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    Evaluation of Patients with Ichthyosis Followed in a Neonatal Intensive Care Unit: A Single Center Experience
    (Erciyes Univ Sch Medicine, 2023) Deveci, Mehmet Fatih; Ates, Kubra; Alagoz, Meral; Tekedereli, Ibrahim; Gokce, Ismail Kursad; Aslan, Mehmet; Ozdemir, Ramazan
    Objective: Ichthyosis is a keratinization disorder that is characterized by a defective skin barrier and inability to retain water in the skin. Ichthyosis is extremely rare and mostly hereditary, and its manifestations typically involve dryness, scaling, and hyperkeratosis. Moreover, different clinical findings may be observed depending on the concomitant anomalies. Patients with ichthyosis should be protected from infection and hypernatremic dehydration during the neonatal period. After diagnosis, patients with ichthyosis should be screened for concomitant genetic disorders and their families should be referred to genetic counseling. Materials and Methods: In this study, ichthyosis cases observed in our neonatal intensive care unit were retrospectively evaluated. We analyzed the genetic analyses and demographic and clinical data of patients hospitalized in our unit over the past 9 years. Results: Three of the 24 patients evaluated expired during the neonatal period. Genetic analysis was performed on 10 patients, with 8 exhibiting a pathogenic variant. Four of these cases were diagnosed with syndromic ichthyosis, whereas four were nonsyndromic. Conclusion: Patients with ichthyosis need to be diagnosed early and subsequently screened for accompanying anomalies. In managing this disorder, genetic analysis and counseling are as important as proper skin care, hydration, and infection prevention and should not be overlooked.
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    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.