Wos Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10754
Browse
5 results
Search Results
Item Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child(2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.Item Severe isolated sulfide oxidase deficiency with a novel mutation(2021) Ergene, Merit; Yarar, Nuriye; Oncel, Elif Perihan; Sezer, Taner; Cavdarli, Busranur; Ecevit, Ismail Zafer; Aydin, Halil Ibrahim; 0000-0002-6126-4048; 34449156; AAK-4837-2021; AHD-1839-2022Background. Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) in the neonatal period and is characterized by progressive severe neurological impairment due to accumulation of toxic metabolites. Case. This report presents a late diagnosed male patient with ISOD manifesting with neonatal-onset seizures, developmental delay, microcephaly, and spastic quadriplegia. Brain magnetic resonance imaging of the patient showed bilateral subcortical multi-cystic encephalomalacia involving bilateral parieto-occipital regions. A novel homozygous c.590_595delAGCCTC in-frame deletion in SUOX gene was identified in the patient, while both parents were heterozygous for that mutation. Conclusion. The mutation identified in our patient causes severe ISOD. Early diagnosis of ISOD is essential for accurate genetic counseling and achieving prenatal diagnosis. Screening for urinary sulfite in patients with neonatal or early infantile onset seizures, developmental delay, microcephaly and cystic encephalomalacia in neuroimaging mimicking HIE helps in early diagnosis.Item Evaluation of cortical thickness and brain volume on 3 Tesla magnetic resonance imaging in children with frontal lobe epilepsy(2020) Rahatli, Feride Kural; Sezer, Taner; Has, Arzu Ceylan; Agildere, Ahmet Muhtesem; 0000-0002-2278-1827; 0000-0003-4223-7017; 0000-0002-4226-4034; 31802343; AAJ-5931-2021; AAB-5802-2020; AAL-9808-2021Background Frontal lobe epilepsy (FLE) is the most common epilepsy syndrome in the pediatric population; however, brain magnetic resonance imaging (MRI) of the children with FLE is frequently normal. We use both cortical thickness and brain volume measurements to report on cortical changes in children with FLE. Our aim was to determine cortical thickness and brain volume changes on 3 Tesla MRI of children with FLE and normal brain magnetic resonance imaging. Methods Twenty-seven children with FLE and 27 healthy controls received brain magnetic resonance imaging. Cortical thickness and regional brain volumes were assessed using three-dimensional volumetric T1-weighted imaging and patients were compared with controls. Results In children with FLE, statistically significant (p < 0.05) cortical thinning were found in the bilateral middle frontal gyrus, bilateral occipitotemporal and medial lingual gyrus, left subcallosal gyrus, left short insular gyrus, and right long insular gyrus. Statistically significant volume reductions in right and left hemisphere cortical white matter, total cortical white matter, bilateral thalamus, bilateral putamen, bilateral globus pallidus, right caudate nucleus, brain stem, and right cerebellar cortex were found. Conclusion Cortical thinning in frontal and extra-frontal lobes and volume loss in a variety of brain regions were found in children with FLE.Item A New Approach to the Prophylaxis of Cyclic Vomiting: Topiramate(2016) Sezer, Taner; Sezer, Oya B.; 0000-0002-2278-1827; 27302967; AAJ-5931-2021Background/Aims The aim of this study was to compare the efficacy and tolerability of topiramate and propranolol in preventing pediatric cyclic vomiting syndrome. Methods A retrospective medical-record review of patients who underwent prophylaxis after receiving a diagnosis of cyclic vomiting syndrome was performed. Patients who completed at least 12 months of treatment were included in the analysis. Responder rate, and adverse, event rates were also calculated from all patients. Response to treatment was assessed as the total number of vomiting attacks per year. Patients in whom the frequency of vomiting attack reduced greater or equal to 50% were defined as responders, and the remaining patients were classified as nonresponders. Results A total of 38 patients who were treated prophylactically with either topiramate (16 patients) or propranolol (22 patients) were identified. Fifty-nine percent of the patients in the propranolol group and 81% of the patients in the topiramate group reported freedom from attacks. A decrease of more than 50% in attacks per year occurred in 23% of patients in the propranolol group and 13% of patients in the topiramate group. The responder rates were 81% for propranolol group and 94% for topiramate group (P = 0.001). Despite minor adverse effects (drowsiness, nervousness, and dizziness) observed in a few patients, the adverse event rates were not significantly different between the 2 groups (P = 0.240). Conclusions The efficacy of topiramate was superior to propranolol for the prophylaxis of pediatric cyclic vomiting syndrome.Item Neonatal cerebral sinovenous thrombosis: Two cases, two different gene polymorphisms and risk factors(2017) Turan, Ozden; Anuk-Ince, Deniz; Olcay, Lale; Sezer, Taner; Gulleroglu, Kaan; Yilmaz-Celik, Zerrin; Ecevit, Ayse; 0000-0002-4369-2110; 0000-0002-2232-8117; 0000-0002-7707-1881; 0000-0002-2278-1827; 0000-0003-1434-3824; 0000-0002-5684-0581; 29168367; I-6746-2016; AAJ-4616-2021; AAJ-2333-2021; AAJ-5931-2021; AAJ-8833-2021; AAK-3548-2021Cerebral sinovenous thrombosis (CSVT) is a rare disease in the neonatal period and also the greatest risk of neonatal mortality and morbidity. In this report, we presented two cases with CSVT and different risk factors. One of these cases had methylenetetrahydrofolate reductase (MTHFR) C677T homozygous polymorphism and the other case had both MTHFR A1298C homozygous polymorphism, plasminogen activator inhibitor-1 (PAI-1) 4G/5G polymorphism and elevated lipoprotein a. Early diagnosis and prompt initiation of therapy of neonatal CSVT may prevent neonatal mortality and poor long-term neurodevelopmental outcomes.