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1.
Sleep ; 42(7)2019 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-30994175

RESUMO

STUDY OBJECTIVES: To evaluate the associations between sedentary time, total (total-PA), light (light-PA), moderate (MOD-PA), and vigorous (VIG-PA) physical activity with indices of sleep in postmenopausal women. METHODS: Baseline self-reported data from the Women's Health Initiative Observational Study (n = 75 074) were used in this cross-sectional analysis. Total-PA, light-PA, MOD-PA, and VIG-PA were categorized by metabolic equivalents of the activity (MET-hour [hr]/week [wk]) and were estimated using validated questionnaires. Sedentary time was categorized by hr/day and was estimated via questionnaire. Logistic regression was used to examine the associations between these variables and short sleep (≤6 hr/night), long sleep (≥10 hr/night), poor sleep quality, and insomnia symptoms after adjustment for age, race, socioeconomic status, body mass index, health status, depressive symptoms, smoking status, alcohol use, hormone therapy, and comorbidities. RESULTS: Higher sedentary time (>11 hr/day) was associated with higher odds of short sleep (odds ratio [OR] = 1.80, 95% confidence interval [CI]: 1.72-1.88), poor sleep quality (OR = 1.85, 95% CI: 1.74-1.97), and insomnia symptoms (OR = 1.56, 95% CI: 1.49-1.64). Light-PA (>0 MET-hr/wk) was associated with lower odds of short sleep (OR = 0.96, 95% CI: 0.92-1.00), and higher amounts of total-PA (OR = 0.90, 95% CI: 0.84-0.97), light-PA (OR = 0.94, 95% CI: 0.89-1.00), and MOD-PA (OR = 0.91, 95% CI: 0.86-0.97) were associated with lower odds of poor sleep quality. CONCLUSIONS: Our findings suggest that higher levels of light and moderate intensity physical activity are associated with better sleep quality, whereas higher amounts of sedentary time are associated with short sleep and lower quality sleep. Future studies should investigate the directionality of these associations and potential causal pathways.


Assuntos
Exercício Físico/fisiologia , Comportamento Sedentário , Distúrbios do Início e da Manutenção do Sono/fisiopatologia , Sono/fisiologia , Índice de Massa Corporal , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Pós-Menopausa/fisiologia , Fumar , Inquéritos e Questionários , Fatores de Tempo
2.
Am J Med Genet A ; 173(5): 1309-1318, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28371260

RESUMO

Costello syndrome is part of the RASopathies, a group of neurocardiofaciocutaneous syndromes caused by deregulation of the RAS mitogen-activated protein kinase pathway. Heterozygous mutations in HRAS are responsible for Costello syndrome, with more than 80% of the patients harboring the specific p.Gly12Ser variant. These individuals show a homogeneous phenotype. The clinical characteristics of the Costello syndrome individuals harboring rarer HRAS mutations are less understood, due to the small number of reported cases. Here, we describe the phenotypic spectrum of five additional individuals with HRAS c.38G>A; p.Gly13Asp, including one with somatic mosaicism, and review five previously described cases. The facial and hair abnormalities of the HRAS p.Gly13Asp individuals differ from the typical pattern observed in those showing the common HRAS (p.Gly12Ser) mutation, with less coarse facial features and slow growing, sparse hair with abnormal texture, the latter resembling the pattern observed in Noonan syndrome-like disorder with loose anagen hair and individuals harboring another amino acid substitution in HRAS (p.Gly13Cys). Although some individuals with HRAS p.Gly13Asp developed papillomata and vascular proliferation lesions, no malignant tumors occurred, similar to what was reported for individuals harboring the HRAS p.Gly13Cys. The fact that no malignant tumors were described in these individuals does not allow definitive conclusions about the risk for cancer development. It remains to be determined if substitutions of amino acid 13 in HRAS (p.Gly13Asp and p.Gly13Cys) increase the risk of tumor development.


Assuntos
Anormalidades Múltiplas/genética , Síndrome de Costello/genética , Neoplasias/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Substituição de Aminoácidos/genética , Aminoácidos/genética , Criança , Pré-Escolar , Síndrome de Costello/complicações , Síndrome de Costello/fisiopatologia , Feminino , Mutação em Linhagem Germinativa , Humanos , Masculino , Mosaicismo , Neoplasias/complicações , Neoplasias/fisiopatologia , Fenótipo
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