J Res Med Sci
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Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives. ⋯ According to the literature, the detected change is a novel mutation. We hypothesized that the discovered deletion in the GAA might lead to a reduced activity of the gene product.
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Polycystic ovary syndrome (PCOS) is the most common female endocrine disorder with unknown etiology and with different complications. The aim of this study was to evaluate the effect of omega-3 supplementation on PCOS symptoms and metabolic syndrome. ⋯ Omega-3 decrease lipid profiles, WC, and interval between periods while weight, hip circumference, fasting blood sugar, number of ovarian follicle, size of ovary, bleeding volume, menstrual bleeding, and hirsutism score did not change by administration of omega-3.
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Hepatitis B is a dangerous disease with high morbidity and mortality rates all around the world. Vaccination is the most important way to its prevention and control. This cross-sectional study was carried out to study the levels of immunogenicity to hepatitis B vaccine in students. ⋯ Reverse significant relation was seen between the respond to vaccine and age and BMI in a way which the titers of antibody were lower in students with higher age and BMI.
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In this study, we aimed to determine comprehensive maternal characteristics associated with birth weight using Bayesian modeling. ⋯ Higher maternal macro- and micro-nutrient intake during pregnancy was associated with a lower risk of delivering low birth weight infants. These findings support recommendations to expand intake of nutrients during pregnancy to high level.
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There is interest about the role of platelet (PLT) number and function in nonalcoholic fatty liver disease (NAFLD). NAFLD patients have abnormalities of PLT number and function, especially mean platelet volume (MPV) which is known as a novel biomarker for atherosclerosis. We decided to compare PLT number and function between NAFLD and healthy participants. ⋯ Higher MPV was found to be significantly associated with NAFLD. However, such significant association was not detected regarding PLT count or PDW. As MPV is a reported risk factor for atherosclerosis, this marker may be useful in follow-up of patients with NAFLD. These findings provide basis for further studies to address this marker in long-term follow-up of NAFLD patients.