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    Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları
    (2021) Çokyaman, Turgay; Erdem, Ülgen Özcan; Aylanç, Hakan; Sılan, Fatma
    Potocki Lupski ve Smith Magenis sendromları insan 17. kromozom kısa kolu (11.2 bandı) ile ilişkili sendromlardır. Bu bölgenin duplikasyonu Potocki Lupski, delesyonu ise Simth Magenis sendromu olarak tanımlanmaktadır. Çocukluk çağında nadir görülen bu hastalıkların tipik fenotipik özellikleri olsa da tanı ileri genetik analizlerle konulmaktadır. Bu makalede nörolojik gelişimsel gerilik başta olmak üzere bu iki sendromun neden olduğu diğer nörolojik komplikasyonları belirtmeyi ve pediyatri klinisyenlerinin bu sendromlara dikkatini çekmeyi amaçladık. Potocki Lupski and Smith Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band). Duplication of this region is defined as Potocki Lupski syndrome, and its deletion is defined as Smith Magenis syndrome. Although these diseases, which are rare in childhood, have typical phenotypic features, the diagnosis is made with advanced genetic analysis. In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.
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    Can a familial history of migraine and motion sickness be used in the diagnosis of childhood migraine?
    (Elsevier, 2025) Çokyaman, Turgay; Erdem, Ülgen Özcan
    Objective: Childhood migraine is a recurrent neurobiological complex disease and caused by multiple genetic and environmental factors. In this study, the clinical relevance of ICHD-3 diagnostic criteria, familial history of migraine and motion sickness was investigated. Methods: This study was conducted on children aged 10-18 years, who were randomly selected from 22 middle and 26 high schools. The survey, prepared in Turkish, asked about headache characteristics (ICHD-3 diagnostic criteria: 7 items), familial history of migraine, and presence of motion sickness (2 items). Results: According to data from the survey, 4 main factors emerged in the exploratory factor analysis. Photophobia, pain attack duration >= 1 h, headache attacks more than 4 times, familial history of migraine in factor-1, vomiting and nausea in factor-2, pulsatile pain and forehead and bitemporal localization in factor-3, avoidance routine physical activities and motion sickness in factor-4 are collected. Conclusion: Migraine, in which strong genetic pieces of evidence have been uncovered is a multifactorial brain disease. Moreover, the intense connections between the trigeminal system and vestibular nuclei demonstrated in the current literature reveal that the relationship between motion sickness and migraine cannot be ignored. Therefore, a positive familial history and motion sickness in childhood migraine are important additional diagnostic clues in addition to ICHD-3.
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    Contribution of neutrophil/lymphocyte ratio, RDW, RPR, MPV and MPR indexes to febrile seizure diagnosis
    (Galenos, 2020) Çokyaman, Turgay; Kasap, Tolga
    INTRODUCTION: In this study, it was aimed to investigate in detail the contribution of hemogram indices such as neutrophil/lymphocyteratio (NLR), red blood cell distribution width (RDW), RPR, MPR, mean platelet volume (MPV), and platelet count (PLT) to the diagnosis of febrile seizure (FS). MATERIALS and METHODS: 91 FS, 116 febrile disease and 100 healthy control cases were included in the study. Significant hemogram indices in favor of FS were determined as a result of double and triple group comparisons with appropriate statistical analyzes, and diagnostic cut-off values, sensitivity and specificity were calculated for FS diagnosis according to receiever operating characteristic (ROC) curve analysis. RESULTS: NLR index was significantly higher in the FS group. The median was 2.6 in the FS group, 1.6 and 0.7 in the febrile disease and healthy control groups, respectively (p<0.001). In the ROC curve analysis, thecut-off values, sensitivity and specificities of the NLR index for FS diagnosis were determined. The 1/RPR index was found to be statistically significantly lower in FS group. It was found to be 20.5 in the FS group, 23.3 and 23.2 in the febrile disease and healthy control groups, respectively (p=0.003). Similar to the NLR, cut-off values, sensitivity and specificities were calculated for FS diagnosis in the ROC curve analysis within the 1/RPR index. CONCLUSIONS: NLR and 1/RPR indexes are cheap and easily accessible hemogram parameters that can contribute to the diagnosis of FS. They can be used simply by practitioners and pediatricians in emergency rooms and out patient clinics. © 2020, Galenos. All rights reserved.
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    Diagnostic Inexperience of Takayasu Arteritis in Pediatric Neurology: A Case Report and Mini-Review of the Literature
    (2023) Çokyaman, Turgay; Sınmaz, Yücel; Aylanç, Nilüfer; Akıncı, Ayşe Burcu; Sözeri, Betül
    Takayasu arteritis (TA) is a chronic inflammatory vasculitis involving the aorta and its main branches. It usually starts with systemic inflammatory signs after ten years of age. Neurological symptoms seen depend on aneurysmatic, stenotic and thromboembolic events in the affected vessels. It is rarely seen in childhood and presentation with epileptic seizure is extremely rare in infantile age. In this case report, a 22-month-old child who was admitted with epileptic seizure and had a large infarction in the area matching the right middle cerebral artery (MCA) watershed. Symptoms and imaging findings due to infarction developed hours after epileptic seizure. First, low molecular weight heparin treatment was started. Following the development of multiple aneurysmatic-stenotic lesions in the left brachial artery and profunda branch, diagnosed as TA. It was added to oral steroid and azathioprine. Resistant seizures were controlled with levetiracetam and valproic acid in the poststroke period. Multidisciplinary follow-up is ongoing with anticoagulant, antiepileptic and immunosuppressive treatments. TA rarely occurs in the infantile period with acute neurological symptoms such as epileptic seizure and stroke. It is important to make diagnosis early in order to reduce the neurological comorbidities that may occur in the long term.
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    Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
    (Sivas Cumhuriyet University, 2022) Aylanc, Hakan; Sılan, Fatma; Çokyaman, Turgay; Akcan, Mehmet Berkay; Özdemir, Öztürk
    The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes the rho-GTPase-activating protein which spans 500 kb in size and consists of 25 exons. Gene plays crucial role in synaptic function and dendritic morphogenesis. Here we report a 391 kb deletion in OPHN1 gene in a mother and her newborn male child with recognizable pattern of clinical and neuroradiological hallmarks. Mother has short stature, and her son has distinctive facial appearance, bilateral choroid plexus cysts and low birth weight (1600 g). After clinical evaluation, the current large intragenic gene deletion was identified by microarray-CGH and confirmed by MLPA techniques. The P106 MRX probemix kit (MRC Holland C1- 0416, Amsterdam) and Coffalyser software were used for MLPA and Agilent sure print G3 HUMAN CGH 60k Microarray platform and Agilent cytogenomics 4.0.2.21 software (Singapore) were used for advance chromosomal genotyping for mother and his son in the presented results. Presented results showed that mother with X chromosome deletion has a great risk to have a son with mental retardation due to deleted X chromosome transmission in 50% possibility. If the son has clinical findings, the genotype should be screened by using the advanced genetic methodology. Results also showed that once these cases are first diagnosed correctly, they may be candidate to IVF for preimplantation genetic diagnosis by giving appropriate genetic counseling. It is also comment that pregnant women who have the history of having X-linked mental retarded child or a mentally retarded brother need to be tested genetically for prenatal diagnosis.
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    Hot water epilepsy under 3 years of age: A short term follow-up study
    (2021) Gürbüz, Gürkan; Çokyaman, Turgay; Ozcora, Gül Demet Kaya
    Aim: Hot water epilepsy (HWE) is a type of reflex epilepsy that occurs as a result of immersing or pouring hot water over the head. Clinical and laboratory findings and short-term neurodevelopmental outcomes of patients were discussed in this report. Materials and Methods: Eight patients under the age of three and followed-up with a diagnosis of HWE between 2017 and 2020 were enrolled in the study. Patient files were evaluated retrospectively. Results: All our patients except one were boys. The patients’ mean age at admission was 16.6 months (min: 10, max: 36), and the mean follow-up period was 13.5 months (min: 6, max: 25). Two patients also experienced non-reflex motor seizures not related to bathing, and these received daily oral antiepileptic therapy. Six patients had focal onset secondary generalized seizures, while one had focal seizures and one has hypomotor seizures accompanied by loss of consciousness. neurodevelopmental milestones were compatible with the patient’s age in all followed-up cases. Clobazam administration before bathing is currently an effective and easily applicable method for this condition. Conclusion: Hot water epilepsy is mostly benign. Clobazam before bathing is an effective option. Daily oral antiepileptic therapy should be administered to patients with seizures accompanying HWE.
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    Otizm Spektrum Bozukluğu ve Down Sendromlu Çocukların Bakım Verme Yüklerinin Zarit Bakım Verme Yükü Ölçeği ile Değerlendirilmesi
    (2020) Çokyaman, Turgay; Şehitoğlu, M.Hilal
    Amaç Otizm Spektrum Bozukluğu (OSB) ve Down Sendromlu (DS) çocuklarda hafiften ağıra kadar değişebilen düzeylerde zihinsel yetersizlik görülmektedir. Zihinsel yetersizliğiolan bu çocukların kişisel bakım, gelişim ve sosyal yaşantıları birtakım destekler gerektirmektedir. Gerekli bakım ve destekleri veren bu bireylere birtakım yüklerbinmektedir. Bu çalışmada OSB ve DS çocuklara bakım verenlerin bakım yüklerinin karşılaştırılması amaçlanmıştır.Gereç veYöntemKesitsel ve prospektif olarak tasarlanan bu çalışmaya 01 Ocak 2018 ile 01 Ocak 2019 tarihleri arasında Çanakkale Onsekiz Mart Üniversitesi Hastanesi’nin Çocuk Sağlığı veHastalıkları Anabilim Dalına bağlı acil servis, poliklinikler ve servisinde ayaktan veya yatırılarak takip veya tedavi edilen OSB veya DS’li çocukların bakım verenleri dahiledildi. 18 yaşından büyük ve en az 1 yıldır bakım verenler gönüllülük esası ile çalışmaya alınmıştır. Bakım verenlerin yaş, cinsiyet, eğitim durumu, medeni hal, meslek,maddi gelir düzeyi gibi sosyodemografik özellikleri ve Zarit Bakım Verme Yükü Ölçeği (ZBYÖ) ile bakım verme yükleri belirlendi.Bulgular Çalışmaya toplam 91 (46 OSB, 45 DS) bakım veren katıldı. Bakım verenlerin çoğunluğu (%91) kadındı. OSB grubunda bakım verenlerin yaş ortalaması 37,73 yıl±7,82 veDS grubunda ortalama 43,24 yıl±10,71 idi (p:0,008). ZBYÖ toplam puan ortalaması OSB grubunda 51,81±15,84 iken DS grubunda 42,42±13,52 puan bulundu ve bu farkanlamlı idi (p:0,003).Sonuç Çalışmamızda DS’ye bakım veren kişilere göre OSB tanılı çocuklara bakım verenlerin bakım yükünün daha yüksek olduğunu saptadık. Araştırmamızın OSB’li çocuklarabakım verenlerin yaşadıkları güçlükleri tanımada ileride yapılacak daha kapsamlı çalışmalara referans olacağını düşünmekteyiz.
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    Pitfall of Steroid Treatment in Acute Demyelinating Encephalomyelitis Coexistent with Chickenpox: A Pediatric Case Report
    (Çanakkale Onsekiz Mart Üniversitesi, 2019-08-15) Çokyaman, Turgay; Yaman, Ayhan; Damar, Çağrı
    Primary infection of varicella zoster virus (VZV) causes to chickenpox and easily diagnosed with typical vesicular rashes. It is epidemic in pre-school and school age children since acute infection is very contagious. Infection usually heals spontaneously in healthy children. While post-infectious cerebellar ataxia is the most common complication of the central nervous system (CNS), it leads less likely to encephalitis, encephalomyelitis, meningitis, seizures and demyelinating diseases. Steroid and immune modulator treatments such as intravenous immunoglobulin (IVIG) or plasma exchange (PE) may be administered in the treatment of chickenpox related post-infectious demyelinating diseases. However, there is no clear data whether steroid treatment of demyelinating disease coexistent with chickenpox is suitable or not. In this article, we present a pediatric patient who acute demyelinating encephalomyelitis (ADEM) coexistent with chickenpox and given steroid treatment following IVIG and PE treatments.
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    A rare presentation of Susac syndrome: Report of three pediatric cases
    (Elsevier B.V., 2021) Çitçi Yalçınkaya, Beyza; Ertürk Çetin, Özdem; Kılıç, Hüseyin; Demirci, Onat; Çokyaman, Turgay; Uygunoğlu, Uğur
    Susac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.
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    Serum brain-derived neurotrophic factor in the diagnosis of febrile seizure
    (John Wiley and Sons Inc, 2021) Çokyaman, Turgay; Kasap, Tolga; Şehitoğlu, Hilal
    Background Brain-derived neurotrophic factor (BDNF) is a noncovalently linked homodimer protein from the neurotrophic growth factor family. Although it is expressed throughout the brain, it is produced more intensively in the entorhinal cortex and hippocampus and can cross the blood-brain barrier in two directions easily. The aim of this study is to understand, for the first time, whether there is a relationship between febrile seizure (FS) and BDNF. Methods The study included cases diagnosed with FS and febrile illness, of similar age, weight, and height, between 6 months and 6 years. Samples for serum BDNF measurement were taken within the first 24-48 h of admission at the hospital and levels were measured using the commercial enzyme-linked immunosorbent assay kit and expressed in ng/mL. Results Eighty cases (40 FS, 40 febrile illness) were included in the study. The mean serum BDNF was found to be 6.7 +/- 2.4 ng/mL in the FS group and 4.5 +/- 2.6 ng/mL in the febrile illness group (P = 0.001). No relation was found between gender, age, body weight, length, and platelet counts and serum BDNF levels. The optimal cut-off value for serum BDNF was found to be 5.2 ng/mL (75% sensitivity, 62.5% specificity, AUC: 0.723) to distinguish between FS and febrile illness. Conclusions Excluding demographic variables such as gender, age, weight, length, and platelet counts serum BDNF levels have increased in children with FS. Considering the hippocampal origin of FS, we can suggest that the pathophysiology of FS may be related to the BDNF.
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    Silence After The Storm; A Case of Bickerstaff’s Brainstem Encephalitis
    (T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi, 2021) Tekin, Emine; Çokyaman, Turgay; Taşdemir, Haydar Ali; Özyürek, Hamit
    A pediatric case with Bickerstaff’s brainstem encephalitis (BBE), which is a very rare monophasic post-infectious condi- tion characterized by central nervous system involvement, unconsciousness, ophthalmoplegia and ataxia, is presented. Twelve years old patient was brought with difficulty in eye movements and ataxia. On the second day, she became agitated and lethargic, and then bulbar palsy and whole body paralysis developed. Upper motor neuron involvement was evident. Routine biochemical parameters and serologic tests, cranial magnetic resonance imaging, lumbar puncture, autoimmune, paraneoplastic, and electrophysiological studies were evaluated. All were normal except for the encephalopathic first electroencephalography (EEG) and the EEG repeated on the 25th day was reported to be normal. Anti-ganglioside antibody, anti-GQ1b was found positive. Intravenous immunoglobulin (IVIG) started on the fourth day. A very rapid improvement was seen in the first week of IVIG treatment. She was able to walk in the second week. She was completely normal in 3 months. Although seven years passed, our patient has not had any relapse or neurological deficit. We presented a case diagnosed as BBE treated successfully with single dose intravenous Immunoglobulin. We wanted to emphasize that BBE has a good prognosis even though it is an acutely developing severe condition.
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    The effect of medical ozone on oxidative stress and neuroinflammation in the early stage after experimental status epilepticus
    (Springer, 2021) Çokyaman, Turgay; Öztopuz, Özlem; Coşkun, Özlem; Büyük, Başak; Kiraz, Hasan Ali; Elmas, Sait
    Preservation of the brain is important to reducing recurrent seizures and other neurological sequelae after status epilepticus (SE). Medical ozone (MedO3) shows antioxidant, anti-inflammatory and anti-apoptotic properties in the human body. In this study, it was aimed to understand the neuroprotective potential of MedO3 in the acute period after SE. Mature rats of Wistar Albino were used for the study. Group design O3 + SE: SE induced after MedO3, O3: MedO3 alone was given, SE: SE only induced, SE + O3; MedO3 given after SE, C: control and S: sham control group. SE was induced with lithium-pilocarpine experimental model and evaluated on the Racine scale. Peripheral blood samples and brain tissue samples were taken before decapitation. Histopathological evaluation of the hippocampus of the rats given medical O3 before and after SE were studied. The highest peripheral blood oxidative stress index (OSI) was found in SE group. The OSI level in O3 + SE and SE + O3 was significantly higher than SE/C/S. Gene expressions of TNF-α and IL-1β mRNA were significantly higher in SE compared to other groups. Histopathologically; eosinophilia, cellular shrinkage and interstitial oedema were detected in the most severe SE and to a lesser extent in O3 + SE/ SE + O3. MedO3 reduced SE-induced oxidative damage, neuroinflammation and neuronal injury and contributed positively to neuroprotection.