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1.
Obstet Gynecol ; 109(3): 750-2, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17329529

RESUMO

In 2004, the Department of Obstetrics and Gynecology at the University of Michigan decided to stop offering routine circumcision for specialty and disciplinary, logistic, and educational reasons. The Pediatric Hospitalist Service assumed responsibility for the procedures and the educational process with resultant patient and staff satisfaction, educational, logistical and economic benefits.


Assuntos
Circuncisão Masculina , Médicos Hospitalares/organização & administração , Unidade Hospitalar de Ginecologia e Obstetrícia/organização & administração , Pediatria/organização & administração , Competência Clínica , Hospitais Universitários , Humanos , Recém-Nascido , Masculino , Michigan , Política Organizacional , Desenvolvimento de Programas
2.
Am J Kidney Dis ; 41(1): E3, 2003 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-12500216

RESUMO

A 12-year-old boy presented with severe hypertension, congenital microcephaly, severe hearing loss, developmental delay, cryptorchidism, and bilateral pheochromocytomas, without the phenotypic features of multiple endocrine neoplasia type II syndromes (MEN-2). Sequence analysis of the polymerase chain reaction (PCR)-amplified gnomic DNA identified a missense mutation at nucleotide 451 of the von Hippel-Lindau (VHL) gene (A451G) that changes a codon for serine (AGT) to one for glycine (GGT) at amino acid position 80 (S80G). The sequence DNA analysis of the parents did not show a mutation in the VHL gene that was previously identified in their affected son. The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature. Knowledge that VHL mutation plays a critical role in sporadic pheochromocytoma should aid in the future diagnosis and treatment of this tumor. Genetic testing in known pheochromocytoma families is indicated to identify genetically abnormal subjects that carry the MEN-2, VHL, and glomus tumor gene mutations.


Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Mutação em Linhagem Germinativa/genética , Feocromocitoma/genética , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Substituição de Aminoácidos/genética , Criança , Criptorquidismo/genética , Deficiências do Desenvolvimento/genética , Genes Supressores de Tumor , Glicina/genética , Perda Auditiva Bilateral/genética , Humanos , Ligases/genética , Masculino , Microcefalia/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Mutação de Sentido Incorreto/genética , Serina/genética , Síndrome , Proteína Supressora de Tumor Von Hippel-Lindau , Doença de von Hippel-Lindau/genética
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