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Öğe An Adolescent Girl with the Recurrent Attacks of Different Type of Thromboses(Galenos Publ House, 2023) Selcuk, Senay Zirhli; Öncül, Yurday; Durmus, Hanim; Sozeri, Betul; Tabel, YilmazIntroduction: Thrombosis is less common in childhood compared to adults and is usually acquired. Here, we present a patient who had recurrent thrombosis in different organs and was diagnosed with lupus secondary antiphospholipid syndrome (APS) when the lupus anticoagulant test was positive in the follow-up, which we treated quickly and effectively considering possible catastrophic prognosis due to kidney involvement in the same week. Case Report: Fifteen-year-old girl who presented to the emergency department with complaints of sensitivity, pain, and swelling in her left leg. Her medical history revealed recurrent thrombosis attacks and development of mental retardation after a seizure at around the age of three, and no underlying disease had been identified to date. Her family history revealed that her aunt had complained of hand swelling after cold exposure. No significant finding was detected in her thrombophilia panel. A thrombophilia panel was conducted, but no significant findings were detected. Due to a positive lupus anticoagulant test, the patient was diagnosed with APS. The diagnosis of systemic lupus erythematosus was also considered secondary to APS after positive results for anti-nuclear antibody (ANA) and dsDNA tests. Due to the recurrent thrombosis attacks and kidney involvement, a possible catastrophic outcome was considered. In addition to the on going heparin, warfarin, and aspirin therapy, high-dose steroids, cyclophosphamide, intravenous immunoglobulin, and 5 sessions of plasmapheresis were administered, and all treatments were met with a positive response. Conclusion: In this case presentation, we wanted to emphasize that despite the difficulties in the differential diagnosis of thrombosis in children and especially the diagnosis of catastrophic antiphospholipid syndrome (CAPS), prompt and effective treatment can be life-saving.Öğe A Novel Mutation in a Patient with Wiskott-Aldrich Syndrome(2020) Öncül, Yurday; Akyay, Arzu; Tekedereli, İbrahimA Novel Mutation in a Patient with Wiskott-Aldrich Syndrome
