Person: ÜNVER, OLCAY
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ÜNVER
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OLCAY
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Publication Open 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, OlcayPhacomatosis 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.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 Open 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.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 Open 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.Publication Open 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.Publication Open 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, MertHereditary 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.Publication Open 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.Publication Open 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.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.