Ahmet Uludag

Çanakkale Onsekiz Mart Üniversitesi | ÇOMÜ · Faculty of Medicine

The prevalence of β-thalassemia (β-thal) carriers in Turkey varies according to region but in general it is 2.0%. Çanakkale is a city in the Aegean region of Turkey but no study about β-thal frequency in Çanakkale has been published to date. In this study, we aimed to investigate the frequency of β-thal mutations in this province. A total of 4452 c...

Giriş: Probleme dayalı öğrenme (PDÖ), karmaşık ve gerçek hayat problemlerini ortaya koyar ve öğrencinin çözüme giderken hem analiz, hem de sentez yeteneğini kullanmasını sağlar. Çözüme giderken belirlenen yolları öğrenci kendisi belirler ve kavram haritaları çıkararak öğrenmeyi sağlar. Probleme dayalı öğrenme problemi tanıma ve çözüm için bireyleri...

Obesity is a multifactorial disease which is a risk factor for many diseases with increasing prevalence all over the world in recent years. Genetic predisposition plays an important role in the development of obesity. Identification of genetic factors that cause the disease and to reveal the relationship with the population will increase the succes...

Background: Stroke is an important cause of adult mortality and morbidity; however its pathogenesis is still unknown. Several studies have examined to determine the role of genetic polymorphism of proinflammatory cytokines in the occurence of stroke. The objective of this study was to evaluate the relationship between three polymorphisms; includin...

The aim of this study was to investigate the possible role of multiple inherited thrombophilic gene variations in women with unexplained spontaneous abortions. For this purpose, the Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), PAI-1 4G/5G (rs1799889), ACE I/D (rs1799752), eNOS E298D (rs1799983), and Apo...

The cytochrome P450 2D6 (CYP2D6) is a cytochrome P450 enzyme involved in the oxidative biotransformation of the xenobiotics, carcinogens and various clinically important drugs. Patients are evaluated in three sub-groups of extensive (EM), intermediate (IM) and poor metabolizer (PM) phenotypes due to their drug-metabolising ability for the target CY...

Cholesterol granulomas are defined as cystic lesions containing cholesterol crystals surrounded by foreign body giant cells, fibrous tissue reaction and chronic inflammation. A 31-year-old male patient presented at the thoracic surgery outpatient clinic with a left apical recurrent pneumothorax. Bullectomy with multiple wedge resections was perform...

Research for Mutation and Polymorphism of MC4R (Exon) and FTO (1. intron) Genes in Obese Patients Obezite son yıllarda tüm Dünya’da artan prevalansı ile birlikte birçok hastalık için risk faktörü olan multifaktöriyel bir hastalıktır. Obezite gelişiminde genetik yatkınlık önemli rol oynamaktadır. Hastalığa neden olan genetik faktörlerin belirlenmes...

Psoriasis is a common autoimmune-mediated chronic, inflammatory skin disease. Although, the molecular mechanism is not completely understood, psoriasis is caused by genetic and non-genetic parameters. The current study aimed (1) to define genotype and allele frequency of endothelial nitric oxide synthase (eNOS Glu298Asp) gene polymorphism in hypert...

We aimed to determine in psoriatic arthritis (PsA) patients the Toll-like receptor (TLR) 4 and C-reactive gene (CRP) polymorphisms and allele frequency and to investigate the relationship between clinical parameters and gene polymorphisms. We enrolled in this study 31 PsA and 41 healthy control subjects. PsA diagnosis was according to CASPAR criter...

Aim: We aimed to learn about the mushroom consumption habits of the people and the effects of informing the public about poisonous mushrooms on solving the mushroom poisoning. Methods: This descriptive study was done at Central Anatolia in April and May 2005. A questionnaire was applied including questions about their habits and beliefs while consu...

VEGF gene has been reported to be related with many diseases and recurrent pregnancy loss in various studies. Concerning the role of VEGF polymorphisms in pregnancy losses, generally mothers genotypes have been analyzed. To evaluate the association between VEGF A +405G/C (rs2010963), -460T/C (rs833061), +936C/T (rs3025039) and - 2578A/C (rs699947)...

Summary BACKGROUND: Striae Gravidarum (SG) is a common problem that complicates the pregnancies. We aimed to evaluate the possible etiologic factors of SG and the possible importance of collagen polymorphism on SG. METHODS: Totally 151 parous women were evaluated for SG and its possible risk factors and their collagen1A1 (coll 1A1) gene polymorphis...

Objective: Recently understanding genetic forms and pathogenic mutations has been providing growing knowledges about etiopathogenesis of Parkinson's disease. Leucine-rich repeat kinase 2 gene (LRRK2) G2019S mutation is the most commonly reported mutation amongst autosomal dominant and sporadic Parkinson's disease patients. Aims of our study are to...

The role of inflammation, hyperhomocysteinemia, germ-line genetic markers and epimutations haven't been understood completely in chronic renal failure (CRF). DNA methylation is a postreplicative modification mechanism that is strongly involved in the physiological control of epimutations and gene expression. In the current study it was aimed to fin...

Interaction of environmental factors and the gene polymorphisms has been shown to increase the risk of resulting allergic diseases. In addition to vitamin D forming the cellular immune response, polymorphisms of vitamin D receptors (VDR) has been shown to contribute to asthma and atopy. Our aim is to show the VDR gene polymorphisms in children in o...

Numerical and/or structural chromosomal abnormalities may be a reason of high infertility rates and recurrent pregnancy losses (RPLs) in humans. Karyotype and karyogram profiles of patients with RPLs are presented in current results. A total of 722 patients; 161(44.5%) infertile and 200(55.5%) RPL couples were included in the study. Karyotype and s...

Familial Mediterranean Fever (FMF) is a hereditary disease seen mainly around the Mediterranean. The most common mutations are M694V, M680I, V726A and E148. Neurological findings and magnetic resonance imaging (MRI) abnormalities resembling multiple sclerosis have been reported in a few cases. We present a case where an M694V mutation was found tog...

Aim: Investigate the relationship between MDR1 C3435T polymorphism and colchicine response in Familial Mediterranean fever (FMF) patients. Materials and methods: Patients (n=50) who received colchicine regularly, were willing to participate in the study, and attended control visits were included in the study. MDR1 C3435T genotype was defined by...

Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility...

Background: Various oncogenes related to cancer have been extensively studied and several polymorphisms have been found to be associated with breast cancer. The current report outlines analysis of germ-line polymorphisms for C677T, A1298C (MTHFR), Leiden, R2 (FV) and 5G/4G (PAI-1) in Turkish breast cancer patients. We studied 51 cases diagnosed wi...

Background: P-glycoprotein (Pgp), encoded by the multidrug resistance 1 (MDR1) gene, is an efflux transporter which plays an important role in pharmacokinetics. The current preliminary study was designed to determine associations between a germ-line polymorphism in the MDR1 gene with differentiated thyroid carcinoma (DTC). Materials and methods:...

Abstract Triploidy is the chromosomal anomaly which is the most frequent in spontaneous abortions and there is an increase in the number of chromosomes in haploid number with addition to diploid number chromosomes. It has been reported that approximately 3% of all conceptions are triploidy pregnancies. Most cases of triploidy are aborted spontaneou...

Quantitative fluorescent chain reaction (QF-PCR) is a cheap, rapid and automatized prenatal diagnosis method that is used for prevalent chromosomal abnormalities. We use prenatal aneuploidy screening in an active manner in our hospital. In the study we evaluate retrospectively the amniocentesis results of women that applied to our hospital for a...

Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure e...

We investigated whether the maxillary sinus plays a stimulatory role in nasal nitric oxide (NO) synthesis. Research on sinusitis and nasal polyps has found low NO levels in exhaled air and linked this to obstruction of the ostium. However, the major source of NO in exhaled air is thought to be the nasal mucosa. In this study, Streptococcus pneumoni...

Objectives: We investigated whether the maxillary sinus plays a stimulatory role in nasal nitric oxide (NO) synthesis. Research on sinusitis and nasal polyps has found low NO levels in exhaled air and linked this to obstruction of the ostium. However, the major source of NO in exhaled air is thought to be the nasal mucosa. In this study, Streptococ...

The aim was to investigate the prevalence of VKORC1 and CYP2C9 genotypes in patients requiring anticoagulant therapy in two different region's populations of Turkey. The recent cohort included 292 patients that needed anticoagulant therapy, and who had a history of deep vein thrombosis and/or pulmonary artery thromboembolism. Genomic DNA was isolat...

The role of genetics in the etiopathogenesis of adolescent idiopathic scoliosis (AIS) is unclear. In this study, we investigated the relationship between AIS and polymorphisms in MATN-1, LCT C/T-13910, and VDR BsmI genes. 53 Turkish adolescents with diagnosed AIS and 54 healthy adult individuals were included in the study. MATN-1, LCT C/T-13910, an...

Warthin's tumor is a benign salivary gland tumor of the parotid gland. Although bilateral or multicentric involvement of the parotid gland is common, extraparotid involvement is seen rarely. The nasopharynx is an unusual region for extraparotid involvement. In this article, we present a 52-year-old male case with a synchronized Warthin's tumor in t...

Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T and 1298 A>C polymorphisms in the MTHFR g...

The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and drugs. The TT genotype of 3435 codon in exon 26 of MDR1 gene causes overexpression of gene activity and effluxes many chemically di...

Hypertension is one of the leading causes of mortality and morbidity in the world, which is influenced by environmental and genetic factors. The methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzymes (ACE) are possible candidate genes that may influence both body fatness and blood pressure (BP). The purpose of this study was...

Prostate cancer is a common malignancy that develops by structural mutation(s) and/or other genetic alterations in specific genes.The G to T transversions in codon 12 and C to T transitions in codon 13 of KRAS proto-oncogene are predominant point mutations that occur in about 20% of different cancers in human. In the current study it was aimed to i...

Objective: 35delG mutation in the GJB2 (gap junction protein beta 2, connexin 26) gene is the most frequent mutation in patients with non-syndromic autosomal recessive deafness. The A1555G mutation in the mitochondrial 12S rRNA is another important genetic alteration, and is associated with aminoglycoside-induced deafness. The aim of this study was...

A sporadic, adult male patient with generalized platyspondyly, large mandible, hypoplastic teeth, strabismus, and low serum cholesterol levels is presented. Some of the patient's features resemble brachyolmia, Spondylo-epiphyseal dysplasia tarda, Kenny-Caffey and Stickler syndromes. Based on literature review, possible diagnoses are discussed. In c...

In the recent studies it is shown that the problems in immunologic and inflammatory processes have been found to be affect pregnancy losses in women suffering from recurrent abortions. Pro-inflammatory cytokines were also reported to play roles in the pathogenesis of the idiopathic recurrent abortions. IL-1ß which is generated by monocytes, macroph...

Lung cancer has the leading mortality rate among all cancers and it is the second most common cause of death following cardiovascular diseases.The aim of the study was determining deleted and/or amplified regions of 64 different loci previously associated with lung cancer, by using Multiplex Ligation-dependent Probe Amplification (MLPA). The most f...

Prostate cancer is the most common cause of cancer deaths in men and is a major health problem worldwide. Methylene tetrahydrofolate reductase (MTHFR) plays an important role for folate metabolism and is also an important source for DNA methylation and DNA synthesis (nucleotide synthesis). The objective of this study was to investigate the relation...

Hemifascial microsomia (Oculoariculovertebral dysplasia) is a common birth defect involving first and second branchial arch derivatives. The incidence is approximately 1 in 6,500 live-birth. The clinical findings are highly variable. Therefore, the diagnosis of hemifascial mikrosomia is very hard in clinics. Craniofascial anomalies (aural, oral and...