Objective. The purpose of this study was to investigate whether or not there a correlation between the neutrophil-to-lymphocyte ratio (NLR) value and severity idiopathic peripheral facial palsy (IPFP) determine NLR could be used as an early predictive parameter in prognosis IPFP patients. Material Method. This retrospective conducted on 146 patients who were diagnosed with IPFP. control group comprised 140 Patients categorized according House-Brackmann grading system (HBS). obtained by...

Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 shown in keratoconus patients. The aim the current study was to investigate frequency ZNF rapidly progressive advance patients who underwent transplant surgery by age 30, compared their normal Turkish population.A search a patient database performed identify requiring 30 at least one eye. Twenty-six (study group) and 109 health subjects (control were...

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss.It the most common form of autosomal recessive juvenile dystrophy.In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for variations using nextgeneration sequencing.In patient group, two variants exon 6 ELOVL4, three 3 detected.All sequence modifications both recorded, including H. Bardak et al. Genetics Molecular Research 15 (4):...

Bacground Information Lung cancer is one of the leading types deaths worldwide, with approximately 2 million people diagnosed lung each year. In this study, we aimed to determine exonic and 3′UTR sequences EGFR , PIK3CA KRAS genes in 39 sporadic tumors reveal changes miRNA binding profile somatic variation 3'UTR region examine relationship these clinical parameters. Results A statistically significant correlation was found between presence that could not bind due at least or metastasis...

<b>Introduction</b> Inflammation causes squamous epithelial transformation of the mucosa in middle ear cavity and plays a role onset, growth, spread, recurrence cholesteatoma. <b>Objectives</b> The objective this study is to investigate systemic inflammatory effect chronic otitis with <b>Methods</b> included total 311 patients comprising 156 pathology diagnosis cholesteatoma control group 155 no active inflammation. Neutrophil-to-lymphocyte Ratio (NLR) was calculated by dividing neutrophil...

The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). patient group consisted 44 who had undergone corneal transplant surgery before age 30, for advanced and rapidly progressive KC. control comprised 250 healthy individuals. We detected two missense mutations, D144N D295Y, exon 2 5 VSX1 gene, respectively, using next-generation sequencing analysis. pathologic effects D295Y mutations on protein function were determined...

Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations (MEFV) gene patients with periodontitis, although roles MEFV FMF FMF-associated amyloidosis (FMF-A) well known. Therefore, aim this study was evaluate frequencies serum amyloid A (SAA) high-sensitivity C-reactive protein (hs-CRP) levels FMF-A.The population included 122 128 subjects who were...

To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH).A total of 54 diagnosed clinical BPH underwent transurethral prostate resection to address their primary urological problem. All were evaluated by use a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA) measurement ultrasonographic volume. Prostate cancer was detected one patient, who then excluded from study....

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries.The ARMS2 gene has been found to be associated with AMD.Currently, intravitreal ranibizumab (IVR) treatment one the widely used treatments for neovascular AMD.The aim this study was investigate association between genotype rs10490924 polymorphism and IVR responsiveness patients included 39 advanced AMD (patient group) 250 healthy individuals exome sequencing data (control group).The H. Bardak et...

Background: Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and most frequent extra cranial solid tumor early childhood. These tumors display wide range clinical behavior are characterized by complex chromosomal changes, some which associated with distinct phenotypes. We investigated contribution genetic variables to staging histology logistic regression analyses. Methods: used multiplex ligation-dependent probe amplification (MLPA) detect segmental genomic imbalances gene...

Aims: The aim of this study was to investigate the clinical significance mutations in AGO2, DICER and DROSHA genes, which are involved miRNA biogenesis, as well TP53, KRAS, BRAF, PI3KCA APC important pathophysiology CRC, their association with metastasis patients diagnosed sporadic colorectal cancer Methods: DNA isolation performed by taking 10-micron sections from paraffin-embedded tissue samples 12 CRC Kapa NGS extraction kit used for sequence analysis. purity concentration obtained...

Aim: To reveal the exonic and 3’UTR sequences of KRAS, TP53, APC, BRAF, PIK3CA genes in sporadic colorectal tumors to investigate clinical relevance variations miRNA profiles. Methods: In study, five 12 were extracted by next generation sequencing. with variation region, changes caused binding profile detected. The expression these miRNAs other solid compared normal tissue was determined. Pathway analysis performed determine which signaling pathways affect. Results: Case-10 our study wild...

Advanced genome sequencing technologies have provided us with the opportunity to deeply understand mechanisms underlying conditions associated genome. There has been significant interest recently in understanding characteristics of de novo mutations, which are genetic changes that arise reproductive cells and not present parents, as well involved their occurrence. These mutations can be transmitted subsequent generations potential influence diversity susceptibility diseases, making this...

Aim: In this study, we aimed to detect the MSI status and somatic mutations in MMR genes (MSH2, MSH6, MLH1, PMS2) of a total 55 solid tumors diagnosed with colorectal, endometrium ovarian cancer by NGS method reveal relationship between them. Material Method: DNA isolation was performed taking 10-micron sections from paraffin-embedded tissue samples patients kolorektal, ve tümörlerinin Kapa extraction kit used for sequence analysis. The purity concentration obtained measured Qubit...

Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary (POAG) with an early age onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) extracellular matrix multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated JOAG in small number patients. Herein, we report novel missense variant the Turkish family JOAG.

Telomeraz TERT Tümorogenez

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It a complex disease with both genetic and environmental risk factors. To improve clinical management this condition, it important to develop assessment prevention strategies for influences, establish more effective treatment approach. The aim present study was investigate age-related maculopathy susceptibility protein 2 (ARMS2) gene sequences among Turkish patients exudative AMD. In addition 39...

TümorogenezKanser TP53 Apoptoz Tümör hücrelerinin hasarlı DNA'ya sahip olmasına rağmen normal hücrelerde görülen bölünme sürecindeki kontrol moleküllerini etkisiz hale getirerek bölünmeye devam ettiği bilinmektedir.p53 genlerinin mutasyonlarının kanserdeki rolü ve önemi yapılan birçok çalışmada gösterilmiştir.Apoptozdan kaçışa neden olan molekülerden biri mutant molekülünün apoptozdaki kaçış mekanizmasında görevi apoptozdan mekanizması aydınlatılarak tümör kontrolsüz çoğalması altına...