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1.
Turk J Pediatr ; 63(2): 319-322, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33929123

RESUMO

BACKGROUND: Levamisole is an imidazole derivative used in the treatment of various cancers, dermatological diseases, and parasitosis. Illegal use of levamisole by mixing it with cocaine in order to increase the psychotropic effects has also increased in recent years. Leukoencephalopathy is one of levamisole`s most prominent neurological side effects. CASE: Here we present the clinical, laboratory, imaging findings, treatment, and follow-up information of a 12-year-old girl who presented with seizures due to levamisole, which was prescribed to treat vitiligo. CONCLUSION: Levamisole-induced leukoencephalopathy should be considered in the differential diagnosis of demyelinating diseases, the neurotoxic effects of the drug should be well understood, and treatment should be initiated as soon as possible.


Assuntos
Transtornos Relacionados ao Uso de Cocaína , Leucoencefalopatias , Criança , Diagnóstico Diferencial , Feminino , Humanos , Leucoencefalopatias/induzido quimicamente , Leucoencefalopatias/diagnóstico , Levamisol/efeitos adversos , Convulsões/induzido quimicamente , Convulsões/tratamento farmacológico
2.
J Stroke Cerebrovasc Dis ; 30(1): 105438, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33197802

RESUMO

OBJECTIVES: Acute seizures and post-stroke epilepsy have been reported more frequently in patients with pediatric stroke than adults. Acute seizures in the first days of a stroke may deteriorate stroke and ischemia-related neurodegeneration and contribute to the development of post-stroke epilepsy. In this study, we aimed to investigate risk factors for the development of post-stroke epilepsy in children with arterial ischemic stroke. MATERIALS AND METHODS: We recruited 86 children with arterial ischemic stroke. We analyzed variables, including age at admission, gender, complaints at presentation, focal or diffuse neurologic signs, neurologic examination findings, laboratory investigations that were conducted at admission with stroke (complete blood cell count, biochemical-infectious-metabolic-immunological investigations, vitamin B12 levels, vitamin D levels), neuroimaging results, etiologies, time of the first seizure, time of remote seizures, and development of neurologic deficit retrospectively. Seizures during the first six hours after stroke onset were defined as 'very early seizures'. 'Early seizures' were referred to seizures during the first 48 h. Patients who experienced two or more seizures that occurred after the acute phase of seizures were classified as 'epileptic.' A binary logistic regression analysis was used to estimate risk factors. RESULTS: An acute seizure was detected in 59% and post-stroke epilepsy developed in 41% of our cohort. Binary logistic regression analysis demonstrated that 'very early seizures' increased epilepsy risk six-fold. Epilepsy was 16 times higher in patients with 'early seizures'. Low vitamin D levels were defined as a risk factor for post-stroke epilepsy. CONCLUSION: Seizures in the very early period (within the first six hours) are the most significant risk factors for the development of post-stroke epilepsy Further studies regarding seizure prevention and neuroprotective therapies are needed because post-stroke epilepsy will affect long term prognosis in patients with pediatric stroke.


Assuntos
Epilepsia/etiologia , AVC Isquêmico/complicações , Centros de Atenção Terciária , Adolescente , Fatores Etários , Criança , Pré-Escolar , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , AVC Isquêmico/diagnóstico , Masculino , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Deficiência de Vitamina D/complicações
3.
Neurochem Res ; 45(8): 1920-1929, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32444924

RESUMO

In neonates supraphysiological oxygen therapy has been demonstrated to cause neuronal death in hippocampus, prefrontal cortex, parietal cortex, and retrosplenial cortex. There is a need for the detection of novel neuroprotective drugs. Neuroprotective effects of lacosamide or memantine have been demonstrated in adult patients with ischemia, trauma and status epilepticus. The effects in immature brains may be different. This study aimed to evaluate neuroprotective effects of lacosamide and memantine treatment in a hyperoxia-induced brain injury model in immature rats. This study was performed in the Animal Experiments Laboratory of Dokuz Eylul University Faculty of Medicine. Neonatal Wistar strain rat pups were exposed to hyperoxia (80% oxygen + 20% nitrogen) for five days postnatally. They were divided into five groups; hyperoxia + lacosamide, hyperoxia + memantine, hyperoxia + lacosamide and memantine, hyperoxia + saline, control groups. After termination of the experiment, brain tissues were examined. Neuron counting in examined regions were found to be higher in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups than hyperoxia + saline group. The presence of apoptotic cells evaluated with TUNEL and active Caspase-3 in hyperoxia + memantine and hyperoxia + lacosamide and memantine groups were found to be lower compared to hyperoxia + saline group. This study demonstrates that neuron death and apoptosis in newborn rat brains after hyperoxia is reduced upon memantine treatment. This is the first study to show the effects of memantine and lacosamide on hyperoxia-induced damage in neonatal rat brains.


Assuntos
Lesões Encefálicas/prevenção & controle , Hiperóxia/complicações , Lacosamida/uso terapêutico , Memantina/uso terapêutico , Fármacos Neuroprotetores/uso terapêutico , Animais , Animais Recém-Nascidos , Apoptose/efeitos dos fármacos , Encéfalo/patologia , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/patologia , Neurônios/efeitos dos fármacos , Ratos Wistar
4.
Turk J Pediatr ; 62(1): 119-124, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32253876

RESUMO

Rotavirus is a leading cause of gastroenteritis in children under 5 years of age. It is known that neurological manifestations like seizures, encephalopathy and encephalitis can rarely be seen due to rotavirus infections. Cerebellar involvement is extremely rare. We present an uncommon neurological manifestation of rotavirus infection in a 4-year-old Turkish child who presented with hypotonia, reduced consciousness and mutism. Magnetic resonance imaging revealed diffusion abnormalities in the splenium of corpus callosum and nucleus dentatus bilaterally. She was diagnosed with rotavirus cerebellitis. She improved well with dexamethasone and intravenous immunoglobulin but still has dysarthria and poor fine motor coordination.


Assuntos
Encefalopatias , Encefalite , Gastroenterite , Infecções por Rotavirus , Rotavirus , Criança , Pré-Escolar , Feminino , Humanos , Imageamento por Ressonância Magnética , Infecções por Rotavirus/complicações , Infecções por Rotavirus/diagnóstico
6.
Turk J Pediatr ; 61(6): 931-936, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32134588

RESUMO

Okur D, Daimagüler HS, Ersen Danyeli A, Tekgül H, Wang H, Wunderlich G, Çirak S, Yis U. Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia. Turk J Pediatr 2019; 61: 931-936. We aimed to systematically investigate the neuromuscular involvement of individuals with PRUNE mutations who may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype. The complex neurological phenotypes associated with Prune mutations include microcephaly with brain abnormalities, spasticity, seizures, severe developmental delay and developmental regression. We used whole exome sequencing to identify the mutation and electrophysiological and muscle biopsy studies to evaluate the signs of spinal motor neuron involvement. The affected individuals carry homozygous PRUNE mutation (NM_021222.1, c.316G > A, p.D106N), showing the signs of spinal motor neuron involvement supported by electrophysiological and muscle biopsy findings and also persistent high creatine kinase levels. We confirm that individuals with PRUNE mutations may have a major spinal motor neuron involvement as part of the PRUNE-associated neurodegenerative phenotype. The PRUNE gene should be considered in all the individuals with non-5q spinal muscular atrophy. High creatine kinase values may be a part of PRUNE disease spectrum.


Assuntos
DNA/genética , Neurônios Motores/patologia , Músculo Esquelético/patologia , Atrofia Muscular Espinal/genética , Mutação , Monoéster Fosfórico Hidrolases/genética , Alelos , Homozigoto , Humanos , Lactente , Masculino , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/metabolismo , Malformações do Sistema Nervoso/genética , Fenótipo , Monoéster Fosfórico Hidrolases/metabolismo , Sequenciamento do Exoma
7.
Hum Mutat ; 39(9): 1284-1298, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29858556

RESUMO

Spinal muscular atrophies (SMAs) are a heterogeneous group of disorders characterized by muscular atrophy, weakness, and hypotonia due to suspected lower motor neuron degeneration (LMND). In a large cohort of 3,465 individuals suspected with SMA submitted for SMN1 testing to our routine diagnostic laboratory, 48.8% carried a homozygous SMN1 deletion, 2.8% a subtle mutation, and an SMN1 deletion, whereas 48.4% remained undiagnosed. Recently, several other genes implicated in SMA/LMND have been reported. Despite several efforts to establish a diagnostic algorithm for non-5q-SMA (SMA without deletion or point mutations in SMN1 [5q13.2]), data from large-scale studies are not available. We tested the clinical utility of targeted sequencing in non-5q-SMA by developing two different gene panels. We first analyzed 30 individuals with a small panel including 62 genes associated with LMND using IonTorrent-AmpliSeq target enrichment. Then, additional 65 individuals were tested with a broader panel encompassing up to 479 genes implicated in neuromuscular diseases (NMDs) with Agilent-SureSelect target enrichment. The NMD panel provided a higher diagnostic yield (33%) than the restricted LMND panel (13%). Nondiagnosed cases were further subjected to exome or genome sequencing. Our experience supports the use of gene panels covering a broad disease spectrum for diseases that are highly heterogeneous and clinically difficult to differentiate.


Assuntos
Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Doenças Neuromusculares/diagnóstico , Patologia Molecular , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Éxons/genética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Atrofia Muscular Espinal/patologia , Doenças Neuromusculares/genética , Doenças Neuromusculares/fisiopatologia , Mutação Puntual , Deleção de Sequência , Proteína 1 de Sobrevivência do Neurônio Motor/genética , Sequenciamento do Exoma , Sequenciamento Completo do Genoma , Adulto Jovem
8.
Acta Myol ; 37(3): 210-220, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30838351

RESUMO

The aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders.


Assuntos
Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Distrofia Muscular do Cíngulo dos Membros/genética , Adolescente , Idade de Início , Biópsia , Calpaína/genética , Criança , Pré-Escolar , Conectina/genética , Feminino , Testes Genéticos , Humanos , Lactente , Lamina Tipo A/genética , Masculino , Manosiltransferases/genética , Proteínas dos Microfilamentos , Proteínas Musculares/genética , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/patologia , Sarcoglicanopatias/epidemiologia , Sarcoglicanopatias/genética , Sarcoglicanas/genética , Turquia/epidemiologia
9.
Turk J Pediatr ; 60(4): 380-384, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30859761

RESUMO

Bayram E, Yis U, Paketçi C, Okur D, Polat I, Çakmakci H, Hiz S, Anlar B. Changes of primary headache related white matter lesions in pediatric patients. Turk J Pediatr 2018; 60: 380-384. We aimed to describe the long-term prognosis of white matter lesions detected on magnetic resonance imaging in children with primary headache. Children who were admitted with the complaint of headache and had nonspecific white matter lesions on magnetic resonance imaging were included in the study. The clinical findings of the patients were reinvestigated using the same magnetic resonance imaging scanner and acquisition protocol after at least a two year period. Magnetic resonance imaging results of the patients were documented in detail. Findings of the baseline and follow-up studies were compared with each other by the same radiologist. Among the 11 patients, 8 ( 72.7%) were male and 3 (27.3%) were female. Mean age of patients at the time of second imaging was 12.9±2.3 years. Eight (72.7%) had migraine without aura, 1 (9.1%) had tension-type headache and 2 (18.2%) had migraine with aura. The mean clinical follow-up period of the patients was 4.31±1.31 years. All patients had low headache frequency on the last control visit when compared to the first clinical findings. The follow-up magnetic resonance imaging studies showed two newly developed white matter lesions in two patients who had migraine without aura and the white matter lesions disappeared in the patient who had tension-type headache, compared to the baseline neuroimaging. Findings of the baseline and long-term follow-up magnetic resonance imaging studies of the patients with primary headache showed no significant changes in terms of the location, size and laterality. Repeated neuro-imaging studies are not warranted in the absence of the progression in clinical findings.


Assuntos
Cefaleia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Substância Branca/diagnóstico por imagem , Adolescente , Criança , Progressão da Doença , Feminino , Seguimentos , Cefaleia/patologia , Humanos , Masculino , Prognóstico , Turquia , Substância Branca/patologia
10.
J Child Neurol ; 32(8): 759-765, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28464723

RESUMO

Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the importance of genetic diagnosis. Here, the authors report on cases with genetically proven congenital myasthenic syndromes from Turkey. The authors retrospectively reviewed their experience of all patients with congenital myasthenic syndromes, referred over a 5-year period (2011-2016) to the Child Neurology Department of Dokuz Eylül University, Izmir, Turkey. In addition, PubMed was searched for published cases of genetically proven congenital myasthenic syndromes originating from Turkey. In total, the authors identified 43 (8 new patients, 35 recently published patients) cases. Defects in the acetylcholine receptor (n = 15; 35%) were the most common type, followed by synaptic basal-lamina associated (n = 14; 33%) and presynaptic syndromes (n = 10; 23%). The authors had only 3 cases (7%) who had defects in endplate development. One patient had mutation GFPT1 gene (n = 1; 2%). Knowledge on congenital myasthenic syndromes and related genes in Turkey will lead to prompt diagnosis and treatment of these rare neuromuscular disorders.


Assuntos
Síndromes Miastênicas Congênitas/epidemiologia , Síndromes Miastênicas Congênitas/genética , Acetilcolinesterase/genética , Adolescente , Criança , Pré-Escolar , Colinesterases/genética , Colágeno/genética , Feminino , Glutamina-Frutose-6-Fosfato Transaminase (Isomerizante)/genética , Humanos , Lactente , Estudos Longitudinais , Masculino , Proteínas Musculares/genética , Mutação/genética , Síndromes Miastênicas Congênitas/diagnóstico , Miosinas/genética , PubMed/estatística & dados numéricos , Receptores Proteína Tirosina Quinases/genética , Receptores Colinérgicos/genética , Receptores Nicotínicos/genética , Estudos Retrospectivos , Turquia/epidemiologia , Sequenciamento do Exoma
11.
Eur J Obstet Gynecol Reprod Biol ; 100(2): 143-5, 2002 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-11750953

RESUMO

OBJECTIVE: To assess the measurement of plasma tumor necrosis factor alpha (TNF-alpha) as a predictive test for the development of preeclampsia. STUDY DESIGN: One-hundred and twenty pregnant women were included in this prospective longitudinal study. Maternal plasma TNF-alpha levels were measured in the first, second and third trimesters by immunosorbent assay (ELISA). Preeclamptic patients were determined prospectively. Preeclamptic and normotensive patients were compared to assess the predictive value of TNF-alpha in preeclampsia. RESULTS: Ninety patients completed the study. Preeclampsia developed in 10 out of 90 patients (11.1%). Plasma TNF-alpha levels were higher in preeclamptic patients than normotensive women in the third trimester of pregnancy (P<0.05). No difference was found between groups in the first and second trimesters (P>0.05). With the use of the receiver operating characteristics (ROC) 10.13 pg/ml was found to be a cut-off value predictive for the development of preeclampsia in the third trimester, but cut-off values in the first and second trimesters could not be found. The specificity, sensitivity, positive and negative predictive values were 90, 78, 33 and 98%, respectively. CONCLUSION: This study shows that plasma TNF-alpha levels are not useful as a specific marker for prediction of preeclampsia in the first and second trimesters. But determination of TNF-alpha may be useful for the prediction in the early third trimester.


Assuntos
Pré-Eclâmpsia/sangue , Fator de Necrose Tumoral alfa/análise , Adulto , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Estudos Longitudinais , Razão de Chances , Gravidez , Estudos Prospectivos , Fatores de Risco , Sensibilidade e Especificidade
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