Person: ÜNVER, OLCAY
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ÜNVER
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OLCAY
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Publication Metadata only How do presentation age and CSF opening pressure level affect long-term prognosis of pseudotumor cerebri syndrome in children? Experience of a single tertiary clinic(Springer Science and Business Media Deutschland GmbH, 2021) DAĞÇINAR, ADNAN; Ozturk G., Turkdogan D., Unver O., Dericioglu V., Aslan B., Dagcinar A.Background: Diagnosis and treatment of pseudotumor cerebri syndrome in children is still a challenge for clinicians. The aim of this study is to reveal the influence of presentation age and CSF opening pressure on long-term prognosis of pseudotumor cerebri and share our clinical data of the very young age (≤ 5-year) group. Method: This retrospective study includes the patients followed by the Marmara University Pediatric Neurology Clinic between years 2012 and 2020 diagnosed with definite, probable, or suggestive pseudotumor cerebri syndrome according to modified Friedman criteria. Patients were classified into three groups according to presentation age: group 1: ≤ 5 years old; group 2: 6–10 years; and group 3 > 10 years old. CSF opening pressure was also categorized into three groups as CSF < 20 cmH20; CSF 20–30 cmH20; and CSF > 30 cmH20. Results: One hundred three patients, 62.1% female (n = 64), were enrolled in the study. Group 1 consisted of 16 patients (60% male), group 2 consisted of 30 patients (63.3% female), and group 3 consisted of 57 patients (66.7% female). The mean CSF opening pressure did not differ between the three age groups in our study (p > 0.05). Treatment response was not correlated with CSF opening pressure. Papilledema presence and level of CSF opening pressure were independent of age (p > 0.05). Conclusions: Age at presentation and CSF opening pressure at diagnosis are not any predictive factors that influence long-term prognosis of pseudotumor cerebri syndrome in children. Evaluation and follow-up of children should be done in personalized approach. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Publication Metadata only The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study(PERGAMON-ELSEVIER SCIENCE LTD, 2016) TÜRKDOĞAN, DİLŞAD; Unver, Olcay; Hacifazlioglu, Nilufer Eldes; Karatoprak, Elif; Gunes, Ayfer Sakarya; Sager, Gunes; Kutlubay, Busra; Sozen, Gulhan; Saltik, Sema; Yilmaz, Kutluhan; Kara, Bulent; Turkdogan, DilsadThe aim of this multicenter study was to screen for late-onset Pompe disease in high-risk children with limb-girdle muscle weakness and nonspecific hyperCKemia using the dried blood spot (DBS) test. Seventy-two children from four pediatric neurology departments in Turkey were enrolled in the study: 37 with limb-girdle muscle weakness and 35 with nonspecific hyperCKemia. Acid alpha-glucosidase (GAA) activity Was measured on DBS by tandem mass spectrometry. Six patients tested positively for Pompe disease. In three patients, one with the limb-girdle muscle weakness and two with nonspecific hyperCKemia, this was confirmed by genetic analysis. The overall frequency of late-onset Pompe disease in the study population was 4.2%. The c.1784C>T mutation found in one patient is a new mutation whereas the c.1655T>C mutation detected in the other two patients is not novel. In conclusion, Pompe disease should be suspected in patients with limb-girdle muscle weakness and nonspecific hyperCKemia. The DBS test is a safe and reliable method of diagnosis but must be confirmed by genetic analysis. In patients with a positive DBS test and negative genetic analysis, tissue assay of GAA should be considered. (C) 2016 Published by Elsevier B.V.Publication Metadata only Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31(SPRINGER, 2015) DAĞÇINAR, ADNAN; Bayri, Yasar; Soylemez, Burcak; Seker, Askin; Yuksel, Sirin; Tanrikulu, Bahattin; Unver, Olcay; Canbolat, Cagri; Sakar, Mustafa; Kardag, Ozen; Yakicier, Cengiz; Dagcinar, Adnan; Ziyal, Ibrahim; Bayrakli, FatihMeningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.Publication Metadata only Akut görme kaybı ile başvuran pediatrik hastalardaki bulgularımız(2022-04-23) TIRAŞ, NİMET ZEYNEP; DERİCİOĞLU, VOLKAN; AKBEYAZ, İSMAİL HAKKI; ÜNVER, OLCAY; Tiraş N. Z. , Dericioğlu V., Akbeyaz I. H. , Ünver O.GİRİŞVE AMAÇ:Görme kaybı ile başvuran pediatrik hastaların demografik verileri, verilen tedavileri ve tanılarını incelemek.YÖNTEM:Marmara Üniversitesi Hastanesi acil servisine 2021 yılı içerisinde optik sinir veya nörolojik kaynaklı görme keskinliği veya görme alanı kaybı ile başvuran hastalar çalışmaya dahil edildi. Diğer oftalmolojik nedenli görme kayıpları çalışmadan dışlandı. Hastaların demografik verileri, manyetik rezonans görüntülemeleri (MRG), en iyi düzeltilmişgörme keskinlikleri (EİDGK) (logMAR), oftalmolojik ve nörolojik muayenelerine ek olarak verilen tedaviler ve sonuç tanıları incelendi.BULGULAR:Çalışmaya 25 hasta dahil edildi. Hastaların ortalama yaşı 13.8±3.2 yıldı ve 15 (%60) hasta kız çocuğuydu. Hastalardan 11’i (%44) unilateral, 14’ü (%56) bilateral görme kaybı ile başvurdu. Hastaların %28’inde (n=7) ağrılı görme kaybı bulunurken, %44’ünde (n=11) eşlik eden ek nörolojik semptomlar vardı.İlk başvuru anında 15 hastada (%60) optik disk kabarıklığı mevcuttu. Beyin MRG değerlendirilmesinde 9 hastada (%36) optik sinirin orbital kısmında kontrast tutulumu izlenirken, ek kraniyal patolojik bulgu 11 hastada (%44) görüldü. Onbeşhastaya (%60) uygulanan lomber ponksiyonda ortalama açılışbasıncı 28.27 ± 23 cmH2O olarak bulundu. Hastaların 14’üne (%56) intravenöz metilprednizolon, 5’ine (%20) asetazolomid ve boşaltıcı LP uygulanırken, 6 hasta (%24) destek tedavisi ile takip edildi. Toplam 41 gözün başvuru anındaki ortalama EİDGK 1.02±1.09 logMAR ve sonuç EİDGK 0.48±0.79 logMAR olarak bulundu (p=0.001). Takiplerde hastaların 8’ine (%32) idiyopatik optik nörit, 5’ine (%20) idiyopatik intrakraniyal hipertansiyon (IIH), 4’üne (%16) multiple skleroz (MS), 3’er hasta (%12) metabolik ve herediter optik nöropati, 1 hastaya (%4) MOG ilişkili optik nörit ve 1 hastaya (%4) iskemik optik nöropati nedeniyle görme kaybı tanısı konuldu.TARTIŞMA VE SONUÇ:Acil servise başvuran pediyatrik görme kayıplarının en sık nedenini idiyopatik optik nörit oluşturmakta ve bunu IIH ve MS takip etmektedir.Publication Metadata only Gomez-Lopez-Hernandez Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia(WILEY, 2015) EKİNCİ, GAZANFER; Saricam, Merve Hatun; Tekin, Burak; Unver, Olcay; Ekinci, Gazanfer; Ergun, TulinGomez-Lopez-Hernandez syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. We report a 16-year-old girl with bilateral parietotemporal alopecia in whom cranial magnetic resonance imaging revealed rhombencephalosynapsis, suggesting a diagnosis of Gomez-Lopez-Hernandez syndrome. Neurologic examination and neuroimaging may be warranted in select patients with parietal alopecia to exclude this uncommon entity.Publication Metadata only Merkezimizde takip edilen Multipl Skleroz tanılı hastaların değerlendirilmesi(2021-02-22) ÖZCAN, SERMİN; YAPICI, ÖZGE; ÜNVER, OLCAY; TÜRKDOĞAN, DİLŞAD; BIYIKLI, ERHAN; AKBEYAZ İ. H., AKYÜZ YÜCEL G., ÖZCAN S., KAYAKAYALI B., ÖZTÜRK G., BIYIKLI E., YAPICI Ö., ALMUS E., ÜNVER O., TÜRKDOĞAN D.