C allele in transforming growth factor-ß1 rs1800471 gene polymorphisms might indicate a protective feature in encapsulating peritoneal sclerosis development.

INTRODUCTION: Peritoneal fibrosis may progress in peritoneal dialysis (PD) patients to a fatal clinical condition called encapsulating peritoneal sclerosis (EPS). Transforming growth factor (TGF)-ß plays a pivotal role in the pathogenesis of peritoneal fibrosis. We aimed to investigate the association among polymorphisms in the gene encoding TGF-ß1, which were -509C/T (rs1800469), +869T/C (rs1982073), and +915G/C (rs1800471) in EPS patients. METHODS: A total of 16 PD patients who were clinically and radiologically diagnosed with EPS were enrolled and 22 age- and gender-matched PD patients were selected as the non-EPS group. RESULTS: G allele frequency at the rs1800471 gene polymorphism was significantly higher in the EPS group than non-EPS group (p = 0.005). Interestingly, the non-EPS group patients had CC or CG polymorphisms. CONCLUSION: C allele in TGF-ß1 rs1800471 gene polymorphisms might indicate a protective feature in EPS development. Knowing the presence of polymorphism may be effective in selecting renal replacement therapy in patients.

The pathway to care of patients with SUD who presented at addiction treatment centers (AMATEM) in Turkey.

AIM: Recent studies have shown that alcohol and drug use in Turkey is rising year on year. In order to prevent and treat substance use disorder (SUD), many Alcohol and Drug Research, Treatment and Training Centres (AMATEM) have been established in Turkey. The purpose of this study was to investigate the pathway to care of patients who presented at AMATEM. METHOD: A total 235 patients with SUD between16-69 age groups who presented at AMATEMs in 2017 were included in this study. A sociodemographic form and a structured self-report questionnaire consisting of 36 items assessing the pathways of care were given to all the patients. Data were analysed with descriptive statistics using SPSS software. RESULTS: The majority of the patients included in the study were single (55%) and male (96%). Patients mostly had a secondary school level of education (51%) and social security (65%). The majority of the patients stated that they used more than one substance (44%), opiates (20%) or alcohol (18%). CONCLUSION: This is the first study evaluating the pathway of care in patients with SUD in Turkey. It was observed that a significant majority of patients with SUD presented to AMATEMs and patients who applied to different health institutions stated that they were mostly informed about SUD and AMATEM. There were also patients with negative attitudes towards AMATEMs and non-medical treatment seeking behavior other than AMATEM. Families, relatives and friends of patients with SUD have an important place in reaching the treatment.

[Relationship Between Alcohol Dependence and Neuropeptide Y (NPY) Gene Promoter Polymorphisms in A Turkish Sample]. / Türkiye Örnekleminde Nöropeptit Y Geni (NPY) Promotor Polimorfizmleri ve Alkol Bagimliligi Arasindaki Iliski.

OBJECTIVE: Neuropeptide Y (NPY) is a protein widely expressed in the central nervous system and involved in diverse physiological processes, such as emotional regulation, nutritional behavior, and stress. In some populations, studies on alcohol dependence (AD) and the NPY gene have found that NPY variations increase alcohol consumption and thus may potentially be associated with AD. In this study, we investigated the relationship between NPY gene promoter polymorphisms and phenotypes related to alcohol use. METHOD: A total of 417 male participants comprising 252 individuals with AD and 165 healthy individuals were included in this study and phenotypic data were collected. Polymerase chain reaction-restriction fragment length polymorphism (PCR/RFLP) and DNA sequencing METHODS were used for genotyping the rs16147 and rs17149106 polymorphisms in the promoter region of the NPY gene. The data of 384 participants were analysed to evaluate the possible relationship between genotypes and the diagnosis of AD, family history of AD, the severity of AD using the Michigan Alcoholism Screening Test (MAST), the age of onset of problematic alcohol use, the average amount of alcohol consumed per day for the last six months and the lifetime maximum alcohol consumption in one day. RESULTS: A significant difference was found between the AD and control groups concerning rs16147 polymorphism genotype distribution (p=0.025). No association with polymorphisms and alcohol-related phenotypes were demonstrated in the AD group. CONCLUSION: To our knowledge, this study shows for the first time in the literature that alcohol dependence is associated with NPY rs16147 polymorphism in the Turkish population.

[Effects of Nitric Oxide Synthase-1 Exon 1f-VNTR Gene Polymorphism on the Clinical Symptoms of Alcohol Dependence,Impulsivity and Comorbid Attention Deficit Hyperactivity Disorder]. / Alkol Bagimlilarinda Nitrik Oksit Sentaz-1 Ekzon 1f-VNTR Gen Polimorfizmi’nin Bagimlilik ile Iliskili Klinik Özellikler, Dürtüsellik ve Eslik Eden Dikkat Eksikligi Hiperaktivite Belirtileri Üzerine Etkisi.

OBJECTIVE: We planned to compare individuals with alcohol dependence (AD) and healthy controls on the frequency of NOS1 exon 1f-VNTR gene polymorphism and to investigate the effects of this polymorphism on the clinical symptoms of alcohol dependence, impulsiveness and comorbid attention deficit hyperactivity disorder (ADHD) symptoms. METHOD: A total of 282 participants consisting of 153 patients and 129 age and gender matched healthy individuals were inluded in the study. All participants were evaluated with Structured Clinical Interview for DSM-IV Axis 1 disorders (SCID-I) and Michigan Alcohol Screening Test (MAST), Barratt Impulsiveness Scale (BIS-11), UPPS Impulsive Behavior Scale, Adult Attention Deficit and Hyperactivity Diagnosis Scale (ADHDS), Family History Research Diagnostic Criteria (FHDRC). The QF-PCR fragment protocols were used for genetic analyses. Allele fragments of ≤176 bp and >176 bp sizes were separated and 3 different genotypes were determined as the SS, SL and LL. Associations of these genotypes with symptoms of AD severity, impulsiveness and comorbid ADHD were investigated. RESULTS: The AD and control groups did not differ significantly on the basis of NOS1 exon 1f-VNTR gene polymorphism. Also, significant correlations between this polymorphism and symptoms of AD severity, impulsiveness and ADHD were not determined. CONCLUSION: Results of our study do not indicatea significant association between the NOS1 exon 1f-VNTR genotypes and AD, subgroups of AD, impulsiveness or comorbid ADHD semptoms.