Yazar "Ciftci, Nurdan" seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • Küçük Resim Yok
    Öğe
    Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism
    (Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, Leman
    Objective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54 IHH-associated genes, and to present protein homology modeling and protein stability analyzes of the detected variations.Methods: Clinical and demographic data of 16 patients (eight female), aged between 11.6-17.8 years, from different families were assessed. All patients were followed up for a diagnosis of nIHH, had normal cranial imaging, were without anterior pituitary hormone deficiency other than gonadotropins, had no sex chromosome anomaly, had no additional disease, and underwent genetic analysis with NGS between the years 2008-2021. Rare variants were classified according to the variant interpretation framework of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology. Changes in protein structure caused by variations were modeled using RoseTTAFold and changes in protein stability resulting from variation were analyzed.Results: Half of the 16 had no detectable variation. Three (18.75%) had a homozygous (pathogenic) variant in the GNRHR gene, one (6.25%) had a compound heterozygous [likely pathogenic-variants of uncertain significance (VUS)] variant in PROK2 and four (25%) each had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2. Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.Conclusion: The frequency of variation detection was similar to the literature. Modelling showed that the variant in five different genes, interpreted as VUS according to ACMG, could explain the clinical IHH.
  • Küçük Resim Yok
    Öğe
    Investigation of the Levels of Serum Amyloid A, YKL-40, and Pentraxin-3 in Patients with Familial Mediterranean Fever
    (Wiley, 2016) Ciftci, Sefa; Celik, Huseyin Tugrul; Atukeren, Pinar; Ciftci, Nurdan; Deniz, Mustafa Saygin; Yavuz, Yasemin Coskun; Kazanci, Fatmanur Hacievliyagil
    BackgroundFamilial Mediterranean Fever (FMF) is an autosomal recessive form of recurrent episodes of fever and an autoinflammatory disease characterized by inflammation of the serous membranes. The clinical diagnosis is supported by the laboratory findings. This study investigated the relationship of Serum Amyloid A (SAA), YKL-40, and Pentraxin-3 (PTX-3) with the FMF disease. MethodsAbout 50 patients with FMF were enrolled in this study. Patients were divided into three groups according to disease severity score (mild, moderate, and severe). Thirty-seven healthy individuals were included as the control group. Serum SAA, YKL-40, and PTX-3 concentrations were measured using an ELISA kit. ResultsSerum SAA and YKL-40 levels of FMF patients were significantly higher than in the control (P < 0.001). PTX-3 levels were found to be higher in patients even though there was no significant difference (P = 0.113). Whereas the positive predictive value was 71.9% for cut-off point of SAA, the positive predictive value was 83.3% for cut-off point of YKL-40. Whereas a significant correlation was detected in SAA and PTX-3 with YKL-40 (respectively; P = 0.036, P < 0.001), there was no correlation between the PTX-3 with SAA (P = 0.219). ConclusionsYKL-40 can be used together with SAA to support the diagnosis of FMF and to monitor the severity of the disease. In this study, YKL-40 levels were examined for the first time in FMF patients and further studies are necessary using larger patient samples.