Browsing by Author "Kanmaz, S"

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    A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?
    Yilmaza, D; Teber, S; Gueltutan, P; Yildirim, M; Bektas, Ö; Alikiliç, D; Güngör, M; Kara, B; Öncel, I; Dilek, TD; Saltik, S; Kanmaz, S; Yilmaz, S; Tekgül, H; Çavusoglu, D; Karaoglu, P; Yilmaz, Ü; Orak, SA; Güngor, O; Anlar, B
    Objectives: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up.Methods: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings.Results: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up.Conclusion: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment.
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    Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
    Günay, C; Aykol, D; Özsoy, O; Sönmezler, E; Hanci, YS; Kara, B; Sünnetçi, DA; Cine, N; Deniz, A; Özer, T; Ölçülü, CB; Yilmaz, O; Kanmaz, S; Yilmaz, S; Tekgül, H; Yildiz, N; Arslan, EA; Cansu, A; Dündar, NO; Kusgoz, F; Didinmez, E; Gençpinar, P; Uzunhan, TA; Ertürk, B; Gezdirici, A; Ayaz, A; Ölmez, A; Ayanoglu, M; Tosun, A; Topçu, Y; Kiliç, B; Aydin, K; Çaglar, E; Kosvali, OE; Okuyaz, C; Besen, S; Orgun, LT; Erol, I; Yüksel, D; Sezer, A; Atasoy, E; Toprak, U; Güngör, S; Ozgor, B; Karadag, M; Dilber, C; Sahinoglu, B; Yalçin, EU; Hacifazlioglu, NE; Yaramis, A; Edem, P; Tekin, HG; Yilmaz, U; Ünalp, A; Turay, S; Biçer, D; Mert, GG; Çetin, ID; Kirik, S; Öztürk, G; Karal, Y; Sanri, A; Aksoy, A; Polat, M; Özgün, N; Soydemir, D; Uzan, GS; Üstebay, D; Gök, A; Yesilmen, MC; Yis, U; Karakülah, G; Bursali, A; Oktay, Y; Kurul, SH
    Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Method In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage- gated ion channel activity/voltage-gated channel activity, respectively. Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.
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    Optic neuritis in Turkish children and adolescents: A multicenter retrospective study
    Direk, MÇ; Besen, S; Öncel, I; Günbey, C; Özdogan, O; Orgun, LT; Sahin, S; Cansu, A; Yildiz, N; Kanmaz, S; Yilmaz, S; Tekgül, H; Türkdogan, D; Ünver, O; Thomas, GO; Basibüyük, S; Yilmaz, D; Kurt, AN; Gültutan, P; Özsoy, Ö; Yis, U; Kurul, SH; Güngör, S; Özgör, B; Karadag, M; Dündar, NO; Gençpinar, P; Bildik, O; Orak, SA; Kabur, ÇÇ; Kara, B; Karaca, Ö; Canpolat, M; Gümüs, H; Per, H; Yilmaz, Ü; Karaoglu, P; Ersoy, Ö; Tosun, A; Öztürk, SB; Yüksel, D; Atasoy, E; Gücüyener, K; Yildirim, M; Bektas, Ö; Çavusoglu, D; Yarar, Ç; Güngör, O; Mert, GG; Sarigeçili, E; Edizer, S; Çetin, ID; Aydin, S; Diler, B; Özdemir, AA; Erol, I; Okuyaz, Ç; Anlar, B
    Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.Methods: Cases of pediatric ON from 27 centers in Turkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.Results: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 +/- 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as prepubertal and those >= 10 years old as others. The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset >= 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis.Conclusion: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri- or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.