Browsing by Author "Özgün, 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.
The Efficacy of Iron and Piracetam in Breath Holding Spells and Levetiracetam in Anoxic Epileptic Seizures
(Artuklu International Journal of Health Sciences, 2023) Özgün, Nezir; AKDENİZ, Osman; ÇELİK, Muhittin; SARBAY, Hakan; TOKTAŞ, İzzettin
Introduction: In this study, the patients diagnosed with breath holding spell (BHS) or anoxic epileptic seizures and initiated at least one out of iron or piracetam or levetiracetam therapies were evaluated. Material and Methods: We retrospectively evaluated 194 BHS patients. Iron therapy was initiated in case of iron deficiency anemia or case of ferritin values under 12 ng/dl even if there was no anemia. The patients having no iron deficiency anemia, low ferritin and anoxic epileptic seizures were administered piracetam and the patients diagnosed with anoxic epileptic seizures were administered levetiracetam. Results: One hundred and eight patients (55.7%) were male. The mean age was 21.39±12.78 months. Iron therapy was initiated in 87 patients, piracetam to 96, and levetiracetam in 11 patients. Seizure numbers were manifestly decreased in all groups by the end of the first month after treatment concerning pretreatment levels (p<0.05). Conclusions: We determined that the spells were reduced or completely stopped in all groups. Levetiracetam seems to be considerably effective in patients developing anoxic epileptic seizures after BHS.
The role of metabolic diseases in neonatal convulsions
(European Review for Medical and Pharmacological Sciences, 2023) Özgün, Nezir
Objective: The neonatal period is the most vulnerable time for the development of seizures, particularly in the first weeks after birth. These seizures often signify serious malfunction or damage to the immature brain and constitute a neurological emergency, necessitating urgent diagnosis and management. This study was performed to identify the etiology of convulsions during the neonatal period and to determine the rate of congenital metabolic disease. Patients and methods: A total of 107 term and preterm infants 0-28 days old who were treated and followed-up in the neonatal intensive care unit of our hospital between January 2014 and December 2019 were analyzed retrospectively based on data obtained by scanning the hospital information system and patient files. Results: The study population included 54.2% male infants, and 35.5% of infants were born by caesarean section. Birth weight was 3,016 ± 560 (1,300-4,250) g, mean length of gestation was 38 (29-41) weeks, and mean maternal age was 27.4 ± 6.1 (16-42) years. Of the infants, 26 (24.3%) were preterm and 81 (75.7%) were term deliveries. Examination of family history revealed 21 (19.6%) cases with consanguineous parents and 14 (13.1%) cases with a family history of epilepsy. Hypoxic ischemic encephalopathy was the most common etiology of the seizures (34.5%). Burst suppression was detected on amplitude integrated electroencephalography in 21 (56.7%) monitored cases. Although subtle convulsions were most common, myoclonic, clonic, tonic and unclassified convulsions were also observed. The convulsions appeared during the first week of life in 66.3% of cases and during the second week or later in 33.7%. Fourteen (13.1%) patients examined by metabolic screening due to suspected congenital metabolic disease had a different congenital metabolic diagnosis. Conclusions: Although hypoxic ischemic encephalopathy was the most common cause of neonatal convulsions in our study, congenital metabolic diseases with autosomal recessive inheritance were detected at a high rate.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
(Neuropediatrics, 2023) Özgün, Nezir; Günay , Çağatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hiz Kurul, Semra
Background: 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.
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.