Be in the Digital Room Where it Happens, Part II: Social Media for Neurology Educators [0.03%]
数字空间的发生地：神经病学教育者的社交媒体应用（二）
Jessica Goldstein,Jaclyn M Martindale,Catherine Albin et al.
Jessica Goldstein et al.
Social media has changed the way we communicate and interact. Unsurprisingly, it has also changed how we teach and learn. Younger generations of learners have transitioned from traditional educational sources to digital ones. Medical educat...
Tacrolimus Induced Leukoencephalopathy and Stroke-Like Symptoms: Case Report [0.03%]
他克莫司诱导的脑白质病及类似卒中的症状：个例报告
Kelly M Dopke,Nader El Seblani,Katherine Mercer et al.
Kelly M Dopke et al.
A 17-year-old female with sickle cell disease status post a recent stem cell transplant and on tacrolimus developed an acute expressive aphasia, dysphagia, and drooling. Brain MRI revealed diffuse restricted diffusion involving the bilatera...
Taylor Elliott,Andrew J Gienapp,James W Wheless
Taylor Elliott
Introduction: Despite US FDA approval of cannabidiol (CBD) liquid (Epidiolex®), patients with epilepsy still supplement prescription treatments with dispensary CBD. This study aimed to evaluate therapeutic effectiveness of dispensary CBD. ...
SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report [0.03%]
SCN2A相关性发作性和持续性小脑萎缩性共济失调：1例报告
Maeve Murray,Jaclyn M Martindale,Scott I Otallah
Maeve Murray
SCN2A, a gene that codes for a sodium channel highly expressed in the cerebellum, has been linked to a heterogeneous phenotype, including episodic ataxia (EA) and epilepsy, among other symptoms1. Given the rarity of SCN2A-associated EA and ...
Symptoms of Cerebrospinal Shunt Malfunction in Young Children: A National Caregiver Survey [0.03%]
一项国家级照护者调查：儿童脑脊液分流障碍的症状
Rebecca A Dorner,Monica E Lemmon,Turaj Vazifedan et al.
Rebecca A Dorner et al.
Objective: This study aimed to describe shunt malfunction symptoms in children ≤5 years old. Results: In a national survey of 228 caregivers, vomiting (23.1%), irritability (20.8%), and sleepiness (17.2%) were the most frequent symptoms of...
Frontonasal Dysplasia: A Diagnostic Challenge with Fetal MRI in Twin Pregnancy [0.03%]
胎儿双胎妊娠前鼻发育不良的磁共振诊断病例报告
Akash Virupakshaiah,Sara Reis Teixeira,Susan Sotardi et al.
Akash Virupakshaiah et al.
Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse ...
Methods for Detecting Abnormal Ventilation in Children - the Case Study of 13-Years old Pitt-Hopkins Girl [0.03%]
用于检测儿童异常呼吸的方法——以13岁Pitt-Hopkins女孩为例的研究
Pekka Nokelainen,Jose-Maria Perez-Macias,Sari-Leena Himanen et al.
Pekka Nokelainen et al.
We present contactless technology measuring abnormal ventilation and compare it with polysomnography (PSG). A 13-years old girl with Pitt-Hopkins syndrome presented hyperpnoea periods with apneic spells. The PSG was conducted simultaneously...
Praveen Kumar Ramani,Kindann Fawcett,Debra Guntrum et al.
Praveen Kumar Ramani et al.
Dystrophinopathies cover a spectrum of X-linked muscle disorders including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and cardiomyopathy due to pathogenic variants in the DMD gene. Neuropsychiatric manifestations oc...
Autoantibodies to a Nodal Isoform of Neurofascin in Pediatric Chronic Inflammatory Demyelinating Polyneuropathy [0.03%]
儿童慢性炎症性脱髓鞘多发性神经根神经病中神经原纤维素Nodal变体自身抗体阳性
Eline Chauvet,Geraldine Blanchard Rohner,Véroniqu Manel et al.
Eline Chauvet et al.
Pediatric chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an acquired immune-mediated disorder of the peripheral nervous system with a number of diagnostic pitfalls. A subset of treatment-resistant CIDP adult patients ha...
A Case of ALG6-CDG with Explosive Onset of Intractable Epilepsy During Infancy [0.03%]
一例以婴儿期难治性癫痫急性起病为特征的ALG6-CDG病例报告
Daniel James Clark,Thomas Murray,Michael Drees et al.
Daniel James Clark et al.
ALG6-CDG is a rare, but second most common, type 1 congenital disorder of glycosylation (CDG) caused by a defect in the α-1-3-glucosyltransferase (ALG6) enzyme in the N-glycan assembly pathway. Many mutations have been identified and inher...