Person: TÜRKDOĞAN, DİLŞAD
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TÜRKDOĞAN
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DİLŞAD
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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 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 GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture(2023-01-01) TÜRKDOĞAN, DİLŞAD; Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D. M., et al.Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.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 Open Access Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents(2022-06-01) TÜRKDOĞAN, DİLŞAD; TÜRKDOĞAN D., Mahmudov R.Background: Restless legs syndrome (RLS) and growing pains (GPs) share many common features and are sometimes overlapping diagnoses. The present study aims to investigate the shared features of patients with RLS, classified based on the 2013 diagnostic criteria of International Restless Legs Syndrome Study group and of patients with GPs, diagnosed based on the combined criteria proposed in 2013.Methods: A cross-sectional population study was conducted in 7 Istanbul schools, which were selected randomly. A total of 4565 (56.1% female) children aged 9 to 18 years were included. In the first stage, candidates of RLS and GPs were identified based on 2 separate questionnaires, whose diagnoses were confirmed by a second survey applied to them under parental supervision.Results: Out of 192 children (65.6% female) diagnosed as definite RLS (yearly prevalence: 4.2%), 30 (15.6%) reported bilateral leg muscle pain localized typical regions for GPs, which started <13 years of age in 17 children. An urge to move the legs to relieve unpleasant sensations or pain was present in 39.3% of 140 children (64.3% female) classified as GPs (yearly prevalence: 3.1%). Occurrence of symptoms at rest or when lying down was present in 36.4% of GPs children and relief by gross movements was in 21.4% children. Only 12 patients (9 with definite RLS and 3 with GPs) (0.03% of total cohort) were eligible for overlapping diagnosisConclusion: Although a considerable number of patients with RLS and GPs share some clinical features, a combined phenotype is very rare. (c) 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.Publication Open Access Prevalence of potential essential tremor cases in Turkish adolescents according to The WHIGET classification(2022-05-01) TÜRKDOĞAN, DİLŞAD; Silahli N. Y., TÜRKDOĞAN D.Objective: Essential tremor is the most common movement disorder diagnosed during adolescence. However, there are insufficient data about its prevalence among adolescents. This study aims to determine the prevalence of potential essential tremor cases in Turkish adolescents. Materials and Methods: This cross-sectional study was carried out in Istanbul, Turkey. A total of 5 high schools were visited. In the first step, the authors provided 5559 students (aged 14-18) with clinical information about tremors and essential tremors in their classrooms. After that, a 12-item questionnaire filled by adolescents and parental consent forms were collected. The response rate was 78% (n = 4330). According to the questionnaire answers, adolescents who complained of experiencing tremors in any part of their body were clinically evaluated in the second step of the study. Lastly, a neurological examination to classify essential tremors based on the Washington Heights Inwood Genetic Study of Essential Tremor (1998) diagnostic criteria was conducted by a specialist. Results: The prevalence of tremor in the respondents aged 14-18 (median = 15) years was 1.2 % (n = 52/4330), and the prevalence of essential tremor was 0.41% (n = 18/4330). Male to female ratio for essential tremor was 5 : 1 (male = 15 and female = 1). Essential tremor cases were subclassified as following: 10 (55.5%) definite essential tremor, 3 (16.6%) probable essential tremor, and 5 (27.7%) possible essential tremor. Conclusion: The data support the claim that essential tremor is a prevalent movement disorder in Turkish adolescents.Publication Open Access Developmental and epileptic encephalopathy 82 (DEE82) with novel compound heterozygous mutations of GOT2 gene(2023-01-01) TÜRKDOĞAN, DİLŞAD; Çapan Ö. Y., TÜRKDOĞAN D., Atalay S., Çağlayan H. S.Purpose: Developmental and Epileptic Encephalopathies (DEEs) are rare neurological disorders characterized by early-onset medically resistant epileptic seizures, structural brain malformations, and severe developmental delays. These disorders can arise from mutations in genes involved in vital metabolic pathways, including those within the brain. Recent studies have implicated defects in the mitochondrial malate aspartate shuttle (MAS) as potential contributors to the clinical manifestation of infantile epileptic encephalopathy. Although rare, mutations in MDH1, MDH2, AGC1, or GOT2 genes have been reported in patients exhibiting neurological symptoms such as global developmental delay, epilepsy, and progressive microcephaly. Method: In this study, we employed exome data analysis of a patient diagnosed with DEE, focusing on the screening of 1896 epilepsy-related genes listed in the HPO and ClinVar databases. Sanger sequencing was subsequently conducted to validate and assess the inheritance pattern of the identified variants within the family. The evolutionary conservation scores of the mutated residues were evaluated using the ConSurf Database. Furthermore, the impacts of the causative variations on protein stability were analyzed through I-Mutant and MuPro bioinformatic tools. Structural comparisons between wild-type and mutant proteins were performed using PyMOL, and the physicochemical effects of the mutations were assessed using Project Hope. Results: Exome data analysis unveiled the presence of novel compound heterozygous mutations in the GOT2 gene coding for mitochondrial glutamate aspartate transaminase. Sanger sequencing confirmed the paternal inheritance of the p.Asp257Asn mutation and the maternal inheritance of the p.Arg262Cys mutation. The affected individual exhibited plasma metabolic disturbances, including hyperhomocysteinemia, hyperlactatemia, and reduced levels of methionine and arginine. Detailed bioinformatic analysis indicated that the mutations were located within evolutionarily conserved domains of the enzyme, resulting in disruptions to protein stability and structure. Conclusion: Herein, we describe a case with DEE82 (MIM: # 618721) with pathologic novel biallelic mutations in the GOT2 gene. Early genetic diagnosis of metabolic epilepsies is crucial for long-term neurodevelopmental improvements and seizure control as targeted treatments can be administered based on the affected metabolic pathways.