J Res Med Sci
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Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease. Although imaging techniques are a means of accurate diagnosis when the cysts appear in the third or fourth decades of the patient's life, they are of little value for early diagnosis. Genetic tests are required for preimplantation genetic diagnosis, decision-making for kidney donation to an affected relative. Although mutation of the polycystic kidney disease (PKD1) gene is solely responsible for the most cases of ADPKD, direct genetic testing is limited by the large size of this gene and the presence of many mutations without hot spots. Therefore, indirect diagnosis with linkage analysis using informative microsatellite markers has been suggested. ⋯ Based on this data, D16S475 and D16S291 are highly and D16S3252 is moderately informative for indirect genetic diagnosis of PKD1 mutations in this population.
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The transcription factor 7-like 2 gene (TCF7L2) is an element of the Wnt signaling pathway. There is lack of evidence if TCF7L2 has a functional role in lipid metabolism and regulation of the components constitutes the metabolic syndrome (MetSyn). The aims of this study were to evaluate whether the risk allele of TCF7L2 gene polymorphism is associated with dyslipidemia and MetSyn. ⋯ The results revealed the important insights essential for the role of TCF7L2 that the T allele of TCF7L2 plays a significant role in the susceptibility to dyslipidemia, MetSyn, and T2D.
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This study was conducted to assess the validity and reliability of ankle-brachial index (ABI) by oscillometric blood pressure (BP) measurement as compared with an automated ABI as a gold standard. ⋯ The oscillometric BP method is a reliable and useful alternative to conventional automated ABI determination in patients with no severe arterial occlusion for estimation of the prevalence and screening of PAD in primary health-care settings.
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Vitamin D deficiency may play a key role in the development of impaired glucose tolerance, type 2 diabetes mellitus (T2DM), and metabolic syndrome. Several studies have shown that Vitamin D has an antioxidant property. We aimed to investigate 25-hydroxy Vitamin D (25[OH]D) levels in patients with T2DM and in nondiabetic healthy controls and to ascertain the impact of 25(OH)D levels on glycemic control and oxidative stress in T2DM patients. ⋯ We conclude that low level of Vitamin D might play a significant role in T2DM pathogenesis. Hence, Vitamin D supplementation may improve glycemic control and oxidative stress in T2DM.
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Neonate with abnormal weight is at risk of increased mortality and morbidity. Many factors affect pregnancy outcome. Because of the importance and vital role in birth weight, in this study, some of the factors associated with birth weight in a sample of Iranians neonates were investigated. ⋯ Gestational age, sex, distance from a previous pregnancy, maternal weight, type of delivery, number of abortion, and birth rank were related with birth weight. Due to the termination of pregnancy and avoid unnecessary deliveries through cesarean section and other related factors should be further consideration by childbirth experts. In addition, factors affecting these variables are carefully identified and prevented as much as possible.