Caring for Gender Diverse Youth With Duchenne Muscular Dystrophy: A Multisite Case Series [0.03%]
关于杜氏肌营养不良症患者的性别照顾：一项多中心的病例系列研究
Carlos E Melendez Garcia,Usman A Ahmed,Aleah Pagan et al.
Carlos E Melendez Garcia et al.
Background: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular condition requiring long-term multidisciplinary care. Endocrine management often includes pubertal induction with testosterone for delayed puber...
Neurodevelopmental Symptoms Associated With MIRAGE Syndrome: A Case Report of Three Children and Review of the Literature [0.03%]
MIRAGE综合征相关神经发育症状的病例报告及文献复习
Emily Garavatti,Ryan H Peretz,Cristian Cruz et al.
Emily Garavatti et al.
Background: Background: MIRAGE syndrome, an acronym for myelodysplasia, infections, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy, is a multisystem genetic condition due to variants in ...
Human Metapneumovirus-Associated Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis: A Case Series [0.03%]
人元病毒相关的抗髓鞘少突胶质细胞糖蛋白脑脊髓炎：一系列病例研究
Georgios Ntolkeras,Rebekka Vogelgsang,Beth Rosen et al.
Georgios Ntolkeras et al.
Cognitive and Emotional Predictors of Health-Related Quality of Life in Pediatric-Onset Multiple Sclerosis [0.03%]
儿童期发病多发性硬化症健康相关生活质量的认知和情绪预测因素
Noa Gur,Ayal Rozenberg,Dan Hoofien et al.
Noa Gur et al.
Background: Pediatric-onset multiple sclerosis (POMS) affects children's health-related quality of life (HRQOL). This study aimed to examine the role of parents' and children's perspectives on HRQOL. Since identification ...
Electrographic Seizures Following Status Epilepticus With Fever in Critically Ill Children [0.03%]
危重病儿童发热性癫痫持续状态后电图发作
Takehiko Inui,Saki Uneoka,Miki Ikeda et al.
Takehiko Inui et al.
Background: Electrographic seizures (ESzs) following status epilepticus (SE) occur in 26-57% of critically ill children, typically within 48 hours of onset, and are associated with adverse neurological outcomes. Although ...
Management of Movement Disorders in Chronic Neurological Conditions and Palliative Care: A Retrospective Cohort Study [0.03%]
慢性神经系统疾病和姑息治疗中的运动障碍管理：回顾性队列研究
Jorge Luis Ramón-Gómez,Maria de Felipe,Sol Balsells et al.
Jorge Luis Ramón-Gómez et al.
Background: Movement disorders are prevalent in pediatric palliative care (PPC), complicating chronic neurological conditions. Comprehensive studies on their characteristics and management remain limited. This study chara...
Caregiver-Reported Epilepsy Management in Juvenile-Onset Huntington Disease [0.03%]
儿童期发病亨廷顿病的照料者报告的癫痫管理状况
Dawn B Lammert,Sanaya Shenoy,Jee A Bang et al.
Dawn B Lammert et al.
Background: Pediatric patients with Huntington disease (HD) present differently from adult-onset HD. In particular, the adult population experiences seizures at the same rate as the general public (∼1%), whereas seizures...
Audio Signal Assists in Rapid Review of Neonatal Electroencephalography Recordings [0.03%]
音频信号有助于快速回顾新生儿脑电图记录
David Wertheim,Anup C Kage,Ivone Lancoma-Malcolm et al.
David Wertheim et al.
Background: Reviewing the 'raw' electroencephalography (EEG) waveform when assessing suspected seizures on amplitude-integrated electroencephalography (aEEG) traces is important but can be time-consuming. Video and audio ...
Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia [0.03%]
KIF5C截短变异导致一种与KIF5C相关皮质发育不良不同的轻度疾病
Luise Kulosik,Ina Schanze,Pia Zacher et al.
Luise Kulosik et al.
Background: Distinct, recurrent missense variants in KIF5C have previously been described in a small number of patients with cortical dysplasia and severe intellectual disability. We aimed to further characterize the phen...