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:AIM: Tonic tics (TTs) are a part of a clinical picture of Gilles de la Tourette syndrome (GTS) and manifest themselves as sustained and isometric contraction of a muscle group devoid of the movement effect or accompanied by only slight visible motion. The aim of this study was to evaluate the prevalence and phenomenolo...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1722689
更新日期:2021-01-14 00:00:00
abstract::Seizures are the most common neurological emergency in the neonates, and this age group has the highest incidence of seizures compared with any other period of life. The author provides a narrative review of recent advances in the genetics of neonatal epilepsies, new neonatal seizure classification system, diagnostics...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1721702
更新日期:2020-12-08 00:00:00
abstract:PURPOSE:Ketogenic diets (KDs) are used to treat epilepsies resistant to pharmacotherapy or some inborn errors of metabolism. For prolonged anesthesia, use of balanced electrolyte solutions (BESs) supplemented with 0.5% glucose has been advocated to maintain ketosis while preventing hypoglycemia. Unfortunately, there is...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1715634
更新日期:2020-12-01 00:00:00
abstract::Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disorder associated with typical clinical and imaging features such as bilateral symmetrical polymicrogyria, either exclusively or mainly affecting the perisylvian region of the brain. We present a girl with the typical clinical picture of a CBPS ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1710588
更新日期:2020-12-01 00:00:00
abstract::Nusinersen, an antisense oligonucleotide enhancing the production of the survival motor neuron protein, is approved for the treatment of spinal muscular atrophy (SMA) but requires repetitive lumbar punctures. Application via a subcutaneous port connected to a permanent intrathecal catheter has been proposed as an alte...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1715481
更新日期:2020-12-01 00:00:00
abstract::Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in ALDH18A1. Autosomal recessive ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1701671
更新日期:2020-08-01 00:00:00
abstract::Two patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained effic...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0040-1702226
更新日期:2020-08-01 00:00:00
abstract::Several de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10-18 years), focusin...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-3400988
更新日期:2020-04-01 00:00:00
abstract::Epilepsy is often associated with psychosocial comorbidity and this can be more disabling than the seizure activity. Still, these associated conditions are often underdiagnosed and therefore not sufficiently treated. We studied a large pediatric cohort of 371 patients with epilepsy to identify factors associated with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-3399529
更新日期:2020-04-01 00:00:00
abstract:AIM:The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. METHODS:Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly establishe...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-1698451
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:Leukoencephalopathy associated with dysmorphic features may be attributed to chromosomal abnormalities such as 17p13.3 microdeletion syndrome. CASE:A 19-year-old female patient was referred to our hospital for diagnostic evaluation of her leukoencephalopathy. She demonstrated moderate intellectual disabilit...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-1693972
更新日期:2019-12-01 00:00:00
abstract::Headaches in children and adolescents remain a very common problem with migraine being the most common headache disorder to present to medical attention. The approach to the treatment of migraine in children has consisted of treatment with acute and preventive medications, combined with lifestyle modification and beha...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1695785
更新日期:2019-12-01 00:00:00
abstract::Neonatal seizures are the most prevalent and distinctive sign of neurologic dysfunction in early life and pose an immense challenge for clinicians. Improvements in neonatal care have increased the survival rate of extremely premature infants, considerably changing the spectrum of underlying etiologies, and instigating...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1693149
更新日期:2019-10-01 00:00:00
abstract::B cell depletion with the anti-CD20-antibody rituximab is widely considered treatment of choice for long-term immunotherapy in aquaporin-4 (AQP4)-antibody positive neuromyelitis optica spectrum disorder (NMOSD). However, up to 30% of patients suffer from relapses despite complete B cell depletion. In these cases, the ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0039-1684004
更新日期:2019-06-01 00:00:00
abstract:PURPOSE:This study was aimed to assess the accurate incidence of renal stones in severely disabled children treated with topiramate (TPM). METHOD:We reviewed the medical records of severely disabled children with epilepsy under 15 years old who underwent radiological examinations to investigate urinary stones. The stu...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1676287
更新日期:2019-06-01 00:00:00
abstract::Intracerebral hemorrhage (ICH) is the most frequent complication in postnatal development of preterm infants. The purpose of the present work is the statistical evaluation of seven standard paraclinical parameters and their association to the development of ICH. Clinical records of 265 preterm infants with gestational...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1677515
更新日期:2019-04-01 00:00:00
abstract::Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving a tumor. However, tumor incidence in anti-NMDARe in children is much lower. Herpes simplex virus-induced anti-NMDARe has been well-described; however, findings on Japane...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1675607
更新日期:2019-04-01 00:00:00
abstract::Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-lik...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1676053
更新日期:2019-02-01 00:00:00
abstract:: ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1675237
更新日期:2019-02-01 00:00:00
abstract:: ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1669924
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVE:This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging. METHODS:We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an ab...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0038-1645884
更新日期:2018-08-01 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an incidence of ∼1 in 4,000 live births. Neurofibromin, the gene product, is ubiquitously expressed at high levels in the nervous system and functions as a tumor suppressor. Haploinsufficiency of neurofibromin through mutation leads to an incr...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1620239
更新日期:2018-06-01 00:00:00
abstract::Alexander disease (AD) is a leukodystrophy caused by heterozygous mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Currently, de novo heterozygous missense mutations in the GFAP gene are identified in over 95% of patients with AD. However, patients with biopsy-proven AD have been reported in ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1608921
更新日期:2018-04-01 00:00:00
abstract::Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin def...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1621721
更新日期:2018-04-01 00:00:00
abstract::Thiamine metabolism dysfunction syndrome type 2 is also known by other terms including: "SCL19A3 gene defect," "biotin-responsive basal ganglia disease" (BBGD), and "biotin-thiamine-responsive basal ganglia disease" (BTBGD). The worldwide incidence and prevalence of this disorder are unknown, but the syndrome has prim...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1607191
更新日期:2018-04-01 00:00:00
abstract::Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those ind...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601858
更新日期:2017-12-01 00:00:00
abstract::Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601860
更新日期:2017-08-01 00:00:00
abstract::Lacosamide (LCM) due to no known drug interaction and the absence of metabolic enzyme induction is a good candidate for an add-on medication, especially in combination with lamotrigine, levetiracetam (LEV), oxcarbazepine, topiramate, and valproic acid (VPA). Here we report for the first time, to our knowledge, that LC...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1600112
更新日期:2017-06-01 00:00:00
abstract::Purpose In periventricular leukomalacia (PVL), apparent diffusion coefficient (ADC) reduction, normally shown as dark stripe in the peritrigonal (PT) white matter, may be incomplete. We assessed the PT dark stripe to differentiate between PVL patients and control subjects. Patients and Methods We reviewed the magnetic...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1597613
更新日期:2017-04-01 00:00:00
abstract::Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the fol...
journal_title:Neuropediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1055/s-0036-1588020
更新日期:2016-12-01 00:00:00
abstract::Aim For children with medical complexity, interdisciplinary treatment approaches are required to address the various aspects defined within the biopsychosocial model. Methods The present study identifies dimensions of the biopsychosocial model to generate a standardized visualized severity score for chronic neurologic...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1584195
更新日期:2016-08-01 00:00:00
abstract::Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1579633
更新日期:2016-06-01 00:00:00
abstract::Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1578798
更新日期:2016-06-01 00:00:00
abstract:OBJECTIVE:This study aims to describe complications related to ventricular catheter systems with subcutaneous reservoirs (VCSR) (such as Ommaya reservoirs) in pediatric patients with brain tumors. METHODS:Retrospective analysis of consecutive patients with a total of 31 VCSR treated at the Children's University Hospit...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1565271
更新日期:2015-12-01 00:00:00
abstract:OBJECTIVES:This study aims to evaluate the drawings effectiveness in childhood headache assessment. BACKGROUND:Headache is a common cause of pain in children. Although drawings have been used in childhood to recognize psychological insights and pain perception, they were rarely used for headache characterization. MET...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550147
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:This study aims to ascertain frequency of mutations in POLR3A or POLR3B, which are associated with 4H leukodystrophy, in a cohort of patients with unclassified hypomyelination. METHODS AND RESULTS:In a cohort of 22 patients with the magnetic resonance imaging (MRI) diagnosis of unclassified hypomyelination a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0035-1550148
更新日期:2015-06-01 00:00:00
abstract::Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease aw...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1550152
更新日期:2015-06-01 00:00:00
abstract::Activin A is a multifunctional growth and differentiation factor belonging to the transforming growth factor β (TGF-β) family. Growing evidence indicates its role as a neurotrophic factor and regulator of synaptic transmission as well as its functional importance in several types of cerebral injury. We recently descri...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1547345
更新日期:2015-04-01 00:00:00
abstract::We report the management of refractory status epilepticus (SE) by using continuous intravenous infusions of lidocaine in a previously healthy 15-year-old girl with a "catastrophic encephalopathy" in whom a diagnosis of febrile infection-related epilepsy syndrome was supposed. One week after a banal pharyngitis and fev...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0034-1389898
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Advanced modalities such as functional magnetic resonance imaging (MRI) and diffusion MR tractography offer in vivo information about brain networks and are therefore increasingly used for neurosurgical planning in children also. AIM:This study aims to study the application of routine and advanced tractogra...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1395346
更新日期:2015-02-01 00:00:00