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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Investigating the psychometric properties of existing psychometric scales in societies with differing dynamics can help with their external validity. This research specifically aimed at standardization and validation of Interpersonal Sensitivity Measure (IPSM) scale in Iran. ⋯ The IPSM showed good validity and reliability and could be useful in assessing interpersonal sensitivity in Iranian population.
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Chronic inflammation is one of the causes of anemia in chronic renal failure patients under hemodialysis. Probiotics probably establish a balance between pro- and anti-inflammatory cytokines. The study was conducted to determine the effects of probiotic supplementation on hemoglobin (Hb) in hemodialysis patients. ⋯ Probiotic supplementation decreased Hb fluctuations in hemodialysis patients but did not result in a significant increase in Hb levels. Similar studies are therefore recommended to be conducted with a prolonged duration of the study or an increased probiotic dose with larger sample size to complete the results of the present study.
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The aim of this study was to assess the atheromatous plaque, in the abdominopelvic arteries as a marker of cardiac risk in patients with or without gallstone disease (GD). ⋯ We demonstrated a direct relationship between GD and abdominopelvic atheromatous plaque, which is a marker for increased cardiovascular risk, for the first time in the literature. Patients with GD exhibit greater abdominopelvic atherosclerosis and therefore, have a higher risk of cardiovascular disease.
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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.