Profile URL: https://hdl.handle.net/20.500.12514/7859
Job Title:Doç. Dr.
Email Address:nezirozgun@hotmail.com
Main Affiliation:Department of Internal Medical Sciences / Dahili Tıp Bilimleri Bölümü
Status: Current Staff
ORCID:
0000-0002-0866-2004
0000-0002-0866-2004Scopus ID:
57190179626
57190179626YÖK Akademik: FB9A3CA35114B6BD
Google Scholar:
YiNzJwgAAAAJ
YiNzJwgAAAAJWeb of Science ID:
IZE-2114-2023
IZE-2114-2023Name Variants:
Ozgun, Nezir Nezir Özgün
15 results
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Article Chronic Respiratory Failure after the First Dose of Nusinersen Treatment: A Case Report(2024) Özbek, Mehmet Nuri; Özgün, Nezir; Orhan, Özhan; Büyükşahin, Halime Nayır; Demirbuğa, Asuman; Talay, Mehmet NurSpinal muscular atrophy (SMA) is a disease characterized by progressive nerve cell loss in the spinal cord and brainstem. It can be fatal if left untreated, particularly in infantile forms. Nusinersen became the first disease-modifying agent to be approved in 2016 for the treatment of all types of 5q-associated SMA, across all age groups. Trials have shown that the drug has an acceptable safety profile and has significantly improved clinical care for patients; however, data on long-term risks and benefits are limited. Respiratory problems following use of the drug are an important potential complication and the mechanisms of action are not fully understood. This study reports on a patient with type 1 SMA who developed chronic respiratory failure after the first dose of nusinersen, a condition not previously reported. Although nusinersen significantly improves patients' quality of life, its long-term or rare side effects are not well understood. Patients should be closely monitored for respiratory side effects, especially after the first dose, and families should be thoroughly informed about potential respiratory complications. How to cite this article: Orhan Ö, Talay MN, Büyükşahin HN, Demirbuğa A, Özbek MN, Özgün N. A case of chronic respiratory failure after the first dose of nusinersen treatment. J Med Dent Invest. 2024; 5: e240341.Other Vaccination Status of Patients with Spinal Muscular Atrophy: A Multicentre Nationwide SMA-VACC Study(2025) Öncel, Eda Karadağ; Baydan, Figen; Güzin, Yiğithan; Yıldız, Edibe Pembegül; Dündar, Nihal Olgaç; Şahin, Aslıhan; Abbasliyev, VugarArticle Citation - WoS: 3Citation - Scopus: 5Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children(Sage Publications inc, 2023-06-16) Herguner, Ozlem M.; Ozgun, Nezir; Aydin, Seren; Sanri, Aslihan; Komur, Mustafa; Aksoya, Ayse; Tuncer, Gokcen Oz; Aksoy, Ayşe; Öz Tunçer, GökçenBackground: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Turkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (+/- 5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (+/- 4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.Conference Object Unraveling the Complex Phenotype of Dual Diagnosis - Cerebellofaciodental Syndrome and Reln-Related Lissencephaly(Springernature, 2024) Esener, Zeynep; Ozgun, Nezir; Yaramis, AhmetArticle Citation - WoS: 2Citation - Scopus: 2Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study(Neuropediatrics, 2023-02-14) Özgün, Nezir; Günay , Çağatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hiz Kurul, Semra; Kara, Bulent; Hanci, Yaren SenaBackground: 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. Methods: 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.Letter An Unexpected Presentation of Pertussis: Pneumomediastinum and Subcutaneous Emphysema(Wiley, 2025-02-01) Orhan, Oezhan; Ozgun, Nezir; Nayir Buyuksahin, Halime; Talay, Mehmet Nur; Gungor, EmreArticle Citation - WoS: 3Citation - Scopus: 4Evaluation of Children and Adolescents With Thalassemia Major in Terms of Osteoporosis: a Single-Centre Experience(Mdpi, 2025-02-26) Orhan, Ozhan; Demir, Hasan; Talay, Mehmet Nur; Ozgun, Nezir; Ozbek, Mehmet NuriBackground/Objectives: This study aimed to determine the frequency of osteoporosis in children and adolescents with thalassemia major (TM) and to identify risk factors for the early development of osteoporosis. Methods: This retrospective study included 27 patients under 18 years of age receiving regular blood transfusions and chelation therapy for TM at our hospital. Bone mineral density (BMD) was measured by dual-energy x-ray absorptiometry, and a lumbar spine Z-score <-2 was considered osteoporotic. Patients with osteoporosis were classified as Group 1 and those without osteoporosis as Group 2. Results: Osteoporosis was detected in 22.2% of the study population. The mean age was 13.83 +/- 2.85 years in Group 1 and 7.95 +/- 5.05 years in Group 2 (p = 0.012). Body weight and height were significantly lower in Group 1 (p = 0.012 and p = 0.004). Ferritin levels were 5306 +/- 1506 ng/mL in Group 1 and 2020 +/- 1205 ng/mL in Group 2, and the difference was significant (p = 0.001). Group 1 had significantly lower Ca and P levels (p < 0.001, p = 0.038). BMD was negatively correlated with ferritin (r = -0.791, p < 0.001) and positively correlated with calcium (r = 0.499, p = 0.008). Conclusions: Osteoporosis is a common condition in TM patients. Patients with risk factors should be followed more closely. These patients should be identified before BMD decreases. To prevent osteoporosis, regular BMD scans should be performed, calcium and vitamin D supplementation should be provided, and physical activity should be encouraged.Article Citation - WoS: 3Citation - Scopus: 3Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review(Sage Publications inc, 2023-08-18) Ozgun, Nezir; Akdeniz, OsmanThere is still no evidence-based guideline and consensus on the treatment Sydenham's Chorea (SC). The first-line medication preference of specialists depends on personal experience and is variable. In this study, we evaluate the treatment results of pediatric patients who were treated with valproic acid (VPA). The medical records of 17 patients diagnosed with SC were reviewed retrospectively. The mean time to clinical improvement was found as approximately 5 days, the mean duration of remission as 13.60 & PLUSMN; 3.94 weeks and the mean duration of medication use was found as 17.96 & PLUSMN; 3.81 weeks. No side effects were observed in any of the patients and relapse occurred in 2 patients. A positive correlation was found between the initial C-reactive protein (CRP) level and the duration of medication use. Until evidence-based guidelines are established, VPA can be used as an effective, safe, and inexpensive first-line treatment option, especially in pediatric patients.Article Not Just for Adults: Transient Global Amnesia Is Rare—But Possible—in Children(Lippincott Williams and Wilkins, 2026) Özgün, NezirTransient global amnesia (TGA) is a well-characterized neurological syndrome primarily affecting adults over the age of 50. It is marked by the sudden onset of anterograde amnesia with repetitive questioning while other cognitive functions remain intact. To date, only a few pediatric cases of TGA have been documented. Here we present the case of a previously healthy 9-year-old girl who developed sudden-onset anterograde amnesia, manifesting with repetitive stereotyped questions and temporal disorientation consistent with the "broken record" phenomenon. The patient's neurological examination and routine laboratory investigations were unremarkable. Brain MRI obtained within 4 hours of symptom onset was reported as normal, although the slice thickness exceeded the optimal parameters for detecting TGA-related lesions. EEG, urine toxicology screening, and cardiologic evaluation were all normal. The amnestic episode resolved spontaneously within 11 hours, and no recurrence was observed over 21 months of follow-up. The patient met all established diagnostic criteria for TGA, with no identifiable underlying etiology. TGA should be considered as a diagnostic option in children presenting with isolated acute amnesia and the characteristic "broken record" phenomenon, particularly when no alternative explanation can be identified after thorough differential diagnostic evaluation.Article Citation - WoS: 1Citation - Scopus: 1Rafiq Syndrome: Old Variant in Man1b1 Gene and Some New Phenotypic Features(Iranian Child Neurology Soc, 2025) Ozgun, Nezir; Guvenc, Merve SakaRafiq syndrome is a congenital disorder of glycosylation type II that develops due to mutations in the Mannosidase Alpha Class 1B Member 1 (MAN1B1) gene encoding alpha 1,2-mannosidase. In the literature, 45 patients have been reported to date. This study presents a patient with some phenotypic traits that differ from previously reported patients with Rafiq syndrome.Since the patient was not diagnosed despite detailed examinations, whole exome sequencing was performed. The patientss' homozygous c.1000 C>T (p.Arg334Cys) pathogenic variant was detected in the MAN1B1 gene (NM_016219.5), which was consistent with Rafiq syndrome. Our patient's clinical findings were mainly similar to those of previously reported patients. However, our patient had feeding difficulty that started to improve after the fifth month and persistent hyperekplexia . Feeding difficulty and hyperekplexia concomitant to MAN1B1 gene mutation are reported for the first time. More extensive case series are needed to understand whether these findings are part of the syndrome or incidental comorbid conditions.