Browsing by Author "Ozgun, Nezir"

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Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
(Sage Publications inc, 2023) Tuncer, Gokcen Oz; Özgün, Nezir; Sanri, Aslihan; Aydin, Seren; Herguner, Ozlem M.; Ozgun, Nezir; Komur, Mustafa; Aksoya, Ayse
Background: 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.
Effectiveness of Valproic Acid in the Treatment of Sydenham's Chorea and a Literature Review
(Sage Publications inc, 2024) Özgün, Nezir; Akdeniz, Osman
There 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.
Evaluation of Children and Adolescents With Thalassemia Major in Terms of Osteoporosis: a Single-Centre Experience
(Mdpi, 2025) Demir, Hasan; Talay, Mehmet Nur; Talay, Mehmet Nur; Ozgun, Nezir; Ozbek, Mehmet Nuri
Background/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.
Rafiq Syndrome: Old Variant in Man1b1 Gene and Some New Phenotypic Features
(Iranian Child Neurology Soc, 2025) Ozgun, Nezir; Guvenc, Merve Saka
Rafiq 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.
Thirteen-year surveillance results of acute flaccid paralysis cases in Southeast Turkey and the effect of refugee movements on surveillance results
(Natl inst Public Health, 2024) Özgün, Nezir; Ozgun, Nezir; Kubat, Gulnaz; Toktaş, İzzettin; Turan, Birgul; Ozgun, Mert; Toktas, Izzettin; Korukluoglu, Gulay
Objective: Acute flaccid paralysis (AFP) is a major neurological problem. Turkey has accepted over 4 million refugees since 2011 due to the wars in neighbouring countries. In the long term, refugees can have adverse effects on the limited resources of health, sanitation, water supply, foodstuff, and shelter services of host countries, precipitating the transmission and spread of enteroviruses causing AFP. This study examines the 13-year surveillance and incidence of AFP cases in southeast Turkey, and questions possible impact of refugee movements on these parameters, comparing the periods before (2007-2010) and after (2011-2019) 2011, when the refugee movements emerged. Methods: The records of cases reported from southeast part of Turkey with suspected AFP between January 2007 and December 2019 were reviewed retrospectively. Results: Of the patients, 121 (58.5%) were male. Mean age was 80.36 +/- 46.67 months. Eighty-five (41.1%) were aged 60 months or younger. The number of patients under 60 months increased significantly after 2011. Mean incidence was calculated as 0.88 cases/100,000 person years versus 1.58 cases/100,000 person years in the period before and after 2011, respectively. Guillain-Barr & eacute; syndrome (GBS) was the most common cause of AFP in both periods. As of 2011, however, the incidence of acute transverse myelitis increased approximately 4 times and GBS decreased proportionally. Non-polio enteroviruses were the most frequent isolates, detected from 9.1% of stool samples. Conclusion: Although refugee movements appear to may have adverse effects on AFP incidence and surveillance outcomes, larger studies involving the whole country, particularly at places where no refugees settled, are needed to achieve more conclusive evidence.
An Unexpected Presentation of Pertussis: Pneumomediastinum and Subcutaneous Emphysema
(Wiley, 2025) Talay, Mehmet Nur; Talay, Mehmet Nur; Gungor, Emre; Ozgun, Nezir; Nayir Buyuksahin, Halime
Unraveling the Complex Phenotype of Dual Diagnosis - Cerebellofaciodental Syndrome and Reln-Related Lissencephaly
(Springernature, 2024) Esener, Zeynep; Ozgun, Nezir; Yaramis, Ahmet