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Öğe BDNF and NGF gene polymorphisms and urine BDNF–NGF levels in children with primary monosymptomatic nocturnal enuresis(Elsevier Ltd, 2019) Ece, Aydın; Coşkun, Salih; Şahin, Cahit; Tan, İlhan; Karabel, Duran; Çim, AbdullahIntroduction: The pathophysiology and genetic influences in nocturnal enuresis have not been fully elucidated. Delayed neuronal maturation has been suggested as a pathogenetic mechanism in primary monosymptomatic nocturnal enuresis (PMNE). Brain-derived neurotrophic factor (BDNF) and nerve growth factor (NGF) are neurotrophins affecting maturation of the nervous system. Objective: The aim of this preliminary study was to investigate BDNF and NGF gene polymorphisms and urine levels of BDNF and NGF in children with PMNE as a first time. Study design: The single-nucleotide polymorphisms of BDNF (rs6265:G > A:Val66Met; rs8192466:C > T:Thr2Ile) and NGF (rs6330:C > T:Ala35Val, rs11466112:C > T:Arg221Trp) were investigated by comparing 104 children with PMNE and 140 healthy control subjects. Children with non-PMNE were excluded. DNA isolation and detection of polymorphisms were performed by real-time polymerase chain reaction. In addition, urine BDNF and NGF levels of 47 PMNE and 29 healthy children were measured by enzyme-linked immunosorbent assay method and normalized to urine creatinine (Cr) concentration for comparisons. Results: There were no differences in genotype and allele frequencies of BDNF rs6265 and NGF rs6330 polymorphisms between patients with PMNE and the control group (P > 0.05). No mutant alleles were found in BDNF rs8192466 and NGF rs11466112 polymorphisms in either group. Children with PMNE had higher urine BDNF/Cr (0.020 ± 0.010 vs 0.010 ± 0.002; P = 0.008) and NGF/Cr ratio (3.01 ± 1.87 pg/mg vs 1.77 ± 0.26 pg/mg; P = 0.002) compared with the control subjects. However, no significant differences were found in BDNF/Cr and NGF/Cr values between GG, GA, and AA genotypes of BDNF rs6265 polymorphism and CC and CT genotypes of NGF rs6330 polymorphism (P > 0.05). Discussion: In this study, no association of BDNF and NGF gene polymorphisms with PMNE was found, and urine neurotrophin concentrations were not directly influenced by investigated polymorphisms. Although, previously increased urine neurotrophin secretion has been found in detrusor overactivity, bladder inflammation, and dysfunctional voiding, this preliminary results also showed an increase in neurotrophins in PMNE. Higher urine neurotrophin levels may be related to delayed and continued neuronal maturation or increased production of neurotrophins in the bladder. The increased urine neurotrophins in PMNE may be an indicator of increased sensory nerve excitability of the bladder, contributing to the development of enuresis. Conclusion: This study showed that investigated neurotrophin gene polymorphisms did not make a significant contribution to the development of PMNE, but urine levels of neurotrophin gene products were higher in PMNE. Owing to the complexity and heterogeneity of genotype–phenotype relationships in enuresis, further studies are needed in PMNE.Öğe Bipolar Bozukluğu Olan Hastalarda Aile Öyküsü(2016) Coşkun, Salih; Keskin, Sıddık; Özdemir, Osman; Atlı, Abdullah; Yılmaz, Ekrem; Özdemir, Pınar Güzel; Mutlu, Elif AktanAmaç: Bu çalışmada bipolar bozukluğu (BB) olan hastalarda aile öyküsünün incelenerek hastalığın genetik geçişinin daha iyi anlaşılması amaçlanmıştır. Yöntem: Çalışmaya 63 BB 1 hastası olan aile alındı. Örneklemi toplam 156 hasta oluşturdu. Çalışmaya alınma ölçütü hastanın ailesinde BB 1 öyküsünün olmasıydı. Hasta olan diğer aile bireylerinin tanıları dosyaları, hastane kayıtları incelenerek ve muayene edilerek doğrulandı. Bulgular: Tüm hastaların (156 hasta) 65'i kadın (%41,6), 91'i (%58,3) erkekti (erkek/kadın oranı: 1,40). Bozukluğun anne tarafından veya baba tarafından geçişi açısından değerlendirildiğinde benzer sonuçlar ortaya çıkıyordu. Toplamda anne tarafından 25, baba tarafından da 25 hasta vardı. Sonuç: Çalışmamızın bulguları akrabalık derecesi ile BB'un kalıtımı arasında önemli bir ilişki bulunduğunu, anne ve baba tarafından hastalığın geçişinin benzer olduğunu desteklemiştir.Öğe Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population(Springer India, 2015) Coşkun, Salih; Kurtgöz, Serkan; Keskin, Ece; Sönmez, Ferah; Bozkurt, GökayFamilial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFVgene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of MEFVgene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.Öğe Konjenital orofasiyal yarıklar: Etyolojisi ve sıklığı(Dicle Üniversitesi Tıp Fakültesi, 2014) Ağaçayak, Kamil Serkan; Ağaçayak, Elif; Coşkun, Salih; Aksoy, OrhanOrofasial yarıklar toplumda ∼1/1000 oranında görülmekle birlikte damak ve dudakta beraber bazen de izole olarak görülmektedirler. Orofasial yarıkların etyolojisinde bir çok faktör rol almaktadır. Ayrıca etyolojisi multipl genetik ve çevresel faktörleri içermektedir. Bu patolojinin nadir formları mendeliyen ve teratojenik orijine sahip multipl konjenital anomaliye sahip sendromların bir komponenti olabilir. Herhangi bir sendromun eşlik etmediği izole orofasial yarıklar daha sık görülmekle birlikte etyolojide genelde çevresel faktörler rol oynamaktadır. Genetik biliminde moleküler ve kantitatif olarak meydana gelen gelişmeler bu patolojinin sendromik ve sendromik olmayan her iki tipinde de genetik mekanizmalarının rol oynuyor olabileceğini düşündürmektedir. Hayvan modellerinde yapılan çalışmalarda bu patolojinin etyolojisine ışık tutmaya çalışmaktadır. Biz bu derlememizle orofasial yarık içeren insan ve hayvan modellerinde genetik faktörleri değerlendirmek ve genetik ile çevresel faktörlerin birbiriyle ilişkisini belirlemeyi amaçladık.Öğe Pompe disease: A case report(Dicle Üniversitesi Tıp Fakültesi, 2015) Çim, Abdullah; Coşkun, Salih; Yılmaz, Ahmet; Onay, HüseyinPompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase (GAA). There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease.
