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Öğe A 17-year-old boy who presented with acute mononeuropathy was found to have Type 1 diabetes(Taylor & Francis Ltd, 2022) Ozguc Comlek, Fatma; Karal, Yasemin; Tutunculer, FilizDiabetic neuropathy in children and adolescents with Type 1 diabetes mellitus is rare and is usually subclinical and a complication of the late diabetes period. A 17-year-old boy admitted with a right foot drop of sudden onset was diagnosed with peroneal nerve palsy. He had had osmotic polyuria, polydipsia and weight loss for the past 2 months; his blood glucose was 25 mmol/L (<7.8), HbA1c 15.2% (4.0-5.6) and vitamin B-12 125 pg/ml (180-914). The peroneal nerve palsy resolved within 3 months with blood glucose regulation and B-12 supplementation. Diabetes should be borne in mind in the differential diagnosis of unusual cases of mononeuropathy.Öğe Aquaporin 4 Gene Polymorphism in Children With Febrile Seizure(2019) Carman, Kürşat Bora; Tuncel, Tunç; Çalık, Mustafa; Karal, Yasemin; Işıkay, Sedat; Kocak, Ozan; Özçelik, AysimaFebrile seizure (FS) has a genetic background. The purpose of this study is to search aquaporin-4 (AQP4) gene polymorphisms in children with FS and to explore their effect on the clinical features of FS. This prospective multicenter, case-control included 122 patients with febrile seizure and matched with age, sex 136 healthy control children. A real-time hybridization method was used to analyze and detect the rs1058424 (A/T) and rs3763043 (C/T) single-nucleotide polymorphisms (SNPs). In patient group, the frequencies of rs3763043 (A/T) genotypes AA, AT and TTwere 48.4%, 42.6%, and 9% respectively, compared with 44,9%, 46,3% and 8,8% respectively, in control group. The results showed that the frequencies of rs1058424 (C/T) genotypes CC, CT, and TT 61,5%, 34,4% and 4,1% respectively in children with febrile seizures, compared 64%, 29,4% and 6,6% respectively in controls (p >0.05). The majority of children experienced simple type FS and their first FS. The statistical analysis showed that wild-type genotype was more common in children with simple FS. There was no statistically significant effect of the SNPs on the features of FS, such as family history, number of seizure or duration. The data obtained from molecular analysis show a lack of association between the rs1058424 (A/T) and rs3763043 (C/T) SNPs and FS in children. This is the first research conducted to examine the relationship between AQP4 and FS.Öğe Çocuk nöroloji polikliniğine başvuran serebral palsi ve epilepsi hastalarının ebeveynlerinde depresyon ve ebeveyn gözünden yaşam kalitesi(Trakya Üniversitesi Tıp Fakültesi, 2017) Bıyıklı, Hilmi Volkan; Karal, YaseminÇocukluk çağında görülen nörolojik hastalıklar, bu hastalıkların süreçleri ve tedavileri hem çocukların hem de ebeveynlerin gündelik yaşamını oldukça etkilemektedir. Çocukluk çağı nörolojik hastalıklarından özellikle serebral palsi ve epilepsi dikkati çekmektedir. Yaşam kalitesinin yanısıra ebeveynlerde ve çocuklarda uzun dönemli hastalık bağlantılı etkenler depresif bozukluk ve çeşitli anksiyete ya da uyum bozukluklarına sebep olabilmektedir. Bu çalışmada Trakya Üniversitesi Tıp Fakültesi Çocuk Nöroloji Bilim Dalı tarafından Serebral Palsi veya epilepsi tanılarıyla takip edilen hastalarda yaşam kalitesinin düzeyini belirleme, bunun yanısıra ebeveynlerdeki depresif bozukluk sıklığını tanımlama amaçlanmıştır. Çalışma grubu, 267 epilepsi hastası ve 28 Serebral Palsi ve kontrol grubu 201 sağlıklı çocuktan oluşmuştur. Çalışma ve kontrol grupları arasında cinsiyet, yaş,anne-baba akrabalığı, çoğul gebelik, intauterin büyüme, annede sigara ve alkol kullanımı, gebelik enfeksiyon öyküsü, gebelik esnasında ilaç kullanımı, gebelikte DM ve HT, ailede depresyon öyküsü açısından anlamlı istatiksel bir fark bulunamamıştır. Serebral Palsi grubunda; lise düzeyinde öğrenim gören çocuk sayısı diğer iki gruba göre anlamlı oranda düşük bulunmuşken, özel eğitim gören çocuk sayısı, oksijensiz kalma oranı, yenidoğan nöbet oranı ve Denver testi ile değerlendirilme oranı diğer iki gruba göre anlamlı şekilde yüksek olarak saptanmıştır (p<0,05). Hastaların bakım verenleri depresyon açısından Beck Depresyon Ölçeği ile değerlendirilmiştir. Kontrol grubunun skoru 3,53 ± 1,63, epilepsi grubunun skoru 8,68 ± 3,20 ve SP grubunun skoru 11,92 ± 3,81 idi. Gruplar arasında istatiksel olarak anlamlı farklılık bulunmuştur (p<0,001). SP’li grubun skoru hem kontrol grubuna hem de epilepsi grubuna göre daha yüksek olarak saptanmıştır (p<0,001, p=0,03). Epilepsi, grubunun skoru ise kontrol grubuna göre yüksek olarak bulundu.Yaşam kalitesi skorları ise kontrol grubu, epilepsi ve Serebral Palsi gruplarında sırasıyla 96,34 ± 6,44 , 86,06 ± 11,97 ve 70,74 ± 25.5 idi. Gruplar arasında yaşam kalitesi skoru açısından anlamlı fark saptanmıştır (p<0,001). Serebral Palsi ve epilepsi gruplarındaki skorun kontrol grubuna göre daha düşük olduğu bulunmuştur (p<0,001). Sonuç olarak çalışmamız bu bölgedeki Serebral Palsi ve epilepsi tanılı çocukların yaşam kalitesi ve bakımverenlerin depresif özelliklerini belirlemiştir. Serebral Palsi ve epilepsili çocukları olan ailelerin yaşam kalitesi ve depresyonu düzeltmek açısından desteklenmesi ailelerdeki başetme mekanizmalarını güçlendirecektir. Bu şekilde bir yaklaşım çocukların tedavilerini de olumlu yönden etkileyecektir. Bu yönde yapılacak çalışmalar kronik hastalıklardan olan serebral palsi ve epilepsili çocukların ve ailelerinin yaşadıkları sorunların farkındalığını arttıracak ve yapılacak desteğin artmasına olanak sağlayacaktır.Öğe Commentary(Medknow Publications & Media Pvt Ltd, 2011) Celtik, Coskun; Karal, Yasemin[Abstract Not Available]Öğe Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants(Galenos Publ House, 2021) Demir, Selma; Yalcintepe, Sinem; Atli, Engin; Yalcin, Yelda; Atli, Emine Ikbal; Eker, Damla; Karal, YaseminBackground: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex are responsible for the disease. Therefore, consideration of TSC1/TSC2 pathogenic variations is recommended in the updated diagnostic criteria of Tuberous Sclerosis Complex. Aims: To present the TSC1/TSC2 screening results of a mixed patient population as well as possible new variants in 23 cases from 20 different families who were referred to our Genetic Diseases Diagnosis Center with the signs and symptoms of Tuberous Sclerosis Complex. Study design: Retrospective, cross-sectional study. Methods: Germline TSC1/TSC2 variants were screened in DNA samples extracted from peripheral blood samples of 23 patients from 20 unrelated families using targeted high-throughput sequencing and multiplex ligation-dependent probe amplification methods. The variants identified were classified according to ACMG 2015 guidelines. Results: In total, 5 different pathogenic/likely pathogenic changes have been defined. All these pathogenic/likely pathogenic variants were located in the TSC2 gene. Three of the pathogenic/likely pathogenic variants were novel. Two patients who are twin sisters were found to have TSC2/PKD1 contiguous deletion syndrome. One of the 3 novel variants was a mosaic in-frame deletion. We did not identify any pathogenic variants of the TSC1 gene. Conclusion: The novelty of most of the variants found, including a mosaic likely pathogenic variant, and the presence of a large genomic rearrangement, supports the importance of a comprehensive approach in analyzing TSC1/TSC2 genes. Genetic diagnosis should be performed with caution, considering the possibility of mosaic variants with low allelic fractions.Öğe The evaluation of vitamin K status in children with febrile seizure(2021) Carman, Kürşat Bora; Karal, Yasemin; Mert, Gülen Gül; Ekici, Arzu; Perk, Pelen; Yarar, Çoşkun; Dinleyici, Ener ÇağrıBackground: Febrile seizure is the most common neurological disorder in childhood. The exact pathophysiology of febrile seizures is unknown. Recent studies showed the role of vitamin K in nonhematological and inflammatory disorders. This study aimed to investigate the serum vitamin K levels in children with febrile seizures. Aims: To evaluate vitamin K levels in children with febrile seizures. Study Design: Prospective case-control study. Methods: This multicenter study examined representative populations in 8 different cities in Turkey between April 1, 2018 and April 1, 2019. Blood samples were taken from all children at presentation. Vitamin K1, vitamin K2, tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels were determined by enzyme-linked immunosorbent assay. Results: A total of 155 children were included in the study—84 children with febrile seizures and 71 children in febrile control group. Serum vitamin K1 and vitamin K2 levels were also higher in children with febrile seizures than in the controls. The results of statistical analysis showed that vitamin K1 and vitamin K2 levels were correlated with tumor necrosis factor-alpha, interleukin 1 beta, and interleukin 6 levels. The median vitamin K1 and vitamin K2 levels of children experiencing their first febrile seizure were higher than those in children with recurrent febrile seizures. Type of febrile seizure has no effect on serum vitamin K1 and vitamin K2 levels. Conclusion: In children with febrile seizures, vitamin K levels are higher than those in the control group. These new findings may contribute to elucidating the etiopathogenesis of febrile seizures.Öğe Expression of MicroRNA 146a, 155, 181 and 223 in febrile seizure(Turkish J Pediatrics, 2021) Carman, Kursat Bora; Karal, Yasemin; Mert, Gul Gulen; Ekici, Arzu; Perk, Peren; Arslantas, Didem; Yarar, CoskunBackground. We studied microRNAs (miRNAs) -146a, -155, -181 and -223 expressions and proinflammatory cytokine levels in children with Febrile seizure (FS) and compared to febrile controls. Methods. This prospective multicenter study examined representative populations in eight different cities in Turkey between June 30, 2018 and July 1, 2019. Blood samples were taken from all children at presentation. The real time (RT) polymerase chain reaction (PCR) were used to measure the expressions of microRNAs and tumor necrosis factor alpha (TNF-a), interleukin 1 beta (IL-113), and interleukin 6 (IL-6) levels were studied by enzyme-linked immuno-sorbent assay. Results. The study was conducted with 60 children; 30 children with FS and 30 children in the febrile control group. The seizure was classified as simple FS in 73.3 % and half of the children were experiencing their first FS episode. Although the expression levels of miRNAs-146a, -181a and -155 were higher in febrile seizure patients, only miRNAs 146a level was significantly higher in FS patients. Serum TNF-alpha, IL-1 beta, IL-6 levels were higher in the FS group than the controls. The results of statistical analysis showed that there were correlations within miRNA expressions in children with FS. No differences were found considering miRNA expression between FS type, number of FS experienced. Conclusions. miRNAs-146a, -181a, -155 and -223 may be involved in FS pathogenesis. Altered miRNA expression levels might be an adaptive response to inflammation. New therapeutic approaches might be developed based on miRNA expressions in children with FS.Öğe The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method(Thieme Medical Publ Inc, 2023) Yalcintepe, Sinem; Karal, Yasemin; Demir, Selma; Atli, Emine Ikbal; Atli, Engin; Eker, Damla; Mail, CisemThis study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the SMN1 gene and SMN2 copy numbers were investigated. A total of 133 cases with the preliminary diagnosis of SMA and 113 cases with the suspicion of being an SMA carrier from independent families were analyzed by multiplex ligation-dependent probe amplification method for SMN1 and SMN2 gene copy numbers.SMN1 homozygous deletions were detected in 34 patients (25.5%) of 133 cases with the suspicion of SMA. Cases diagnosed with SMA type I was 41.17% (14/34), 29.4% (10/34) with type II, 26.4% (9/34) with type III, and 2.94% (1/34) with type IV. The SMA carrier rate was 46.01% in 113 cases. In 34 SMA cases, SMN2 copy numbers were: two copies - 28 cases (82.3%), three copies - 6 cases (17.6%). SMN2 homozygous deletions were detected in 15% (17/113) of carrier analysis cases. The consanguinity rate of the parents was 23.5% in SMA diagnosed cases. In this study, we had a 25.5% of SMA diagnosis rate and 46% SMA carrier frequency. The current study also showed the relatively low consanguinity rate of the Thrace region, with 23.5% according to the east of Turkey.Öğe Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome(Lippincott Williams & Wilkins, 2018) Atli, Engin; Gurkan, Hakan; Ulusal, Selma; Karal, Yasemin; Atli, Emine I.; Tozkir, Hilmi[Abstract Not Available]Öğe Identification of Substance Abuse Among Children in a Pediatric Emergency Department(Galenos Yayincilik, 2020) Ciftdemir, Nukhet Aladag; Eren, Tuba; Karal, YaseminAim: Illicit substance use is a worldwide important public health problem with increasing substance abuse rates and decreasing starting age. In this study, our aim was to determine the complaints of the patients in pediatric emergency department (PED) admission in order to increase awareness about substance abuse. Materials and Methods: The data of this cross-sectional study was gathered from those patients admitted to a PED with complaints of substance abuse and patients without a history of substance abuse, but with a positive urine drug test. A screening urine test was used for the qualitative determination of drug substances. If positive, a quantitative liquid chromatography integrated mass/mass spectrometry test was ordered for confirmation. Results: A total of 17 patients presented to the emergency department. The most frequent symptoms were unstable cognitive conditions and tachycardia. Laboratory analyses showed high creatine kinase-MB. Synthetic cannabinoids were the most frequently detected substance in urine screening and confirmation tests. Twenty-nine percent of patients were hospitalized and no mortality was observed. Conclusion: The use of illegal substances has increased in teenagers. Emergency department doctors must be informed and trained regarding substance abuse since patients frequently presented to the emergency department with cognitive malfunctions. Also, it should be remembered that patients may present with symptoms concerning various organ systems.Öğe Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method(Thieme Medical Publ Inc, 2022) Eker, Damla; Gurkan, Hakan; Karal, Yasemin; Yalcintepe, Sinem; Demir, Selma; Atli, Engin; Karasalihoglu, Serap T.Background Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype-phenotype correlation can be established in 15 to 30% of patients, it is difficult to obtain a correlation in most cases. Aims This study was aimed to investigate the genetic etiology in cases of peripheral hypotonia that could not be diagnosed using conventional methods. Methods A total of 18 pediatric patients with peripheral hypotonia were included. They were referred to our genetic disorders diagnosis center from the Pediatric Neurology Department with a prediagnosis of hypotonia. A custom designed multigene panel, including ACTA1 , CCDC78 , DYNC1H1 , GARS , RYR1 , COL6A1 , COL6A2 , COL6A3 , FKRP , FKTN , IGHMBP2 , LMNA , LAMA2 , LARGE1 , MTM1 , NEM , POMGnT1 , POMT1 , POMT2 , and SEPN1 , was used for genetic analysis using next-generation sequencing (NGS). Results In our study, we found 13 variants including pathogenic (two variants in LAMA2) and likely pathogenic variants (three variants in RYR1 and POMGnT1) and variants of uncertain clinical significance (eight variants in RYR1, COL6A3, COL6A2, POMGnT1 and POMT1) in 11 (61%) out of 18 patients. In one of our patients, a homozygous, likely pathogenic c.1649G > A, p.(Ser550Asn) variant was defined in the POMGnT1 gene which was associated with a muscle-eye-brain disease phenotype. Conclusion The contribution of an in-house designed gene panel in the etiology of peripheral hypotonia with a clinical diagnosis was 5.5%. An important contribution with the clinical diagnosis can be made using the targeted multigene panels in larger samples.Öğe Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype(Thieme Medical Publ Inc, 2022) Zhuri, Drenushe; Gurkan, Hakan; Eker, Damla; Karal, Yasemin; Yalcintepe, Sinem; Atli, Engin; Demir, SelmaIntroduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the prognosis of SMA like PLS3 , PFN2 , ZPR1 , CORO1C , GTF2H2 , NRN1 , SERF1A , NCALD , NAIP , and TIA1. Methods Seventeen patients, who came to Trakya University, Faculty of Medicine, Medical Genetics Department, with a preliminary diagnosis of SMA disease, and eight healthy controls were included in this study after multiplex ligation-dependent probe amplification analysis. Gene expression levels were determined by real-time reverse transcription polymerase chain reaction and delta-delta CT method by the isolation of RNA from peripheral blood of patients and controls. Results SERF1A and NAIP genes compared between A group and B + C + D groups, and A group of healthy controls, showed statistically significant differences ( p = 0.037, p = 0.001). Discussion PLS3, NAIP , and NRN1 gene expressions related to SMA disease have been reported before in the literature. In our study, the expression levels of SERF1A , GTF2H2 , NCALD , ZPR1 , TIA1 , PFN2 , and CORO1C genes have been studied for the first time in SMA patients.Öğe The management of elevated intracranial pressure and sinus vein thrombosis associated with mastoiditis: the experience of eighteen patients(Springer, 2022) Havali, Cengiz; Ince, Hulya; Gundogdu, Elif Basaran; Gurkas, Esra; Karal, Yasemin; Ekici, Arzu; Gundogdu, ErcanPurpose Cerebral sinus vein thrombosis (CSVT) associated with acute mastoiditis is a rare complication of acute otitis media. Elevated intracranial pressure (ICP) frequently occurs secondary to CSVT. The study aims to review the 5 years of experience of four medical centres to treat sigmoid sinus thrombosis and elevated intracranial pressure in children. Methods Patients with CSVT that developed secondary mastoiditis from 2016 through 2021 were evaluated in four centres from Turkey. Patients diagnosed with a preceding or synchronous mastoiditis and intracranial sinus thrombosis were included in the study. Magnetic resonance imaging (MRI), magnetic resonance venography (MRV), ICP measurements, ophthalmological examinations, thrombophilia studies and treatments for increased ICP have also been recorded. Results The study group comprises 18 children. Twelve patients were diagnosed with right-sided, six patients with left-sided sinus vein thrombosis. All of the patients had ipsilateral mastoiditis. The most common presenting symptoms were fever, ear pain, headache, visual disorders and vomiting. The most encountered neurologic findings were papilledema, strabismus and sixth cranial nerve palsy. ICP was over 20 cm H2O in eleven patients. Anticoagulant treatment, antibiotics, pressure-lowering lumbar puncture and lumboperitoneal shunt were among the treatment modalities. Conclusion Elevated ICP can damage the brain and optic nerve irreversibly, without treatment. For treating elevation of ICP associated with cerebral sinus thrombosis, pressure-lowering lumbar puncture (LP), acetazolamide therapy, optic nerve sheath fenestration (ONSF) and cerebrospinal fluid (CSF)-shunting procedures are suggested in case of deteriorated vision.Öğe The Results of Hemoglobinopathy Screening in Hatay, the Southern Part of Turkey(Derman Medical Publ, 2016) Oktay, Gonul; Acipayam, Can; Ilhan, Gul; Karal, Yasemin; Sakalli, Gulten; Yilmazoglu, Nurullah; Basun, SunaAim: beta-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey, Because of this reason, either anemic people or couples before marriage are investigated for hemoglobinopathies routinly. In this retrospective study, our aim was to determine the frequency of p-thalassemia and hemoglobinopathies in Hatay, which is located in the southern part of Turkey. Material and Method: In this study, data from 70226 individuals, admitted to Antakya State Hospital Hemoglobinopathy Center in Hatay, both for the reason of anemia and before marriage investigations, were evaluated between January 2006 and October 2012. The blood samples were collected into EDTA-containing tubes and hematological parameters were analyzed using a Sysmex XT-2000i Hematology Analyzer. High performance liquid chromatography technique was used to determine the type of hemoglobin. Results: The frequency of hemoglobinopaties were 5% beta-Thalassemia trait, 6,3% sickle cell trait, 12.9% alpha-thalassaeiria trait? and 4.2 Pb other abnormal hemoglobinopaties variants. We detected 49 cases with homozygot p-thalassaemia, 60 cases with homozygot haemoglobin 5, 33 cases with HbH disease (thalassaemia intermedia) among all. Discussion: The frequency of p-thalassemia trait and other haernoglobinopathies in Hatay is found to be quite high as compared with other provinces in Turkey.Öğe Screening of Glucose-6-Phosphate Dehydrogenase Deficiency in Cord Blood(Derman Medical Publ, 2014) Acipayam, Can; Orhaner, Betul Biner; Karal, YaseminAim: Glucose-6-phosphate dehydrogenase deficiency is an important factor in etiology of pathologic neonatal jaundice. The aim of this study was to indicate the significance of screening glucose-6-phosphate dehydrogenase deficiency in the cord blood of neonates and the frequency of this deficiency in the etiology of neonatal hyperbilirubinemia. Material and Method: The study was performed consecutive 1015 neonates were included. Five hundred fifty six (54.8%) of them were male and 459 (45.2%) were female. The following parameters were recorded: Gender, birth weight, birth height, head circumference and gestational age. The glucose-6-phosphate dehydrogenase level of neonates were measured with quantitative method in cord blood. Also, hemoglobine, hematocrite, red blood cell count and blood group were measured. The following parameters were recorded in cases with jaundice: exchange transfusion, phototherapy, physiologic and pathologic jaundice, peak bilirubin day, maximum bilirubin level, total bilirubin level at the first day of jaundice, beginning time of jaundice. Results: Enzyme deficiency was detected in 133 (13.1%) of neonates and 76 (57%1 of them were male, 57 (43%)were female. Significant difference was detected in low glucose-6-phosphate dehydrogenase enzyme level with jaundice group for total bilirubin level at the first day of jaundice, maximum total bilirubin level and pathologic jaundice (p<0.05). Discussion: The ratio of glucose-6-phosphate dehydrogenase deficiency was found in Edirne in this study and this ratio was higher than other studies conducted in our country. For this reason, glucose-6-phosphate dehydrogenase enzyme level in cord blood of neonates should be measured routinely and high risk neonates should be followed up for hyperbilirubinemia and parents should be informed in our region.Öğe Tip 1 Diabetes Mellituslu Çocuklarda Uyarılmış Potansiyellerin Eş Zamanlı Kan Şekeri, Serum ve Hu cre İ çi Magnezyum Du zeyleri ve Glikozillenmiş Hemoglobin ile İ lişkisi(2020) Karal, Yasemin; Karasalihoğlu, Serap Tevhide; Turgut, Nilda; Öner, Cevat Naci; Tütüncüler, FilizTip I Diabetes Mellitus çocukluk çağının ciddi komplikasyonlar ile seyreden kronik metabolik hastalıklarından biridir. Buçalışmanın amacı Tip I Diabetes Mellituslu çocuklarda erken dönemde santral sinir sistemi tutulumunun uyarılmış potansiyelleraracılığıyla değerlendirilmesi ve metabolik değişikliklerle ilişkisini saptamaktır. Çalışmaya 5-14 yaş arasında 31 Tip I DiabetesMellituslu ve aynı yaş ve cinsiyette 35 sağlam çocuk alındı. Olgulardan 8 saat açlık sonrası HbA1c, kan şekeri, serum ve hücre içimagnezyum düzeyleri için kan örnekleri alındı. Tüm olguların otoskopik muayeneleri, işitme testleri ve uyarılmış potansiyelölçümleri yapıldı. Gruplar metabolik parametreler, diabet süresi ve uyarılmış potansiyeller açısından karşılaştırıldı. Çalışmagrubunun HbA1c ve kan şekeri değerleri kontrol grubuna göre anlamlı düzeyde yüksek, serum Mg değerleri istatistiksel olarakanlamlı oranda düşük saptandı (p<0.001) Diabetik grubun görsel uyarılmış potansiyelleri ve işitsel uyarılmış potansiyellerininanlamlı oranda bozulduğu saptandı (p<0.05). Her iki grup arasında duyusal uyarılmış potansiyel değerlerinde belirgin farklılıkgözlenmedi (p>0.05). Diabetik gruptaki tüm bu etkilenmelerin serum ve hücre içi magnezyumu, eş zamanlı kan şekeri, diabet süresive HbA1c düzeyleri ile ilişkili olduğu bulundu (p<0.05). Çalışmamızda diabette santral sinir sistemi tutulumu uyarılmışpotansiyeller aracılığı ile gösterilebilen en erken bulgu olabileceği saptanmıştır. Bu etkilenmenin nedenleri arasında eş zamanlı kanşekeri ve diabetin süresi kadar glikozillenmiş hemoglobin, serum ve hücre içi magnezyum düzeyleri önemli de önemli yertutmaktadır. Bu nedenle uyarılmış potansiyeller ve kan magnezyum düzeyi ölçümlerinin HbA1c, kan şekeri ölçümlerinde olduğugibi diabetin rutin takip programına alınması yararlı olacaktır.Öğe Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)(Taylor & Francis Inc, 2019) Carman, Kursat Bora; Calik, Mustafa; Karal, Yasemin; Isikay, Sedat; Kocak, Ozan; Ozcelik, Aysima; Yazar, Ahmet SamiBackground: Febrile seizure is the most common childhood neurological disorder, is an important health problem with potential short- and long-term complications, also leading to economic burden and increased parental anxiety about fevers and seizures occurring in their children. There are no routine recommendation to detect etiological causes of FS for neurological perspective, further knowledge about the etiological causes of FS in children will support preventive measures and follow-up strategies. The aim of this study is to evaluate the percentage of respiratory viruses in children with FS. Methods: This prospective multicenter study, entitled Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study) examined representative populations in eight different cities in Turkey between March 1, 2016 and April 1, 2017. Nasopharyngeal swabs were taken from all children at presentation. A respiratory multiplex array was performed to detect for influenza A and B; respiratory syncytial virus A and B; human parainfluenza virus 1-2-3 and 4; human coronavirus 229E and OC43; human rhinovirus; human enterovirus; human adenovirus; human bocavirus; human metapneumovirus. Results: During the study period, at least one virus was detected in 82.7% (144/174) of children with FS. The most frequently detected virus was adenovirus, followed by influenza A and influenza B. Detection of more than one virus was present in 58.3% of the children with FS, and the most common co-existence was the presence of adenovirus and influenza B. In children younger than 12 months, Coronavirus OC43 was the most common, while influenza A was most frequently observed in children older than 48 months (p ). Human bocavirus was common in children who experienced complex FS, while respiratory syncytial virus (RSV) A was more common in children who experienced simple FS. Influenza B virus was the most common virus identified in children who were experiencing their first incidence of FS (p ). Conclusions: This study indicates that respiratory viruses are important in the etiology of FS in children. The results show that antibiotics must be prescribed carefully in children with FS since the majority of cases are related to viral causes. Widespread use of the existing quadrivalent influenza vaccine might be useful for the prevention of FS related to the flu. Further vaccine candidates for potential respiratory pathogens, including RSV, might be helpful for the prevention of FS.