Arch Med Sci
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Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. ⋯ Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.
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Obesity is associated with increased occurrence of numerous diseases, including hypertension, dyslipidemia, insulin resistance, diabetes, and atherosclerosis. Blood pressure (BP), dyslipidemia, and inflammation markers and their relationships with body mass index (BMI) were determined in scholar adolescents. ⋯ Significant associations were noted between WC, BP, dyslipidemia, inflammation markers, and BMI, indicating that both OW and O adolescents have a tendency to present metabolic syndrome risk factors.
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Higher vitamin D levels and longer telomere length (TL) have been associated with lower risk of several chronic diseases and all-cause mortality. However, direct relationships between 25-hydroxyvitamin D (25(OH)D) levels and TL are not well established. Vitamin D could influence TL through its anti-inflammatory properties. This study aimed to assess the relationship between vitamin D levels and TL in US adults. ⋯ Our findings support a possible positive association between 25(OH)D levels and telomere length. The implications of this association deserve further investigation.
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The new, five-level version of the EQ-5D (EQ-5D-5L) questionnaire has better psychometric properties than the standard three-level version (EQ-5D-3L), including a reduced ceiling effect. Currently, there are few existing population norms for the EQ-5D-5L. The aims of this study were to provide population norms for the EQ-5D-5L in Poland, based on a representative sample of adults, and to compare those with norms from other countries. ⋯ Polish population norms for the EQ-5D-5L should encourage clinicians, economists, and policymakers in Poland to use this questionnaire on a broader scale.
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Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Current theory on the etiology of this disease involves participation of genetic factors and unknown antigens present in the patients' environment. The aim of the study was to evaluate the prevalence of different polymorphic forms of the ACE gene in healthy individuals and sarcoidosis patients, and to estimate the risk of sarcoidosis in carriers of different ACE genotypes living in rural and urban settings. ⋯ Our results do not support the previous concept which suggested a higher incidence of sarcoidosis in individuals living in rural areas and in carriers of selected ACE genotypes. It is possible that this is related to the changing environment of rural areas, increasing urbanization and pollution.