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ÜNVER, OLCAY

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2020 - 202310
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    PublicationOpen Access
    Phacomatosis pigmentokeratotica associated with unilateral toe walking due to short achilles tendon
    (WOLTERS KLUWER MEDKNOW PUBLICATIONS, 2020) SALMAN, ANDAÇ; Salman, Andac; Yucelten, Ayse Deniz; Cakici, Ozlem Akin; Unver, Olcay
    Phacomatosis pigmentokeratotica (PPK) is characterized by the co-occurrence of speckled lentiginous nevus (nevus spilus) and an organoid nevus with or without extracutaneous involvement. The extracutaneous manifestations may vary widely with musculoskeletal, neurologic, ocular, and vascular findings. The PPK is also associated with an increased risk of cutaneous or extracutaneous tumors. Therefore, the patients with PPK should be followed up regularly for possible malignant transformation. Here, we report a 5-year-old boy with PPK associated with toe walking due to short Achilles tendon, which was not previously reported, to our knowledge.
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    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.
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    PublicationOpen Access
    Depression, anxiety, and sleep quality of caregivers of children with spinal muscular atrophy
    (2023-03-01) ERGENEKON, ALMALA PINAR; YILMAZ YEĞİT, CANSU; SELÇUK, MERVE; KARABULUT, ŞEYDA; ÖZTÜRK THOMAS, GÜLTEN; ERDEM ERALP, ELA; ÜNVER, OLCAY; KARADAĞ, BÜLENT TANER; GÖKDEMİR, YASEMİN; ERGENEKON A. P., Gumus Z., YILMAZ YEĞİT C., Cenk M., Gulieva A., Kalyoncu M., SELÇUK M., KARABULUT Ş., ÖZTÜRK G., ERDEM ERALP E., et al.
    BackgroundThe aim of this study was to evaluate the prevalence of anxiety, depression, sleep, and associated factors in caregivers of children with spinal muscular atrophy (SMA). Materials and MethodsBeck Depression Inventory (BDI), the State-Trait Anxiety Inventory-State (STAI-S), the State-Trait Anxiety Inventory-Trait (STAI-T), and Pittsburgh Sleep Quality Index (PSQI) were used to assess the anxiety, depression, and sleep quality of the caregivers of children with SMA. Higher scores indicated worse outcome for all three questionnaires. ResultsFifty-six caregivers of children with SMA were included in the study. Median age of children was 6 (3.2-10) years and mean age of the caregivers was 37.0 +/- 6.5 years. Median scores of the BDI, STAI-S, STAI-T, and PSQI were 12 (7.2-17), 35.5 (31-44), 40.5 (35-48), and 7.0 (5.0-10.0), respectively. There was a positive correlation between BDI and PSQI scores (p < 0.05). There was a negative correlation between the age of the caregivers and PSQI, BDI, STAI-T scores (p = 0.01, r = -0.341; p = 0.006, r = -0.364; p = 0.003, r = -0.395, respectively). There was a negative correlation between the age of the patients and the PSQI scores of the caregivers (p = 0.01, r = -0.33). There was a negative correlation between BDI scores and household income (p = 0.01, r = -0.34). ConclusionCaregivers of children with SMA had elevated depression and anxiety levels and they also had decreased sleep quality. Economic and social support resources are needed to help caregivers of those children.
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    PublicationOpen Access
    Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
    (2022-01-01) ERGENEKON, ALMALA PINAR; ÖZTÜRK THOMAS, GÜLTEN; ÜNVER, OLCAY; TÜRKDOĞAN, DİLŞAD; KARADAĞ, BÜLENT TANER; ERDEM ERALP, ELA; ERGENEKON A. P., YILMAZ YEĞİT C., Cenk M., GÖKDEMİR Y., ERDEM ERALP E., ÖZTÜRK G., ÜNVER O., Coskun O. K., Saygi E. K., TÜRKDOĞAN D., et al.
    Background Respiratory failure is the leading cause of mortality in spinal muscular atrophy type 1 (SMA1) children. The current study aims to evaluate the effect of nusinersen treatment on respiratory outcome of the patients with SMA1. Methods In this retrospective, single-center study, 52 SMA1 patients treated with nusinersen were included in the analysis. Patients were divided into two groups based on their age at the time of their first nusinersen treatment (Group 1: 6 months). Respiratory outcome on the 180th day of treatment is defined as the type of ventilation support (spontaneous breathing, noninvasive ventilation (NIV), and tracheostomized or intubated on invasive mechanical ventilation). Demographic data, respiratory outcome, and Children\"s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were obtained from medical records. Results On the 180th day of treatment, 46 of the 52 (88.4%) children were alive. Prevalence of the mortality was similar in both groups (P = 0.65). The comparison of respiratory outcome in patients between group 1 and group 2 was as follows: spontaneous breathing, 7 (43.7%) versus 4 (13.3%) (P = 0.03); NIV = 16 h/day. There were significant improvements in Children\"s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores of the patients at day 180 in comparison with the baseline (P < 0.001). Conclusions Early initiation of nusinersen treatment in SMA1 patients may alter the disease\"s natural course.
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    PublicationOpen Access
    The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
    (2022-07-01) ÜNVER, OLCAY; ESİM BÜYÜKBAYRAK, ESRA; GÖKDEMİR, YASEMİN; MEMİŞOĞLU, ASLI; Ünver O., Çelik T., Memişoğlu A., Büyükbayrak E., Tülin Şimşek F., Öztürk G., Eser G., Saygı E. K., Gökdemir Y., Aktekin B., et al.
    New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.
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    PublicationOpen Access
    Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease
    (WILEY, 2021-04) ÜNVER, OLCAY; Keller, Natalie; Paketci, Cem; Altmueller, Janine; Fuhrmann, Nico; Wunderlich, Gilbert; Schrank, Bertold; Unver, Olcay; Yilmaz, Sanem; Boostani, Reza; Karimiani, Ehsan Ghayoor; Motameny, Susanne; Thiele, Holger; Nuernberg, Peter; Maroofian, Reza; Yis, Uluc; Wirth, Brunhilde; Karakaya, Mert
    Hereditary lower motor neuron diseases (LMND) other than 5q-spinal muscular atrophy (5q-SMA) can be classified according to affected muscle groups. Proximal and distal forms of non-5q-SMA represent a clinically and genetically heterogeneous spectrum characterized by significant overlaps with axonal forms of Charcot-Marie-Tooth (CMT) disease. A consensus for the best approach to molecular diagnosis needs to be reached, especially in light of continuous novel gene discovery and falling costs of next-generation sequencing (NGS). We performed exome sequencing (ES) in 41 families presenting with non-5q-SMA or axonal CMT, 25 of which had undergone a previous negative neuromuscular disease (NMD) gene panel analysis. The total diagnostic yield of ES was 41%. Diagnostic success in the cohort with a previous NMD-panel analysis was significantly extended by ES, primarily due to novel gene associated-phenotypes and uncharacteristic phenotypic presentations. We recommend early ES for individuals with hereditary LMND presenting uncharacteristic or significantly overlapping features. As mitochondrial dysfunction was the underlying pathomechanism in 47% of the solved individuals, we highlight the sensitivity of the anterior horn cell and peripheral nerve to mitochondrial imbalance as well as the necessity to screen for mitochondrial disorders in individuals presenting predominant lower motor neuron symptoms.
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    PublicationOpen Access
    Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during covid-19 pandemic
    (2022-01-01) TÜRKDOĞAN, DİLŞAD; KARADAĞ SAYGI, NAİME EVRİM; ÜNVER, OLCAY; Ozturk G., Saygi E. K., ÜNVER O., TÜRKDOĞAN D.
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    PublicationOpen Access
    Stress-induced childhood onset neurodegeneration with ataxia and seizures (condsias) presenting with torticollis attacks: phenotypic variability of the same mutation in two turkish patients
    (2022-03-01) ÖZTÜRK THOMAS, GÜLTEN; ÜNVER, OLCAY; AKBEYAZ, İSMAİL HAKKI; EKİNCİ, GAZANFER; TÜRKDOĞAN, DİLŞAD; Ozturk G., Ayaz A., Topcu Y., Akyuz G., ÜNVER O., AKBEYAZ İ. H. , EKİNCİ G., TÜRKDOĞAN D.
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    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.
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    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.