Mutations of BRCA1/2 Genes in the West of Turkey and Genotype-Phenotype Correlations.

Background: Mutations of the BRCA1/2 genes are associated with increased breast and ovarian cancer. The aim of this study was to investigate the founder mutations of the BRCA1 and BRCA2 genes in the Turkish population in the Aegean region as well as their genotype-phenotype correlations.

Methods: All the patients were provided with BRCA1/2 testing criteria according to the National Comprehensive Cancer Network.

Comparison of Changes in SRS-22 Values with Improvement in Cobb Angles after Posterior Fusion Surgery in Adolescent Idiopathic Scoliosis.

Introduction: The purpose of this study was to evaluate the relationship between the correction rate in Cobb angle and the improvement in quality of life profile in terms of Scoliosis Research Society (SRS)-22 values.

Patients And Methods: Between January 2007 and December 2013, posterior instrumentation and fusion was performed to 30 patients with adolescent idiopathic scoliosis (AIS). Patients were grouped according to their improvement rate in Cobb angles after surgery.

Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family.

Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene.

NF-ĸβ upregulates ADAMTS5 expression by direct binding after TNF-α treatment in OUMS-27 chondrosarcoma cell line.

Inflammation caused-aggrecan degradation is a critical event in the pathogenesis of osteoarthritis (OA). The aggrecanases like a disintegrin and metalloproteinase with thrombospondin motifs 5 (ADAMTS5) are assumed to be key players in the aggrecan destruction. To develop the comprehensive therapy method for OA, it is essential to elucidate the activation mechanism of ADAMTS5 gene after stimulation of inflammatory cytokines like tumor necrosis factor-α (TNF-α).

A new clinical entity in T704M mutation in periodic paralysis.

Periodic paralyses (PPs) are a group of rare disorders characterized by episodic, sudden-onset, flaccid paralysis of skeletal muscles usually resulting in complete recovery after the attacks. PPs are caused by abnormal, mostly potassium-sensitive excitability of the muscle tissue. Hypokalemic and hyperkalemic periodic paralysis (HypoKPP and HyperKPP) have been described according to their characteristic phenotypes and the serum potassium level during the attacks of weakness.