Yazar "Aydogmus, Cigdem" seçeneğine göre listele

Listeleniyor 1 - 3 / 3
  • Küçük Resim Yok
    Öğe
    Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families
    (Springer, 2024) Ozturk, Murat; Ates, Kubra; Esener, Zeynep; Mutlu, Hatice; Aydogmus, Cigdem; Boztug, Kaan; Sarac, Hatice
    Background Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings. Two genes and their associated pathogenic variants have been associated with this syndrome: SKIC3 and SKIC2. Methods and results In this case series, the clinical findings and molecular analysis results of a total of 8 patients from 5 different families who presented with persistent diarrhea and were diagnosed with THES were shared. Pathogenic variants were detected in the SKIC3 gene in 6 of our patients and in the SKIC2 gene in 2 patients. It was planned to compare the clinical findings of our patients with other patients, together with literature data, and to present yet-undefined phenotypic features that may be related to THES. In our case series, in addition to our patients with a novel variant, patient number 2 had a dual phenotype (THES and Spondyloepimetaphyseal dysplasia, sponastrime type) that has not been reported yet. Delay in gross motor skills, mild cognitive impairment, radioulnar synostosis, osteoporosis, nephropathy and cystic lesions (renal and liver) were observed as unreported phenotypic findings. Conclusions We are expanding the clinical and molecular repertoire of the syndrome regarding patients diagnosed with THES. We recommend that the NGS (next-generation sequencing) multigene panel should be used as a diagnostic tool in cases with persistent diarrhea.
  • Küçük Resim
    Öğe
    Investigation of causative genetic defects in patients with primary immunodeficiency by next generation sequencing
    (2021) Erman, Baran; Arikoglu, Tugba; Kont Ozhan, Aylin; Demirhan, Ali; Tokmeci, Nazan; Aydogmus, Cigdem; Aytekin, Caner
    Aim: Inborn errors of immunity are rare diseases presented with a broad range of clinical symptoms. There are more than 450 causative genetic defects and the genetic diagnosis is very important for the patients. Use of next generation sequencing facilitated the molecular and genetic identification of these diseases for last 10 years. We aimed to search disease-causing defects in patients with primary immunodeficiencies (PIDs) by next generation sequencing. Materials and Methods: The study included 12 PID patients without genetic diagnosis. We performed whole exome sequencing for the investigation of genetic defects and Sanger sequencing for variant validation.Results: We found seven different disease-causing mutations in 6 patients with a diagnosis rate of 50%. There were three known pathogenic variants in CYBA, SBDS and RAG2 genes. We identified two additional new causative variants in NCF2 and SBDS genes and two novel mutations in PGM3 and SAMD9L genes.Conclusion: The result revealed that NGS-based methods especially whole exome sequencing can be used efficiently for genetic diagnosis of primary immunodeficiency diseases.
  • Küçük Resim Yok
    Öğe
    Proven Food-Induced Acute Urticaria and Predictive Factors for Definitive Diagnosis in Childhood
    (Karger, 2021) Aydogan, Metin; Topal, Erdem; Uysal, Pinar; Acar, Hazal Cansu; Cavkaytar, Ozlem; Demirkale, Zeynep Hizli; Aydogmus, Cigdem
    Background: Urticaria can be the only sign of a food allergy or can be seen together with other signs and symptoms of a food allergy. Objective: To determine the demographic, etiologic, and clinical features of food-induced acute urticaria in childhood. Methods: Patients suspected of food-induced acute urticaria were included in this prospective cross-sectional multicenter study. Results: Two hundred twenty-nine urticaria cases were included in this study. Seventeen patients who did not meet the inclusion criteria of the study were excluded. Of the 212 included cases, 179 (84.4%) were diagnosed with definitive food-induced acute urticaria. The most common foods causing acute urticaria were cow's milk, hen's eggs, and nuts in 56.4, 35.2, and 19% of cases, respectively. The positive predictive value of a history of milk-induced acute urticaria together with a milk-specific IgE >5 kU/L for cow's milk-induced acute urticaria was 92% (95% CI: 81-96%). A history of cow's milk-induced and/or hen's egg-induced acute urticaria was consistent with a definitive diagnosis of food-induced urticaria (Chen's kappa: 0.664 and 0.627 for milk and eggs, respectively). Urticaria activity scores were higher in patients with food-induced acute urticaria (p = 0.002). Conclusion: Cow's milk, hen's eggs, and nuts were the most common allergens in the etiology of childhood food-induced acute urticaria. Although the urticaria activity score provides guidance for diagnosis, an oral food challenge is often essential for the definitive diagnosis of a patient with a history of food-induced acute urticaria.