Identification of sequence variations in the apolipoprotein A2 gene and their relationship with serum high-density lipoprotein cholesterol levels

Background: Apolipoprotein A2 [APOA2] is the second major apolipoprotein of the high-density lipoprotein cholesterol [HDL-C]. The study aim was to identify APOA2 gene variation in individuals within two extreme tails of HDL-C levels and its relationship with HDL-C level

Methods: This cross-sectional survey was conducted on participants from Tehran Glucose and Lipid Study [TLGS] at Research Institute for Endocrine Sciences, Tehran, Iran from April 2012 to February 2013. In total, 79 individuals with extreme low HDL-C levels [/=95[th] percentile for age and gender] were selected. Variants were identified using DNA amplification and direct sequencing

Results: Screen of all exons and the core promoter region of APOA2 gene identified nine single nucleotide substitutions and one microsatellite; five of which were known and four were new variants. Of these nine variants, two were common tag single nucleotide polymorphisms [SNPs] and seven were rare SNPs. Both exonic substitutions were missense mutations and caused an amino acid change. There was a significant association between the new missense mutation [variant Chr.1:16119226, Ala98Pro] and HDL-C level

Conclusion: None of two common tag SNPs of rs6413453 and rs5082 contributes to the HDL-C trait in Iranian population, but a new missense mutation in APOA2 in our population has a significant association with HDL-C

Association of lecithin cholesterol acyltransferase rs5923 polymorphism in Iranian individuals with extremely low high-density lipoprotein cholesterol: Tehran lipid and glucose study

The serum concentration of high-density lipoprotein cholesterol [HDL-C] is one of the important heritable risk factors for cardiovascular disease and is a target for therapeutic intervention. In this study, we aimed to evaluate the effects of lecithin cholesterol acyltransferase [LCAT] gene polymorphism rs5923 on LCAT enzyme activity and serum HDL-C concentration. The study population was selected from consecutive individuals with HDL-C /= 95[th] percentile [n = 57] who had participated in the Tehran Lipid and Glucose Study. The rs5923 polymorphism was genotyped using direct sequencing. LCAT activity was measured by fluorometric assay kit, and lipid concentrations were measured using the enzymatic colorimetric method. The genotype frequencies were significantly different between the high HDL-C group [CC 94.7%, CT 5.3%] and the low HDL-C group [CC 83.6%, CT 16.4%] [P = 0.048]. The Tallele frequencies in subjects with low and high HDL-C were 0.082 and 0.026, respectively [P = 0.16]. The association of the single-nucleotide polymorphism rs5923 with low HDL-C was not statistically significant after adjustment for age, sex, and BMI [odd ratio = 2.65, 95% confidence interval = 0.32-21.5, P = 0.36, regression logistic analysis]. Also, the effects of LCAT enzyme activity did not depend on the HDL-C level [P = 0.24]. rs5923 polymorphism is not associated with low HDL-C levels in Iranian population

Primary thyroid malignancies in Tehran, Iran

The aim of this study was to present a descriptive epidemiology of primary thyroid cancer in Tehran, Iran, using cancer registry data. All cases of thyroid cancer registered from 1998 to 2001 in Tehran Metropolitan Area Population-Based Cancer Registry were used for this study. The incidence of thyroid cancer was estimated for the area covered by the cancer registry. Survival of patients was ascertained by telephone call to the patients or the patient's family and/ or linkage of registry data to mortality data from the Bureau of Vital Statistics. Patient's survival was based on sex, age and morphological type of tumour. Four hundred and twenty-nine cases of primary thyroid cancer were registered in the Tehran Metropolitan Area Cancer Registry. The incidence of thyroid cancer was 3.5 and 1.0 per 100,000 population per year for females and males, respectively. Seventy percent of tumours were papillary, 11% follicular, 6.2% medullary, and the restwere other subtypes. The papillary and follicular variants occurred in younger age: 43 +/- 16 and 46 +/- 13 years, respectively; the medullary and anaplastic variants occurred in older age: over 50 years. A 5-year survival rate was 82.2%, with median survival of 66 months and 95% confidence interval of 63 and 69 months. Men and women had a similar survival experience. While the incidence of thyroid cancer was slightly high, the descriptive epidemiology of thyroid cancer in Tehran did not manifest a unique feature. Tehran patients experienced a high rate of survival, and the survival time for males and females was similar

Diabetes mellitus following pituitary adenomectomy in euglycemic patients with acromegaly

Insulin resistance, impaired glucose tolerance and diabetes mellitus [DM] secondary to acromegaly generally improve following treatment of the underlying disease. In rare cases, in spite of normoglycaemia in the presence of active acromegaly, patients develop diabetes mellitus following pituitary adenomectomy to the extent of requiring insulin therapy. We report 7 patients who developed diabetes mellitus after pituitary adenomectomy. Regular measuring of blood glucose in post-pituitary surgery patients is recommended as a necessary step even in the previously normoglycaemics

[ effect of combination therapy with gliclazide and metformin in control of blood glucose of type 2 diabetics]

Background: gliclazide is a second generation sulfonylurea which its efficacy and safety in the treatment of diabetes has been established. Diamicron MR [30 mg] is a new formulation of gliclazide with modified release which offer once daily dosage administration. This study was designed to assess the effect of combination therapy with diamicron and metformin in the treatment of type 2 diabetes

Methods: 16 patients with type 2 diabetes [2 males, 14 females] more than 35 years old who despite treatment with glibenclamide and metformin had poor diabetes control participated in this clinical trial.HbA1c, lipid profile, liver and renal function tests at the end of study were compared with before

Results: no significant changes was found in FBS, BS2hpp, lipid profile and renal and liver function tests at the end of study. Patients' weight was stable during the study

Conclusion: regardless of well efficacy of diamicron in the treatment of new diabetics cases, it is not recommended for patients with poor diabetes control despite of combination therapy with metformin and glibenclamide

[Cardiovascular screening of children and parents in high-risk families]

Background: cardiovascular disease is one of the major leading cause of death in Iran. There is a strong association between parental history of cardiovascular disease clustering of risk factors in the offspring. Detection and treatment of cardiovascular risk factors since childhood is essential to reduce the incidence of disease in adulthood. This study was performed to identify major cardiovascular risk factors in middle school-aged children and their parents in high risk compared to control families

Methods: the middle schools of the 6th of Tehran were divided randomly into two groups. A total of 169 high-risk children with their families were recruited from the first group while 105 control children with their families were recruited from the second group of schools. Coronary risk factor survey was performed in the participants

Results: prevalence of increased total- and LDL-cholesterol and high FBS were higher in high-risk parents and children. Prevalence of increased BMI was higher in fathers and children of high-risk families. More fathers in high-risk families were smoker. The means of waist circumference and WHR were significantly higher in high-risk fathers. The means of total- and LDL- cholesterol were significantly higher both in parents and children of high-risk group. The means of FBS were significantly higher in fathers and offspring of high-risk families

Conclusion: cardiovascular risk factors are more prevalent and clustered in high-risk families. Screening of these families is essential to prevent progression of cardiovascular disease since childhood and reduce its burden in adulthood