The effects of IL-1A and IL-6 genes polymorphisms on gene expressions, hormonal and biochemical parameters in polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a multifactorial disease characterised by chronic inflammation. We aimed to investigate an association between IL-1A and IL-6 gene polymorphisms and both hormonal/biochemical parameters and levels of IL-1A and IL-6. A total of 103 women diagnosed with PCOS according to ESHRE/ASRM criteria were investigated.

The Effects of Polymorphisms of Death Pathway Genes and Mitochondrial Pathway Genes in Intervertebral Disc Degeneration.

Aim: It has been proposed that apoptosis is effective on intervertebral disc degeneration. This study is the first study in which both polymorphisms and expressions of apoptotic genes in patients with intervertebral disc degeneration (IVDD) are evaluated together. The aim of our study is to determine whether polymorphisms and expressions of apoptotic genes involved in both pathways are related with grades of IVDD or not.

Evaluation of tool-like receptor-2 and 4 and interleukin-6 gene expressions in Turkish rheumatoid arthritis patients.

Rheumatoid arthritis (RA) is a progressive inflammatory disease. Although the etiology and pathogenesis of RA are not known well, genetic and environmental factors are proposed to initiate an autoimmune process. We aimed to investigate mRNA expression levels of Toll-like receptor-2 (TLR-2), TLR-4, and interleukin-6 (IL-6) genes in RA disease.

Two different nucleotide substitutions of APC gene in a family with familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome leading to colorectal cancer. This disease appears as a result of germline mutation in adenomatous polyposis coli (APC) gene. The aim of the present study is to report the association between two different nucleotide substitutions detected in a family with FAP.

NUCB2 gene polymorphism and its relationship with nesfatin-1 levels in polycystic ovary syndrome.

Nesfatin-1, encoded by the nucleobindin-2 (NUCB2) gene, is an anorexigenic protein related to energy metabolism, obesity, and insulin resistance. The aim of this study was to evaluate NUCB2 gene polymorphism (rs757081) and its association with serum levels of nesfatin-1 in obese and non-obese women with polycystic ovary syndrome (PCOS). In the study population, we analyzed 60 patients with PCOS and 26 age-matched healthy women as controls.

The prevalence of 4G/5G polymorphism of plasminogen activator inhibitor-1 (PAI-1) gene in central serous chorioretinopathy and its association with plasma PAI-1 levels.

Context: Central serous chorioretinopathy (CSCR) is a poorly understood disease and the choroidal circulation abnormality induced by the plasminogen activator inhibitor type 1 (PAI-1) seems to be associated with the pathogenesis. There are many reports indicating that 4 G/5 G polymorphism of the PAI-1 gene is a risk factor for several diseases related to the elevated serum levels of PAI-1.

Objective: To evaluate the 4 G/5 G polymorphism of the PAI-1 gene and its association with serum levels of PAI-1 in acute CSCR patients.

Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease.

The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation.

677C>T and 1298A>C polymorphisms of methylenetetrahydropholate reductase gene and biochemical parameters in Turkish population with spina bifida occulta.

Aim: This study aimed to investigate the 677C > T and 1298A > C MTHFR gene polymorphisms and their metabolic effects on the levels of folate, vitamin B12 and homocysteine in the serum of Turkish spina bifida occulta (SBO) patients and healthy individuals in disease.

Material And Methods: A case-control study was performed to detect 677C > T and 1298A > C MTHFR gene polymorphisms in 39 SBO patients and 34 healthy individuals. The folate, vitamin B12 and homocysteine concentrations in the serum of SBO and healthy individuals were evaluated and compared with MTHFR gene polymorphisms.

Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disorder, caused by mutations in MEFV gene that encodes pyrin protein. In this study, we analyzed the most common five mutations in MEFV gene of 202 patients who were diagnosed formerly as FMF according to Tel-Hashomer criteria. The results of genetical analysis, clinical symptoms, and demographical aspects of those patients were evaluated retrospectively.

Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.

Hearing loss is the most frequent sensory defect in human being. The 13q11-q12 region contains the GJB2 and GJB6 genes, which code connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively. The 35delG, 167delT, and 235delC mutations in the Cx26 gene are the main cause for sporadic nonsyndromic hearing loss (NSHL) in many populations.

Intracerebral hematoma complicated with brain abscess in an infant. Case report.

A 45-day-old infant presented with a rare case of intracerebral hematoma complicated with brain abscess which developed after vitamin K deficiency. He was admitted to our emergency department with complaints of fever and confusion. Physical, neurological, and laboratory examinations and cranial computed tomography identified vitamin K deficiency and intracerebral hematoma.