Prader Willi Syndrome
Mostrando 1-12 de 77 artigos, teses e dissertações.
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1. Prader-Willi syndrome: endocrine manifestations and management
ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density.
Arch. Endocrinol. Metab.. Publicado em: 2020-06
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2. Type 2 diabetes as a major risk factor for COVID-19 severity: a meta-analysis
ABSTRACT Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density.
Arch. Endocrinol. Metab.. Publicado em: 2020-06
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3. Cirurgia bariátrica em indivíduos com déficits cognitivos graves: relato de dois casos
RESUMO CONTEXTO: A cirurgia bariátrica tornou-se o tratamento padrão ouro para a obesidade mórbida refratária. A obesidade está frequentemente associada a certas síndromes nas quais também coexistem déficits cognitivos, entretanto, os resultados da cirurgia bariátrica nesse grupo de indivíduos ainda não foram completamente determinados. RELATO
Sao Paulo Med. J.. Publicado em: 20/04/2017
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4. A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy
SUMMARY Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to repo
Arch. Endocrinol. Metab.. Publicado em: 25/08/2016
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5. A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
OBJECTIVE: Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome. The purpose of this study was to describe the most significant clinical features of 35 Brazilian patients with molecularly con
Clinics. Publicado em: 2012-08
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6. Contagem numérica e recuperação de fatos aditivos em estudantes com síndromes do x-frágil e de prader-willi
As dificuldades de aprendizagem matemática constituem um campo bastante complexo e ainda relativamente pouco explorado. Pesquisas com síndromes associadas ao baixo desempenho matemático indicam que há diferentes perfis cognitivos subjacentes às dificuldades na matemática e nos mostram que nem toda dificuldade de aprendizagem matemática é originada da
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 2012
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7. Comparação do perfil cognitivo de crianças e adolescentes com Síndrome de Williams, Síndrome do X-Frágil e Síndrome de Prader-Willi / Comparison of cognitive profile of children and adolescents with Williams Syndrome, Fragile X Syndrome and Prader-Willi Syndrome
As síndromes genéticas de Williams (SW), do X-Frágil (SXF) e de Prader-Willi (SPW) apresentam déficit cognitivo geral que varia do grau leve ao moderado. Apesar de compartilharem rebaixamento da inteligência como um todo, prejuízos e potencialidades em habilidades cognitivas específicas dessas síndromes são amplamente descritos na literatura interna
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 22/11/2011
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8. Comparação dos fenótipos comportamentais de crianças e adolescentes com síndrome de Prader-Willi, síndrome de Williams-Beuren e síndrome de Down
There are few studies in Brazil that comprise the theme of behavioral phenotypes in people with genetic syndromes. The knowledge of behavioral patterns associated with such syndromes contributes to the planning of standardized therapeutic assessment, intervention and handling strategies, and for an improvement in assistance practices. This study presents thr
Publicado em: 2009
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9. Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was
Brazilian Journal of Medical and Biological Research. Publicado em: 2008-08
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10. Perfil comportamental e cognitivo de crianças com a síndrome de Prader Willi
A Síndrome de Prader Willi (SPW) é uma doença genética de origem paterna causada pela perda de expressão de genes no cromossomo 15. Alguns sintomas patognomônicos da doença são a hiperfagia e a obesidade que, na maioria dos casos, ocorre antes dos seis anos e compromete severamente a qualidade vida desses pacientes. O presente estudo se concentrou na
Publicado em: 2008
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11. Paradoxos da maternidade na síndrome de Prader-will
Assuming that the birth of a deficient child constitutes a narcisistic wound to its mother, this work aims to analyze the effects of the birth of a child affected by the Prader-Willi syndrome, concerning its mothers psychism and subjectivity. This genetic syndrome is rare and unknown by most of the scientific community; its main symptom is bing eating, which
Publicado em: 2005
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12. Phenotypic and behavioral variability within Angelman Syndrome group with UPD
The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58
Genetics and Molecular Biology. Publicado em: 2002