult intensive care
unit represent the majority o f the isolates that have been co l
lected' In addition, A. baumannii was isolated from the adult
KAR.GER.
E-M ail [email protected]
w ww .karger.com /che
© 2013 S. Karger AG, Basel
0009-3157/13/0591-0057$38.00/0
the study period at the Hospital Civil de Guadalajara, Fray
A n ton io Alcalde, and has exhibited a persistent decrease in
susceptibility to all categories o f antim icrobial agents over
the past 13 years'
C o p y rig h t © 2013 S' K arg er AG , Basel
Introduction
Acinetobacter baum annii is a nosocomial pathogen
found worldwide that is responsible for a diverse set of
serious infections that include bacteremia, ventilatorassociated pneum onia, postsurgical m eningitis and skin
and skin structure infections [1-3]. M oreover, A. baum annii has evolved from a nosocomial bacterium that
prim arily affects im m unocom prom ised patients in hos-
Rayo M orfin-O tero, In stitu to de Patologia Infecciosa y Experim ental
C entro U niversitario C iencias de la Salud
U niversidad de G uadalajara (U deG ), Calle H ospital 308, Col. El Retiro
G uadalajara 44280 (M exico)
E-M ail rayom orfin @ gm ail.com
Downloaded by:
148.202.95.250 - 3/11/2014 1 0:58:14 PM
Abstract
Immunol Res (2013) 56:299-303
DOI 10.1007/s12026-013-8400-4
E T IO P A T H O G E N E S IS O F A U T O IM M U N IT Y
Adverse events following immunization
with vaccines containing adjuvants
S. Cerpa-Cruz • P. Paredes-Casillas •
E. Landeros Navarro • A. G. Bernard-Medina •
G. Martinez-Bonilla • S. Gutierrez-Urena
S. Cerpa-Cruz
Published online: 11 April 2013
© Springer Science+Business Media New York 2013
Abstract
A traditional infectious disease vaccine is a preparation o f live attenuated, inactivated or k illed pathogen that
stim ulates im m unity. V accine im m unologic adjuvants are com pounds incorporated into vaccines to enhance im m unogenicity. A djuvants have recently been im plicated in the new syndrom e nam ed A SIA autoim m une/inflam m atory syndrom e
induced by adjuvants. T he objective describes the frequencies o f post-vaccination clinical syndrom e induced by adjuvants.
W e perform ed a cross-sectional study; adverse event follow ing im m unization was defined as any untow ard m edical
occurrence that follow s im m unization 54 days prior to the event. D ata on vaccinations and other risk factors w ere obtained
from daily epidem iologic surveillance. D escriptive statistics w ere done using m eans and standard deviation, and odds ratio
adjusted for potential confounding variables w as calculated w ith SPSS 17 softw are. F orty-three out o f 120 patients w ith
m oderate or severe m anifestations follow ing im m unization w ere hospitalized from 2008 to 2011. A ll patients fulfilled at
least 2 m ajor and 1 m inor criteria suggested by S hoenfeld and A g m o n -L ev in for A SIA diagnosis. T he m ost frequent
clinical findings w ere pyrexia 68 %, arthralgias 47 %, cutaneous disorders 33 %, m uscle w eakness 16 % and m yalgias
14 %. T hree patients had diagnosis o f G u illain -B arre syndrom e, one patien t had A dult-S till’s disease 3 days after v ac
cination. A total o f 76 % o f the events occurred in the first 3 days post-vaccination. T w o patients w ith previous auto
im m une disease show ed severe adverse reactions w ith the reactivation o f their illness. M inor local reactions w ere present in
49 % o f patients. V accines containing adjuvants m ay b e associated w ith an increased risk o f autoim m une/inflam m atory
adverse events follow ing im m unization.
Keywords
A djuvant • V accines • A utoim m unity • A lum inum • T hiom ersal • Syndrom e
Introduction
A djuvants have been used for decades to im prove the
im m une response to vaccine antigens. A djuvant is o rig i
nated from the L atin w ord ‘‘adjuvare’’ w hich m eans ‘‘h elp ’’
S. Cerpa-Cruz (& ) • A. G. Bernard-Medina •
G. Martinez-Bonilla • S. Gutiiirrez-Ureiia
Rheumatology and Immunology Department, Hospital Civil de
Guadalajara ‘‘Fray Antonio Alcalde’’, Hospital 278, SH, Colonia
El Retiro, 44280 Guadalajara, Jalisco, Mexico
P. Paredes-Casillas • E. Landeros Navarro
Internal Medicine and Epidemiology Department, Hospital Civil
de Guadalajara ‘‘Fray Antonio Alcalde’’, Guadalajara, Mexico
in E nglish to enhance the im m unologic responses w hen
given together w ith antigens. T he beginning o f adjuvant
was m ineral oil w hich enhanced the im m une response
w hen it was given w ith inactivated Salm onella typhim urium [1]. A lum inum salt w as used to precipitate diphtheria
toxoid and increased level o f antibody response was
dem onstrated w hen adm inistered w ith alum -precipitated
antigens. Since 1930, alum inum salt has been used as
diphtheria-tetanus-acellular pertussis (D TaP) vaccine
adjuvant. M any candidates w ere tested for adjuvant activity
b ut only alum inum salt is allow ed to use for hum an v ac
cines [2]. N ew adjuvant M F59, oil-in-w ater em ulsion type,
was developed for influenza vaccine for elderly (Fluad),
and series o f AS adjuvant are used for hepatitis B, p an
dem ic flu and hum an pap illo m a virus vaccines. Oil-
^ Springer
Graefes Arch Clin Exp Ophthalmol (2013) 251:2093-2097
DOI 10.1007/s00417-013-2321-8
RETINAL DISORDERS
Early retinopathy of prematurity findings identified
with fluorescein angiography
L. Consuelo Zepeda-Romero • Aldo A. Oregon-Miranda •
Dalia S. Lizarraga-Barron • Oscar Gutierrez-Camarena •
Alonso Meza-Anguiano • Jose Alfonso Gutierrez-Padilla
Received: 27 September 2012 /Revised: 27 February 2013 /Accepted: 12 March 2013 /Published online: 2 April 2013
© Springer-Verlag Berlin Heidelberg 2013
Abstract
Background Fluorescein angiography has been fundamental
for the understanding and description of vascular disorders
affecting the retina and choroid. The aim of this report is to
assess the early anatomic retinal changes visible with angiogra
phy, and their relation with the clinical findings of retinopathy of
prematurity.
Presentation at a conference This w ork was presented as a poster at
the ARVO 2010 meeting.
The authors have full control o f all primary data, and they agree to
allow Graefe’s Archive for Clinical and Experimental Ophthalmology
to review their data if requested.
L. C. Zepeda-Romero
Clinic o f Retinopathy o f Prematurity and Blindness prevention,
Hospital Civil de Guadalajara, Centro Universitario de Ciencias
de la Salud, Universidad de Guadalajara, Guadalajara, Mexico
A. A. Oregon-M iranda ■D. S. Lizarraga-Barron
Hospital Civil de Guadalajara,
Centro Universitario de Ciencias de la Salud, Universidad de
Guadalajara, Guadalajara, Mexico
O. Gutierrez-Camarena ■J. A. Gutierrez-Padilla
Unidad de Cuidados Intensivos Neonatales UCINEX, Hospital
Civil de Guadalajara, Centro Universitario de Ciencias de la Salud,
Universidad de Guadalajara, Guadalajara, Mexico
A. Meza-Anguiano
Hospital Civil de Guadalajara, Universidad Guadalajara LAMAR,
Guadalajara, Mexico
L. C. Zepeda-Romero ( * )
Clinic o f Retinopathy o f Prematurity and Blindness prevention,
Hospital Civil de Guadalajara Centro Universitario
de Ciencias de la Salud, Universidad de Guadalajara,
Calle Boulevard Puerta de Hierro 5150,
Zapopan, Jalisco, Mexico 45116
e-mail: drconsuelo@ yahoo.com
Methods Ten babies were included in the study, the initial
examination being at 2 weeks after birth. Two cycles of
tropicamide 0.8 % and phenylephrine 5 % eye drops were
instilled into both eyes 30 min before examination. A
RetCam II was used to obtain digital retinal images, after
instilling topical anesthesia (tetracain 0.5 %) and using a
contact gel. Fluorescein angiography was undertaken fol
lowing administration of an intravenous bolus of 0.1 ml/kg
saline fluorescein 10 % followed by a 3.0-ml isotonic saline
flush, with the assistance of the neonatologist; the right and
left eyes were imaged.
Results We observed that some of the vascular abnormali
ties described for threshold disease by Lepore were already
present at the second week of life, preceding the diagnosis of
threshold disease by 3-4 weeks in two cases. The main
findings in our cases were arterio-venous shunts, surrounded
by areas of capillary non-perfusion, rosary-bead-like hyper
fluorescence, tortuosity and leakage from distal arterioles,
none of which were detectable in the digital fundus pictures.
Conclusions Early ROP screening at the NICU that includes
FA is a safe procedure, and gives the examiner details of
vascular changes that are not detectable by indirect ophthal
moscopy, which could predict the progression to threshold
disease, and provide an alert about the need of therapeutic
interventions.
Keywords ROP RetCam • Fluorescein angiography • ROP
screening . Tropicamide
Introduction
Fluorescein angiography (FA) has been fundamental to the
understanding and description o f vascular disorders
Springer
Acta Neurol Belg (2013) 113:19-23
DOI 10.1007/s13760-012-0110-5
O R IG IN A L A R T IC L E
Atypical forms of the osmotic demyelination syndrome
Jose L. Ruiz-Sandoval • Erwin Chiquete • Lucia E. Alvarez-Palazuelos •
Miguel A. Andrade-Ramos • Luis R. Rodriguez-Rubio
Received: 27 March 2012/Accepted: 22 June 2012/Published online: 20 July 2012
© Belgian Neurological Society 2012
Abstract
O sm otic dem yelination syndrom e (ODS) is the
dam age over the central nervous system caused by several
electrolytes, m etabolic and toxic disorders. W e aim ed to
describe cases o f unusual form s o f O D S. In a 9 -year period,
25 consecutive patients w ith ODS (15 m en; m ean age
42 years) w ere registered in our referral institution, am ong
them , four (16 %) w ith atypical neuroim aging findings
w ere abstracted for this com m unication. N one o f them
presented cardiorespiratory arrest, head traum a, seizures,
neurom yelitis optica spectrum or contact w ith toxic
chem icals. C ase 1 was a 33-year-old alcoholic m an w ithout
hypertension or electrolyte im balance, w ho presented a
classic central pontine m yelinolysis (CPM ) and a h em o r
rhage w ithin the pons. C ase 2 was a 34-year-old alcoholic
m an w ith hypoglycem ia and hyponatrem ia w ho presented
C PM and diffuse bihem ispheric extrapontine m yelinolysis
(EPM ) after correction o f serum sodium . C ase 3 was a
52-year-old w om an w ith m ild hypokalem ia and h y p o n a
trem ia (inadequately corrected), w ho presented a p ed u n
cular and cerebellar EPM . C ase 4 was a 67-year-old
w om an w ho had a suicidal attem pt w ith antidepressants
and carbam azepine w ithout im paired consciousness, w ho
com plicated w ith m ild hyponatrem ia associated w ith a
classical C PM and a spinal cord EPM . C ase 2 died and the
rest rem ained w ith variable neurological im pairm ents at
last follow -up visit. W ith m odern neuroim aging, the
so-called atypical form s o f ODS m ay not be as rare as
J. L. Ruiz-Sandoval (& ) • E. Chiquete •
L. E. Alvarez-Palazuelos • M. A. Andrade-Ramos •
L. R. Rodriguez-Rubio
Servicio de Neurologia y Neurocirugia, Hospital Civil de
Guadalajara ‘‘Fray Antonio Alcalde’’, Hospital 278, Guadalajara,
Jalisco 44280, Mexico
p reviously thought; how ever, they could have a m ore
adverse outcom e than the classical ODS.
Keywords
C entral pontine m yelinolysis • E xtrapontine
m yelinolysis • N euroim aging • O sm otic dem yelination •
O sm otic m yelinolysis
Introduction
O sm otic dem yelination syndrom e (ODS) is the term that
b etter describes the dam age that over the central nervous
system cause m ultiple electrolytes, m etabolic and toxic
disorders. Since the original description in 1959 b y A dam s
et al. [1], and later in 1979 by W right et al. [2], central
p ontine (CPM ) and extrapontine m yelinolysis (EPM ),
respectively, have been reported as the com m on form s o f
ODS. R apid correction o f hyponatrem ia w as the first rec
ognized risk factor, b u t it is currently know n that ODS can
occur even w ith an ‘‘adequate’’ correction o f hyponatrem ia
[3] and in the absence o f serum sodium im balances [4 , 5].
H istopathologically, C PM is an axonal-sparing n o n
inflam m atory degeneration o f oligodendrocytes localized
in the basis pontis [5 ]. T he lesions are typically sym m et
rical and can spread to other anatom ical areas such as
cerebellum and supratentorial structures. This spread rep
resents the m ain concept o f E PM [4 , 5].
ODS can b e suspected on CT, b ut M R I is the technique
o f choice that suggests a prem ortem diagnosis o f m yelinolysis; lesions w ith hypointense signals are seen on T1
and they are hyperintense on T 2-w eighted M R I. Since
ODS is n ot an inflam m atory process, the lesions are classi
cally non-enhancing after gadolinium adm inistration [4 , 6].
These neuroim aging characteristics correspond pretty w ell
w ith those observed in autopsy investigations [4 ]. Thus,
^ Springer
World Journal of
Gastroentero logy
O n lin e S u b m issio n s: h tt p : / /w w w .w j g n e t .c o m / e s p s /
b p g o fic e @ w jg n e t.c o m
do i:1 0 .3 7 4 8 /w jg .v19.i44.7972
W orld J Gastroenterol 2013 N o v e m b e r 28; 19(44): 7972-7982
ISSN 1007-9327 (p rin t) ISSN 2219-2840 (onlin e)
© 2013 B aishideng P ublishing G roup Co., Lim ited. All rig h ts reserved.
R E V IE W
Alcoholism and liver disease in Mexico: Genetic and
environmental factors
Sonia Roman, Eloy Alfonso Zepeda-Carrillo, Laura Eugenia Moreno-Luna, Arturo Panduro
Sonia Roman, Eloy Alfonso Zepeda-Carrillo, Laura Eugenia
Moreno-Luna, Arturo Panduro, Department of Molecular Bio
logy in Medicine, Civil Hospital of Guadalajara, “Fray Antonio
Alcalde” and Health Sciences Center, University of Guadalajara,
Guadalajara, Jalisco 44280, Mexico
Eloy Alfonso Zepeda-Carrillo, Universidad Autonoma de Nayarit and Hospital Civil Tepic “Antonio Gonzalez Guevara”, Tepic, Nayarit 63000, Mexico
Author contributions: Roman S and Zepeda-Carrillo EA con
tributed equally to drafting the manuscript, acquiring the data and
critically revising the article; Moreno-Luna LE contributed to ac
quiring and analyzing the data; Panduro A conceived and drafted
the manuscript, analyzed the data and critically revised the manu
script; all of the authors revised and approved the final version.
Supported by The National Council of Science and Technology,
(Conacyt-Fondo Sectorial, Mexico), Grant No. Salud-2010-1-139085
awarded to Roman S
Correspondence to: Arturo Panduro, MD, PhD, Department
of Molecular Biology in Medicine, Civil Hospital of Guadalajara,
“Fray Antonio Alcalde” and Health Sciences Center, University
of Guadalajara, Hospital 278, Col. El Retiro, Guadalajara, Jalisco
44280, Mexico. [email protected]
Telephone: +52-33-36147743 Fax: +52-33-36147743
Received: June 29, 2013
Revised: August 15, 2013
Accepted: October 17, 2013
Published online: November 28, 2013
African, with a heterogeneous distribution within the
country. Thus, genes related to alcohol addiction, such
as dopamine receptor D2 in the brain, or liver alcoholmetabolizing enzymes, such as alcohol dehydrogenase
class I polypeptide B, cytochrome P450 2E1 and alde
hyde dehydrogenase class 2, may vary from one indi
vidual to another. Furthermore, they may be inherited
as risk or non-risk haplogroups that confer susceptibil
ity or resistance either to alcohol addiction or abusive
alcohol consumption and possibly liver disease. Thus, in
this era of genomics, personalized medicine will benefit
patients if it is directed according to individual or pop
ulation-based data. Additional association studies will
be required to establish novel strategies for the preven
tion, care and treatment of liver disease in Mexico and
worldwide.
© 2013 Baishideng Publishing Group Co., Limited. All rights
reserved.
Key words: Alcohol; Genes; Alcoholism; Alcohol depen
dence; Alcohol addiction; Alcohol abuse; Alcoholic liver
cirrhosis; Anthropology
Core tip: Alcoholism and liver disease are leading global
health problems. However, the severity and outcome
of liver disease appear to vary between individuals and
populations. In the present review, we analyze the gen
eral scope of alcohol consumption and its relationship
with the pattern of drinking score in different countries.
We focus on the development of alcoholism in Mexico,
which has a strong historical background, and em pha
size the need to understand the genetic and environ
mental factors affecting each population or geographi
cal region of the world.
A b stra c t
Alcoholism and cirrhosis, which are two of the most
serious health problems worldwide, have a broad spec
trum of clinical outcomes. Both diseases are influenced
by genetic susceptibility and cultural traits that differ
globally but are specific for each population. In contrast
to other regions around the world, Mexicans present
the highest drinking score and a high mortality rate for
alcoholic liver disease with an interm ediate category
level of per capita alcohol consumption. Mexico has a
unique history of alcohol consum ption that is linked
to profound anthropological and social aspects. The
Mexican population has an adm ixture genom e inher
ited from different races, Caucasian, Am erindian and
Roman S, Zepeda-Carrillo EA, Moreno-Luna LE, Panduro A. Al
coholism and liver disease in Mexico: Genetic and environmental
factors. World J Gastroenterol 2013; 19(44): 7972-7982 Avail
able from: URL: http://www.wjgnet.com/1007-9327/full/v19/
i f
js . V i L ,* '
w j g | w w w .w jg n e t.c o m
7972
N o v e m b e r 28, 2013 | V o lu m e 19 | Issu e 44 |
DOI: 10.1590/1516-3180.2013.1314494
C A S E REPO R T
Bilateral tibial hemimelia type 1 (1a and 1b)
with T9 and T10 hemivertebrae: a novel association
Bilateral tibial hem im elia tipo 1 (1a e 1b) com
hem ivertebras T9 e T10: um a nova associagao
Victor M ichael Salinas-Torres1, Leticia Oralia Barajas-Barajas11, Nicolas Perez-Garcia'", Guillerm o Perez-GarciaIV
University Center o f Health Sciences, University o f Guadalajara, and "Fray Antonio Alcalde" Civil Hospital o f Guadalajara, Guadalajara,
Jalisco, Mexico
MD. Specialty Student of Medical Genetics,
University Health Sciences Center, University of
ABSTRACT
CONTEXT: Congenital absence of the tibia is a rare anomaly with an incidence o f one per 1,000,000 live
Guadalajara, and "Fray Antonio Alcalde" Civil Hospital
births. It is mostly sporadic and can be identified as an isolated disorder or as part of malformation syndromes.
of Guadalajara, Guadalajara, Jalisco, Mexico.
CASE REPORT: A male child, born to unaffected and non-consanguineous parents, presented with short
"PhD. Professor of Clinical Genetics, University
ening o f the legs and adduction of both feet. Physical exam ination at six months of age showed head
Health Sciences Center, University of
circum ference o f 44.5 cm (75th percentile), length 60 cm (< 3 rd percentile), weight 7,700 g (50th percen
Guadalajara, and Head o f D epartm ent of Special
tile), shortening o f the left thigh and both legs with varus foot. There were no craniofacial dysm orphism s
Care Clinic, G enetics Service, Integral Family
or chest, abdom inal, genital or upper-extremity anomalies. Psychomotor developm ent was normal. His
D evelopm ent, Jalisco, Mexico.
"MD. Professor of Radiology, University Health
Sciences Center, University of Guadalajara,
and Head o f D epartm ent of Radiology, "Fray
Antonio Alcalde" Civil Hospital o f Guadalajara,
Guadalajara, Jalisco, Mexico.
IVPhD. Professor o f Biochem istry, University
Health Sciences Center, University of
workup, including renal and cranial ultrasonography, brainstem auditory evoked potential, and ophthalm ological and cardiological exam inations, was normal. X-rays showed bilateral absence o f the tibia
with intact fibulae, distally hypoplastic left femur, and normal right femur. In addition, spinal radiographs
showed hem ivertebrae at T9 and T10.
CONCLUSION: This novel association expands the spectrum o f tibial hemimelia. Moreover, this observa
tion highlights the usefulness o f this inexpensive diagnostic method (X-rays) for characterizing the great
clinical and radiological variability of tibial hemimelia.
Guadalajara, and Head D epartm ent of
Genetics, "Fray Antonio Alcalde" Civil Hospital of
Guadalajara, Guadalajara, Jalisco, Mexico.
RESUMO
CONTEXTO: Ausencia congenita da tibia e uma anomalia rara, com incidencia em 1 por 1.000.000 de
nascidos vivos, e principalm ente esporadica e pode ser identificada com o um disturbio isolado ou como
K E Y WORDS:
Femur.
Ectromelia.
Tibia.
Thoracic vertebrae.
parte de sindromes de malformagoes.
RELATO DO CASO: Crianga do sexo masculino, nascida de pais nao afetados e nao consanguineos, apresentou-se com encurtam ento das pernas e adugao de ambos os pes. O exam e fisico realizado com seis
meses de idade mostrou perimetro cefalico 44,5 cm (percentil 75), com prim ento de 60 cm (percentil < 3),
X-rays.
peso 7.700 g (percentil 50), encurtam ento da coxa esquerda e as duas pernas com o pe varo bilateralhavia.
PALAVRAS-CHAVE:
riores. O desenvolvim ento psicomotor foi normal. Os exam es, incluindo ultrassonografia renal e da cabega,
Femur.
potenciais auditivos evocados de tronco cerebral e exames oftalmologicos e cardiologicos, estavam nor-
Nao houve dism orfism os craniofaciais, nem torax, abdom en, genitais e anomalias das extrem idades supe
Ectromelia.
mais. Raios-X revelou ausencia bilateral da tibia com fibula intacta, hipoplasia distal do femur esquerdo e
Tibia.
femur direito normal. Alem disso, as radiografias de coluna mostraram hemivertebras em T9 e T10.
Vertebras toracicas.
CONCLUSAO: Esta associagao nova expande o espectro de hemimelia tibial. Alem disso, esta observagao
Raios X.
destaca a utilidade de tal metodo diagnostico barato (raios-X), caracterizando a grande variabilidade clinica e radiologica de hemimelia tibial.
Sao P au lo M e d J. 2013; 131(4):275-8
275
www.nephropathol.com
D O I: 10.5812/nephropathol.7448
J Nephropathology. 2012; 1(2): 69-76
Journal of Nephropathology
T h e Global role of kidney transplantation
G u illerm o G arcia G arcia1’*, Paul H a rd e n 2, Jerem y C h ap m an 3
For the World Kidney Day Steering Com m ittee 2012 4’**
1 N e p h ro lo g y Service, H o sp ita l Civil de G uadalajara, U niversity o f G uadalajara H e a lth Sciences C e n te r H o sp ita l 278, G uadalajara,
Jal. 44280, M exico.
2 O x fo rd K idney U n it a n d O x fo rd T ran sp la n t C entre, C hurchill H o sp ita l, O x fo rd , U n ite d K ingdom .
3 C en tre fo r T ran sp la n t a n d R enal R esearch, W est m e a d M illennium In stitu te , Sydney U niversity, W est m e a d H o sp ita l, Sydney, NSW,
2145, A ustralia.
4 W orld K idney D a y (W K D ) is a jo in t initiative o f th e In te rn a tio n a l Society o f N e p h ro lo g y a n d the In te rn a tio n a l F e d e ratio n s o f
K idney F o u ndations.
**WKD Steering C om m ittee m em bers: A b ra h a m G , B eerkens P, C h a p m a n JR , C o u se r W ,E rk T, Feehally J, G arcia G G , Li PK T ,
Riella M , S egantini L, Shay P
Article type:
Review
Article history:
Received: 22 M ar 2012
A ccepted: 30 M ar 2012
P ublished online: 1 July 2012
D O I: 1 0 .5 8 1 2 /n ep h ro p ath o l.7 4 4 8
Kidney transplantation
W orld kidney day
E nd-stage renal disease
ABSTRACT___________________________________________________
W orld K idney Day o n M arch 8th 2012 provides a chance to reflect on the success
o f kidney transplantation as a therapy for end stage kidney disease th at surpasses
dialysis treatm ents b o th for the quality and quantity o f life th at it provides and for
its cost effectiveness. A nything th at is b o th cheaper and better, b u t is n o t actually
the dom inant therapy, m ust have o ther drawbacks th at prevent replacem ent o f
all dialysis treatm ent by transplantation. T he barriers to universal transplanta
tion as the therapy for end stage kidney disease include the econom ic limitations
which, in som e countries place transplantation, appropriately, at a lower p rio r
ity than public health fundam entals such as clean water, sanitation and vaccina
tion. E ven in high incom e countries the technical challenges o f surgery and the
consequences o f im m unosuppression restrict the num ber o f suitable recipients,
b u t the m ajor finite restrictions o n kidney transplantation rates are the shortage
o f donated organs and the lim ited medical, surgical and nursing w orkforces
w ith the required expertise. T hese problem s have solutions w hich involve the full
range o f societal, professional, governm ental and political environm ents. W orld
Kidney D ay is a call to deliver transplantation therapy to the one million people
a year w ho have a right to benefit.
Implication fo r health policy/practice/research/medical education:
W orld Kidney D ay on M arch 8th 2012 provides a chance to reflect on the success o f kidney transplantation
as a therapy for end stage kidney disease th at surpasses dialysis treatm ents b o th for the quality and quantity o f
life th at it provides and for its cost effectiveness.
Please cite thispaper as: Garcia Garcia G, H arden P, Jeremy Chapm an J. T he Global Role o f Kidney Transplantation.
J N ephropathology. 2012; 1(2): 69-76. D O I: 10.5812/nephropathol.7448
*Corresponding author: World Kidney Day, International Society o f Nephrology, Rue des Fabriques 1, 1000 Brussels, Belgium.
Telephone: 0015672489703, Fax: 0019082727101, Email: sm artin@ theisn.org
Review
ARTICLE INFO
World Journal of
Gastroentero logy
b p g o fic e @ w jg n e t.c o m
do i:1 0 .3 7 4 8 /w jg .v19.i44.7972
W orld J Gastroenterol 2013 N o v e m b e r 28; 19(44): 7972-7982
© 2013 B aishideng P ublishing G roup Co., Lim ited. All rig h ts reserved.
R E V IE W
Alcoholism and liver disease in Mexico: Genetic and
environmental factors
Sonia Roman, Eloy Alfonso Zepeda-Carrillo, Laura Eugenia Moreno-Luna, Arturo Panduro
Sonia Roman, Eloy Alfonso Zepeda-Carrillo, Laura Eugenia
Moreno-Luna, Arturo Panduro, Department of Molecular Bio
logy in Medicine, Civil Hospital of Guadalajara, “Fray Antonio
Alcalde” and Health Sciences Center, University of Guadalajara,
Guadalajara, Jalisco 44280, Mexico
Eloy Alfonso Zepeda-Carrillo, Universidad Autonoma de Nayarit and Hospital Civil Tepic “Antonio Gonzalez Guevara”, Tepic, Nayarit 63000, Mexico
Author contributions: Roman S and Zepeda-Carrillo EA con
tributed equally to drafting the manuscript, acquiring the data and
critically revising the article; Moreno-Luna LE contributed to ac
quiring and analyzing the data; Panduro A conceived and drafted
the manuscript, analyzed the data and critically revised the manu
script; all of the authors revised and approved the final version.
Supported by The National Council of Science and Technology,
(Conacyt-Fondo Sectorial, Mexico), Grant No. Salud-2010-1-139085
awarded to Roman S
“Fray Antonio Alcalde” and Health Sciences Center, University
of Guadalajara, Hospital 278, Col. El Retiro, Guadalajara, Jalisco
44280, Mexico. [email protected]
Telephone: +52-33-36147743 Fax: +52-33-36147743
Received: June 29, 2013
Revised: August 15, 2013
Accepted: October 17, 2013
Published online: November 28, 2013
African, with a heterogeneous distribution within the
country. Thus, genes related to alcohol addiction, such
as dopamine receptor D2 in the brain, or liver alcoholmetabolizing enzymes, such as alcohol dehydrogenase
class I polypeptide B, cytochrome P450 2E1 and alde
hyde dehydrogenase class 2, may vary from one indi
vidual to another. Furthermore, they may be inherited
as risk or non-risk haplogroups that confer susceptibil
ity or resistance either to alcohol addiction or abusive
alcohol consumption and possibly liver disease. Thus, in
this era of genomics, personalized medicine will benefit
patients if it is directed according to individual or pop
ulation-based data. Additional association studies will
be required to establish novel strategies for the preven
tion, care and treatment of liver disease in Mexico and
worldwide.
© 2013 Baishideng Publishing Group Co., Limited. All rights
reserved.
Key words: Alcohol; Genes; Alcoholism; Alcohol depen
dence; Alcohol addiction; Alcohol abuse; Alcoholic liver
cirrhosis; Anthropology
Core tip: Alcoholism and liver disease are leading global
health problems. However, the severity and outcome
of liver disease appear to vary between individuals and
populations. In the present review, we analyze the gen
eral scope of alcohol consumption and its relationship
with the pattern of drinking score in different countries.
We focus on the development of alcoholism in Mexico,
which has a strong historical background, and em pha
size the need to understand the genetic and environ
mental factors affecting each population or geographi
cal region of the world.
A b stra c t
Alcoholism and cirrhosis, which are two of the most
serious health problems worldwide, have a broad spec
trum of clinical outcomes. Both diseases are influenced
by genetic susceptibility and cultural traits that differ
globally but are specific for each population. In contrast
to other regions around the world, Mexicans present
the highest drinking score and a high mortality rate for
alcoholic liver disease with an interm ediate category
level of per capita alcohol consumption. Mexico has a
unique history of alcohol consum ption that is linked
to profound anthropological and social aspects. The
Mexican population has an adm ixture genom e inher
ited from different races, Caucasian, Am erindian and
Roman S, Zepeda-Carrillo EA, Moreno-Luna LE, Panduro A. Al
coholism and liver disease in Mexico: Genetic and environmental
factors. World J Gastroenterol 2013; 19(44): 7972-7982 Avail
able from: URL: http://www.wjgnet.com/1007-9327/full/v19/
i f
js . V i L ,* '
w j g | w w w .w jg n e t.c o m
7972
N o v e m b e r 28, 2013 | V o lu m e 19 | Issu e 44 |
World Journal of
Gastroentero logy
w jg @ w jg n et.co m
do i:1 0 .3 7 4 8 /w jg .v19.i33.5446
W orld J Gastroenterol 2013 S e p te m b e r 7; 19(33): 5446-5453
© 2013 Baishideng. All rig h ts reserved.
M IN IR E V IE W S
HBV endemicity in Mexico is associated with HBV genotypes
H and G
Sonia Roman, Arturo Panduro
Sonia Roman, Arturo Panduro, Department of Molecular Biol
ogy in Medicine, Civil Hospital of Guadalajara, “Fray Antonio
Alcalde”, and Health Sciences Center, University of Guadalajara,
Guadalajara 44280, Jalisco, Mexico
Author contributions: Roman S and Panduro A contributed
equally to this paper.
Supported by N ational Council o f Science and Technol
ogy (CONACYT-FONDO SECTORIAL, Mexico), Grant No.
Salud-2010-1-139085, to Roman S; and Jalisco State Coun
cil o f Science and Technology (COECYTJAL-Universidad
de G uadalajara, G uadalajara, Jalisco, M exico), Grant No.
2009-1-06-2009-431, to Panduro A
“Fray Antonio Alcalde”, and Health Sciences Center, University
of Guadalajara, Guadalajara 44280, Jalisco,
Mexico. [email protected]
Telephone: +52-33-36147743 Fax: +52-33-36147743
Received: May 7, 2013
Revised: June 15, 2013
Accepted: July 18, 2013
Published online: September 7, 2013
may differ significantly from the standard guidelines
established w orldw ide. The high prevalence of HBV
g en o typ e G in the A m ericas, e sp e cia lly am ong the
Mexican population, raises new questions regarding its
geographic origin that will require further investigation.
© 2013 Baishideng. All rights reserved.
Key words: Hepatitis B virus genotypes; Hepatitis B v i
rus genotype H; Hepatitis B virus genotype G; Molecu
lar epidemiology; Mexico; Antiviral therapy; Severity of
liver disease; Clinical outcome
Core tip: Molecular, clinical, geographical and ethnicity
evidence are characteristics that define any h epati
tis B virus (HBV) genotype. All of these features are
there for HBV genotype H, which is most predominant
in Mexico, but not in Central America. Likewise, HBV
genotype G has unique molecular characteristics and
a similar route of transmission among those infected
w ith th is vira l g en o typ e, but it lacks a g eo g rap h ic
origin. To date, despite the high prevalence of HBV
genotype G cases from the Americas, especially among
Mexicans, the limited number of complete sequences
hinders further investigation to establish a hypothesis
of an Amerindian origin.
A b stra c t
Hepatitis B virus (HBV) genotypes have distinct genetic
and geographic diversity and may be associated with
specific clinical characteristics, progression, severity
o f d isease and a n tiviral response. H erein, w e pro
vide an updated overview of the endem icity of HBV
genotypes H and G in Mexico. HBV genotype H is pre
dom inant among the Mexican population, but not in
Central America. Its geographic distribution is related
to a typical endemicity among the Mexicans which is
characterized by a low hepatitis B surface antigen seroprevalence, apparently due to a rapid resolution of
the infection, low viral loads and a high prevalence of
occult B infection. During chronic infections, genotype
H is detected in m ixtures with other HBV genotypes
and asso ciated w ith o th e r co -m o rb id itie s, such as
obesity, alcoholism and co-infection with hepatitis C
virus or human immunodeficiency virus. Hepatocellular
carcinom a prevalence is low. Thus, antiviral therapy
Roman S, Panduro A. HBV endemicity in Mexico is associated
with HBV genotypes H and G. World J Gastroenterol 2013;
19(33): 5446-5453 Available from: URL: http://www.wjgnet.
com /1007-9327/full/v19/i33/5446.htm DOI: http://dx.doi.
org/10.3748/wjg.v19.i33.5446
INTRODUCTION
Definition of hepatitis B virus genotypes and their
association with human liver disease
Hepatitis B virus (HBV) and humans share a close re-
K
jg .V lL ,* '
W JG | w w w .w jg n e t.c o m
5446
S e p te m b e r 7, 2013 | V o lu m e 19 | Issu e 33 |
+M odel
ANPEDI-1499;
ARTICLE IN PRESS
No.ofPages8
An Pediatr (Bare). 2014;xxx(xx):xxx-xxx
anales
pediatrfa
ww w .e ls e v ie r.e s /a n p e d ia tr
ORIGINAL
Variantes fenotipicas menores en pacientes con
leucemia linfoblastica aguda del occidente de Mexico
S.A. Estrada-Padillaa, J.R . Corona-Riveraa b *, F. Sanchez-Zubietacd,
L. Bobadilla-Moralesc,d y A. Corona-Riverac,d
a Instituto
de Genetica Humana «Dr. Enrique Corona Rivera», Departamento de Biologia Molecular y Genomica, Centro
Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
b Servicio de Genetica, Division de Pediatria, Hospital Civil de Guadalajara «Dr. Juan I. Menchaca», Guadalajara, Jalisco, Mexico
e Unidad de Citogenetica, Servicio de Hemato-Oncologia, Division de Pediatria, Hospital Civil de Guadalajara «Dr. Juan I.
Menchaca», Guadalajara, Jalisco, Mexico
d Instituto de Investigacion en Cancer Infantil y de la Adolescencia, Departamento de Reproduccion Humana, Crecimiento y
Desarrollo Infantil, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
Recibido el 18 de mayo de 2013; aceptado el 26 de noviembre de 2013
PALABRAS CLAVE
Resumen
Anormalidades
fenotipicas;
Variantes comunes;
Anomali'as menores;
Malformaciones;
Leucemia
linfoblastica aguda;
Cancer infantil;
Manchas cafe con
leche
Introduccion: La leucemia linfoblastica aguda (LLA) se ha asociado a un exceso de variantes
fenotipicas menores (VFM), que incluyen las variantes comunes y las anomali'as menores, indicadoras de una fenogenesis alterada. El objetivo fue determinar la asociacion entre VFM y
LLA.
Pacientes y metodos: Estudio de casos y controles basado en hospital de 120 ninos con LLA y
120 ninos sanos como grupo control, emparejados por edad y sexo, atendidos en el Hospital Civil
de Guadalajara Dr. Juan I. Menchaca (Mexico). En ambos grupos, se realizaron 28 mediciones
antropometricas y la busqueda sistematica de un listado de 405 VFM mediante un examen fisico
minucioso. Se estimaron las odds ratio ajustadas (ORa) con sus variables intervinientes por
regresion logistica. El intervalo de confianza fue del 95% (IC del 95%).
Resultados: Los signos antropometricos asociados con LLA fueron: segmento superior largo
(ORa = 2,19; IC del 95%, 1,01-4,76), mandibula ancha (ORa = 2,62; IC del 95%, 1,29-5,30), pabellones estrechos (ORa = 6,22, IC95%: 2,60-14,85) y teletelia (ORa =2,53; IC del 95%m 1,07-5,98).
Las VFM hipoplasia mesofacial, frente ancha, nariz pequena, columnela corta, pabellones estre
chos, teletelia, linea Sidney, pie griego y manchas cafe con leche (MCL) tuvieron una frecuencia
de 3 a 17 veces mayor en los ninos con LLA. Por numero, encontramos asociacion a partir de >
4 VFM (ORa = 2,14; IC del 95%o, 1,25-3,66; p =0,004).
* Autor para correspondencia.
Correoelectronico: [email protected] (J.R . Corona-Rivera).
1695-4033/$ - see front matter © 2013 Asociacion Espanola de Pediatria. Publicado por Elsevier Espana, S.L. Todos los derechos reservados.
http://dx.doi.org/10.1016Zj.anpedi.2013.11.029
Como citar este articulo: Estrada-Padilla SA, et al. Variantes fenotipicas menores en pacientes con leucemia linfoblastica
aguda del occidente de Mexico. An Pediatr (Barc). 2014. http://dx.doi.org/10.1016/j.anpedi.2013.11.029

publicaciones internacionales indice internacional 2009-2013

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