6 resultados para White Syndrome

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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Pós-graduação em Bases Gerais da Cirurgia - FMB

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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A origem anômala da artéria coronária esquerda a partir do tronco pulmonar, conhecida como síndrome de Bland-White-Garland (BWG), é uma doença rara, que, habitualmente, leva à morte antes do primeiro ano de vida. Os autores relatam o caso de uma criança branca, com 2 anos e 6 meses de idade, portadora da síndrome de BWG, e revisam a apresentação clínica, a fisiopatologia, o diagnóstico e o tratamento desses pacientes.

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It has been hypothesized that the AR (androgen receptor) gene binds the two PSA (prostate-specific antigen) alleles with differing affinities and may differentially influence prostate cancer risk. In this article, we report a case of adenocarcinoma of the prostate in a 56-year-old man with Klinefelter syndrome (47,XXY) and non-Hodgkin lymphoma, as well as the AR and PSA genotype. AR and PSA gene polymorphisms were analyzed by polymerase chain reaction-based methods using DNA from peripheral white blood cells and the prostate cancer. We determined the methylation status of the AR gene on the X chromosome. The patient presents with the AG genotype for the ARE-I (androgen response element) region of the PSA gene. We detect the presence of two short AR alleles with 19 and 11CAG repeats each. Unmethylated alleles were demonstrated for both. The shorter allele was inactive in more than 60% of total DNA in both control blood and prostate cancer cells. The presence of short AR alleles and the G allele of the PSA gene may contribute to the development of prostate cancer in a 47,XXY patient. (C) 2004 Elsevier B.V. All rights reserved.

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The Ramsay Hunt syndrome is a rare disease caused by an infection of the geniculate ganglion by the varicella-zoster virus. The main clinical features of the syndrome are as follows: Bell palsy unilateral or bilateral, vesicular eruptions on the ears, ear pain, dizziness, preauricular swelling, tingling, tearing, loss of taste sensation, and nystagmus. We describe a 23-year-old white woman, who presented with facial paralysis on the left side of the face, pain, fever, ear pain, and swelling in the neck and auricular region on the left side. She received appropriate treatment with acyclovir, vitamin B complex, and CMP nucleus. After 30 days after presentation, the patient did not show any signs or symptoms of the syndrome. At follow-up at 1 year, she showed no relapse of the syndrome.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)