Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report [0.03%]
Efgartigimod联合糖皮质激素治疗HTLV-1相关脊髓病塔伊雷综合征(HAM/TSP)的病例报道
Jiahui Zeng,Wotu Tian,Jingran Yang et al.
Jiahui Zeng et al.
HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54-year-old female with decade-long, progressive HAM/TSP, previously refractory to rituxi...
The Diagnostic Value of Visual Evoked Potentials in Chronic Disorders of Consciousness [0.03%]
视觉诱发电位在慢性意识障碍诊断中的价值分析
Letizia Clementi,Francesca Giulia Magnani,Filippo Barbadoro et al.
Letizia Clementi et al.
Objective: In chronic disorders of consciousness (DOCs), the distinction between vegetative state/unresponsive wakefulness syndrome (VS/UWS) and minimally conscious state (MCS) is as crucial as it is challenging. Evoked p...
Diagnostic Challenge: The Case of a 70-Year-Old Man Who Presents With Progressive Vision Loss and Headaches [0.03%]
诊断挑战：一位进行性视力下降和头痛的70岁男性患者的病例
Malya Sahu,Rohini Samudralwar
Malya Sahu
A 70-year-old presents with 6 weeks of progressive bilateral vision loss and headaches. He was also recently treated for presumed sciatica. His exam on admission is notable for poor visual acuity (no light perception), optic nerve atrophy b...
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics [0.03%]
notch2神经节段重复扩张在帕金森病中的临床和神经影像学特征
Han-Lin Chiang,Kang-Yang Jih,Cheng-Tsung Hsiao et al.
Han-Lin Chiang et al.
Objective: Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have ...
Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure [0.03%]
多模式自主神经生物标志物可预测原发性自主神经功能衰竭的表型转换
S Koay,E Vichayanrat,F Bremner et al.
S Koay et al.
Background: Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy b...
Amyotrophic Lateral Sclerosis as a Multistep Process in the United States: A Population-Based Study [0.03%]
美国ALS的多阶段发病过程——基于人群的一项研究
Jasmine Berry,Jaime Raymond,Theodore Larson et al.
Jasmine Berry et al.
Background: Amyotrophic lateral sclerosis (ALS) is a fatal, progressive neurodegenerative disease that typically results in death within 3-5 years from symptom onset. However, little is known about the environmental expos...
Continuous Monitoring of Bladder Dysfunction in People With Multiple Sclerosis: Wearables for the Bladder [0.03%]
wearable监测器在多发性硬化患者膀胱功能障碍中的持续监护作用研究
Valerie J Block,Shane Poole,Leah McIntyre et al.
Valerie J Block et al.
Background: Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in-clinic evaluations or subjective patient reports, failing to capture rea...
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features [0.03%]
PLIN4基因重复突变导致常染色体显性空泡肌病并伴有肌膜异常
Laura Llansó,Igor Stevanovski,Germán Morís et al.
Laura Llansó et al.
Objective: We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. ...
A Novel C19orf47-AKT2 Chimeric RNA Generated by Cis-Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis [0.03%]
由顺向剪接相邻基因产生的新型C19orf47-AKT2嵌合RNA与胶质母细胞瘤预后相关
Zihan Wang,Bowen Ni,Kezhi Wu et al.
Zihan Wang et al.
Objective: Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatmen...
The Road Not Taken: Misclassifying an Anti-Seizure Medication as a Failure [0.03%]
错失的机遇：将抗癫痫药物误判为失败案例
Christopher N Henry,Daniel M Goldenholz
Christopher N Henry
Objective: To quantify how often anti-seizure medications (ASMs) appear ineffective yet provide benefit when considering seizure frequency (SF) variability. ...