1000 resultados para Charles Perry


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Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

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Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

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Dissertação de mest., Ciências, Faculdade de Ciências do Mar e do Ambiente, Univ. do Algarve, 2009

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O racionalismo surge como uma corrente filosófica, cuja operação mental e lógica é evidenciada. Sendo a principal característica do pensamento moderno o método, a bauhaus representa para o design a forma como a indústria se despiu dos ornamentos, buscando o ideal de forma e função. Numa corrente contemporânea, o design emocional retoma, além das funções que um objeto pode ter, estéticas, práticas e simbólicas, também as emocionais de identificação, fazendo rever os métodos. Este artigo faz uma relação deste contexto com a forma brilhante com que o casal Charles e Ray Eames, criou um método absolutamente emocional para a criação do design, iniciando, com a invenção do contraplacado, e depois com acesso a diversas tecnologias advindas do pós-guerra, um processo muito interessante de construção de design, aliando arte e técnica, produzindo assentos atemporais, encontrados facilmente no mundo contemporâneo.

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Disease characteristics. Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. Diagnosis/testing. The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene known to be associated with Perry syndrome. Management. Treatment of manifestations: Dopaminergic therapy (particularly levodopa/carbidopa) should be considered in all individuals with significant parkinsonism. Although response to levodopa is often poor, some individuals may have long-term benefit. Noninvasive or invasive ventilation support may improve quality of life and prolong life expectancy. Those patients with psychiatric manifestations may benefit from antidepressants and psychiatric care. Weight loss is managed with appropriate dietary changes. Surveillance: routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), strength; and mood. Agents/circumstances to avoid: Central respiratory depressants (e.g., benzodiazepines, alcohol). Genetic counseling. Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to de novo mutations is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation. No laboratories offering molecular genetic testing for prenatal diagnosis are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.

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1913 (A4,T4,N13)- (A4,T4,N16).

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1914/01 (A5,T5,N17)-1914/06 (A5,T5,N18).