Association of 3'UTR variations of EGFR and KRAS oncogenes with clinical parameters in lung cancer tumours.

Bacground Information: Lung cancer is one of the leading types of cancer deaths worldwide, with approximately 2 million people diagnosed with lung cancer each year. In this study, we aimed to determine the exonic and 3'UTR sequences of EGFR, PIK3CA and KRAS genes in 39 sporadic lung cancer tumors and to reveal the changes in the miRNA binding profile of tumors with somatic variation in the 3'UTR region and to examine the relationship of these changes with clinical parameters.

Results: A statistically significant correlation was found between the presence of miRNA that could not bind to the 3'UTR region due to variation in at least one of the EGFR or KRAS genes and the presence of metastasis in the tumor.

A novel gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

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

Variant Analysis of miRNA Regulatory Genes in 35 Sporadic Lung Carcinoma Tumors.

Unlabelled: Lung cancer is one of the cancer types with the highest mortality worldwide. The most frequently mutated genes known to be clinically important in lung cancers are EGFR, BRAF, and KRAS genes. Therefore, the therapeutic agents developed are directed against variants that cause over-activation of the EGFR-KRAS-BRAF-BRAF-MEK/ERK signalling pathway.

Chromosome 1p status in neuroblastoma correlates with higher expression levels of miRNAs targeting neuronal differentiation pathway.

Neuroblastoma (NB) is characterized by acquired segmental and numerical chromosome aberrations. Although deletions of distal 1p and 11q are frequent alterations, no candidate tumor suppressor gene residing in these chromosomal sites could be identified so far. In the present study, we detected the genomic imbalances of six neuroblastoma cell lines using the multiplex ligation-dependent probe amplification (MLPA) technique and the microRNA (miRNA) expression profiles of the cell lines by a microarray study.

Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.

Purpose: Common polymorphic variants upstream of Zinc finger protein gene 469 (ZNF469) have been associated with central corneal thickness. Rare ZNF469 variants have been shown in keratoconus patients. The aim of the current study was to investigate the frequency of ZNF 469 gene variants in rapidly progressive advance keratoconus patients who underwent corneal transplant surgery by the age of 30, compared to their frequency in the normal Turkish population.

Is There A Systemıc Inflammatory Effect of Cholesteatoma?

 Inflammation causes squamous epithelial transformation of the mucosa in the middle ear cavity and plays a role in the onset, growth, spread, and recurrence of cholesteatoma.  The objective of this study is to investigate the systemic inflammatory effect in chronic otitis with cholesteatoma.  The study included a total of 311 patients comprising 156 patients with a pathology diagnosis of cholesteatoma and a control group of 155 with no active inflammation.

Chromosomal aberrations in benign prostatic hyperplasia patients.

Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH).

Materials And Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination.

The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique.

Background: Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and the most frequent extra cranial solid tumor of early childhood. These tumors display a wide range of clinical behavior and are characterized by complex chromosomal changes, some of which are associated with distinct clinical phenotypes. We investigated the contribution of genetic variables to staging and histology by logistic regression analyses.

The Importance of the Neutrophil-Lymphocyte Ratio in Patients with Idiopathic Peripheral Facial Palsy.

Objective. The purpose of this study was to investigate whether or not there was a correlation between the neutrophil-to-lymphocyte ratio (NLR) value and the severity of idiopathic peripheral facial palsy (IPFP) and to determine whether or not NLR could be used as an early predictive parameter in the prognosis of IPFP patients. Material and Method.

Amplification of Cellular Oncogenes in Solid Tumors.

The term gene amplification refers to an increase in copy number of a gene. Upregulation of gene expression through amplification is a general mechanism to increase gene dosage. Oncogene amplifications have been shown in solid human cancers and they are often associated with progression of cancer.

Copy number status and mutation analyses of anaplastic lymphoma kinase (ALK) gene in 90 sporadic neuroblastoma tumors.

Somatic and germline mutations of the anaplastic lymphoma kinase (ALK) gene were recently described in neuroblastoma (NB). In this study, we investigated the association of ALK copy number alterations with copy number status 2p24.1 amplicon harboring DEAD box polypeptide 1 (DDX1), MYCN and neuroblastoma-amplified (NAG) genes in 90 primary tumors of sporadic NB cases by multiplex ligation-dependent probe amplification (MLPA).