Peripheral immune profiling highlights a dynamic role of low-density granulocytes in myasthenia gravis.

Background: Myasthenia gravis (MG) is an autoimmune neuromuscular disease marked by dysregulation of several immune cell populations. Here we explored peripheral immune landscape, particularly the role of low-density granulocytes (LDGs).

Methods: Single-cell and bulk RNA sequencing analyzed peripheral immune cells from MG patients pre- (n = 4) and after treatment (n = 2), as well as healthy controls (n = 3).

The impact of anions on electrooxidation of perfluoroalkyl acids by porous Magnéli phase titanium suboxide anodes.

Previous studies have indicated the great performance of electrooxidation (EO) to mineralize per- and polyfluoroalkyl substances (PFASs) in water, but different anions presented in wastewater may affect the implementation of EO treatment in field applications. This study invetigated EO treatment of perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA), two representative perfluoroalkyl acids (PFAAs), using porous Magnéli phase titanium suboxide anodes in electrolyte solutions with different anions present, including NO3-, SO42-, CO32- and PO43-. The experiment results indicate that CO32- enhanced PFAS degradation, while NO3- suppressed the degradation reactions with its concentration higher than 10 mM.

Short-term and long-term prognoses in AChR-Ab positive very-late-onset myasthenia gravis patients.

Background: Very-late-onset myasthenia gravis (VLOMG) refers to myasthenia gravis (MG) with onset at age 65 or older. Current research on VLOMG prognosis remains limited, especially regarding factors influencing outcomes.

Objectives: To identify the clinical factors that affect the short- and long-term prognosis of MG patients with an onset age ⩾65 years.

Electrooxidation of chlorophene and dichlorophen by reactive electrochemical membrane: Key determining factors of removal efficiency.

This study systematically investigated the variable main electrooxidation mechanism of chlorophene (CP) and dichlorophen (DCP) with the change of reaction conditions at TiO anode operated in batch and reactive electrochemical membrane (REM) modes. Significant degradation of CP and DCP was observed, that is, CP exhibited greater removal efficiency in batch mode at 0.5-3.

Environmental factors affecting the risk of generalization for ocular-onset myasthenia gravis: a nationwide cohort study.

Background: The environmental effects on the prognosis of ocular myasthenia gravis (OMG) remain largely unexplored.

Aim: To investigate the association between specific environmental factors and the generalization of OMG.

Design: The cohort study was conducted in China based on a nationwide multicenter database.

A novel splice-site mutation in CHMP2B associated with frontotemporal dementia: The first report from China and literature review.

Background: Frontotemporal dementia (FTD) has genetic heterogeneity, and the endosomal ESCRTIII-complex subunit CHMP2B variant is a rare cause of FTD. The mutations in CHMP2B were first identified in a large Danish pedigree with autosomal dominant FTD, and have also been found in several individuals from Belgium, France, the United States, and Türkiye. In the Chinese population, cases of CHMP2B variant-associated FTD have never been reported.

A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.

Polyglucosan body myopathy type 1 (PGBM1, OMIM #615895.) is a rare autosomal recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan accumulation in skeletal and cardiac muscles, giving rise to loss of ambulation and heart failure with or without immune system dysregulation.

Formation of chlorate and perchlorate during electrochemical oxidation by Magnéli phase TiO anode: inhibitory effects of coexisting constituents.

Formation of chlorate (ClO) and perchlorate (ClO) as by-products in electrooxidation process has raised concern. In the present study, the formation of ClO and ClO in the presence of 1.0 mM Cl on boron doped diamond (BDD) and Magneli phase titanium suboxide (TiO) anodes were evaluated.

Electrooxidation of per- and polyfluoroalkyl substances in chloride-containing water on surface-fluorinated TiO anodes: Mitigation and elimination of chlorate and perchlorate formation.

Electrooxidation (EO) has been shown effective in degrading per- and polyfluoroalkyl substances (PFASs) in water, but concurrent formation of chlorate and perchlorate in the presence of chloride is of concern due to their toxicity. This study examined EO treatment of three representative PFASs, perfluorooctane sulfonate (PFOS), perfluorooctanoic acid (PFOA) and 6:2 fluorotelomer sulfonate (6:2 FTS), in chloride-containing solutions on pristine and surface-fluorinated TiO anodes having different percentage of surface fluorination. The experiment results indicate that surface fluorination of TiO anodes slightly inhibited PFAS degradation, while significantly decreased the formation of chlorate and perchlorate.

Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal-Distal Myopathy in a Chinese Patient.

DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North America, and Asia. Interestingly, almost all identified mutations in previous reports were point mutations, and most of them were clustered in exon 5, which encodes the G/F domain of DNAJB6.

Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency.

Aims: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD).

Methods: Thirty-one patients with RR-MADD admitted to our hospital from January 2005 to November 2020 were enrolled, and their clinical data were collected. Pathological characteristics of the muscle tissue and possible pathogenic gene mutations were analyzed.

A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.

Background: Hereditary spastic paraplegia 7 (SPG7) is one of the subtypes of autosomal-recessive hereditary spastic paraplegia, which is a clinically heterogeneous neurodegenerative disorder. SPG7 often displays a complicated phenotype, including optic atrophy, ophthalmoparesis, and impaired emotional communication. In the Chinese population, sporadic cases of SPG7 variant-associated spastic ataxia are rarely reported.

Electrochemical oxidation combined with UV irradiation for synergistic removal of perfluorooctane sulfonate (PFOS) in water.

The effect of electrochemical degradation on Magnéli phase TiO anode combined with UV irradiation on the removal of PFOS was systematically evaluated in the present study. A synergistic effect of electrolysis and UV irradiation rather than a simple additive effect for PFOS degradation was demonstrated experimentally and theoretically. The short wavelength irradiation within 400 nm is the main contribution to enhance the electrochemical degradation of PFOS, while the initial pH of the solution has little effect on the PFOS degradation.

Identification of Hub Genes and Biological Pathways in Inclusion Body Myositis Using Bioinformatics Analysis.

Background: Inclusion body myositis (IBM) is a unique idiopathic inflammatory myopathy with unclear pathogenesis and poor prognosis. Although previous publications have identified some molecular biomarkers, the value of these biomarkers is unknown.

Objective: To identify hub genes and signaling pathways related to IBM for understanding the IBM-related mechanisms and providing guidance for therapy development.

An electrocoagulation and electrooxidation treatment train to remove and degrade per- and polyfluoroalkyl substances in aqueous solution.

This study examined the feasibility of a novel treatment train that combines electrocoagulation (EC) with electrooxidation (EO) treatment to remove and degrade per- and polyfluoroalkyl substances (PFASs) from water. Electrocoagulation with a zinc anode could effectively remove PFASs from water, and long-chain PFASs (C-C) tended to have a higher removal rate. Foam was generated when a relatively high current density (>1 mA cm) was applied to a relatively high PFAS concentration (each PFAS > 0.

A case of reversible splenial lesion syndrome secondary to Fanconi syndrome with white matter swelling as the main manifestation.

Reversible splenial lesion syndrome (RESLES) is a rare clinical imaging syndrome that is characterized by magnetic resonance imaging (MRI) findings of reversible abnormal signals in the splenium of the corpus callosum (SCC). There are a variety of pathogenic causes, including infection, metabolic disturbances, and antiepileptic drug use. Moreover, the disease is clinically rare and easily misdiagnosed.

A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.

We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene ). The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Laboratory examination and electromyography suggested a muscle disease of the lipid storage myopathies.

Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.

NLSDM is a rare metabolic myopathy caused by mutations in the patatin-like phosphatase domain protein 2 (PAPLA2) genes. In the present study, we describe the clinical and genetic findings in our Chinese patient with NLSDM. Sequence analysis of PNPLA2 gene was performed.

Degradation kinetics of target compounds and correlations with spectral indices during UV/HO post-treatment of biologically treated acrylonitrile wastewater.

In this study, the post-treatment of biologically treated acrylonitrile wastewater was investigated during UV/HO process. Five contaminants in the effluent were selected as target compounds, including Furmaronitrile (FMN), 3-Pyridinecarbonitrile (3PCN), 1,3-Dicyanobenzene (1,3-DCB), 5-Methyl-1H-benzotriazole (5MBT), and 7-Azaindole (7AID). Under optimal reaction conditions, the UV/HO post-treatment exhibited good performances in destruction of organic compounds and toxicity.

Effects of chloride on electrochemical degradation of perfluorooctanesulfonate by Magnéli phase TiO and boron doped diamond anodes.

This study examined the degradation of perfluorooctanesulfonate (PFOS) in an electrochemical system using Magnéli phase titanium suboxide (TiO) as the anode. In particular, the influence of chloride on the treatment process was examined. Tests were also conducted with boron doped diamond (BDD) electrodes for comparison.

Degradation of Perfluorooctanesulfonate by Reactive Electrochemical Membrane Composed of Magnéli Phase Titanium Suboxide.

This study investigated the degradation of perfluorooctanesulfonate (PFOS) in a reactive electrochemical membrane (REM) system in which a porous Magnéli phase titanium suboxide ceramic membrane served simultaneously as the anode and the membrane. Near complete removal (98.30 ± 0.