Be in the Digital Room Where it Happens, Part I: Tweeting & Technology for Career Development [0.03%]
紧跟数字化趋势，推动职业发展：第一部分：利用推特及其他技术推动职业生涯
Jaclyn M Martindale,Jessica Goldstein,Kathryn Xixis et al.
Jaclyn M Martindale et al.
Social media has become a part of everyday life. It has changed the way we obtain and distribute information, connect, and interact with others. As the number of platforms and users grow, medical professionals have learned the value social ...
NTRK1-related Hereditary Sensory and Autonomic Neuropathy Type 4: The Role of the Histamine Challenge Test [0.03%]
与NTRK1相关的遗传性感觉自主神经病4型：组胺激发试验的作用
Amytice Mirchi,Julie Richer,Maryam Oskoui et al.
Amytice Mirchi et al.
Hereditary sensory and autonomic neuropathies (HSAN) are rare, genetically inherited disorders characterized by impaired unmyelinated nerve fiber function. Here we report a patient with self-mutilation behavior and decreased response to pai...
Lindsay Schleifer,Sarah Vogel,Anirudh Arun et al.
Lindsay Schleifer et al.
Arterial thoracic outlet syndrome is a rare condition characterized by compression of the subclavian artery, often with post-stenotic aneurysm formation. Artery-to-artery embolic strokes related to thoracic outlet syndrome have been reporte...
Faciobrachial Dystonic Seizures as a Sign of Relapse in a Child with LGI-1 Encephalitis [0.03%]
LGI-1脑炎患儿复发的面臂肌张力障碍性发作表现
Wajd Alotaibi,Shahid Bashir,Ali Mir
Wajd Alotaibi
We report an interesting case of a young girl with LGI1-antibody encephalitis who presented at 7 years old with very frequent seizures and severe neurocognitive decline. She responded very well to high dose corticosteroids and intravenous i...
Post-Concussive Orthostatic Tachycardia is Distinct from Postural Orthostatic Tachycardia Syndrome (POTS) in Children and Adolescents [0.03%]
儿童和青少年中脑震荡后直立性心动过速不同于姿势性心动过速综合征(POTS)
Rachel Pearson,Christopher A Sheridan,Kaylee Kang et al.
Rachel Pearson et al.
Background: Orthostatic tachycardia (OT) affects some patients after concussion/mild traumatic brain injury (mTBI). In this study, we sought to identify the factors associated with increased risk for OT in patients with mTBI. Methods: We co...
Meha Joshi,Sanuri Gunawardena,Ajay Goenka et al.
Meha Joshi et al.
Introduction: Lymphocytic hypophysitis (LH) is a rare autoimmune disorder involving the destruction of the anterior pituitary due to lymphocytic infiltration. The disease shows a female predominance, commonly affecting women during late pre...
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene [0.03%]
FKRP基因新型复合插入/重复变异导致的 limb-girdle肌营养不良症9型
Erin Willis,Steven A Moore,Mary O Cox et al.
Erin Willis et al.
Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein (FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. M...
Difficulties in Diagnosis Acute Necrotizing Encephalopathy of Childhood: A Case Report [0.03%]
儿童急性坏死性脑病的诊断困难：一例报告
Setyo Handryastuti,Sisca Silvana,Reyhan Eddy Yunus et al.
Setyo Handryastuti et al.
Acute necrotizing encephalopathy of childhood (ANEC) is a rare condition of encephalopathy which commonly occurs in healthy children. This case report will discuss the diagnostic approach in a female child, three years old, with neurologic ...
Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations [0.03%]
两例CACNA1A突变导致的早发性卒中和难治性癫痫患者
Kristen N Bolte,Melissa Assaf,Tamara Zach et al.
Kristen N Bolte et al.
Background: Mutations in the CACNA1A gene have been associated phenotypically with Familial Hemiplegic Migraine Type 1, Episodic Ataxia Type 2, Idiopathic Generalized Epilepsy, and Developmental and Epileptic Encephalopathy 42. Only six cas...
A Novel Case of Idiopathic MGluR1 Encephalitis in a Pediatric Patient [0.03%]
儿科患者自身免疫性代谢型谷氨酸受体1脑炎1例报告
Erika Chandler,Nicole Arvantis,Bethanie Morgan
Erika Chandler
Metabotropic Glutamate Receptor 1 (mGluR1) encephalitis is a rare encephalitis characterized by ataxia, neuropsychiatric symptoms, dysarthria and cognitive impairment. This disease process has been described in several adult patients and ha...