Tehran University of Medical Sciences

About: Tehran University of Medical Sciences is a education organization based out in Tehran, Iran. It is known for research contribution in the topics: Population & Cancer. The organization has 35661 authors who have published 57234 publications receiving 878523 citations. The organization is also known as: TUMS.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Abstract: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover “hidden mutations” such as copy number variations (CNVs) and mutations in non-coding regions, we extended the use of NGS data by quantitative readout for the exons of 55 RP and LCA genes in 126 patients, and by including non-coding 5′ exons. We detected several causative CNVs which were key to the diagnosis in hitherto unsolved constellations, e.g. hemizygous point mutations in consanguineous families, and CNVs complemented apparently monoallelic recessive alleles. Mutations of non-coding exon 1 of EYS revealed its contribution to disease. In view of the high carrier frequency for retinal disease gene mutations in the general population, we considered the overall variant load in each patient to assess if a mutation was causative or reflected accidental carriership in patients with mutations in several genes or with single recessive alleles. For example, truncating mutations in RP1, a gene implicated in both recessive and dominant RP, were causative in biallelic constellations, unrelated to disease when heterozygous on a biallelic mutation background of another gene, or even non-pathogenic if close to the C-terminus. Patients with mutations in several loci were common, but without evidence for di- or oligogenic inheritance. Although the number of targeted genes was low compared to previous studies, the mutation detection rate was highest (70%) which likely results from completeness and depth of coverage, and quantitative data analysis. CNV analysis should routinely be applied in targeted NGS, and mutations in non-coding exons give reason to systematically include 5′-UTRs in disease gene or exome panels. Consideration of all variants is indispensable because even truncating mutations may be misleading.

Metabolic syndrome and menopause

Abstract: The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria to classify subjects as having metabolic syndrome. Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value<0.05). Our study shows high abdominal obesity and hypertension are the most prevalent components of metabolic syndrome. 15%, 13.3% and 1.8% of subjects had three, four and five criteria for metabolic syndrome, respectively. There was a significant relationship between number of components of metabolic syndrome and waist circumference. Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

Methodology and Early Findings of the Fourth Survey of Childhood and Adolescence Surveillance and Prevention of Adult Non-Communicable Disease in Iran: The CASPIAN-IV Study

Abstract: Background: This paper presents the methodology and early findings of the fifth survey of a school-based surveillance program in Iran. Methods: This nationwide study was conducted in 2015 as the fifth survey of a surveillance program entitled Childhood and Adolescence Surveillance and PreventIon of Adult Non- communicable disease (CASPIAN-V) study. The protocol was mainly based on the World Health Organization-Global School student Health Survey. We studied 14400 students, aged 7-18 years, and their parents living in 30 provinces in Iran. Fasting blood was obtained from a sub-sample of 4200 randomly selected students. Results: The participation rate for the whole study and for blood sampling were 99% and 91.5%, respectively. The mean (SD) age of participants was 12.3 (3.2) years, consisting of 49.4% girls and 71.4% urban residents. Overall, 16.1% were underweight (17.4% of boys and 14.8% of girls), and 20.8% had excess weight consisting of 9.4% (8.7% of boys and 10.2% of girls) of overweight and 11.4% (12.5% of boys and 10.3% of girls) of obesity. Abdominal obesity was documented in 21.1% of students (21.6% of boys and 20.5% of girls). Low HDL-C was the most prevalent abnormality of the lipid profile (29.5%) followed by high serum triglycerides (27.7%). Of students, 59.9% consumed whole wheat bread; and 57% reported that they never or rarely added salt to table. The reported daily consumption of fresh fruits, vegetables, and milk was about 60%, 32% and 40%, respectively. 13.7% of participants had at least 30-min daily leisure-time physical activity. Conclusions: The current findings provide an overview of the current health status and lifestyle habits of children and adolescents. This surveillance program would help planning preventive programs at individual and community levels.