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1.
IJEM-Iranian Journal of Endocrinology and Metabolism. 2010; 11 (5): 543-552
in English | IMEMR | ID: emr-93060

ABSTRACT

Congenital hypothyroidism [CH], the most common congenital endocrine disorder, in childhood and one of the causes of mental retardation, may be caused by defects in the enzymatic cascade of thyroid hormone synthesis, called thyroid dyshormonogenesis, of which thyroid peroxidase gene [TPO] mutations are one of the most common causes. The aim of this study was to assess frequency of TPO gene defects in patients with thyroid dyshormonogenesis in Isfahan province. This was a cross sectional study conducted on 40 patients with permanent congenital hypothyroidism, due to thyroid dyshormonogenesis. Genomic DMA was extracted from the peripheral blood of these patients, using the salting out method. The 17 exonic region of the TPO gene was amplified and mutation screening was performed by single-strand conformational analysis [SSCP] and sequencing. Results demonstrated one missense mutation in the [G2669A] location of exon 15 in one patient and seven different single nucleotide polymorphisms [SNPs] in exons 1, 7, 8, 11 and 15 of the TPO gene. Frequency of TPO gene mutation in this study was lower in comparison to other similar studies. It remains possible that in these patients, the disorder was caused by a TPO gene defect in regulatory or intronic regions. In addition, methods besides SSCP analysis and detection of other gene defects in thyroid dyshormonogenesis need to be further investigated in this field


Subject(s)
Humans , Child , Congenital Hypothyroidism/genetics , Congenital Hypothyroidism/enzymology , Mutation/genetics , Cross-Sectional Studies
2.
Journal of Shaheed Sadoughi University of Medical Sciences and Health Services. 2006; 13 (5): 41-49
in Persian | IMEMR | ID: emr-164323

ABSTRACT

Serum lipid disorders are one of the important risk factors for development of coronary arterial atherosclerosis. The aim of this study was to compare the effects of the drug lovastatin and a liquid vegetable extract [dill] on blood plasma lipid levels of rats. In this experimental study, 32 mouse vistar rats weighing 250 +/- 30 grams were included and maintained at 23 +/- 1 degrees Celsius. The rats were divided into 4 groups of 8 rats each. Groups I and II were given normal and high cholesterol diet, while groups III and IV were given high cholesterol diet with either lovastatin or seed dill extract for a period of 3 weeks, respectively. At the end of study, blood samples were taken and plasma lipid levels determined by the manual method. [It is worth mentioning that ultimately 26 rats were included in the study groups]. Results showed that both administration of lovastatin and the seed dill extract led to a significant reduction in plasma levels of cholesterol, triglycerides, LDL and LDL/HDL, TG/HDL ratios. There was a significant reduction in the levels of LDL [P<0.001] and also a significant increase in levels of HDL [P<0.001] in both the groups. The effects on plasma triglycerides levels, LDL/HDL and TG/HDL ratios were not significant. Considering the results of the study, seed dill extract affects plasma lipid levels and is more effective in lowering plasma cholesterol and LDL levels as compared to lovastatin


Subject(s)
Animals, Laboratory , Anethum graveolens , Lovastatin , Cholesterol, LDL , Rats, Wistar , Plant Extracts , Seeds
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