Yazar "Tekes, Selahattin" seçeneğine göre listele

Listeleniyor 1 - 6 / 6
  • [ X ]
    Öğe
    Association between A/C1166 gene polymorphism of the angiotensin II type 1 receptor and biventricular functions in patients with acute myocardial infarction
    (Japanese Circulation Society, 2006) Ulgen, Mehmet S.; Ozturk, Onder; Yazici, Mehmet; Kayrak, Mehmet; Alan, Sait; Koc, Fatih; Tekes, Selahattin
    Background Although there have been several association studies of angiotensin II type 1 receptor (AT1R, A/C1166) gene polymorphism in clinical endpoints such as myocardial infarction (MI), hypertension, aortic stiffness, and left ventricular mass, the relationship between AT1R polymorphism and biventricular function in acute anterior MI has not been studied before. Methods and Results The study group comprised 132 consecutive patients who were admitted to the coronary care unit with their first acute anterior MI. Systolic and diastolic diameters, volumes, inflow properties, ejection fraction and myocardial performance index of both ventricles were measured. AT1R polymorphism was determined using polymerase chain reaction amplification. Based on A/C1166 polymorphism of ATIR, the patients were classified into 3 groups: group 1, A/A (n=91) genotype, group 2 A/C (n=28), and group 3 C/C (n=13) genotype. When the left ventricular and right ventricular echocardiographic functions were compared, all parameters of the 3 groups were found to be similar. No difference was detected in either the genotype distribution or allele frequencies between the patients and the controls for AT1R. Conclusions The results suggest that A/C1166 polymorphism of AT1R did not influence the risk of either acute MI or biventricular function after anterior MI.
  • [ X ]
    Öğe
    The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population
    (Elsevier Ltd, 2024) Bilgin, Huseyin; Yolbas, Ilyas; Tekes, Selahattin
    Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis. Materials and methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis. All the cases diagnosed with CTX for whom clinical and laboratory findings were evaluated were included in the study. Results: Evaluation was made of 11 patients from 5 different families. The diagnosis was established 25 years after the symptoms first appeared. The diagnosis was made because of bilateral cataracts in 2 patients, tendon xanthomas in 2, and as a result of family screening in 7. Tendon xanthomas were present in 36.3 % of the patients, and there was a history of cataract in 54.5 %. In the current study, mental retardation was determined in 72 % of the patients, psychiatric findings in 36 %, epilepsy in 36 %, pyramidal-extrapyramidal findings in 45 %, and postural tremor in 54 %. In addition, neuropsychiatric symptoms were seen at different rates in patients with different gene alleles. No tendon xanthomas were determined in the cases with c.1263 + 4A>T and c.808C>T mutations. Cataract was determined in all the cases with homozygote c.1263 + 4A>T mutation. Conclusion: In this study, it was determined that the cases were diagnosed late despite the onset of symptoms providing clues for diagnosis at an early age. It was determined that the delay in diagnosis was 25 years. © 2024
  • [ X ]
    Öğe
    Clinical application of whole-exome sequencing analysis in childhood epilepsy
    (Taylor & Francis Ltd, 2024) Gavaz, Meral; Aslan, Elif S.; Tekes, Selahattin
    The swift updates of public databases and advancements in next-generation sequencing (NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics. This study aimed to evaluate the diagnostic efficacy of NGS in pediatric epilepsy patients as a whole and to present the data obtained in the whole exome sequence analysis. We enrolled 40 children with suspected childhood epilepsy in this study. All patients underwent evaluation by a clinical geneticist or pediatric neurologist and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Out of the 40 patients, 12 (30%) received a genetic diagnosis, involving 14 mutations across 13 genes. The cumulative positive diagnostic yield was 30%. Twelve of these patients were identified to have 5 variants previously documented as pathogenic, 9 variants classified as likely pathogenic, and 5 novel variants that have not been reported before. The outcomes indicate that whole-exome sequencing offers great benefits in clinical patient diagnosis, particularly in terms of detecting diagnostic variants. This study underscored the significance of whole exome sequencing (WES) studies, where only a broad gene set is examined in epilepsy patients. This approach has the potential to establish gene-specific phenotypic profiles, particularly by uncovering novel candidate genes in epilepsy patients with well-defined phenotypes. Additionally, conducting validation studies on variants of uncertain clinical significance could enhance the outcome yield.
  • [ X ]
    Öğe
    Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations
    (Bioscientifica Ltd, 2015) Demirbilek, Huseyin; Arya, Ved Bhushan; Nuri, Mehmet; Houghton, Jayne A. L.; Baran, Riza Taner; Akar, Melek; Tekes, Selahattin
    Background: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey. Design and methods: NDM patients presenting to Diyarbakir Children State Hospital between 2010 and 2013, and patients under follow-up with presumed type 1 diabetes mellitus, with onset before 6 months of age were recruited. Molecular genetic analysis was performed. Results: Twenty-two patients (59% males) were diagnosed with NDM (TNDM-5; PNDM-17). Molecular genetic analysis identified a mutation in 20 (95%) patients who had undergone a mutation analysis. In transient neonatal diabetes (TNDM) patients, the genetic cause included chromosome 6q24 abnormalities (n=3), ABCC8 (n=1) and homozygous INS (n=1). In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), and INS (n=1) and heterozygous KCNJ11 (n=2) mutations were identified. Pancreatic exocrine dysfunction was observed in patients with mutations in the distal PTF1A enhancer. Both patients with a KCNJ11 mutation responded to oral sulphonylurea. A variable phenotype was associated with the homozygous c.-331C>A INS mutation, which was identified in both a PNDM and TNDM patient. The annual incidence of PNDM in South-East Anatolian region of Turkey was one in 48 000 live births. Conclusions: Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A were the commonest causes of NDM in our cohort. The high rate of detection of a mutation likely reflects the contribution of new genetic techniques (targeted next-generation sequencing) and increased consanguinity within our cohort.
  • [ X ]
    Öğe
    PRENATAL DIAGNOSTIC RESULTS OF 241 CASES WITH HIGH RISK IN SCREENING TESTS
    (John Wiley & Sons Inc, 2009) Simsek, Selda; Turkyilmaz, Aysegul; Akbas, Halit; Tekes, Selahattin; Balkan, Mahmut; Budak, Turgay
    [Abstract Not Available]
  • [ X ]
    Öğe
    Prevalence of occult HBV infection in haemodialysis patients with chronic HCV
    (W J G Press, 2006) Goral, Vedat; Ozkul, Hamza; Tekes, Selahattin; Sit, Dede; Kadiroglu, Ali Kemal
    AIM: To study the prevalence and clinical effects of occult HBV infection in haemodialysis patients with chronic HCV. METHODS: Fifty chronic hemodialysis patients with negative HbsAg, and positive anti-HCV were included in the study. These patients were divided into two groups: HCV-RNA positive and HCV-RNA negative, based on the results of HCV-RNA PCR. HBV-DNA was studied using the PCR method in both groups. RESULTS: None of the 22 HCV-RNA positive patients and 28 HCV-RNA negative patients revealed HBV-DNA in serum by PCR method. The average age was 47.2 +/- 17.0 in the HCV-RNA positive group and 39.6 +/- 15.6 in the HCV-RNA negative group. CONCLUSION: The prevalence of occult HBV infection is not high in haemodialysis patients with chronic HCV in our region. This result of our study has to be evaluated in consideration of the interaction between HBsAg positivity (8%-10%) and frequency of HBV mutants in our region. (C) 2006 The WJG Press. All rights reserved.