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    Clinical and Laboratory Evaluations of Patients Diagnosed as Having Multisystem Inflammatory Syndrome Associated with Coronavirus Disease 2019 in Children: A Single Center Experience from Konya
    (Georg Thieme Verlag Kg, 2023) Genceli, Mustafa; Akcan, Ozge Metin; Erdogan, Kubra Nur; Kilic, Ahmet Osman; Yazar, Abdullah; Akin, Fatih; Gunes, Muhammed
    Objective Multisystem inflammatory syndrome in children (MIS-C), characterized by fever, inflammation, and multiorgan dysfunction, was newly defined after severe acute respiratory syndrome coronavirus 2 infection. The clinical spectrum of MIS-C can be classified as mild, moderate, and severe. We aimed to evaluate demographics, clinical presentations, laboratory findings, and treatment modalities of patients with MIS-C according to clinical severity.Methods We performed a retrospective study of patients who were diagnosed as having MIS-C between September 2020 and October 2021 in the Necmettin Erbakan University Meram Faculty of Medicine, Turkey.Results A total of 48 patients (24 females and 24 males) with a median age at diagnosis of 10.3 years (range: 42 months-17 years) were enrolled, the most common clinical severity of MIS-C was moderate. The common presentations of patients were fever (97%), nonpurulent conjunctivitis (89.6%), rashes (81.3%), fatigue (81.3%), strawberry tongue (79.2%), and myalgia (68.8%). The most common laboratory findings were lymphopenia (81.2%), thrombocytopenia (54.1%), elevated D-dimer levels (89.5%), C-reactive protein (CRP; 100%), procalcitonin (97%), erythrocyte sedimentation rate (87.5%), ferritin (95.8%), interleukin 6 (IL-6) (86.1%), and probrain natriuretic peptide (pro-BNP) (97%). High levels of CRP, procalcitonin, pro-BNP, and urea were associated with the severity of MIS-C ( p < 0.05). Fifteen of the patients were found to have pulmonary involvement. Ascites were the most common finding on abdominal ultrasonography (11 patients) and were not seen in a mild form of the disease. During the study period, two patients died.Conclusion It is important to make patient-based decisions and apply a stepwise approach in treating patients with MIS-C due to the increased risk of complications and mortality.
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    A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation
    (Galenos Yayincilik, 2022) Altindas, Betul Okur; Zamani, Ayse Gul; Oflaz, Mehmet Burhan; Gunes, Muhammed; Yildirim, Mahmut Selman
    Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor-beta pathway. Here, we report a homozygous case with LDS. A newborn male patient who had congenital diaphragmatic hernia, aortic dilatation and talipes equinovarus was referred to our medical genetics polyclinic. After clinical evaluation, next generation sequencing analysis showed a homozygous c.859C>T pathogenic missense variation [R287W (p.Arg287Trp)] in the SMAD3 gene. It was confirmed that the parents harbor the variant heterozygously. Due to the autosomal dominant inheritance pattern, rarely seen biallelic individuals are expected to have severe clinical conditions. Since there was only one previous report of an individual harboring a homozygous SMAD3 variant in the literature; this case was presented to further enhance our understanding of LDS.