Effectiveness and safety of monoclonal antibodies against amyloid-beta placebo in mild or moderate Alzheimer's disease.

Backgrounds And Objectives: Currently, no consensus has been reached on the therapeutic implications of monoclonal antibodies against amyloid-beta (Aβ) in Alzheimer's disease (AD). This study aimed to examine the effectiveness and safety of monoclonal antibodies against Aβ as a whole and also to determine the superiority of individual antibodies placebo in mild or moderate AD.

Methods: Literature retrieval, article selection, and data abstraction were performed independently and in duplicate.

SPECT findings on neuropsychiatric symptoms caused by nitrous oxide abuse.

Objective: The aim of the study was to investigate the clinical, neuropsychological, and regional cerebral blood flow (rCBF) perfusion changes in patients with neuropsychiatric symptoms caused by nitrous oxide (NO) abuse.

Methods: A total of 16 patients with neuropsychiatric symptoms caused by nitrous oxide abuse were recruited for this study. The study was carried out in the withdrawal phase of NO abuse.

Clinical feature and sural biopsy study in nitrous oxide-induced peripheral neuropathy.

Objective: The objective was to analyze the clinical characteristics and pathological characteristics of sural biopsy in nitrous oxide (N2O) -induced peripheral neuropathy.

Methods: We recruited 18 patients with N2O abuse-induced neurological disorders and reported their demographic data, clinical manifestations, laboratory examinations, and nerve conduction studies. Seven patients underwent sural nerve biopsy pathologic examination.

Characterization of genotype-phenotype correlation with MORC2 mutated Axonal Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Background: Charcot-Marie-Tooth (CMT) disease is an exciting field of study, with a growing number of causal genes and an expanding phenotypic spectrum. The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of CMT2Z in 2016. We aimed to describe the phenotypic-genetic spectrum of MORC2-related diseases in the Chinese population.

Area Postrema Syndrome: A Rare Feature of Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids.

The area postrema syndrome (APS) is a unique diagnostic criterion for neuromyelitis optica spectrum disorders (NMOSD). However, APS has rarely been reported in cases of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). A 36-year-old woman presented with APS and clinical features of diffuse central nervous system involvement during the early stage of the disease.

Reduced sarcolemmal aquaporin 4 expression can support the differential diagnosis of neuromyelitis optica spectrum disorders.

This study aimed to investigate the underlying pathological muscle damage in neuromyelitis optica spectrum disorder (NMOSD) patients without muscular symptoms. We prospectively enrolled 15 patients with aquaporin 4 (AQP4) antibody seropositive NMOSD and 16 patients with non-NMOSD diseases as a control group. Biceps biopsy samples from 18 patients were examined.

[Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features].

Objective: To explore the clinical, neuropathological and genetic characteristics of a patient with Perrault syndrome caused by TWNK mutation.

Methods: Potential variation of the TWNK gene was detected by next-generation sequencing (NGS) and verified by Sanger sequencing.

Results: The patient has featured primary amenorrhoea and progressive sensorineural hearing loss since childhood.

Curcumin Attenuates Beta-Amyloid-Induced Neuroinflammation via Activation of Peroxisome Proliferator-Activated Receptor-Gamma Function in a Rat Model of Alzheimer's Disease.

Neuroinflammation is known to have a pivotal role in the pathogenesis of Alzheimer's disease (AD), and curcumin has been reported to have therapeutical effects on AD because of its anti-inflammatory effects. Curcumin is not only a potent PPARγ agonist, but also has neuroprotective effects on cerebral ischemic injury. However, whether PPARγ activated by curcumin is responsible for the anti-neuroinflammation and neuroprotection on AD remains unclear, and needs to be further investigated.

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Objective: To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants.

Methods: A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient samples.

[Carpal tunnel syndrome with cervical spondylotic radiculopathy: a clinical and electrophysiological study].

Objective: To study the clinical and electrophysiological characteristics of carpal tunnel syndrome (CTS) with cervical spondylotic radiculopathy (CSR) and simple-CTS, and compare the effect of double crush with that of simple entrapment on a nerve and investigate the association between CTS and CSR.

Method: From January 2011 to August 2014, clinical data from 96 patients with double crush syndrome (DCS, CTS with CSR) and 165 patients with simple-CTS were examined, and the electrophysiologic parameters of median nerve in patients with DCS were compared with that in patients with simple-CTS.

Results: In 96 patients with DCS, most of them were female; neck and shoulder pain or simultaneously accompanied by numbness and pain of upper limb was observed in 34 patients, upper limb symptoms and hand weakness and muscle atrophy were observed in the other 62 patients, 124 median nerves with abnormal conduction were found in these DCS patients, including 68 cases with unilateral abnormalities and 28 cases with bilateral abnormalities.

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.

Objectives: To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay.

Methods: We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We also evaluated pathogenicity of identified mutations for phenotypic recovery in a DAG1-knockout haploid human cell line transfected with mutated DAG1 complementary DNA.

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.

Oculopharyngodistal myopathy is a rare type of hereditary myopathy characterised pathologically by the changes of muscular dystrophy with rimmed vacuoles and intra-muscular tubulofilamentous inclusions. Here we report the clinical and myopathological changes in a Chinese family with oculopharyngodistal myopathy. The proband showed external ophthalmoplegia, dysphagia, distal weakness and atrophy in all extremities.

Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.