JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)
Year:2011 | Volume:29 | Issue:139|Papers Count:6

Background: Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies comparing with other countries, the high rate of parental consanguinity and the role of DUOX2 gene in transient CH and permanent CH due to dyshormonogenesis, the aim of this research was to investigate the mutations of DUOX2 gene in patients with transient or permanent CH due to dyshormonogenesis.Methods: In this descriptive prospective study, patients diagnosed with transient CH and permanent CH due to dyshormonogenesis during CH screening program, were selected. Venous blood sample was obtained to determine the 3 mutations Q36H, R376W, D506N of DUOX2 gene using Real-time PCR HRM method by specific primers and complementary molecular methods such as Sequencing.Findings: In this study 25 and 33 CH patients with transient CH and permanent CH due to dyshormonogenesis were studied respectively. 30 children studied as control group. We did not find any mutation of the mentioned three mutations of DUOX2 gene.Conclusion: Considering the findings of current study, it seems that further studies with other methods and also with considering other gene mutations such as pendrin, NIS and thyroglobulin is needed for more accurate conclusion.

Background: Carnitine deficiency is a common condition in patients on maintenance hemodialysis that contributes to dyslipidemia, anemia, and poor general health in these patients. We evaluated the effect of oral L-carnitine supplementation on lipid profile, anemia, and quality of life in hemodialysis patients. Methods: This randomized, double-blinded, placebo-controlled, trial was conducted on dyslipidemic patients on maintenance hemodialysis. Patients in the intervention group (n=24) received 1 g/d of L-carnitine and the placebo group (27 patients) were similarly taking placebo for 16 weeks.Concentrations of plasma triglycerides, total cholesterol, HDL (High density lipoprotein), LDL (Low density lipoprotein), hemoglobin, erythropoietin dose, and quality of life (QOL or Quality of life, using Short-Form Health Survey) were measured at baseline and 8 and 16 weeks after the beginning of the intervention.Findings: After the intervention, there was a significant decrease in triglyceride (-31.1±38.7 mg/dl, P=0.001) and a significant increase in HDL (3.7±2.8 mg/dl, P<0.001) and hemoglobin (0.7±1.7 g/dl, P=0.037) concentrations in the carnitine groop. Decrease in total cholesterol concentration in the carnitine group was not statistically significant (-6.6±16.0 mg/dl, P=0.055). No significant change was seen in LDL concentration in any group (P>0.05). Erythropoietin dose was significantly decreased in both the carnitine (-4750±5772 mg, P=0.001) and the placebo (-2000±4296 mg, P=0.033) groups. No improvement was observed in QOL scores or its domains in any group.Conclusion: In patients on maintenance hemodialysis, oral L-carnitine supplementation has significant beneficial effects on lipid profile. Also, it can increase hemoglobin concentration and subsequently reduce needed erythropoietin dose, but has no considerable effect on quality of life in hemodialysis patients.

Background: The effects of occupational exposure on liver function in oil refinery workers are not well known. In this study we evaluated the liver enzyme abnormalities among coal tar refinery workers.Methods: The oil refinery workers in central part of Iran (Isfahan city) underwent routine annual medical examination from 2006 to 2007. A total of 66 cases with abnormal levels of aminotransferases were included in this cross-sectional study. Liver diseases including viral, metabolic and autoimmune hepatitis were excluded by detailed investigations. The relationships of different findings and liver enzymes were evaluated through inferential statistics.Findings: All patients were male with the mean age of 36.7±4.8 years. Thirty eight subjects had dyslipidemia (61.3%). There were significant correlations between triglyceride or cholesterol concentrations and aminotransferases levels. From 40 cases, 35 cases (87.5%) demonstrated ultrasonographic fatty livers. Also, significant correlations were found between cholesterol and Gamma-glutamyl transpeptidase (GGT) levels. There were not significant differences in levels of aminotransferases among different type of work (P>0.05).Conclusion: Direct occupational exposure to oil refinery products may play an important role in liver enzyme abnormalities. Exposure to coal tar components such as phenols, poly aromatic hydrocarbons chemicals may be a risk factor for NASH (Non-alcoholic Steato-hepatitis). Liver biopsy and long term follow-up can be helpful for definite diagnosis and determination of prognosis.

Background: This study was conducted to assess the prevalence of Hepatitis C virus (HCV), Hepatitis B virus (HBV) and Human Immunodeficiency virus (HIV) among hemophilia and thalassemia patients.Methods: This cross-sectional study was conducted from October 2008 to December 2010 in Isfahan, Iran.1160 adult multi-transfused patients suffering from beta-thalassemia (n=545) and hemophilia (n=615) were enrolled in the study. Blood samples were obtained from the patients and were tested for HBs Ag, Anti-HCV Ab and Anti-HIV Ab. Patients with HCV positive underwent genotype determination.Findings: 822 males and 338 females (mean age 22.7±11.5 years, range 1-76 years) were investigated in this study.312 males (57.2%) and 233 (42.8%) females had thalassemia.511 (83%) males and 104 (17%) females were in hemophilia group. Of the 505 (82.1%) persons with chronic hepatitis in hemophilia patients, 495 (98%) patients were HCV antibody positive and 10 (2%) patients had HBs positive. There were 56 (11%) patients with chronic hepatitis in patients with thalassemia. Of them, 50 (89.2%) patients were HCV antibody positive and 6 (10.8%) patients had HBs positive. None of the thalassemia and hemophilia patients was positive for HIV Ab. HCV genotype 1 was the major genotype among patients.Conclusion: HCV is a major virus of concern in the multi-transfused patients. The strategies for prevention of HBV and safety of blood products in this respect have indeed been successful. Family History of hepatitis is the major risk factors among patients.

Background: Breast cancer is the most common site-specific cancer in women and is of the major leading causes of death from cancer for women aged 20 to 59 years. This study aimed to demonstrate certain biological, clinical and pathological characteristics and to evaluate the breast receptors of patients with this disease.Methods: In this retrospective and descriptive study, 54 patients with breast cancer were selected to participate. All the cases were treated by modified radical mastectomy (MRM). Data was gathered from patients’ records.Findings: The mean age at which breast cancer was first diagnosed, was 50.23 years (Range: 32-75, SD=11.00 years) and 86.8% of tumors were invasive ductal carcinoma. The mean tumor size was 4.95 cm (Range: 1-11, SD=2.64 cm).39 cases were estrogen receptor positive (72.22%) that 19 of them were in patients with right breast tumor.12 patients (80%) of 15 cases with negative estrogen receptor, had tumor in right breast. In 33 cases which were progesteron receptor positive, 17 had right breast tumor.14 patients, of 21 cases with negative progesterone receptor, had tumor in right breast.Conclusion: Most of the patients with negative estrogen or progesterone receptor, had tumors in right breast. So, it may be an important proposition in breast cancer world to discover more about it.