73 results on '"Yarar C"'
Search Results
2. P79 – 2622: Juvenile-onset mitochondrial protein associated neurodegeneration – Case report.
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Yarar, C., Kocak, O., and Carman, K.B.
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Introduction Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of diseases presenting with a progressive extrapyramidal syndrome and excessive iron deposition in the brain. Mutations in the C19orf12 gene were recently (2009) described as cause of NBIA (called mitochondrial membrane protein-associated neurodegeneration, MPAN). Objective We report a Turkish child diagnosed as MPAN with new mutation. Case report A previously healthy 14-year-old girl presented with progressive slowing of speech and movements, and also frequent drop attacks. Her past history and family history were unremarkable. First neurological examination revealed: hypomimia, dysarthria, echolalia, incoordination and propulsive gait. The initial brain magnetic resonance imaging (MRI) on admission was normal. Because of progressive neurologic detonation a repeat brain MRI was done after 3 years, on T2-weighted images showed low signal intensity in the globus pallidus and substantia nigra bilaterally. Because of clinical and radiological suggestion of iron deposition, the molecular analyses was done and revealed a new homozygous mutation in C19orf12 gene: p.A56LFs*6 (c.166delG) allowing the diagnosis of MPAN. In our case, lack of peripheral neuropathy, cognitive decline and neuropsychiatric symptoms and also normal EMG findings are unusual when compared to the typical course of the MPAN. This features may be related age or clinical outcome of new mutation. As presented case, initial brain MRI findings may be normal, if there is clinical suspicion of NBIA repeated brain MRI may be necessary. To the best of our knowledge, this is the first reported Turkish child who was diagnosed as MPAN. Conclusion MPAN should be considered as a differential diagnosis in patients with juvenile onset speech and gait disturbances, dystonia, parkinsonism and pyramidal signs. Patients have to be examined carefully to detect extra-motor symptoms such as neuropsychological abnormalities or optic neuropathy. Brain MRI should be evaluated for signs of iron accumulation. [ABSTRACT FROM AUTHOR]
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- 2015
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3. P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases.
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Kocak, O., Yarar, C., and Carman, K.B.
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Objectives Encephalocraniocutaneous lipomatosis (ECCL) is rarely congenital neurocutaneous disorder. It's described by Haberland in 1970 and also called Haberland Syndrome. It's characterized by unilateral skin lesions such as lipomas, connective tissue nevi and alopecia with ipsilateral ophthalmological and cerebral malformations with or without psychomotor and mental retardation and early-onset seizure. Methods We present 3 cases (2 boy, 1 girl) with ECCL. All patients socio demographic, clinical and neuroradiological data was collected. Results Case I: A 15-year-old girl, her parents are second degree relatives. At the age 5 months she developed generalized tonic-clonic seizures and which continued until 12-year-old age. She has severe psychomotor retardation: she was walking at 5 years old, speaking at 4 years old. Case II: A 5-year-old boy, he developed seizure at first day of life and became refractory epilepsy. He couldn't walk and unable make sentence. Case III: A 1.3-year-old boy was born with non-consanguineous marriage. He developed seizure at the age of 9-months, his seizure is seconder generalized. He couldn't walk but he crawling. All patients have unilateral left sided alopecia with ipsilateral ocular lesion and the cerebral lesion. All patients were born at term, their past history and family history were unremarkable. Their electroencephalograms showed hemispheric asymmetry. All of the cases had right sided mild to moderate hemiparesis. One patient also has spinal lipoma. Conclusions We describe 3 additional cases with ECCL which is the extremely rare neurocutaneous syndrome. We suggest that patients who have ocular lesion and ipsilateral skin lesion must be examined for ECCL. [ABSTRACT FROM AUTHOR]
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- 2015
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4. ABSTRACT 307.
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Alincak, E., Dinleyici, E.c., Yarar, C., Ekemen, S., Kara, Y., Ozdemir, O., and Sahin, S.
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- 2014
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5. P135 – 1511 Subacute sclerosing panencephalitis: a multinational survey.
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Häusler, M, Yis, U, Pacheva, I, Yarar, C, Altunbasak, S, Korinthenberg, R, Vintan, M, Jocic-Jakubi, B, Craiu, D, Iliescu, C, Hartmann, H, Tarta-Arsene, O, Lukban, M, Takashi, I, and Anlar, B
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- 2013
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6. IAP036 Acute motor axonal neuropathy (AMAN) or unclassified Guillain Barre syndrome?
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Yarar, C., Yakut, A., Erdinc, O., Yildiz, B., and Dinleyici, E.C.
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- 2007
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7. NMP014 Peripheral neuropathy in a child following carbon monoxide poisoning.
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Yarar, C., Yakut, A., and Kutlu, C.
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- 2007
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8. IAP014 Tetanus in an unvaccinated child: oral baclofen treatment for muscle spasms.
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Dinleyici, E.C., Yakut, A., Yarar, C., Ulus, R., and Kirel, B.
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- 2007
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9. CPP015 Hemiparetic cerebral palsy: clinical and neuroimaging features.
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Yakut, A., Yarar, C., and Omeroglu, H.
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- 2007
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10. Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.
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Yıldız N, Serdaroğlu E, Kart PÖ, Besen S, Kanmaz S, Toprak DE, Kilic B, Ersoy O, Gencpinar P, Dundar NO, Okuyaz C, Serdaroglu A, Carman KB, Yarar C, Ekici B, Tatlı B, Erol İ, Aydın K, Tekgül H, and Cansu A
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- Humans, Female, Male, Retrospective Studies, Child, Child, Preschool, Adolescent, Infant, Mutation genetics, Nerve Tissue Proteins genetics, Forkhead Transcription Factors genetics, Protein Serine-Threonine Kinases, Rett Syndrome genetics, Rett Syndrome physiopathology, Electroencephalography methods, Magnetic Resonance Imaging methods, Seizures genetics, Seizures physiopathology, Anticonvulsants therapeutic use, Methyl-CpG-Binding Protein 2 genetics
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Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT)., Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers., Results: In this study, 93.3 % of patients were female, with typical RTT found in 70 % of cases. Genetic etiology revealed MECP2, FoxG1, and CDKL5 in 93.8 %, 2.7 %, and 1.8 % of cases, respectively. Atypical RTT clinics were observed in 50 % of male cases, with the first EEG being normal in atypical RTT cases (p = 0.01). Generalized tonic-clonic and myoclonic epilepsy were the most common seizure semiologies, while absence and focal epilepsy were less prevalent. Valproate, levetiracetam, lamotrigine, and clobazam were the most commonly used antiepileptic drugs, affecting the severity and frequency of seizures (p = 0.015, p=<0.001, p = 0.022, and p=<0.001, respectively). No significant differences were observed in EEG findings. The initiation of anti-seizure medications significantly altered seizure characteristics (Table 4). A ketogenic diet and vagal nerve stimulation (VNS) correlated with a 50 % improvement in cognitive function, while steroid treatment showed a 60 % improvement. Remarkably, seizures were substantially reduced after VNS application., Conclusion: This study underscores the importance of genetic diagnosis in RTT cases with a clinical diagnosis. These preliminary results will be further validated with the inclusion of clinically diagnosed RTT cases in our ongoing study., (Copyright © 2024 Elsevier B.V. All rights reserved.)
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- 2024
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11. Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.
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Özdemir ZC, Yarar C, Öztunalı Ç, Töret E, Çarman KB, and Bör Ö
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- Humans, Male, Child, Adolescent, Brain Neoplasms genetics, Brain Neoplasms pathology, Brain Neoplasms complications, Female, Magnetic Resonance Imaging, Mutation, Diagnosis, Differential, Fanconi Anemia complications, Fanconi Anemia genetics, Fanconi Anemia pathology, Siblings, DNA-Binding Proteins genetics
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The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair-bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings., (© 2024 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.)
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- 2024
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12. Differentiation of peripheral and non-peripheral etiologies in children with vertigo/dizziness: The video-head impulse test and suppression head impulse paradigm.
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Kirbac A, Kaya E, Incesulu SA, Carman KB, Yarar C, Ozen H, Pinarbasli MO, and Gurbuz MK
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- Child, Humans, Vertigo diagnosis, Vertigo etiology, Saccades, Reflex, Vestibulo-Ocular physiology, Head Impulse Test methods, Dizziness
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Objectives: To identify the etiology of vertigo/dizziness and determine the effectiveness of the video-head impulse test (vHIT) and the suppression head impulse paradigm (SHIMP) tests in distinguishing between peripheral and non-peripheral etiologies in children who presented to the otolaryngology department with complaints of vertigo/dizziness., Methods: The vHIT and SHIMP tests were applied to the children. The vestibulo-ocular reflex (VOR) gain and saccade parameters were compared., Results: In 27 children presenting with vertigo/dizziness, the most common etiological factor was inner ear malformation (IEM) (n = 6/27, 22.2%), followed by cochlear implant surgery (11.1%) and migraine (11.1%). Vestibular hypofunction was indicated by the vHIT results at a rate of 60% (9/15 children) and SHIMP results at 73.3% (11/15 children) among the children with a peripheral etiology, while these rates were 8.3% (1/12 children) and 25% (3/12 children), respectively, in the non-peripheral etiology group. SHIMP-VOR and vHIT-VOR gain values had a moderate positive correlation (p = 0.01, r = 0.349). While there were overt/covert saccades in the vHIT, anti-compensatory saccade (ACSs) were not observed in the SHIMP test (p = 0.041). The rates of abnormal vHIT-VOR gain (p = 0.001), over/covert saccades (p = 0.019), abnormal vHIT response (p = 0.014), ACSs (p = 0.001), and abnormal SHIMP response (p = 0.035) were significantly higher in the peripheral etiology group., Conclusions: IEM was the most common etiological cause, and the rate of vestibular hypofunction was higher in these children with peripheral vertigo. vHIT and SHIMP are effective and useful vestibular tests for distinguishing peripheral etiology from non-peripheral etiology in the pediatric population with vertigo/dizziness. These tests can be used together or alone, but the first choice should be the SHIMP test, considering its short application time (approximately 4-5 min) and simplicity., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)
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- 2024
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13. Evaluation of MicroRNAs in Pediatric Epilepsy.
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Çarman KB, Gazeteci Tekin H, Çavuşoğlu D, Yarar C, Kaplan E, Karademir CN, and Arslantaş D
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Objective: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic general- ized epilepsy., Materials and Methods: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 ± 61.83 and 105.46 ± 62.31 months, respectively. Twenty-eight epileptic patients were classi- fied as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain mag- netic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time poly- merase chain reaction., Results: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy., Conclusion: Few researchers have investigated the function of microRNAs in the develop- ment of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.
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- 2023
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14. The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.
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Fogarasi A, Fazzi E, Smorenburg ARP, Mazurkiewicz-Beldzinska M, Dinopoulos A, Pobiecka A, Schröder-van den Nieuwendijk D, Kraus J, Tekgül H, Kraus J, Dinopoulos A, Koutsaki M, Fogarasi A, Baranello G, Bertoli S, Caramaschi E, Cordelli DM, De Amicis R, Fazzi E, Forchielli ML, Guerra A, Lividini A, Marchiò M, Rossi A, Nieuwendijk DSD, Fliciński J, Gurda B, Lemska A, Matheisel A, Mazurkiewicz-Beldzinska M, Niwinska Z, Pawłowicz M, Sawicka A, Steinborn B, Szmuda M, Winczewska-Wiktor A, Zawadzka M, Pobiecka A, Arhan E, Aydin K, Bayram E, Carman KB, Edem P, Ertem D, Goktas ÖA, Gungor S, Haliloglu G, Kansu A, Kömür M, Mutlu A, Kırsaçlıoğlu CT, Okuyaz Ç, Özgör B, Ozturk Y, Sager SG, Sarıgeçili E, Selimoglu MA, Serin HMÖ, Teber ST, Tekgül H, Thomas G, Turkdogan D, Volkan B, Yarar C, and Yilmaz SK
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- Child, Adolescent, Humans, Nutritional Status, Caregivers, Surveys and Questionnaires, Cerebral Palsy, Malnutrition diagnosis
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Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers., Materials and Methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed., Results: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status., Conclusions: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP. Clinical trial registration: ClinicalTrials.gov Identifier: NCT03499288 (https://clinicaltrials.gov/ct2/show/NCT03499288). IMPLICATIONS FOR REHABILITATIONUse of the ESPGHAN recommendations and simple screening tools in daily practice is needed to improve nutritional care for individuals with CP.Attention should be paid to the differences in the perception of nutritional status of individuals with CP between professionals and caregivers to improve appropriate referral for nutritional support.Objective measures rather than the professional's perception need to be used to define the nutritional status of individuals with CP.
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- 2022
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15. Neurological Face of Familial Mediterranean Fever.
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Bektaş PC, Kavas Tufan A, Çetin N, Yarar C, and Carman KB
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Objective: Familial Mediterranean fever is a systemic inflammatory disease characterized by recurrent attacks in the form of fever and inflammation of serous membranes. We aimed to search for neurological signs and symptoms of children with familial Mediterranean fever., Materials and Methods: Medical records database from 2010 to 2020 was screened retrospectively. In total, 625 children with familial Mediterranean fever were included in the study. Neurological symptoms and associated factors were searched., Results: The mean age at onset of familial Mediterranean fever symptoms and time to diagnosis was calculated as 5.12 ± 3.51 years and 7.27 ± 3.9 years, respectively. The neurological symptoms were present in 142 (23.5%) patients. Headache was the most common symptom. During follow-up, different neurologic diseases were diagnosed in 40 familial Mediterranean fever patients and epilepsy was the most frequent disease. The coexistent disease was present in 49.9% of children with familial Mediterranean fever. Juvenile idiopathic arthritis was found to be a risk factor for the neurologic symptom (P < .05). The frequency of neurological symptoms was higher in patients with E148Q mutation (P < .012)., Conclusion: The results of the present study revealed that patients with familial Mediterranean fever can present with various central nervous system manifestations. A multidisciplinary approach must be considered in the treatment of these children.
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- 2022
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16. Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.
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Bozkaya-Yilmaz S, Karadag-Oncel E, Olgac-Dundar N, Gencpinar P, Sarioglu B, Arican P, Ersen A, Yilmaz-Ciftdoğan D, Yuksel MF, Bektas O, Teber S, Kilic B, Calik M, Karaca M, Canpolat M, Kumandas S, Per H, Gumus H, Ozturk S, Okuyaz C, Komur M, Ipek R, Ozbudak P, Arhan E, Ince H, Gurbuz G, Mert GG, Ozcan N, Turker AO, Gazeteci-Tekin H, Kırık S, Günbey C, Çarman KB, Yarar C, and Çavuşoğlu D
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- Child, Cross-Sectional Studies, Diphtheria-Tetanus-Pertussis Vaccine, Humans, Immunization, Immunization Schedule, Infant, Poliovirus Vaccine, Inactivated, Prospective Studies, Vaccination, Cerebral Palsy epidemiology, Haemophilus Vaccines
- Abstract
Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2022
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17. A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis.
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Aydın C, Kıral E, Susam E, Tufan AK, Yarar C, Çetin N, Kocagil S, and Kırel B
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- Adolescent, Central Nervous System Diseases, Chromosome Deletion, Dental Enamel abnormalities, Female, Hepatocyte Nuclear Factor 1-beta genetics, Humans, Kidney Diseases, Cystic, Diabetes Mellitus, Type 2 diagnosis, Diabetes Mellitus, Type 2 genetics, Diabetic Ketoacidosis complications, Diabetic Ketoacidosis diagnosis, Diabetic Ketoacidosis genetics, Hyperuricemia genetics, Intellectual Disability genetics
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Background: Heterozygous intragenic mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B) located on chromosome 17 and microdeletion of 17q12 region (17q12MD) leads to the complete loss of this gene, which causes renal cystic disease, diabetes mellitus (MODY5), hypomagnesemia, hyperuricemia, liver enzyme abnormalities, genital tract abnormalities and exocrine pancreatic insufficiency. In addition, patients with 17q12MD also have facial dysmorphism, neuro-developmental and neuropsychiatric disorders., Case: A 16-year-old girl with obesity and mild facial dysmorphism was admitted to the hospital with symptoms of diabetes that started two days prior to her admission. She was diagnosed with severe diabetic ketoacidosis and treated accordingly. She had been followed up with the diagnoses of multicystic renal disease, hydronephrosis, hepatosteatosis, hypomagnesemia and hyperuricemia since the age of six. She had mild intellectual disability. Her menarche started two months ago. Cranial magnetic resonance imaging revealed mild diffuse cerebral and cerebellar atrophy and a partial empty sella. Her mother had diabetes, hypomagnesemia and mild intellectual disability and her maternal grandfather and uncle had diabetes. Her grandfather also had renal cystic disease. All of them are on oral antidiabetic medication. The genetic analysis of the patient and her mother revealed a loss of 1.6 megabases in chromosome 17q12., Conclusions: MODY5 should be kept in mind in patients with diabetes who present with extra pancreatic findings, especially with renal cystic disease, more over, a genetic analysis including the study of 17q12MD should be carried out in patients who present with additional neuropsychiatric findings. Ketoacidosis can be seen in patients with MODY5. Ketoacidosis and renal anomalies and dysfunction are factors that increase and affect the severity of each other in these patients.
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- 2022
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18. NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly.
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Bas H, Saylisoy S, Cilingir O, Gokalp EE, Kocagil S, Yarar C, Aras BD, and Artan S
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- Humans, Male, Microtubule-Associated Proteins genetics, Hydranencephaly diagnosis, Hydranencephaly genetics, Lissencephaly diagnosis, Lissencephaly genetics, Microcephaly diagnosis, Microcephaly genetics
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NudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20-year-old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1-related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease., (© 2021 Wiley Periodicals LLC.)
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- 2022
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19. Evaluation of micronutrient levels in children with cerebral palsy.
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Carman KB, Aydın K, Kilic Aydin B, Cansu A, Direk MC, Durmus S, Dündar NO, Gencpinar P, Gungor S, Gurkas E, Hur O, Karadag M, Karademir CN, Ozkan Kart P, Okuyaz C, Oz NA, Peduk Y, Per H, Serin MH, Tekgul H, Unay B, Yarar C, and Yildirim GK
- Subjects
- Child, Cross-Sectional Studies, Humans, Micronutrients, Nutritional Status, Zinc, Cerebral Palsy, Malnutrition diagnosis, Malnutrition etiology
- Abstract
Background: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP)., Methods: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated., Results: The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers., Conclusions: Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition., (© 2021 Japan Pediatric Society.)
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- 2022
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20. Evaluation of ketogenic diet therapy in children diagnosed with drug-resistant epilepsy: a single-center experience.
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Yıldırım GK, Yağcı M, Uygur AÇ, Özen H, Yarar C, and Çarman KB
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- Blood Glucose, Child, Preschool, Cholesterol, LDL, Diet, Carbohydrate-Restricted, Female, Humans, Male, Seizures, Treatment Outcome, Diet, Ketogenic adverse effects, Drug Resistant Epilepsy, Epilepsy
- Abstract
Background: We evaluate here the effect of the ketogenic diet (KD) on children with drug-resistant epilepsy (DRE) in terms of clinical effectiveness, anthropometric measurements, and some electroencephalogram (EEG) and biochemical findings., Methods: Included in the study were 18 children (median age 70 months, 61.1% female) who received the classical KD and modified Atkins diet (MAD) for at least one year due to DRE. The patients` demographic and laboratory data; weight, height and body mass index values; EEG and electrocardiographic findings; abdominal ultrasonography findings; and biochemical parameters were recorded at baseline and at 12 months after the initiation of the diet. A reduction of ≥50% in the number of seizures was accepted as a response to KD., Results: Classic KD was chosen for 14 patients (77.8%), and MAD for four patients (22.2%). The response to KD therapy (≥50% reduction) was 55.5% (n = 10) (p = 0.008), and one patient even became seizure-free. By the 12th month of treatment, 10 patients had experienced a reduction of more than 50% in epileptiform discharges, as indicated by EEG findings. There was no difference in seizure reduction between the patients who received classical KD and MAD. A total of 11.1% of the children lost weight during KD treatment. The most common side effect was constipation (n = 10, 55.6%). At the end of one year of treatment, total cholesterol and low density lipoprotein cholesterol (LDL-C) LDL-C levels had increased dramatically, while fasting blood glucose levels had decreased significantly., Conclusions: Our study suggests that KD treatment provides good clinical efficacy in the treatment of pediatric DRE, and can significantly reduce the frequency of epileptic discharges. Also, total cholesterol and LDL-C levels increased significantly, and fasting blood glucose levels decreased significantly compared to the baseline levels.
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- 2022
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21. Niemann-Pick type C disease with a novel intronic mutation: three Turkish cases from the same family.
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Kılıç Yıldırım G, Yarar C, Şeker Yılmaz B, and Ceylaner S
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- Cholesterol, Exons, Humans, Introns genetics, Mutation, Turkey, Niemann-Pick C1 Protein genetics, Niemann-Pick Disease, Type C diagnosis, Niemann-Pick Disease, Type C genetics
- Abstract
Objectives: Niemann-Pick type C (NPC) disease is a rare progressive neurodegenerative condition that is characterized by the accumulation of cholesterol, glycosphingolipids, and sphingosine in lysosomes. Patients have various systemic and neurological findings depending on their age at onset. This disease is caused by the autosomal recessive transmission of mutations in the NPC1 and NPC2 genes; patients have mutations mainly in the NPC1 gene (95%) and the majority of them are point mutations located in the exonic regions., Case Presentation: Here, we presented three cousins with hepatosplenomegaly and progressive neurodegeneration who were diagnosed with visceral-neurodegenerative NPC disease. Their parents were relatives, and they had a history of sibling death with similar complaints. Bone marrow smear showed foamy cells in patient 1. Vertical supranuclear gaze palsy was not present in all cases. Sphingomyelinase (SM) activities were almost normal to exclude NPA or NPB. Filipin staining was performed in patient 2 and showed a massive accumulation of unesterified cholesterol The NPC1 gene analysis of the three patients showed a novel homozygous c.1553+5G>A intronic mutation. cDNA analysis was performed from the patient 3 and both parents. It was observed that exon 9 was completely skipped in the homozygous mutant baby. Both the normal and the exon 9-skipped transcripts have been detected in the parents., Conclusions: When combined with the filipin staining and the patients' clinical outcomes, this mutation is likely to be deleterious. Moreover, cDNA sequencing supports the pathogenicity of this novel variant., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)
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- 2021
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22. Metoclopramide-Induced Acute Dystonia: Data From a Pediatric Emergency Unit.
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Yarar C, Yakut A, Carman KB, Sahin S, Kocak O, Ozkan S, and Bal C
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- Adolescent, Child, Emergency Service, Hospital, Female, Humans, Male, Metoclopramide adverse effects, Retrospective Studies, Dystonia chemically induced, Dystonia diagnosis, Dystonic Disorders
- Abstract
Objectives: Metoclopramide is a commonly used medication in pediatric practice, and dystonia is a common adverse effect of it. The present study aims to evaluate the clinical characteristics of metoclopramide-induced acute dystonic reactions (MIADRs) in pediatric patients admitted to the pediatric emergency unit., Methods: Twenty-eight patients were admitted with MIADRs between June 2004 and April 2016; they were enrolled into the study retrospectively., Results: The study group was composed of 13 females and 15 males with the mean ± SD age of the females higher than that of the males, 12.3 ± 4.5 and 7.8 ± 4.3 years, respectively. Only 9 (32.1%) of the patients were diagnosed as MIADRs at the time of admission. Seventeen patients (60.7%) received over the recommended daily dose of metoclopramide. Dystonia was focal in most of the patients, with the most affected parts consisting of the neck, eyes, and orolingual regions. In 9 of the patients, the dystonia was episodic in nature. Pharmacological treatment was used for 18 patients. No patients died, and none suffered long-term injury related to MIADRs., Conclusions: Metoclopramide administration may be associated with the occurrence of acute dystonic reaction. Metoclopramide-induced acute dystonic reactions may be misdiagnosed, so detailed medical history gathering and a high index of suspicion are warranted. Our data suggest that MIADRs may be dose related and that there may be age- and sex-related differences in the epidemiology of MIADRs., Competing Interests: Disclosure: The authors declared no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2021
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23. Brain Abscess in a Patient with Osteopetrosis: A Rare Complication
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İşeri Nepesov M, Kıral E, Bozan G, Kılıç Ö, Çarman KB, Yarar C, Şaylısoy S, and Dinleyici EÇ
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- Adolescent, Agammaglobulinemia diagnosis, Agammaglobulinemia genetics, Anti-Bacterial Agents therapeutic use, Brain Abscess diagnosis, Brain Abscess immunology, Brain Abscess therapy, Central Nervous System Bacterial Infections diagnosis, Central Nervous System Bacterial Infections immunology, Central Nervous System Bacterial Infections therapy, Drainage, Humans, Male, Osteopetrosis diagnosis, Osteopetrosis genetics, Risk Factors, Streptococcal Infections diagnosis, Streptococcal Infections immunology, Streptococcal Infections therapy, Treatment Outcome, Viridans Streptococci drug effects, Agammaglobulinemia immunology, Brain Abscess microbiology, Central Nervous System Bacterial Infections microbiology, Immunocompromised Host, Osteopetrosis immunology, Streptococcal Infections microbiology, Viridans Streptococci isolation & purification
- Abstract
Brain abscess formation is extremely rare in patients with osteopetrosis. Herein, we report a case of viridans streptococci brain abscess in an immunocompromised child diagnosed with osteopetrosis. The patient presented with a sudden change in mental status and convulsions. Radiological evaluation revealed a temporal lobe brain abscess, and intravenous antibiotherapy was started immediately. The patient underwent abscess drainage, and laboratory investigation of pus material revealed viridans streptococci.
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- 2021
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24. Rituximab Treatment in Acute Disseminated Encephalomyelitis Associated with Salmonella Infection.
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Kacmaz E, Bozan G, Carman KB, Kilic O, Arslanoglu MO, Toprak U, Kavaz Tufan A, Yarar C, and Dinleyici EC
- Abstract
Acute disseminated encephalomyelitis (ADEM) is an inflammatory, demyelinating, and rapidly progressive disorder of the central nervous system. This condition is also known as postinfectious encephalomyelitis, and it is characterized by multifocal lesions in the brain and spinal cord with widespread neurological findings. High doses of intravenous (IV) methylprednisolone, intravenous immunoglobulin (IVIG), and plasma exchange (PLEX) treatments comprise the first-line therapy. There are limited pediatric case reports refractory to standard treatment. Here, we present the case of a 17-year-old girl diagnosed with ADEM associated with Salmonella infection, which was treated with rituximab., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2021 Ebru Kacmaz et al.)
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- 2021
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25. The evaluation of vitamin K status in children with febrile seizure.
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Carman KB, Karal Y, Gülen Mert G, Ekici A, Perk P, Yarar C, Nuhoğlu Ç, Bozan G, Kılıç Ö, Dinleyici M, Şahin S, Atay E, Tokdemir U, Demir B, Dinleyici EÇ, and Study Group DEE
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- Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Female, Humans, Interleukin-1beta analysis, Interleukin-1beta blood, Interleukin-6 analysis, Interleukin-6 blood, Logistic Models, Male, Middle Aged, Prospective Studies, Statistics, Nonparametric, Vitamin K blood, Vitamin K Deficiency physiopathology, Seizures, Febrile blood, Vitamin K analysis, Vitamin K Deficiency complications
- Abstract
Background: 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.
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- 2021
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26. Cerebral sinovenous thrombosis in children: clinical presentation, locations, and acquired and inherited prothrombotic risk factors.
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Kar YD, Özdemir ZC, Çarman KB, Yarar C, Tekin N, and Bör Ö
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- Child, Child, Preschool, Female, Humans, Male, Retrospective Studies, Risk Factors, Intracranial Thrombosis diagnosis, Intracranial Thrombosis epidemiology, Intracranial Thrombosis etiology, Sinus Thrombosis, Intracranial diagnosis, Sinus Thrombosis, Intracranial epidemiology, Sinus Thrombosis, Intracranial etiology, Thrombosis
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Background: Cerebral sinovenous thrombosis (CSVT) in children is a rare and life-threatening cerebrovascular disease. Hence, we evaluated its clinical presentations, inherited and acquired prothrombotic risk factors along with the accompanying diseases, the thrombosis locations as well as the outcomes of anticoagulant therapy in children with CSVT., Methods: The medical records of pediatric CSVT patients treated between January 2011 and September 2018 were analyzed retrospectively., Results: The study included 29 children, 15 boys (51.7%) and 14 girls (48.3%), with the median age being 11 years (range:3 days-17 years). The most commonly presented complaint in neonates was seizures and in the non-neonatal age groups was a headache. Also, at least one acquired and/or inherited thrombophilic risk factor was identified in 89.7% of the patients. The most commonly acquired prothrombotic risk factors along with the accompanying diseases included infections, central venous catheter, and dehydration, while the most commonly inherited thrombophilic risk factors included heterozygous factor-V Leiden mutation and elevated lipoprotein (a). The most common thrombosis location was found to be the transverse sinus. Also, none of the patients died due to the thrombotic episode. Complications included epilepsy in five patients, hydrocephalus in one patient, and intracranial hypertension in another patient., Conclusions: Clinicians need to be well aware of the inherited and acquired prothrombotic risk factors in CSVT. It should also be kept in mind that at-risk patients may also present with nonspecific signs and symptoms with no apparent neurological manifestation. The risk of acute complications and long-term sequelae can be substantially reduced if diagnosed early and initiated with appropriate treatment at the early stages.
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- 2021
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27. Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.
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Ünver O, Türkdoğan D, Güler S, Kipoğlu O, Güngör M, Paketçi C, Çarman KB, Öztürk G, Genç HM, Özkan M, Dündar NO, Işık U, Karatoprak E, Kılıç B, Özkale M, Bayram E, Yarar C, Sözen HG, Sağer G, Güneş AS, Kahraman Koytak P, Karadağ Saygı E, Ekinci G, Saltık S, Çalışkan M, Kara B, Yiş U, and Aydınlı N
- Subjects
- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Prognosis, Retrospective Studies, Turkey epidemiology, Central Nervous System Viral Diseases diagnosis, Central Nervous System Viral Diseases epidemiology, Central Nervous System Viral Diseases pathology, Disease Outbreaks, Myelitis diagnosis, Myelitis epidemiology, Myelitis pathology, Neuromuscular Diseases diagnosis, Neuromuscular Diseases epidemiology, Neuromuscular Diseases pathology
- Abstract
Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis., Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed., Results: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis., Conclusion: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition., Competing Interests: Declaration of competing interest The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)
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- 2021
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28. Expression of MicroRNA 146a, 155, 181 and 223 in febrile seizure.
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Çarman KB, Karal Y, Gül Mert G, Ekici A, Perk P, Arslantaş D, Yarar C, and Dinleyici EÇ
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- Child, Humans, Interleukin-6, Prospective Studies, Tumor Necrosis Factor-alpha, MicroRNAs, Seizures, Febrile genetics
- Abstract
Background: 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-α), interleukin 1 beta (IL-1β), 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-α, IL-1β, 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.
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- 2021
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29. Screening for functional gastrointestinal disorders in children with epilepsy.
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Aydemir Y, Carman KB, and Yarar C
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- Adolescent, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Irritable Bowel Syndrome diagnosis, Irritable Bowel Syndrome epidemiology, Male, Prevalence, Vomiting diagnosis, Vomiting epidemiology, Epilepsy diagnosis, Epilepsy epidemiology, Gastrointestinal Diseases diagnosis, Gastrointestinal Diseases epidemiology, Mass Screening methods
- Abstract
Background and Aim: We aimed to examine the frequency of functional gastrointestinal disorders (FGIDs) among pediatric patients with epilepsy and the association of FGIDs with epilepsy characteristics., Material and Methods: Patients with epilepsy aged between 4 and 18 years old were enrolled. Age- and sex-matched healthy children were taken as the control group. Children with cerebral palsy, history of abdominal surgery, gastrointestinal disorders, medication affecting gastrointestinal system motility, recent gastrointestinal infection, and those on the ketogenic diet were excluded from the study. Rome IV symptom-based criteria were used to screen FGIDs. Frequencies of FGIDs were compared between patients with epilepsy and controls. Additionally, epilepsy type, seizure frequency, and antiepileptic drug (AED) requirements were also compared between patients with and without FGIDs., Results: During the study period, 78 children [41 girls, age between 4 and 17 years, mean ± standard deviation (SD): 11.5 ± 4.3 years] with epilepsy were included in the study. The mean age at epilepsy onset was 7.8 ± 3.7 years, and mean disease duration was 5.1 ± 3.9 years. The most common epilepsy type was focal (74.3%), followed by generalized (25.7%). There was at least one of the FGIDs in 26 children in the patient group and 15 children in the control group (33.3% vs. 19.2%, p < 0.001). The most common FGID in the patient group was irritable bowel syndrome (IBS), which was significantly higher than the control group. While aerophagia and rumination syndrome were not seen in either group, cyclic vomiting syndrome was seen only in the patient group. When the patients with and without FGIDs were compared, there was no difference between the groups in terms of epilepsy type, frequency of seizure, type, and the number of drugs used., Conclusions: We found that children with epilepsy have a higher prevalence of FGIDs when compared with age- and sex-matched healthy controls. Our results suggest that children with epilepsy, especially complaining of gastrointestinal symptoms, should be screened for FGIDs., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2020 Elsevier Inc. All rights reserved.)
- Published
- 2020
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30. Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features.
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Carman KB, Kaplan E, Aslan CN, Kocagil S, Cilinigr O, and Yarar C
- Abstract
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by dysmorphic features, neurodevelopmental delay, growth retardation, and hypertrichosis cubiti. It is caused by pathogenic variants in the KMT2A gene. Here, we report a child with WSS presented with neurodevelopmental delay. Genetic analysis revealed a heterozygous c.2312dupC (p.Ser774Valfs*11) variant at the KMT2A gene that was classified as pathogenic in dbSNP (rs1057518649). To the best of our knowledge, this is the first patient of WSS from Turkey. This case draws attention to the diagnosis of WSS in children with neurodevelopmental delay., Competing Interests: Conflict of Interest None declared., (Thieme. All rights reserved.)
- Published
- 2020
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31. Developing a scale of social attitude towards childhood epilepsies: a validity and reliability study.
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Çarman KB, Arslantaş D, Karadağ E, Yarar C, Dinleyici M, and Ünsal A
- Abstract
Aim: There is no scale of social attitude towards childhood epilepsies. In this research study, it was aimed to develop a valid and reliable scale based on three-component attitude model to measure society's attitudes towards childhood epilepsy., Material and Methods: This study was conducted in a province in Central Anatolia with 314 participants (150 males and 164 emales) aged between 18 and 68 years. The data in the study were obtained by applying a draft scale consisting of 52 items. Correlation analysis was performed to determine item discrimination of the items included in the draft scale; exploratory and confirmatory factor analyses were performed to determine the scale's structure validity and Cronbach alpha internal-consistency coefficients were used to determine the scale's measurement reliability., Results: In the study, a two-factor structure with an eigenvalue above 1, which explained 52.39% of the variance, was obtained as a result of principal component analysis and Horn's parallel analysis. Following confirmatory factor analysis, the factor structure modeled in exploratory factor analysis was confirmed within the context of standard fit values. The Cronbach alpha internal consistency coefficient (measurement reliability of the scale) was between 0.75 and 0.85. The Childhood Epilepsy Attitude Scale consists of 12 items included in two factors: (i) Affective and Behavioral Attitude and (ii) Cognitive Attitude. The scale is a 5-point Likert-type scale., Conclusion: According to the data obtained in the study, the scale is a valid and reliable data collection tool that can be used for measuring individuals' attitudes towards childhood epilepsy. It is thought that this scale can be used in studies related to childhood epilepsy., Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare., (Copyright: © 2020 Turkish Archives of Pediatrics.)
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- 2020
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32. Quality-of-life Evaluation of Healthy Siblings of Children with Chronic Illness
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Dinleyici M, Çarman KB, Özdemir C, Harmancı K, Eren M, Kirel B, Şimşek E, Yarar C, Duyan Çamurdan A, and Şahin Dağlı F
- Subjects
- Adolescent, Analysis of Variance, Child, Child, Preschool, Chronic Disease psychology, Cross-Sectional Studies, Female, Healthy Volunteers, Humans, Male, Self Report, Sibling Relations, Surveys and Questionnaires, Chronic Disease classification, Quality of Life psychology, Siblings psychology
- Abstract
Background: Chronic disease of children can cause changes in the health-related quality of life (HrQoL) of the family members., Aims: To evaluate the HrQoL of healthy siblings of children with chronic disease., Study Design: Cross-sectional study., Methods: The study included healthy sibling of children with chronic disease (cerebral palsy, epilepsy, diabetes, celiac disease, hematologic/oncologic disease, or asthma) and healthy sibling of healthy children to evaluate the quality of life. We used the Pediatric Quality of Life Inventory questionnaire; the physical health and psychosocial health scores were calculated using the responses of the sibling and parent. The primary endpoint was the comparison of HrQoL scores of healthy siblings of children with chronic disease and that of healthy siblings of healthy children., Results: This study included a respective healthy sibling of 191 children with chronic disease and healthy sibling of 100 healthy children. The physical health, psychosocial health, and total health scores of healthy siblings of children with chronic disease were significantly lower than that of healthy siblings of healthy children (p<0.001). Among the healthy siblings of children with chronic disease, the lowest psychosocial health score was found in the siblings of children with cerebral palsy, hematologic/oncologic disease, and asthma (p<0.001). The global impact on the quality of life for healthy siblings of children with chronic disease was significantly higher in the self-report of the children than that of the parents (30.4% versus 15.1%, p<0.05)., Conclusion: Most healthy siblings of children with chronic disease are physically and psychosocially affected and there is low parental awareness of this condition. This can increase the risk of emotional neglect and abuse of these children. Therefore, special support programs are needed for the families of children with chronic diseases.
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- 2019
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33. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study).
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Carman KB, Calik M, Karal Y, Isikay S, Kocak O, Ozcelik A, Yazar AS, Nuhoglu C, Sag C, Kilic O, Dinleyici M, Lacinel Gurlevik S, Yimenicioglu S, Ekici A, Perk P, Tosun A, Isik I, Yarar C, Arslantas D, and Dinleyici EC
- Subjects
- Child, Preschool, Coinfection virology, Female, Humans, Infant, Male, Prospective Studies, Viruses classification, Respiratory Tract Infections complications, Respiratory Tract Infections virology, Seizures, Febrile virology, Virus Diseases complications, Viruses isolation & purification
- Abstract
Background: 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 < 0.05). 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 < 0.05)., 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.
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- 2019
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34. Menstruation-related headache in adolescents: Point prevalence and associated factors.
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Carman KB, Arslantas D, Unsal A, Atay E, Ocal EE, Demirtas Z, Saglan R, Dinleyici M, and Yarar C
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- Adolescent, Cross-Sectional Studies, Female, Headache Disorders, Secondary diagnosis, Headache Disorders, Secondary etiology, Humans, Menstruation Disturbances diagnosis, Menstruation Disturbances etiology, Prevalence, Risk Factors, Self Report, Severity of Illness Index, Turkey epidemiology, Young Adult, Headache Disorders, Secondary epidemiology, Menstruation Disturbances epidemiology
- Abstract
Background: The aim of this study was to investigate the prevalence of menstruation-related headache and the impact of associated factors in adolescents., Methods: This cross-sectional study was conducted in seven randomly selected high schools, and 3,886 girls attending those schools were invited to take part. After the consent of the school principals, a final total of 2,485 girls (63.9%) were involved in the study. A specific questionnaire was distributed to adolescent girls (14-19 years old). The first part of the survey investigated the features of menstruation (age at first menstruation, duration of period, pad fully soaked per day). The last part of the questionnaire surveyed the presence of headache during the menstrual period. The severity of headache was measured using a visual analog scale. Last, participants were requested to complete the Beck Depression Inventory (BDI). The prevalence of menstruation-related headache and associated factors were studied., Results: Mean subject age was 15.89 ± 1.07 years (range, 14-19 years) and mean age at menarche was 12.96 ± 1.09 years old. The prevalence of menstruation-related headache was 25.9% (n = 646). Onset of menstruation at <12 years of age, longer duration of menstruation period, dysmenorrhea, daily consumption of coffee and cola and smoking significantly affected the frequency of menstruation-related headache. Mean BDI score was 21.68 ± 13.65 and was significantly associated with menstruation headache., Conclusion: Menstruation-related headache is a common problem in adolescent girls. It might be associated with different comorbidities such as depression. Accordingly, a multidisciplinary treatment approach must be considered to improve the quality of life., (© 2018 Japan Pediatric Society.)
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- 2018
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35. The immunization status of children with chronic neurological disease and serological assessment of vaccine-preventable diseases.
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Dinleyici M, Carman KB, Kilic O, Laciner Gurlevik S, Yarar C, and Dinleyici EC
- Subjects
- Adolescent, Antibodies, Bacterial blood, Antibodies, Viral blood, Antigens, Viral blood, Child, Child, Preschool, Chronic Disease, Communicable Diseases epidemiology, Communicable Diseases microbiology, Female, Humans, Immunization, Secondary, Infant, Male, Nervous System Diseases blood, Serologic Tests, Turkey epidemiology, Communicable Diseases blood, Immunization Programs statistics & numerical data, Nervous System Diseases immunology, Vaccination Coverage statistics & numerical data, Vaccines administration & dosage
- Abstract
The aim of this study was to evaluate the age-appropriate immunization coverage in 366 children with chronic neurological disease (CND), to evaluate the use of vaccines not included in routine program, to evaluate serological tests for vaccine-preventable diseases and to describe the related factors in unvaccinated children. 95.6% of all children with had received age-appropriate vaccinations according to the actual National Immunization Program (NIP) during childhood. 12 children (3.6%) had not received vaccines; only two had true contraindications. Because most of the vaccines have been implemented through the NIP for 10 years in Turkey, 88% of children required these new vaccines or booster doses. Moreover, 86.6% of the children and 92.6% of household contacts had no prior history of influenza vaccine. Furthermore, 88% of the patients had not received the varicella vaccine, and the anti-varicella IgG levels were only negative in 27.9%. In addition, 18.6% of the children were negative for anti-mumps IgG, 23.7% for anti-measles IgG, and 6.3% for anti-rubella IgG. Anti-HBs IgG level was 0-10 IU/L in 45.6% of the patients (most of them previously vaccinated) and 79.8% were negative for hepatitis A IgG antibodies. For pertussis infection, the antibody titers of 54.1% of patients were below the protective level, and 10% of patients had a prior acute pertussis infection. Therefore, it is suggested that children with CND should be evaluated for their vaccination status during their first and follow-up visits at certain intervals, and their primary immunization should be completed; moreover, many will need revaccination or booster doses.
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- 2018
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36. Apolipoprotein E allelic variants and cerebral palsy.
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Gümüş E, Aras BD, Çilingir O, Yarar C, Çarman KB, Laçiner-Gürlevik S, Koçak O, and Artan S
- Subjects
- Alleles, Child, Child, Preschool, Female, Gene Frequency, Genotype, Humans, Magnetic Resonance Imaging, Male, Pregnancy, Turkey, Apolipoproteins E genetics, Cerebral Palsy genetics
- Abstract
Gümüş E, Aras BD, Çilingir O, Yarar C, Çarman KB, Laçiner-Gürlevik S, Koçak O, Artan S. Apolipoprotein E allelic variants and cerebral palsy. Turk J Pediatr 2018; 60: 361-371. Cerebral palsy (CP) is the most frequent cause of mobility restriction and posture disturbance in childhood. Against the complexity in disease etiology, genetic factors, including Apolipoprotein E allelic distribution in this patient population, are worthy targets for investigation. ApoE is a lipoprotein of central nervous system encoded by ApoE gene with its 3 main co-dominant alleles, 2, 3 and 4. We aimed to evaluate the allelic frequencies of ApoE gene and its association with coexisting clinical entities such as vision and hearing impairment, cognitive problems, seizures and MRI findings in a pediatric patient population native to middle Anatolian region. Seventy-eight children with CP and 60 healthy controls were genotyped. Genotypic variations along with coexisting clinical conditions and CP-related medical findings were compared between the patient and control groups. The Denver Developmental Screening Test for all, the Wechsler Intelligence Scale for Children-IV (short form WISC-IV; Turkish version) for the patients > 6y and the Stanford-Binet Intelligence Scale (SB-5) for those who aged 2-6 years old were employed to evaluate cognitive and mental abilities of the patients. ApoE 2 and 4 alleles were more frequent in the patient group (p < 0.05), whereas ApoE 3 allele was more frequent in the healthy controls. ApoE 2/4 genotype has been determined 29% in the case group, but none in healthy control group. In the patient group with apolipoprotein 4 or 2 alleles, the rate of emergency cesarean section was found being significantly higher than the group with 3 allele. Brain MRI findings were not significantly different among ApoE allelic variants within the patient group. Our data show that the ApoE alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in those patients.
- Published
- 2018
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37. Neurocognitive Consequences of Childhood Leukemia and Its Treatment.
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Turhan AB, Tülin Fidan S, Yarar C, Nazlı Sakallı E, Özdemir ZC, and Bör Ö
- Abstract
As survival rates have improved in pediatric patients with leukemia, late side effects from chemotherapeutics and radiotherapy have become important considerations. We investigated these side effects and evaluated their impact on neurocognitive functions. The observational study included 68 patients with acute leukemia who were treated at Eskisehir Osmangazi University Medical Faculty. The study also included 62 of the patients' closest age siblings as a control group. Demographic and clinical data, chemotherapy protocol, use of radiotherapy were recorded, neurological and ophthalmological examinations, cranial imaging, electroencephalography, visual evoked potential, and hearing investigations were performed, and neurocognitive functions were evaluated. At least one or more late effects detected by a neurologic abnormality on physical exam, cranial magnetic resonance imaging, neurological tests, or neurocognitive tests was significantly more likely in the patient group (82.4%) compared to the control group (29%, p < 0.001). A higher rate (82.4%) of delayed neurological and cognitive problems occurred in children who received radiotherapy, intrathecal and/or systemic chemotherapy during leukemia treatment compared to age-matched siblings. Patients being treated for leukemia should be periodically evaluated for treatment-related side effects. Prophylactic interventions such cognitive training and maintenance of academic growth may offer the best hope of preventing late effects., Competing Interests: Compliance with Ethical StandardsThe authors declare no conflict of interest.
- Published
- 2018
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38. Incomplete Miller-Fisher Syndrome with Advanced Stage Burkitt Lymphoma.
- Author
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Özdemir ZC, Kar YD, Yarar C, Þaylýsoy S, and Bör Ö
- Subjects
- Child, Humans, Male, Ophthalmoplegia, Burkitt Lymphoma, Miller Fisher Syndrome
- Abstract
Background: Lymphoma-associated incomplete Miller-Fisher syndrome is very rare., Case Characteristics: An 11-year-old boy who initially presented with headache, left ptosis, diplopia and weakness. Neurologic examination indicated left sided ptosis with ophthalmoplegia., Observations: Cerebral imaging and cerebrospinal fluid examinations were normal. Magnetic resonance imaging of the abdomen showed a mass lesion in the ileal loops. A bone marrow biopsy showed infiltration by Burkitt's lymphoma., Message: Burkitt lymphoma may present with incomplete Miller Fisher syndrome.
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- 2017
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39. Neurodevelopment of preterm infants born after in vitro fertilization and spontaneous multiple pregnancy.
- Author
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Ramoğlu M, Kavuncuoğlu S, Aldemir E, Yarar C, and Eras Z
- Subjects
- Birth Weight, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Infant, Premature, Male, Pregnancy, Pregnancy Outcome, Child Development, Fertilization in Vitro, Pregnancy, Multiple
- Abstract
Background: The aim of this study was to compare perinatal, neonatal characteristics and neurodevelopmental prognosis of preterm infants born after in vitro fertilization (IVF) and spontaneous multiple pregnancy, and to evaluate the factors affecting neurodevelopmental outcome at 24-36 months., Methods: A total of 125 preterm infants, 65 from spontaneous and 60 from IVF multiple pregnancy were evaluated in terms of neurodevelopmental outcome at the age of 24-36 months. Mean maternal age, chronic maternal disease, birthweight, gestational week, gender, APGAR score, neonatal intensive care unit admission, presence of congenital anomalies, referral to follow up, rehospitalization and socioeconomic status were investigated. Gross Motor Function Classification System and Denver II Developmental Screening Test were carried out. Local ethics committee approved the study (12.10.2010; no: 305)., Results: Mean maternal age, chronic maternal illness, pregnancy-related diseases, 5 min APGAR score, rate of cesarean delivery and referral to follow up were significantly higher in the IVF group (P < 0.05). Neurological examination identified increased muscle tone in two children (1.6%); only one infant in the IVF group had cerebral palsy. A total of 26 subjects (20.8%; spontaneous group, n =17, 26.2%; IVF group, n = 9, 15%) had abnormal Denver II findings, mostly in language (8.8%) and personal-social (8.0%) development., Conclusion: Morbidity, length of hospitalization and neurodevelopmental outcome of preterm infants born after spontaneous and IVF multiple pregnancy are similar. Delays in language and personal-social development were the most common neurodevelopmental abnormalities. Even within similar socioeconomic status, parents in the IVF group were more compliant with follow up., (© 2016 Japan Pediatric Society.)
- Published
- 2016
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40. Evaluation of hypercoagulability state in perinatal arterial ischemic stroke with rotation thromboelastometry.
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Kocak O, Yarar C, Turhan AB, Akay OM, Carman KB, and Yakut A
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- Child, Preschool, Female, Humans, Infant, Male, Retrospective Studies, Thrombophilia complications, Stroke diagnosis, Stroke etiology, Thrombelastography methods, Thrombophilia diagnosis
- Abstract
Background: Perinatal arterial ischemic stroke (PAIS) is an important cause of pediatric morbidity and mortality. The etiology of PAIS remains unknown. Several maternal-neonatal disorders, and especially prothrombotic risk factors, have been reported in infants with perinatal stroke (PS). Rotation thromboelastometry (ROTEM) can analyze the coagulation system, from the beginning of coagulation, through clot formation, and ending with fibrinolysis. The aim of this study was to evaluate the hypercoagulability state in PAIS patients using ROTEM., Methods: Patients were obtained by evaluating hospital files retrospectively. Twenty patients with PAIS and 19 healthy controls were included in the study. Prothrombotic risk factors and standard coagulation parameters were collected for all patients. Thromboelastometry (TEM) analysis was performed with the ROTEM® Coagulation Analyzer model Gamma 2500 (Tem International, Munich, Germany). Patients were separated into two groups; Group 1 included PAIS patients with prothrombotic risk factors and Group 2 included patients with no prothrombotic risk factors., Results: Group 1 includes six patients and Group 2 includes fourteen. Maternal risk factors were reported in 55 % and prothrombotic risk factors were detected in 30 % of the patients. ROTEM analyses were done mean age of 11.2 ± 9.4 months. ROTEM analysis showed that maximum clot firmness (MCF) value on both groups was significantly higher than in the control group, which is consistent with a hypercoagulable state. There was no statistical difference between the MCF values of Group 1 and Group 2. No significant correlations were found between the ROTEM parameters and the hematological parameters., Conclusion: The etiology of PAIS is still unclear. Prothrombotic risk factors may be an important etiology for PAIS. However, standard hematological tests for evaluating prothrombotic risk factors are limited. In our study, ROTEM analyses showed higher maximum clot firmness in PAIS patients compared to controls. ROTEM analyses may suggest a hypercoagulable state due to abnormal fibrinolysis in PAIS patients. Normative data and further research is needed to validate our findings.
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- 2016
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41. Congenital amegakaryocytic thrombocytopenia with severe neurological findings.
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Bör Ö, Turhan AB, and Yarar C
- Subjects
- Congenital Bone Marrow Failure Syndromes, Humans, Male, Nervous System Diseases etiology, Thrombocytopenia complications
- Abstract
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive disorder characterized by thrombocytopenia from failure of megakaryopoiesis. The genetic background of CAMT is mutations in the myeloproliferative ligand gene encoding the thrombopoietin receptor. In our patient with CAMT, we identified homozygous missense mutations [c.407C>T (p.P136L)]. The association of CAMT and central nervous system (CNS) abnormalities is uncommon. Here we present a case in which CAMT appears linked to CNS abnormalities (encephalomalacia, global atrophy) and developmental delay related with intrauterine intracranial hemorrhage.
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- 2016
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42. Hemi-meningitis with hemophagocytic lymphohistiocytosis.
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Kocak O, Yarar C, Yimenicioğlu S, Ekici A, and Bör Ö
- Abstract
Hemophagocytic lymphohistiocytosis (HLH) is a rare lymphoproliferative disorder. HLH may occur as a complication of Epstein-Barr virus (EBV), particularly in patients with immunodeficiencies. Herein, we describe a 16-year-old girl with neurological complications associated EBV-induced HLH. Her cerebral magnetic resonance imaging (MRI) showed contrast-enhanced axial T1-weighted images with enhancement of meningeal surface in the right hemisphere that was consistent with right hemi-meningitis. Hydrocephalus, dilated subdural spaces, delayed myelination, edema, diffuse parenchymal atrophy, calcifications, diffuse/patchy white matter abnormalities have all been previously described with HLH. To the best of our knowledge, this is the first case of hemi-meningitis associated with HLH. We suggest that clinicians should consider HLH with vascular disorders when they determine unilateral meningitis on a brain MRI.
- Published
- 2016
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43. A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.
- Author
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Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, and Anlar B
- Subjects
- Anticonvulsants therapeutic use, Asia, Carbamazepine therapeutic use, Electroencephalography, Europe, Humans, Measles virus isolation & purification, Myoclonus drug therapy, Myoclonus etiology, Subacute Sclerosing Panencephalitis complications, Subacute Sclerosing Panencephalitis drug therapy, Surveys and Questionnaires, Antiviral Agents therapeutic use, Inosine Pranobex therapeutic use, Interferons therapeutic use, Subacute Sclerosing Panencephalitis diagnosis
- Abstract
Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by the measles virus (MV). Its prevalence remains high in resource poor countries and is likely to increase in the Northern Europe as vaccination rates decrease. Clinical knowledge of this devastating condition, however, is limited. We therefore conducted this multinational survey summarizing experience obtained from more than 500 patients treated by 24 physicians in seven countries. SSPE should be considered in all patients presenting with otherwise unexplained acquired neurological symptoms. In most patients, the diagnosis will be established by the combination of typical clinical symptoms (characteristic repetitive myoclonic jerks), a strong intrathecal synthesis of antibodies to MV and typical electroencephalogram findings (Radermecker complexes). Whereas the therapeutic use of different antiviral (amantadine, ribavirin) and immunomodulatory drugs (isoprinosine, interferons) and of immunoglobulins has been reported repeatedly, optimum application regimen of these drugs has not been established. This is partly due to the absence of common diagnostic and clinical standards focusing on neurological and psychosocial aspects. Carbamazepine, levetiracetam, and clobazam are the drugs most frequently used to control myoclonic jerks. We have established a consensus on essential laboratory and clinical parameters that should facilitate collaborative studies. Those are urgently needed to improve outcome., (Georg Thieme Verlag KG Stuttgart · New York.)
- Published
- 2015
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44. Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
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Gulec EY, Ocak Z, Candan S, Ataman E, and Yarar C
- Subjects
- Child, DNA Mutational Analysis, Female, Humans, Infant, Noonan Syndrome metabolism, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11 metabolism, DNA genetics, Mutation, Noonan Syndrome genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 11 genetics
- Published
- 2015
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45. Akathisia in association with herpes simplex encephalitis relapse and opercular syndrome in children.
- Author
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Kocak O, Yarar C, Yakut A, Ekici A, Yimenicioglu S, and Saylisoy S
- Subjects
- Child, Preschool, Encephalitis, Herpes Simplex complications, Encephalitis, Herpes Simplex diagnosis, Epilepsy, Frontal Lobe complications, Epilepsy, Frontal Lobe diagnosis, Humans, Male, Psychomotor Agitation diagnosis, Psychomotor Agitation etiology, Secondary Prevention, Treatment Outcome, Antiviral Agents therapeutic use, Encephalitis, Herpes Simplex drug therapy, Epilepsy, Frontal Lobe drug therapy, Propranolol therapeutic use, Psychomotor Agitation drug therapy
- Abstract
We report a 2-year-old boy with herpes simplex virus type 1 encephalitis (HSE) and opercular syndrome who presented with clinical relapse characterized by chorea-like involuntary movements that suggest akathisia. The patient initially presented with multiple focal seizures that cause epilepsia partialis continua, polymerase chain reaction (PCR) for herpes simplex virus type 1 was positive. He developed hypersalivation, speech and swallowing difficulties within 30days. Based on these findings the patient was diagnosed as having opercular syndrome due to HSE. He developed akathisia on 44th day of admission as a relapse and he was successfully treated with propranolol. Opercular syndrome might be seen HSE in children and it may cause neurological suquela. Akathisia might be seen after encephalitic process as a symptom of relapse, however diagnosis of akathisia is difficult in young children. It should be noted that because propranolol effective for these involuntary movements. It can be add additional choice of treatment in these patients., (Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)
- Published
- 2014
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46. Essential palatal tremor treated with botulinum toxin.
- Author
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Carman KB, Ozkan S, Yarar C, and Yakut A
- Subjects
- Anticonvulsants therapeutic use, Child, Electromyography, Humans, Male, Neurologic Examination, Tinnitus etiology, Anti-Dyskinesia Agents therapeutic use, Botulinum Toxins therapeutic use, Essential Tremor drug therapy, Essential Tremor physiopathology, Palatal Muscles physiopathology, Palate, Soft physiopathology
- Abstract
Palatal tremor is a rare movement disorder characterized by rhythmic movement of the soft palate. There are two subtypes: essential and symptomatic palatal tremor. Essential palatal tremor is characterized by tinnitus and an absence of other neurological deficits. Different treatment options have been used to treat palatal tremor, with varying success rates. Here we describe a patient with essential palatal tremor and who was treated with botulinum toxin injections., (Crown Copyright © 2013. Published by Elsevier Inc. All rights reserved.)
- Published
- 2013
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47. Glutaric aciduria type 1 presenting as subdural haematoma.
- Author
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Carman KB, Aydogdu SD, Yakut A, and Yarar C
- Subjects
- Amino Acid Metabolism, Inborn Errors complications, Brain Diseases, Metabolic complications, Female, Glutaryl-CoA Dehydrogenase deficiency, Hematoma, Subdural diagnosis, Humans, Infant, Magnetic Resonance Imaging, Tandem Mass Spectrometry, Amino Acid Metabolism, Inborn Errors diagnosis, Brain pathology, Brain Diseases, Metabolic diagnosis, Hematoma, Subdural etiology
- Published
- 2012
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48. Massage Therapy Produces Short-term Improvements in Balance, Neurological, and Cardiovascular Measures in Older Persons.
- Author
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Sefton JM, Yarar C, and Berry JW
- Abstract
Background: Falls are the primary cause of accidental death in older persons, producing increased morbidity, decreased independence, and billions in medical costs annually. Massage therapy (MT) may produce adaptations that decrease risk of falling. If MT can improve stability in older persons, it may provide a new intervention for this issue., Purpose: Determine the acute effects of a 60-minute MT treatment on static and functional balance, neurological measures, heart rate, and blood pressure in healthy, older individuals., Setting: Laboratory, Research Design: A 2 by 4 (treatment by time) mixed factorial experimental design for the cardiovascular and postural control variables; independent variables were treatment with two levels (control, MT) and time with four levels (pretreatment baseline, immediate post-treatment, 20-minute post-treatment, 60-minute post-treatment). Neurological measures utilized a 2 by 2 mixed design, with testing conducted pre- and 60-minutes post-treatment., Participants: Thirty-five healthy, older volunteers (19 male and 16 female; ages 62.9 ± 4.6)., Intervention: A 60-minute full-body therapeutic massage. The control group rested quietly in the treatment room., Main Outcome Measures: Static (double-legged) and functional (single-legged) postural control with eyes-open and eyes-closed; Hoffmann-reflex measures; heart rate, and systolic and diastolic blood pressure., Results: MT significantly decreased rectangular displacement area in both the eyes-open and eyes-closed, double-legged stance conditions (p < 0.05); displacement velocity in both eyes-open conditions (p < .05); and systolic and diastolic blood pressure (p < .05), while increasing heart rate (p < .05). MT also significantly lowered H(max)/M(max) ratios compared to controls (p = .002). Decreased H(max)/M(max) measures were correlated to improved stability., Conclusions: A single, 60-minute, full-body massage therapy treatment was shown to have a stabilizing effect on measures of static and dynamic balance and physiological factors related to stability in older adults. MT should be investigated as a potential intervention to decrease falls in older individuals.
- Published
- 2012
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49. Six weeks of massage therapy produces changes in balance, neurological and cardiovascular measures in older persons.
- Author
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Sefton JM, Yarar C, and Berry JW
- Abstract
Objectives: Falls in older adults represent a primary cause of decreased mobility and independence, increased morbidity, and accidental death. Research and clinical reports indicate that therapeutic massage (TM) may positively influence suggested causative factors. The second in a two-part study, this project assessed the effects of six weeks of TM treatment on balance, nervous system, and cardiovascular measures in older adults., Design: A randomized controlled trial assessed the effects of six weekly 60-minute sessions of TM on balance, cardiovascular, and nervous system measures. Thirty-five volunteers (19 male and 16 female; ages 62.9 ± 4.6) were randomly assigned to relaxation control or TM groups. A 2 × 4 [treatment condition X time (week 1 and 6)] mixed factorial experimental design was utilized for cardiovascular/balance variables assessed at pretreatment baseline, immediate post-treatment, and 20- and 60-minutes post-treatment; nervous system measures were assessed only at pretreatment and at 60-minute follow-up (2 × 2 mixed design). Long-term benefits were assessed by comparing the TM and control groups on pretreatment baseline measures at week six and a follow-up assessment at week seven (2 × 3 mixed design)., Setting: Laboratory, Intervention: Six weekly 60-minute, full-body TM., Outcome Measures: Postural control/cardiovascular measures were assessed weeks one, six, and seven; pretreatment and immediate, 20- and 60-minutes post-treatment. Motoneuron pool excitability was assessed pretreatment and 60 minutes post-treatment., Results: The TM group showed significant differences relative to controls in cardiovascular and displacement area/velocity after the week six session, with decreasing blood pressure and increasing stability over time from immediate post-TM to 60 minutes post-TM. The TM group revealed lower H-max/M-max ratios 60-minutes post-treatment. Long-term differences between the groups were detected at week seven in displacement area/velocity and systolic blood pressure., Conclusions: Results suggest six weeks of TM resulted in immediate and long-term improvements in postural stability and blood pressure, compared to a controlled condition.
- Published
- 2012
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50. Physiological and clinical changes after therapeutic massage of the neck and shoulders.
- Author
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Sefton JM, Yarar C, Carpenter DM, and Berry JW
- Subjects
- Adult, Cross-Over Studies, Female, Humans, Male, Musculoskeletal Diseases diagnostic imaging, Musculoskeletal Diseases physiopathology, Neck Muscles diagnostic imaging, Range of Motion, Articular, Shoulder diagnostic imaging, Ultrasonography, Young Adult, Massage methods, Musculoskeletal Diseases therapy, Neck Muscles physiology, Shoulder physiology
- Abstract
Little is known regarding the physiological and clinical effects of therapeutic massage (TM) even though it is often prescribed for musculoskeletal complaints such as chronic neck pain. This study investigated the influence of a standardized clinical neck/shoulder TM intervention on physiological measures assessing α-motoneurone pool excitability, muscle activity; and the clinical measure of range of motion (ROM) compared to a light touch and control intervention. Flexor carpi radialis (FCR) α-motoneurone pool excitability (Hoffmann reflex), electromyography (EMG) signal amplitude of the upper trapezius during maximal muscle activity, and cervical ROM were used to assess possible physiological changes and clinical effects of TM. Sixteen healthy adults participated in three, 20 min interventions: control (C), light touch (LT) and therapeutic massage (TM). Analysis of Covariance indicated a decrease in FCR α-motoneurone pool excitability after TM, compared to both the LT (p = 0.0003) or C (p = 0.0007) interventions. EMG signal amplitude decreased after TM by 13% (p < 0.0001), when compared to the control, and 12% (p < 0.0001) as compared to LT intervention. The TM intervention produced increases in cervical ROM in all directions assessed: flexion (p < 0.0001), lateral flexion (p < 0.0001), extension (p < 0.0001), and rotation (p < 0.0001). TM of the neck/shoulders reduced the α-motoneurone pool excitability of the flexor carpi radialis after TM, but not after the LT or C interventions. Moreover, decreases in the normalized EMG amplitude during MVIC of the upper trapezius muscle; and increases in cervical ROM in all directions assessed occurred after TM, but not after the LT or C interventions., (Copyright © 2011 Elsevier Ltd. All rights reserved.)
- Published
- 2011
- Full Text
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