Variant analysis of the Sirtuin [SIRT1] gene in multiple sclerosis

Multiple sclerosis [MS] is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. Sirtuin 1 [SIRT1] is a neuroprotective enzyme in MS patients. The aim of our study was to investigate the relationship between a genetic variant of SIRT1 and MS. Controlled prospective study Department of Neurology, Bulent Ecevit University Medical Faculty, Zonguldak, Turkey. We determined SIRT1 genotypes by polymerase chain reaction [PCR] and confronting two-pair primers [CTPP] methods in 93 MS patients and 100 healthy controls. For genetic analysis, 5 ml of venous blood was drawn from each patient into tubes containing EDTA. SIRT1 gene polymorphisms and recorded expanded disability status scale [EDSS] for MS patients. We found a significant difference between the rs2273773 polymorphism of the SIRT1 gene of MS and the control group [p = 0.011]. We also found an association between MS disease and the haplotypes of rs7895833, rs7069102 and rs2273773 polymorphisms. We have shown that rs2273773 polymorphism of the SIRT1 gene might be a risk factor for MS disease in the Turkish population. Also, additional studies are needed to clarify the role of the SIRT1 gene in the pathogenesis of MS disease

prevalence of mental retadation by gender, age of diagnosis and location in Zonguldak province, Turkey

To evaluate the prevalence of mental retardation by gender, age of diagnosis, and location in Zonguldak, Turkey. The data of 1909 mentally retarded children recorded between 1995 and 2003 was obtained from the Learning Disability Guidance and Research Centre. Age, gender, IQ scores, the age of diagnosis, and living areas of cases were evaluated. The distribution of mental retardation was as follows; 304 cases [15.9%] were profound and severe, 1060 [55.6%] were moderate and mild, and 545 [28.5%] were borderline. The prevalence of mental retardation was 12.1% [male: 15.1%, female: 9.1%]. Of the cases, 1327 [69.5%] lived in urban areas. Most individuals with severe mental retardation become enrolled in the service system during early childhood, but children with mild mental retardation, especially those with no other neurological impairments, may never enter the system or may not do so until puberty. Most of our cases were diagnosed between the ages of 6 and 10. This proves the importance of school guidance of learning disability and their collaboration with The Learning Disability Guidance and Research Center

Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis

Hereditary renal adysplasia [HRA] is a rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low-set ears, and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thick skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of both ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association, and Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis