Next-generation sequencing of the cerebrospinal fluid in the diagnosis of neurobrucellosis.

Background: Brucellosis is the most common zoonotic infection in the world. Brucellosis with nervous system involvement is known as 'neurobrucellosis' (NB). The diagnosis of NB is difficult because its clinical manifestations are non-specific and the sensitivity of routine culture tests is low.

Mechanism hypotheses for the electrophysiological manifestations of two cases of endplate acetylcholinesterase deficiency related congenital myasthenic syndrome.

Objective: To summarize the electrophysiological characteristics of two cases of endplate acetylcholinesterase deficiency (EAD) related congenital myasthenic syndrome (CMS) caused by COLQ mutation and to discuss the possible mechanism of these electrophysiological phenomena.

Methods: Electrophysiological examinations were conducted including nerve conduction studies, routine electromyography (EMG), repetitive nerve stimulation (RNS) and single fiber EMG (SFEMG). The ulnar nerve was also stimulated at 50 Hz followed by 0.

Systemic autoimmune diseases complicated with hydrocephalus: pathogenesis and management.

Systemic autoimmune diseases (SAIDs) represent a group of syndromes involving at least two organ systems. Classical SAIDs include connective tissue diseases, vasculitis, and granulomatous diseases, many of which involve the nervous system and result in different neurological manifestations. Hydrocephalus can be a rare but lethal complication of various SAIDs, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), sarcoidosis, and primary vasculitis.

Resection of melanocytic nevi as a potential treatment of anti-NMDAR encephalitis patients without tumor: report of three cases.

The most common underlying tumor associated with anti-N-methyl D-aspartate-receptor (NMDAR) encephalitis is ovarian teratoma. Resection of the underlying tumor may decrease exposure of autoantigen and make for faster response of immunotherapy and less relapse frequency. Similar to teratoma, expression of NMDAR in human epidermal melanocytes was suspected recently.

A Retrospective Study of the Characteristics and Clinical Significance of A-Waves in Amyotrophic Lateral Sclerosis.

A-wave was observed in patients with motor neuron disease (1). However, data on the characteristics and clinical significance of A-waves in patients with amyotrophic lateral sclerosis (ALS) have been scarce. The F-wave studies of 83 patients with ALS and 63 normal participants which were conducted previously at the Department of Neurology in Peking Union Medical College Hospital were retrospectively reviewed to determine the occurrence of A-waves in ALS.

Cerebral Small Vessel Disease Burden Is Associated with Motor Performance of Lower and Upper Extremities in Community-Dwelling Populations.

To investigate the correlation between cerebral small vessel disease (CSVD) burden and motor performance of lower and upper extremities in community-dwelling populations. We performed a cross-sectional analysis on 770 participants enrolled in the Shunyi study, which is a population-based cohort study. CSVD burden, including white matter hyperintensities (WMH), lacunes, cerebral microbleeds (CMBs), perivascular spaces (PVS), and brain atrophy were measured using 3T magnetic resonance imaging.

Pulse Pressure Within 3 Months After Ischemic Stroke Is Associated With Long-Term Stroke Outcomes.

Background: Pulse pressure (PP) is a surrogate marker of arterial stiffness. Studies on baseline PP and long-term outcomes in patients with stroke are limited. We aimed to evaluate whether PP within 3 months after ischemic stroke was associated with long-term stroke outcomes.

Effectiveness of repetitive transcranial magnetic stimulation (rTMS) after acute stroke: A one-year longitudinal randomized trial.

Aims: To evaluate the effectiveness of repetitive transcranial magnetic stimulation (rTMS) on motor recovery after stroke using a prospective, double-blind, randomized, sham-controlled study.

Methods: Patients with unilateral subcortical infarction in the middle cerebral artery territory within 1 week after onset were enrolled. The patients were randomly divided into an rTMS treatment group and a sham group.

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.

Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare.

Resveratrol suppresses melanoma by inhibiting NF-κB/miR-221 and inducing TFG expression.

Resveratrol (Res) is a natural compound with anti-cancer effects. The goal of this study is to evaluate the suppression of Res in melanoma and investigate its relationship with miRNAs during this process. The in vitro and in vivo anti-cancer abilities of Res were evaluated using cellular assays and animal model.

Military service and the risk of amyotrophic lateral sclerosis: A meta-analysis.

To explore the relationship between the risk of amyotrophic lateral sclerosis and exposure to overall military service, we conducted a search of articles relevant to military service and the risk of ALS that used human subjects and were published in English through 20 May 2016, using Ovid Medline and Embase databases. Studies specially investigating the risk of ALS for Gulf war veterans were excluded. Quality of the cohort and case-control studies was assessed according to the Newcastle-Ottawa Scale (NOS).

Autoimmune encephalitis associated with vitiligo?

The autoimmune encephalitis can develop with or without an underlying tumor. For tumor-negative autoimmune encephalitis, the causes are still largely unknown. Here we presented three patients with autoimmune encephalitis accompanied with vitiligo.

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.

Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1) gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD.

Statistical analysis plan for the Head Position in Stroke Trial (HeadPoST): An international cluster cross-over randomized trial.

Background There is evidence to indicate that the lying flat head position increases cerebral blood flow and oxygenation in patients with acute ischemic stroke, but how these physiological effects translate into clinical outcomes is uncertain. The Head Position in Stroke Trial aims to determine the comparative effectiveness of lying flat (0°) compared to sitting up (≥30°) head positioning, initiated within 24 h of hospital admission for patients with acute stroke. Design An international, pragmatic, cluster-randomized, crossover, open, blinded outcome assessed clinical trial.

Correlation of Creatine Kinase Levels with Clinical Features and Survival in Amyotrophic Lateral Sclerosis.

Objective: To evaluate serum creatine kinase (CK) levels of amyotrophic lateral sclerosis (ALS) patients and to explore the relationship between CK levels and the clinical characteristics and survival prognosis of ALS patients.

Methods: We analyzed the CK levels of 185 ALS patients who underwent long-term follow-up. The relationship between CK levels and clinical features including sex, age, disease duration, site of onset, body mass index (BMI), serum creatinine (Cr), and spontaneous electromyographic activity was analyzed by univariate analysis and multiple linear regression.

Transmembrane helical interactions in the CFTR channel pore.

Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene affect CFTR protein biogenesis or its function as a chloride channel, resulting in dysregulation of epithelial fluid transport in the lung, pancreas and other organs in cystic fibrosis (CF). Development of pharmaceutical strategies to treat CF requires understanding of the mechanisms underlying channel function. However, incomplete 3D structural information on the unique ABC ion channel, CFTR, hinders elucidation of its functional mechanism and correction of cystic fibrosis causing mutants.

Amyotrophic Lateral Sclerosis and Myasthenia Gravis Overlap Syndrome: A Review of Two Cases and the Associated Literature.

Objective: To describe the characteristics of patients with amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) overlap syndrome and explore the relationship between the two diseases.

Methods: We conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria.

Multiple Sites Ultrasonography of Peripheral Nerves in Differentiating Charcot-Marie-Tooth Type 1A from Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Introduction: Multiple sites measurement of cross-sectional areas (CSA) by ultrasound was performed to differentiate Charcot-Marie-Tooth type 1A (CMT1A) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

Methods: Nine patients with CMT1A, 28 patients with CIDP, and 14 healthy controls (HC) were recruited prospectively. Consecutive ultrasonography scanning was performed from wrist to axilla on median and ulnar nerves.

Re-evaluate the Efficacy and Safety of Human Urinary Kallidinogenase (RESK): Protocol for an Open-Label, Single-Arm, Multicenter Phase IV Trial for the Treatment of Acute Ischemic Stroke in Chinese Patients.

Unlabelled: Acute ischemic stroke (AIS) is a major medical challenge in China. Thrombolytic drugs recommended for the treatment of AIS usually have a narrow time window. Human urinary kallidinogenase (HUK) was approved by the China Food and Drug Administration (CFDA) in 2005 for the treatment of mild to moderate AIS, and it is thus widely used in China.

Afterdischarges following M waves in patients with voltage-gated potassium channels antibodies.

Objective: To explore the correlation between afterdischarges in motor nerve conduction studies and clinical motor hyperexcitability in patients with voltage-gated potassium channels (VGKC) antibodies.

Methods: Six patients with positive serum antibodies to contactin-associated protein-like 2 (CASPR2) or/and leucine-rich glioma-inactivated protein 1 (LGI1) were recruited, including 5 with autoimmune encephalitis, and 1 with cramp-fasciculation syndrome. Electromyography (EMG), nerve conduction studies (NCS) and F waves were performed, and afterdischarges were assessed.

The Awaji criteria increases the diagnostic sensitivity of the revised El Escorial criteria for amyotrophic lateral sclerosis diagnosis in a Chinese population.

Objectives: The accurate and early diagnosis of amyotrophic lateral sclerosis (ALS) is important for extending the life expectancy of patients. However, previous studies that have assessed the diagnostic sensitivities of the Awaji criteria (AC) and the revised El Escorial criteria (rEEC) in patients with ALS have been inconsistent, most of them were consensual regarding the advantage of Awaji over conventional criteria. Our study sought to compare the roles of AC and rEEC in the diagnosis of ALS.

Neurofilaments in CSF As Diagnostic Biomarkers in Motor Neuron Disease: A Meta-Analysis.

Neurofilaments in CSF are promising biomarkers which might help in the diagnosis of motor neuron disease (MND). We aim to assess the diagnostic value of neurofilaments in CSF for MND. Pubmed, Emabase, and Web of Science were searched for relevant studies systematically.

Single-fiber EMG with concentric electrodes in lambert-eaton myasthenia.

Introduction: We analyzed jitter recordings made with concentric needle electrode (CNE) single-fiber electromyography (SFEMG) in Lambert-Eaton myasthenia (LEM).

Methods: Fifteen subjects diagnosed with LEM were studied using CNE-SFEMG in the extensor digitorum (ED) and tibialis anterior (TA) muscles. CNE-SFEMG in the ED and TA was also used to evaluate 12 and 10 healthy controls (HCs), respectively.

Regional variation in acute stroke care organisation.

Background: Few studies have assessed regional variation in the organisation of stroke services, particularly health care resourcing, presence of protocols and discharge planning. Our aim was to compare stroke care organisation within middle- (MIC) and high-income country (HIC) hospitals participating in the Head Position in Stroke Trial (HeadPoST).

Methods: HeadPoST is an on-going international multicenter crossover cluster-randomized trial of 'sitting-up' versus 'lying-flat' head positioning in acute stroke.