A Randomized, Double-Blind, Pilot Study of N-Acetylcysteine for Motor and Cognitive Symptoms in Youth With Neurofibromatosis Type 1 [0.03%]
N-乙酰半胱氨酸治疗NF1患儿肌张力障碍及认知损害的双盲随机临床试验
Donald L Gilbert,Lindsey E Aschbacher-Smith,Karlee Y Migneault et al.
Donald L Gilbert et al.
Background: Children and youth with neurofibromatosis type 1 (NF1) commonly experience motor, behavioral, and cognitive problems. Promising findings from an NF1 mouse model suggested that the antioxidant N-acetylcysteine ...
Navigating Humanism in Pediatric Neurology: A Global Survey of Attitudes, Challenges, and Cultural Influences [0.03%]
儿科神经病学中的人文主义：全球态度、挑战和文化影响调查
Rekha Mittal,Vishal Sondhi,Lauren Treat et al.
Rekha Mittal et al.
Background: Humanism in medicine emphasizes the value of compassionate care and dignity in the face of illness. This principle-is central to child neurology, where physicians manage complex, lifelong conditions affecting ...
Responsive Neurostimulation for Treatment of SCN1A-Associated Developmental and Epileptic Encephalopathies [0.03%]
SCN1A相关性发育性和癫痫性脑病治疗的响应性神经刺激疗法
Reilly Philliben,Erin Willis,Olivia Kim-McManus et al.
Reilly Philliben et al.
Background: Dravet syndrome and other SCN1A-associated epilepsies are developmental and epileptic encephalopathies with high seizure burden and frequent status epilepticus despite modern antiseizure therapies. Evidence fo...
Descriptive Epidemiology of Pediatric Autoimmune Diseases of the Central Nervous System in the Afro-Descendant Population of the Caribbean Island of Martinique [0.03%]
发生于加勒比马提尼克岛非洲裔人群中的中枢神经系统自身免疫性疾病的地方流行病学特点
Anael Tassin,Léa Lacofrette,Nicolas Garofalo Gomez et al.
Anael Tassin et al.
Background: The epidemiology of primary autoimmune diseases of the central nervous system is poorly described in Caribbean and Afro-descendant children. We studied the incidence, clinical and biological characteristics, i...
Paroxysmal Behavioral Disturbances, Seizures, and Periventricular White Matter Disease Mimicking Leukodystrophy in Niemann-Pick C: A Clinical Vignette [0.03%]
以假性脑白质营养不良为表现的尼曼-匹克C病的临床病例报告：行为异常发作、癫痫及脑室周围白质病变
Aliakbar Netterwala,Somdattaa Ray,Allen Johnson et al.
Aliakbar Netterwala et al.
Stroke Complicating Pediatric Bacterial Meningitis: A Retrospective Case-Controlled Cohort Analysis [0.03%]
儿童细菌性脑膜炎合并中风的病例对照队列分析
Margot Price,Sonja Farthing,Sharon H Wong et al.
Margot Price et al.
Background: Bacterial meningitis is a life-threatening illness, with the complication of stroke having the capacity to cause significant further harm. The purpose of this study was to examine the incidence, presentation, ...
Characterization of Safety Signals for Spinal Muscular Atrophy Treatments in Children Aged 0 to 3 Years Potential Safety Patterns for Further Investigation [0.03%]
脊髓性肌萎缩症患儿（0-3岁）治疗的安全信号特征及其潜在安全问题的进一步研究
Yupeng Zhang,Xinghang Tang,Li Chen
Yupeng Zhang
Background: Spinal muscular atrophy (SMA) has become a manageable chronic condition with the advent of three major disease-modifying therapies. However, real-world safety data in children aged 0-3 years remain limited. Th...
Amanda Stutman,Alexander Rompala,Emily Nice et al.
Amanda Stutman et al.
Background: Acute Flaccid Myelitis (AFM) is a rare disease with varying presentations and prognoses. Our 82-patient cohort with AFM provides a unique opportunity to characterize patterns of motor involvement and evaluate ...
Idiopathic Spinal Epidural Lipomatosis Presenting With Gait Regression and Acute Incontinence in a Toddler [0.03%]
特发性脊柱硬膜外脂质肉芽肿导致学步期儿童行走功能倒退和急性失禁病例报告
Deniz Menderes,Hasan Bulut
Deniz Menderes
Prenatal Diagnosis of Sepiapterin Reductase Deficiency: Lighting and Shadows of Early Treatment With L-DOPA/Carbidopa [0.03%]
四氢生物蝶呤缺陷病产前诊断：左旋多巴/卡比多巴早期治疗的利弊分析
Alessandro Iodice,Gianluca Esposito,Anna Bonato et al.
Alessandro Iodice et al.
Sepiapterin reductase deficiency (SPD) is an extremely rare autosomal recessive neurotransmitter disorder caused by mutations in the sepiapterin reductase gene. Clinical features include motor and cognitive manifestations, and L-DOPA/Carbid...