Indian Journal of Genetics and Molecular Research

Perrault syndrome is an autosomal recessive disorder with sensorineural hearing loss in both female and male, and gonadal dysgenesis in female only. We present here a case which presented to our gynae department with complain of primary amenorrhoea. She was congenitally deaf and mute, born out of non consanguinous marriage. She had delayed developmental milestones. On examination she had delayed pubertal development with normal external genitalia. Pelvic sonogram showed hypoplastic uterus with streak gonad. Hormonal tests revealed hypergonadotrophichypogonadism (raised FSH with low estradiol). Karyotype was normal (46 XX). Audiology showed profound bilateral sensorineural hearing loss. MRI brain showed demyelination in deep white matter and periventricular region of parietal and occipital lobes.

Obesity is defined as Body Mass Index (BMI) of more than 95th percentile for age and sex. It is on rise and affecting not only people in developed countries but also those in developing and modernizing countries. Obesogenic environment has resulted in major healthcare problem of obesity, but there is also substantial evidence for the heritability of obesity, and research in both rare and common forms of obesity has identified genes with significant roles in its etiology. However, many genes and variations do not fully explain the heritability of obesity, epigenetic markers may also be playing important role. Advances in genetic technology and application of clinical epidemiology will have a huge impact making the picture clearer. Though not exhaustive, this review will focus on our current knowledge and Understanding of the role of genetic factors in obesity.

The current work demonstrated about the clinical relevance of the molecular characterization of Herpes Simplex Virus in CSF specimens for the detection of Neurotrophic virus i.e. HSV genotypes 1 & 2 in Meningitis/ encephalitis cases.

Pioglitazone, a class of thiazolidinedione (TZDs) is a ligands for peroxisome poliferator activated receptor gamma (PPAR). Activation of PPAR receptors negatively regulates bone haemostasis. The present study focuses mainly into two categories firstly generation of functional osteoclasts and second, to study the impact of pioglitazone and estrogen on bone health. whole blood were taken from diabetic and non diabetic postmenopausal women to measures the baseline parameters and for isolation of peripheral blood mononuclear cells (PBMC) and cultured in osteoclasts medium for 14 days into following five groups: PBMCs from non diabetic postmenopausal women, PBMCs from type 2 diabetic postmenopausal women, PBMCs from type 2 diabetic Postmenopausal + Pioglitazone, PBMCs from type 2 diabetic Postmenopausal + Pioglitazone + 17 beta estradiol and PBMCs from type 2 diabetic Postmenopausal + 17 beta estradiol. Mrna expression was analysed for Cathepsin K. Increase in the numbers of TRAP positive multinucleated cells was observed in pioglitazone treated cells of type2 diabetic postmenopausal women (88.12 ± 12.25, p<0.001) as compared to type2 diabetic (46.46 ± 11.54), non diabetic (40.85 ± 9.45) co treated (68.44 ± 15.12, p<0.01) and estrogen treated type 2 diabetic postmenopausal women (39.12 ± 9.11, p <0.0001). In addition the expression ratio of Cathepsin K mRNA was significantly greater in pioglitazone treated type2 diabetic postmenopausal women as compared to other groups (p<0.05). We found that, PPARã agonist pioglitazone induced formation of TRAP positive multinucleated cells and upregulates the expression of bone resorption gene Cathepsin K leading to osteoclastogenesis in type2 diabetic postmenopausal women.