解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract:BACKGROUND:Hereditary spastic paraplegia is a neurodegenerative phenotype characterized by a progressive loss of corticospinal motor tract function. In a majority of affected individuals the pathogenesis remains undetermined. METHODS:We identified a series of patients with a phenotype of nonsyndromic spastic paraplegi...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1389161
更新日期:2014-12-01 00:00:00
abstract::In recent years, intrathecal baclofen (ITB) has attained an important role in the treatment of severe spasticity and dystonia in children. There are principal differences between the use of ITB in children and its use in neurology and oncology in adults. Here, we present a consensus report on best practice for the tre...
journal_title:Neuropediatrics
pub_type: 杂志文章,多中心研究
doi:10.1055/s-0034-1387818
更新日期:2014-10-01 00:00:00
abstract::The lumbar puncture and cerebrospinal fluid (CSF) opening pressure (OP) in children remains an essential diagnostic test for children with suspected elevated intracranial pressure. Recent prospective data have revised the normative CSF OP values and described how clinical variables such as age, depth of sedation, and ...
journal_title:Neuropediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1055/s-0034-1376202
更新日期:2014-08-01 00:00:00
abstract:AIM: Attention deficit with or without hyperactivity (AD[H]D) is a common comorbidity of neurofibromatosis type 1 (NF 1). We tested the hypothesis that permanent medication with methylphenidate can improve cognitive functioning in children with NF 1 and comorbid AD(H)D. PATIENTS AND METHOD: We retrospectively analyzed...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1368117
更新日期:2014-08-01 00:00:00
abstract::Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1372302
更新日期:2014-08-01 00:00:00
abstract:OBJECTIVE:With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. PATIENTS AND METHODS:A total of 15 patients with LCC wer...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1364180
更新日期:2014-06-01 00:00:00
abstract::Juvenile myasthenia gravis (JMG) is an autoimmune disorder of neuromuscular transmission caused by production of antibodies against components of the postsynaptic membrane of the neuromuscular junction. Ethnicity has influence on incidence, clinical presentation, and the course of the disease. The patients present wit...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1364181
更新日期:2014-04-01 00:00:00
abstract::Syringomyelia is an etiologically diverse affliction caused by disturbance of normal cerebrospinal fluid flow dynamics. An evaluation by comprehensive imaging, using advanced three-dimensional constructive interference in steady state and four-dimensional phase contrast imaging techniques, should be focused on finding...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0033-1361921
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). MATERIALS AND METHODS:Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac mu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0033-1336017
更新日期:2013-10-01 00:00:00
abstract::The aims of this study were to suggest the rate of primary progressive (PP) subtype of pediatric onset multiple sclerosis (MS) in Isfahan, Iran, and describe its clinical and paraclinical features. The data of patients were retrieved from Isfahan MS Society (IMSS) database from April 2003 to August 2011. Among 3,843 M...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1329614
更新日期:2013-06-01 00:00:00
abstract::Dravet syndrome presents with generalized and unilateral clonic or clonic-tonic seizures that occur during the first year of life, followed by severe epilepsy. Prolonged seizures are often provoked by fever and usually followed by recovery of the previous condition. We describe the case of a 13-month-old girl with Dra...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1327772
更新日期:2013-06-01 00:00:00
abstract:PURPOSE:The term clinical functional magnetic resonance imaging (fMRI) describes an examination with direct clinical impact on the patient. Interpretation of clinical fMRI especially in children, however, is often difficult due to suboptimal data quality. The current gold standard is standardized visual evaluation. To ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1324731
更新日期:2012-10-01 00:00:00
abstract::This study aimed to investigate whether antenatal taurine can reduce neuronal apoptosis in fetal rat brains with intrauterine growth restriction (IUGR) and its possible mechanisms. A total of 15 pregnant rats were randomly divided into the following three groups: control, IUGR, and IUGR+ antenatal taurine supplements....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0032-1324730
更新日期:2012-10-01 00:00:00
abstract::Congenital myasthenic syndromes (CMS) are rare genetically and clinically heterogeneous disorders characterized by an impaired neuromuscular transmission. Exact prevalence data are not available, approximately 2000 to 3000 patients worldwide have been diagnosed on a molecular level; mutations in 14 different genes are...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1323850
更新日期:2012-08-01 00:00:00
abstract::We report on a child with Chudley-McCullough syndrome and re-evaluate the spectrum of imaging findings (in 15 previously reported patients) which appear to be variable and, to some extent, ambiguous in the literature. Magnetic resonance imaging of the brain revealed asymmetric colpocephaly with agenesis of the spleniu...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0032-1307451
更新日期:2012-02-01 00:00:00
abstract::This study aimed to investigate the global oxidant/antioxidant status of infants with perinatal asphyxia and its relation to neurological outcomes. A prospective controlled study including term infants with perinatal asphyxia was conducted. Blood samples were obtained from patients and controls at 6-24 h and on the 3r...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1295480
更新日期:2011-12-01 00:00:00
abstract::Alpers-Huttenlocher syndrome (AHS) is a very rare autosomal recessive disorder. AHS is caused by homozygous or compound heterozygous mutations in the nuclear gene encoding mitochondrial DNA polymerase gamma (POLG, chromosome 15q25). Most patients become symptomatic before the age of 2 years. We report 3 patients who w...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1287812
更新日期:2011-10-01 00:00:00
abstract::An 11-year-old boy with attention deficit/hyperactivity disorder (ADHD) presented with visual hallucinations several years after starting methylphenidate (MPH). The hallucinations resolved upon discontinuation of the drug. Reports of toxic hallucinosis during treatment with MPH are rare. Although the pathogenetic mech...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1275738
更新日期:2011-02-01 00:00:00
abstract::Tuberculous meningitis is uncommon in western countries and its outcome is poor when it is not diagnosed and treated in good time. Here, we present a case of febrile brain stroke revealing a tuberculous arachnoiditis in a 13-month-old infant living in a non-endemic country. Thanks to prompt specific antibiotherapy, th...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0031-1273706
更新日期:2010-12-01 00:00:00
abstract::Functional MRI mapping of language areas in children frequently employs a covert verb generation task. Because responses are not monitored, the relationship between fMRI activation and task performance is unknown. We compared fMRI activation during covert and overt verb generation to performance during the overt task....
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1267982
更新日期:2010-10-01 00:00:00
abstract::Stimulant-associated growth deficits in children with attention deficit hyperactivity disorder (ADHD) have long been a concern. We chose 146 school age children diagnosed with ADHD being treated with methylphenidate (MPH) and 29 drug-free ADHD children, and followed them up for 2-4 years. We recorded the changes in he...
journal_title:Neuropediatrics
pub_type: 临床试验,杂志文章
doi:10.1055/s-0030-1261893
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:Sleep is known to improve the yield of EEG recording in children but is often difficult to obtain. In order to evaluate the efficacy and to test the practicability of oral melatonin in obtaining sleep for EEG recording, we studied its use in 70 children. RESULTS:Sleep was obtained in 56 children (80%) with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1267920
更新日期:2010-08-01 00:00:00
abstract::The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents co...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1262841
更新日期:2010-06-01 00:00:00
abstract::This report describes a patient with Gaucher disease type II who developed severe rhabdomyolysis. We treated him successfully and measured various cytokine and chemokine levels sequentially to elucidate the pathophysiology of rhabdomyolysis. The serum levels of interleukin-6, -8, -10, granulocyte colony-stimulating fa...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1253425
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to investigate whether modified constraint-induced movement therapy (mCIMT) following a botulinum type A toxin (BoNT-A) injection enhances the effects of the BoNT-A injection into the spastic upper limb of children with hemiplegic cerebral palsy (CP). METHODS:A combined therapy with...
journal_title:Neuropediatrics
pub_type: 临床试验,杂志文章
doi:10.1055/s-0030-1252049
更新日期:2009-12-01 00:00:00
abstract::Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1246158
更新日期:2009-10-01 00:00:00
abstract::We here report a 13-year-old Marfan patient who suffered from severe, medication-resistant, intermittent headache, which was provoked when getting into an upright position and immediately relieved by lying down or after intravenous rehydration. The postural benefit and the sudden relief after intravenous hydration sug...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1243164
更新日期:2009-08-01 00:00:00
abstract::We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1237724
更新日期:2009-06-01 00:00:00
abstract:INTRODUCTION:Cerebrovascular changes are rarely discussed in patients with hemimegalencephaly. These alterations have previously been associated with epileptical activity. CASE:We report the case of a 36-week gestation neonate presenting with total right hemimegalencephaly, as demonstrated by a magnetic resonance imag...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1237721
更新日期:2009-04-01 00:00:00
abstract::Ataxia with oculomotor apraxia type 2 (AOA2), a neurodegenerative disorder with juvenile to adolescent onset is caused by mutations within the SENATAXIN gene ( SETX). We performed molecular analyses in six patients showing clinically an AOA2 phenotype and moderate to significant elevated serum alpha-fetoprotein levels...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1214424
更新日期:2008-12-01 00:00:00
abstract::Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1128152
更新日期:2008-10-01 00:00:00
abstract::Gene expression in the central nervous system is highly region-specific. We tested the hypothesis that certain developmental biomarkers could be detected in the whole brain or in cortical, subcortical or cerebellar structures. Brain gene expressions of male and female rats at birth, 3 days, and 10 days of age were mea...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0028-1105923
更新日期:2008-08-01 00:00:00
abstract::Mutations in the gene for the ganglioside-induced-differentiation-associated-protein 1 on 8q21 were recently reported to cause autosomal recessive Charcot-Marie-Tooth sensorimotor neuropathy. We report a detailed clinical, electrophysiological and genetic study of two young patients harbouring missense GDAP1 mutations...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0028-1085467
更新日期:2008-06-01 00:00:00
abstract::A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1081218
更新日期:2008-04-01 00:00:00
abstract::Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1077085
更新日期:2008-02-01 00:00:00
abstract::A 1-year and 11-month-old female infant with bilateral lesions of the thalamus, basal ganglia, cerebellar and brainstem disease died from heart failure 9 days after being administered a measles vaccination. She had a high fever, hypocarnitinemic and non-ketotic hypoglycemia, serum levels of total carnitine 7.4 micromo...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1062714
更新日期:2007-12-01 00:00:00
abstract::There are several causes of gingival hyperplasia and one of the most well-known is drug-induced gingival enlargement. Nevertheless, causes of congenital gingival enlargement include only hereditary and metabolic disorders. Only one case of drug-induced congenital gingival hyperplasia has been reported. We present the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-985901
更新日期:2007-10-01 00:00:00
abstract::A newborn female born at term was admitted at 28 hours for seizures and generalized hypotonia. Cerebral ultrasound showed a right temporal echogenic lesion confirmed on MRI and thought to be secondary to thrombosis of the vein of Labbé. The EEG showed epileptic discharges over the right temporal region. Extensive thro...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-991149
更新日期:2007-08-01 00:00:00
abstract::Melatonin ( N-acetyl-5-methoxytryptamine, aMT) is an indoleamine produced by several organs and tissues including the pineal gland. Melatonin (aMT) modulates the activity of the brain, mainly acting on both GABA and glutamate receptors. Previous studies have shown the participation of melatonin in the control of convu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-985138
更新日期:2007-06-01 00:00:00
abstract::Familial spinal neurofibromatosis (FSNF) is a rare localized subtype of NF1 which shows neurological symptomatology during adult life. Only a few families have been reported to date. We describe a family in which three members in two generations, mother, son and daughter, were affected. The patients, aged 48, 22 and 1...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-985136
更新日期:2007-04-01 00:00:00