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Am J Med Genet A ; 173(8): 2251-2256, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28544699


Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis. A further child with LDS had prominence of the left renal pelvis on postnatal renal ultrasound. We also describe a second family in whom the proband and his affected son had congenital renal anomalies; left ectopic kidney, right duplex kidney, and bilateral duplex collecting systems with partial duplex kidney with mild degree of malrotation, respectively. Foxc2 is expressed in the developing kidney and therefore congenital renal anomalies may well be associated, potentially as a low penetrance feature. We propose that all individuals diagnosed with LDS should have a baseline renal ultrasound scan at diagnosis. It would also be important to consider the possibility of renal anomalies during prenatal ultrasound of at risk pregnancies, and that the presence of hydronephrosis may be an indication that the baby is affected with LDS.

Anormalidades Congênitas/genética , Pestanas/anormalidades , Fatores de Transcrição Forkhead/genética , Nefropatias/congênito , Rim/anormalidades , Linfedema/genética , Adulto , Cromossomos Humanos Par 16 , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/fisiopatologia , Pestanas/fisiopatologia , Feminino , Mutação da Fase de Leitura , Humanos , Lactente , Recém-Nascido , Rim/fisiopatologia , Nefropatias/complicações , Nefropatias/diagnóstico , Nefropatias/genética , Nefropatias/fisiopatologia , Linfedema/complicações , Linfedema/diagnóstico , Linfedema/fisiopatologia , Masculino , Pessoa de Meia-Idade , Linhagem
Cochrane Database Syst Rev ; (6): CD007496, 2011 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-21678366


BACKGROUND: Previous systematic reviews found inconsistent effects of male circumcision on HIV acquisition in men who have sex with men (MSM). However, a number of new studies have become available in the three years since the last systematic review. OBJECTIVES: To assess the effects of male circumcision for preventing HIV acquisition by men through sex with men. SEARCH STRATEGY: In June 2010 we electronically searched the Cochrane Central Register of Controlled Trials, PubMed, EMBASE, AIDS Education Global Information System,, and WHO International Clinical Trials Registry Platform; hand-searched reference lists of relevant articles; and contacted relevant organisations and experts. We updated the search in March 2011. SELECTION CRITERIA: We looked for randomised controlled trials (RCTs) and observational studies that assessed the effects of male circumcision on HIV acquisition in MSM. DATA COLLECTION AND ANALYSIS: Two authors independently assessed study eligibility and methodological quality, and extracted data. We expressed study results as odds ratios (OR) with 95% confidence intervals (CI), and conducted random-effects meta-analysis. MAIN RESULTS: We found no completed RCT and included 21 observational studies with 71,693 participants. The only eligible RCT is currently ongoing among MSM in China. The pooled effect estimate for HIV acquisition was not statistically significant (20 studies; 65,784 participants; OR 0.86, 95% CI 0.70 to 1.06) and showed significant heterogeneity (I²=53%). In a subgroup analysis, the results were statistically significant in studies of men reporting an insertive role (7 studies, 3465 participants; OR 0.27, 95% CI 0.17 to 0.44; I²=0%) but not in studies of men reporting a receptive role (3 studies, 1792 participants; OR 1.20, 95% CI 0.63 to 2.29; I² = 0%). There was no significant association between male circumcision and syphilis (8 studies; 34,999 participants: OR 0.96, 95% CI 0.82 to 1.13; I² = 0%), herpes simplex virus 1 (2 studies, 2740 participants; OR 0.90, 95% CI 0.53 to 1.52; I²=0%), or herpes simplex virus 2 (5 studies;10,285 participants; OR 0.86, 95% CI 0.62 to 1.21; I²=0%). The overall GRADE quality of evidence was low. None of the included studies assessed adverse effects associated with male circumcision. AUTHORS' CONCLUSIONS: Current evidence suggests that male circumcision may be protective among MSM who practice primarily insertive anal sex, but the role of male circumcision overall in the prevention of HIV and other sexually transmitted infections among MSM remains to be determined. Therefore, there is not enough evidence to recommend male circumcision for HIV prevention among MSM at present. Further research should be of high quality and further explore interaction with the predominant sexual role.

Circuncisão Masculina , Infecções por HIV/prevenção & controle , Homossexualidade Masculina , Infecções por HIV/transmissão , Herpes Simples/prevenção & controle , Herpes Simples/transmissão , Herpesvirus Humano 1 , Herpesvirus Humano 2 , Humanos , Masculino , Sífilis/prevenção & controle , Sífilis/transmissão