Browsing by Author "Kasapcopur, Ozgur"

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    Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
    (2022) Ezgu, Fatih; Alpsoy, Erkan; Bicik Bahcebasi, Zerrin; Kasapcopur, Ozgur; Palamar, Melis; Onay, Huseyin; Ozdemir, Binnaz Handan; Topcuoglu, Mehmet Akif; Tufekcioglu, Omac; 0000-0003-3478-9292; 35236382
    This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.
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    Relationship Between Vitamin B12, Homocysteine and Oxidative Stress in Juvenile Idiopathic Arthritis
    (2016) Bicer, Nihan Cakir; Aksoydan, Emine; Zeybek, Cigdem Aktuglu; Barut, Kenan; Kasapcopur, Ozgur
    Juvenile idiopathic arthritis (JIA), which is one of the rheumatic diseases, is a systemic inflammatory disease characterized by chronic and erosive synovitis that involves peripheral joints. In patients who had been diagnosed with JIA, increasing proinflammatory cytokines, metabolic abnormalities associated with systemic inflammation, may provoke vascular endothelial damage which can cause atherosclerosis. Homocysteine is another metabolite among the factors causing endothelial dysfunction. Homocysteine is an intermediate metabolite which is formed during the conversion of methionine to cysteine and high levels of homocysteine in blood can lead to vascular damage. Dietary folate and vitamin B12 deficiency can cause an increase in blood homocysteine levels. Vitamin B12 is essential for the transfer of methyl group and cell division in humans, but it is also important for the proliferation, maturation and regeneration of the nerve cells. In addition, "functional vitamin B12 deficiency" in which blood vitamin B12 level is in the normal range and without severe clinical symptoms like anemia has also been reported. Studies have showed that vitamin B12 deficiency can lead to oxidative stress without causing significant increase in homocysteine levels by its effects on cytokines, growth factors, nitric oxide metabolism, antioxidant enzymes and producing reactive oxygen species.