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Öğe Acute Ataxia in Childhood Clinical Presentation, Etiology, and Prognosis of Single-Center Experience(Lippincott Williams & Wilkins, 2021) Kirik, Serkan; Aslan, Mahmut; Ozgor, Bilge; Gungor, Serdal; Aslan, NeslihanBackground Acute ataxia is a common reason for presentation to the pediatric emergency department and the pediatric neurology clinic in childhood. Its incidence is between 1/100,000 and 1/500,000. Its most common reason is infections. Objective The aim of this study was to examine the clinical presentation, etiological factors, and prognosis of patients presenting to our regional tertiary pediatric neurology clinic with a diagnosis of acute ataxia. Methods An evaluation was made of patients younger than 18 years diagnosed with acute ataxia in our tertiary pediatric neurology clinic between 2009 and 2016. Results Thirty-nine children were included in the analysis. Sex, age, diagnoses, treatment options, and clinical and radiological findings were evaluated. Acute postinfectious cerebellar ataxia was the most common diagnosis (21/39 [51.2%]). No agent could be identified in viral serological examination in 34 patients (87.2%). Rotavirus was identified in 2 (10.5%) of the acute postinfectious cerebellar ataxia cases, and varicella-zoster virus, herpes simplex virus, and hepatitis A positivities were each identified in 1 case. In 20 (51.2%) of 39 patients, varying treatments were applied according to the primary etiology. Conclusions Acute ataxia is a significant neurological problem in childhood. In this study, Rotavirus was the most common infectious agent. It may be related to vaccination. This study can be considered of value as the most comprehensive study conducted to date on this subject in the eastern region of Turkey.Öğe Determination of aeroallergen prevalence in children aged 1-16 years in the provincial center of Kahramanmaras(2020) Ozkars, Mehmet Yasar; Kirik, SerkanAim: A retrospective study was performed to determine of aeroallergens sensitivity in children.Material and Methods: Medical records of patients aged 1-16 years who presented at the Paediatric Allergy Polyclinic of Kahramanmaraş Children’s Hospital between August 2015 and July 2016. A 10-item allergy test was applied to patients. These tests were positive control (histamine), negative control (saline), grass, weed, house dust mite mixture, peanut, cockroach, alternaria, aspergillus, and cat epithelium and dog hair. The patients were separated into 3 groups as asthma, allergic rhinitis and asthma and allergic rhinitis combined.Results: A total of 1078 patients were administered the allergy tests. A positive result in the allergy skin test was determined in 311 patients. The male/female ratio was 199/112 (64%/36%) in the positive allergy test. Allergic rhinitis was determined in 144 (46.3%). The mean age of the patients was 6.6 ± 3.51 years in the asthma group, 10 ± 3.81 years in the allergic rhinitis group and 9.3 ± 3.89 years in the asthma +allergic rhinitis group. Grass pollen was the most frequently determined aeroallergen in all the patient and age groups. In the pre-school age group, the patients diagnosed with asthma were determined with the most aeroallergen sensitivity. In the patients diagnosed with both asthma and allergic rhinitis, house dust mite mixture was the 2nd most frequently determined aeroallergen in both pre-school and school-age children.Conclusion: In the region of Kahramanmaraş, it was significant that the most commonly determined aeroallergen was mixture 5 grasses in our study.Öğe A novel SCN1A mutation: A case report(Wolters Kluwer Medknow Publications, 2020) Aslan, Mahmut; Ozgor, Bilge; Kirik, Serkan; Gungor, SerdalIntroduction: Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered by fire have been gradually decreased over time, and finally they start to occur without fever at the age of 2-3 years. Along with its initiation of myoclonic seizures in the early period, other types such as atypical absence, versive, and complex partial seizures occur between 1 and 4 years of age. Case Report: A 3-year-old male patient with refractory epilepsy and neuromotor developmental retardation was admitted to our clinic. The patient initially had seizures in the afebrile period, when he was 4 months old, and he had a total of five seizures by the age of 1 year. Neuromotor developmental retardation developed over time in patients with normal neuromotor development in the early stages of his life. His cranial magnetic resonance imaging and metabolic test findings were normal. The SCN1A mutation was investigated, and a new variant mutation of SCN1A, homozygous (p.Y1599FfsFNx0119-c.4796delA) was detected. The patient's family was also screened and this new mutation was detected as heterozygous mutation. The patient had hepatomegaly. The etiology of hepatomegaly was investigated but no cause was found. Conclusion: Variant mutations of DS should be kept in mind and diagnostic genetic testing should be done in patients with neuromotor developmental retardation starting with afebrile seizures. In DS, hepatomegaly is not an expected condition. Maybe this new mutation might have caused hepatomegaly.Öğe A Retrospective Evaluation of Children Diagnosed with Dermatomyositis: A Single-center Study(Galenos Publ House, 2022) Aslan, Mahmut; Gungor, Serdal; Tabel, Yilmaz; Ozgor, Bilge; Kirik, SerkanObjective: Juvenile idiopathic inflammatory myopathies are systemic autoimmune disorders that are characterized by chronic skeletal muscle inflammation, skin rashes and other systemic involvements. We analyzed the clinical findings, laboratory values at admission and treatment protocols and treatment responses of patients who were followed up with a diagnosis of juvenile dermatomyositis (JDM) in a department of pediatric neurology and rheumatology clinics. Methods: Fifteen patients who were referred to the department of pediatric neurology and pediatric rheumatology clinics, diagnosed with JDM between 2010 and 2017 were evaluated retrospectively via their medical records. Results: Of the study sample, 12 (80%) of the patients were female and 3 (20%) were male, and their mean age was 9.26 +/- 3.21 years. The mean time between complaint and diagnosis was 7.8 +/- 6 months, and the patients were followed up for 24.93 +/- 15.28 months after their diagnosis. The mean creatine kinase levels of the patients were 1.354 +/- 840 U/L. Fifteen (100%) of the patients had muscle weakness, 14 (93.3%) had Gottron's papules and 12 (80%) patients had a heliotrope rash. Ten (66.6%) underwent muscle biopsy, 9 (60%) underwent electromyography and 5 (33.3%) patients underwent muscle magnetic resonance imaging. All the patients were treated with corticosteroids and immunosuppressive agents. Conclusion: JDM is a rare inflammatory myopathy observed during childhood. Better responses can be achieved by early diagnosis, intensive immunosuppressive therapy and effective physical therapy.Öğe Severe Complications of Varicella Zoster Virus Infection in Two Children(2018) Güngör, Serdal; Özgör, Bilge; Kirik, Serkan; Aslan, MahmutAbstract: Su çiçeği etkenini oluşturan Varisella Zoster virüsü, çocukluk çağında yaygın olarak görülür. Genellikle iyi huylu bir seyir gösterir ve aşılama ile büyük ölçüde önlenebilir. Nadir olarak merkezi sinir sistemi enfeksiyonlarına neden olabilir. Burada hastalardan birinin mülteci olduğu iki suçiçeği kaynaklı merkezi sinir sistemi enfeksiyonu olgusu bildirdik. Her iki hastamızın da suçiçeği aşısı yapılmamıştı. Hastaların birincisinde su çiçeğine bağlı meningoensefalit gelişmişti. İkincisinde ise meningoesefalit sonrasında trombozis gelişmişti. Bu yazımızda nadir de olsa, suçiçeği enfeksiyonunun merkezi sinir sistemi enfeksiyonu ve buna bağlı ciddi komplikasyonlara neden olabileceğini ve bu yönden çok sayıda mültecinin bulunduğu Türkiye'de suçiçeği aşılamasının önemini vurgulamak istedikÖğe Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene(Walter De Gruyter Gmbh, 2018) Aslan, Mahmut; Kirik, Serkan; Ozgor, Bilge; Gungor, SerdalBackground: Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). Although MLD is the most common form of hereditary leukoencephalopathy, it is still very rare. More than 200 gene mutations have been identified in the ARSA gene. The most frequently identified mutation is the one located on chromosome 22q13.33. In the present study, new mutations are reported in two siblings of different ages and with different clinical presentations. Case presentation: A 9-year-old male patient, suffering from ataxia, attention deficit and perceptual difficulties, was first seen at the age of 7. While the findings of neurological examination and neuroradiological evaluation suggested MLD, the ARSA enzyme levels were analyzed and found to be at a lower limit. Genetic analysis revealed variant homozygous mutations of the ARSA gene at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. In the genetic analysis of his three siblings and parents, a variant heterozygous mutation of the ARSA gene was detected at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. Conclusions: MLD is a rare disease; however, it is likely to find different variant forms in our population, in which the frequency of consanguineous marriages is high. Genetic diagnosis is important in symptomatic cases with enzyme levels within the normal ranges.
