Mangiferin activates the nuclear factor erythroid 2-related factor pathway to protect SOD1-G93A induced NSC-34 motor neurons from oxidative stress and apoptosis.

One of the main factors in the pathophysiology of amyotrophic lateral sclerosis is oxidative stress. Mangiferin (MF), a natural plant polyphenol, has anti-inflammatory and antioxidant effects. The aim of our study was to investigate the protective effects and mechanisms of MF in the hSOD1-G93A ALS cell model.

Different patterns of structural network impairments in two amyotrophic lateral sclerosis subtypes driven by F-fluorodeoxyglucose positron emission tomography/magnetic resonance hybrid imaging.

The structural network damages in amyotrophic lateral sclerosis patients are evident but contradictory due to the high heterogeneity of the disease. We hypothesized that patterns of structural network impairments would be different in amyotrophic lateral sclerosis subtypes by a data-driven method using F-fluorodeoxyglucose positron emission tomography/magnetic resonance hybrid imaging. The data of positron emission tomography, structural MRI and diffusion tensor imaging in fifty patients with amyotrophic lateral sclerosis and 23 healthy controls were collected by a F-fluorodeoxyglucose positron emission tomography/magnetic resonance hybrid.

Developing a novel immune infiltration-associated mitophagy prediction model for amyotrophic lateral sclerosis using bioinformatics strategies.

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, which leads to muscle weakness and eventual paralysis. Numerous studies have indicated that mitophagy and immune inflammation have a significant impact on the onset and advancement of ALS. Nevertheless, the possible diagnostic and prognostic significance of mitophagy-related genes associated with immune infiltration in ALS is uncertain.

Gender-specific association of uric acid and survival in sporadic amyotrophic lateral sclerosis patients.

Objective: To investigate the relationship between serum uric acid (UA) and survival in sporadic amyotrophic lateral sclerosis (sALS) patients.

Method: A total of 801 sporadic amyotrophic lateral sclerosis (sALS) patients fulfilled the revised El Escorial criteria were enrolled and followed up in the study. Baseline clinical data and laboratory variables including gender, age, age of onset, site of onset, disease duration, body mass index (BMI), uric acid (UA), creatinine (Cr), and creatine kinase (CK) were collected during enrollment.

Evaluating the causal association between microRNAs and amyotrophic lateral sclerosis.

Background: Currently, miRNAs are involved in the development of amyotrophic lateral sclerosis (ALS), and identifying circulating miRNAs that are causally associated with ALS risk as biomarkers is imperative.

Methods: We performed a two-sample Mendelian randomization study to evaluate the causal relationship between miRNAs and ALS. Our analysis was conducted using summary statistics from miRNA expression quantitative loci (eQTL) data of the Framingham Heart Study and ALS genome-wide association studies data.

Assessing the association between white matter lesions and Parkinson's disease.

Background: The association between white matter (WM) lesions and Parkinson's disease (PD) was not fully established. We therefore applied Mendelian randomization (MR) analyses to identify the causal effect between white matter lesions and PD.

Methods: We performed a bidirectional two-sample Mendelian randomization (MR) study to investigate the association between three WM phenotypes-white matter hyperintensities (WMH, N = 18,381), fractional anisotropy (FA, N = 17,673), and mean diffusivity (MD, N = 17,467)-with PD (N = 482,730) using summary statistics from genome-wide association studies (GWAS).

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.

To analyze the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease (KD). Clinical and imaging features of the patient were retrospectively reviewed. The patient, a 40-year-old female, presented adult-onset spastic paraplegia.

The protective role of mesencephalic astrocyte-derived neurotrophic factor in endoplasmic reticulum stress in RT4-D6P2T schwannoma sells with the S63del MPZ mutation.

Background: Endoplasmic reticulum stress (ERS) occurred in S63del mutant CMT1B mice model, and few drugs has been studied. Mesencephalic astrocyte-derived neurotrophic factor (MANF) can inhibit ERS. This study aimed at investigating the effect of MANF on ERS of RT4-D6P2T schwannoma cells with S63del MPZ Mutation.

Time of symptoms beyond the bulbar region predicts survival in bulbar onset amyotrophic lateral sclerosis.

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Spreading pattern and time interval of spreading are getting more and more attention. The aim of present study was to investigate spreading pattern in bulbar onset ALS patients and to explore the relationship between time interval of spreading and survival.

Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.

Objectives: To investigate the genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis (SALS) patients with TARDBP mutations, we carried out a genetic analysis in a cohort of 391 SALS patients and explored the clinical manifestations of patients with TARDBP variants.

Materials And Methods: The coding region of all five coding exons of TARDBP, exons 2-6, were sequenced for mutations in 391 Chinese SALS patients. The clinical features of patients with TARDBP mutations were described and compared with cases in literatures.

Mutation Screening of the Gene in a Large Chinese Cohort of Amyotrophic Lateral Sclerosis Patients.

Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease involving the upper and lower motor neurons of the spinal cord, brainstem, and cerebral cortex. At least 30 genes have been implicated in familial ALS (fALS) and sporadic ALS (sALS). Kaneb et al.

Screening for SH3TC2 variants in Charcot-Marie-Tooth disease in a cohort of Chinese patients.

Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth disease type 4C (CMT4C), characterized by inherited demyelinating peripheral neuropathy. CMT4C is a common form of CMT4/autosomal recessive (AR) CMT1. This study examined the SH3TC2 variants, investigated genotype-phenotype correlations and explored the frequency of CMT4C in Chinese patients.

Target-Catalyzed Assembly of Pyrene-Labeled Hairpins for Exponentially Amplified Biosensing.

Rapid and sensitive detection of nucleic acids is vital for disease diagnosis. This work designed an enzyme-free isothermal strategy for rapid exponential signal amplification through target-triggered catalytic hairpin assembly (CHA) to induce the spatially sensitive fluorescent signal of the pyrene excimer. Functionally, this system consisted of three pyrene labelled hairpins (H1, H2, and H3) and one catalyst DNA C.

The increase in CSF total protein and immunoglobulins in Chinese patients with sporadic amyotrophic lateral sclerosis: A retrospective study.

Objective: The objective of this study was to evaluate total protein (TP) in the cerebrospinal fluid (CSF) and immunoglobulins in the serum and CSF in patients with sporadic amyotrophic lateral sclerosis (sALS). We also assessed the correlations of these variables with sALS progression and severity and estimated their roles in predicting prognosis.

Methods: We retrospectively collected data on CSF TP and immunoglobulins in the CSF and serum, including immunoglobulin G, immunoglobulin A and immunoglobulin M, from 326 sALS patients.

Motion of Enzyme-Powered Microshell Motors.

Microshells are attractive in constructing bubble-propelled micromotors due to the lower energy consumption for bubbles forming on a concave surface. In this work, enzyme-powered microshell motors were fabricated on multimetallic (Au/Ag/Au) microshells along with the modification of catalase on its concave surface. The catalase triggered the decomposition of hydrogen peroxide to oxygen gas, hence propelling the autonomous motion of microshell motors.

Elevated serum ferritin level as a predictor of reduced survival in patients with sporadic amyotrophic lateral sclerosis in China: a retrospective study.

The objective of this study was to compare iron metabolic variables in the serum and cerebrospinal fluid (CSF) of patients with sporadic amyotrophic lateral sclerosis (sALS) with those of patients with multiple system atrophy (MSA) and control subjects. We also assessed the correlations of these variables with sALS progression and severity and estimated their roles in predicting prognosis. We retrospectively collected iron metabolic parameters, including serum levels of iron, ferritin, transferrin levels and total iron binding capacity and the CSF level of ferritin, from 435 sALS patients, 176 MSA patients and 431 control subjects.