Assessment of Cerebral Microvascular Development in Preterm Neonates Using Ultrafast Power Doppler Imaging [0.03%]
采用超快能量多普勒成像评估早产儿脑微血管发育情况
Lijie Huang,Jinfang Yuan,Xingyue Wei et al.
Lijie Huang et al.
Purpose: The incidence of preterm birth is reported as more than 10% in 2020 all over the world, and the disability and mortality rate are high due to incomplete development. The microvascular developments of neonates wit...
Clinical Trial
Neuropediatrics. 2026 Jul 21. DOI:10.1055/a-2903-9381 2026
Deep Intronic NPC1 Variants in Niemann-Pick Disease Type C: A Pediatric Case Report and Systematic Review [0.03%]
Niemann-Pick病C型深度内含子NPC1变异物：一例儿科病例报告及系统性回顾
Ayca Burcu Kahraman,Ayberk Zengin,Kubra Yuksel-Bican et al.
Ayca Burcu Kahraman et al.
We report a 16-year-old girl with progressive ataxia, gaze palsy, and psychotic symptoms suggestive of Niemann-Pick disease type C (NPC). Despite strong clinical and biochemical evidence, including elevated N-palmitoyl-O-phosphocholine-seri...
Primary Headache in Children: Clinical Characteristics and Impact on School Functioning in a Low-Resource Country [0.03%]
儿童原发性头痛的临床特征及其对学校功能的影响——来自低资源国家的研究
Amal Abu Libdeh,Lara Alsubehat,Nada Tabbalat et al.
Amal Abu Libdeh et al.
Background: Primary headaches in children impair daily functioning, yet data from Jordan, particularly regarding their effect on school functioning, have not been systematically evaluated. ...
Prolonged Episodes of Paroxysmal Exertion-Induced Dystonia in Glut1 Deficiency Syndrome [0.03%]
GLUT1缺乏综合征的长期运动诱发性阵发性肌张力不全发作
Joerg Klepper,Lucia Kiesel,Eva Runkel
Joerg Klepper
Glucose transporter type I (Glut1) deficiency syndrome (Glut1DS) is associated with paroxysmal exertion-induced dystonia (PED). Episodes are published as brief, lasting 20 to 30 minutes. Increasingly, Glut1DS patients report prolonged PED o...
Characteristics and outcomes of Guillain-Barré syndrome in children at Infectious Diseases - Neurology Department, Children's Hospital 1, Ho Chi Minh City [0.03%]
胡志明市第一儿童医院感染性疾病-神经病学部门儿童吉兰-巴雷综合征的临床特征及预后分析
Tuan Nguyen Minh,Truc Tran Thanh,Khanh Ly Hien et al.
Tuan Nguyen Minh et al.
Background: Guillain-Barré syndrome (GBS) is one of the leading causes of acute paralysis in children. Our aim was to describe the clinical characteristics, paraclinical features, and recovery outcomes of children with G...
Clinical, Radiological, and Prognostic Features of Pediatric Clinically Isolated Syndrome and Risk of Conversion to Multiple Sclerosis: A Single-center Cohort Study [0.03%]
儿科临床孤立综合征的临床、影像和预后特征及其转化为多发性硬化的风险：单中心队列研究
Çisil Çerçi Kubur,Beyhan Cengiz Özyurt,Sibğatullah Ali Orak et al.
Çisil Çerçi Kubur et al.
Background: Pediatric clinically isolated syndrome (CIS) is the first inflammatory demyelinating event of the central nervous system and may progress to multiple sclerosis (MS). Data on relapse patterns and predictors of ...
Gait Variability in Children with Periventricular Leukomalacia and Perinatal Stroke: A Comparison of Between-Subject Variability [0.03%]
围产期脑白质软化和卒中儿童步态变异性的组间差异性分析
Nathalie Alexander,Melissa Köckemann,Christoph Tobias Kuenzle et al.
Nathalie Alexander et al.
Aim: This study aimed to (1) compare gait patterns between children with periventricular leukomalacia (PVL) and those with perinatal stroke and (2) assess between-subject gait variability within each group to quantify dif...
Damjan Osredkar
Damjan Osredkar
Successful treatment of epileptic spasms with perampanel in a patient with Menkes disease caused by a novel splice variant in intron of ATP7A [0.03%]
新型ATP7A内含子剪接变异引起的门克斯病所致癫痫性痉挛成功应用佩美拉尼恩治疗1例报告
Hiroaki Yoshida,Hidehito Kondo,Naoko Yano et al.
Hiroaki Yoshida et al.
Genetic variants in ATP7A are associated with a spectrum of X-linked copper metabolism disorders. Menkes disease (MD) is the most severe form of ATP7A-related disorders, characterized by severe central nervous system degeneration and connec...
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy-DEE94 [0.03%]
通过基因组测序和光学基因组映射解构复杂染色体重排引起的CHD2改变在发育性和癫痫性脑病中的作用
Robin Wijngaard,Pinelopi Dragoumi,Kornelia Neveling et al.
Robin Wijngaard et al.
Abstract: Developmental and epileptic encephalopathy (DEE) is extremely heterogeneous and only 30 to 50% of affected individuals receive a diagnosis upon routine genetic diagnostics. We show that genome sequencing, comple...