Browsing by Author "Yüksel, D"

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    Clinical significance of lung perfusion defects in children with post-infectious bronchiolitis obliterans
    Yüksel, H; Yilmaz, Ö; Ürk, V; Yüksel, D; Göktan, C; Savas, R; Sayit, E
    Clinical significance of segmental lung perfusion defects in children with bronchiolitis obliterans (BO), have not been reported before. The aim of this study was to evaluate clinical significance of lung perfusion defects in children with BO and to reveal its impact on follow up. The study included 38 children aged 9 to 60 months (17.8 +/- 13.4 months) with BO. Diagnosis was based on persistent respiratory findings beyond six weeks and oligemic-mosaic pattern in lung high resolution computerized tomography. Chest X-ray, 24 hour esophageal pH monitoring, sweat chloride test, immunoglobulin levels and respiratory viral screening were carried out in all. Lung perfusion scintigraphy was carried out at least three months after the first clinical sign of BO. Perfusion defects were scored. Scintigraphy demonstrated perfusion defects in 24 (63.2%) patients but was normal in 14 (36.8%). Number of segments having perfusion defects was 2.9 +/- 2.6. Mean number of exacerbations and days of hospitalization during the first year of follow up were 4.7 +/- 4.4 and 26.9 +/- 29.8 respectively. It was detected that number of perfusion defects correlated significantly with the number of exacerbations and duration of hospitalization (r= 0.66 and p= 0.00). In conclusion, number and extent of segments with perfusion defects in lungs of children with BO are correlated with clinical severity. Therefore, evaluation of lung perfusion status may aid in clinical determination of disease severity and its follow-up.
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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.