Clinicopathological and imaging differences between pediatric and adult patients with anti-hydroxy-3-methyl-glutaryl-coenzyme A reductase necrotizing myopathy.

We aimed to elucidate the clinicopathological and imaging differences between pediatric and adult patients with anti-hydroxy-3-methyl-glutaryl-coenzyme A reductase (anti-HMGCR) myopathy. A series of 111 patients with anti-HMGCR myopathy were divided into pediatric (33 patients, onset age < 18 years) and adult (78 patients, onset age ≥ 18 years) groups. Clinical, imaging, and pathological characteristics were compared between the groups.

Treatment of refractory immune-mediated necrotizing myopathy with efgartigimod.

Objective: We aimed to explore the efficacy and safety of efgartigimod in patients with refractory immune-mediated necrotizing myopathy (IMNM).

Methods: This open-label pilot observational study included seven patients with refractory IMNM, all of whom received intravenous efgartigimod treatment. The clinical response was assessed after 4 weeks of efgartigimod treatment according to the 2016 American College of Rheumatology-European League Against Rheumatism response criteria for adult idiopathic inflammatory myopathy.

Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy.

Objectives: The aim of this study is to explore the expression of inflammatory cytokines (ICs) in Fabry disease (FD), the correlation between ICs and FD phenotypes, and the impact of enzyme replacement therapy (ERT) on IC expression.

Methods: We recruited 67 FD patients and 44 healthy controls (HCs) and detected concentrations of the following ICs: interferon-γ, interleukin (IL)-1β, IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12P70, IL-17A, IL-17F, IL-22, tumor necrosis factor (TNF)-α, and TNF-β. We also analyzed the impact of ERT on IC expression in FD patients and the relationship between IC expression and sex, genotype, phenotype, disease burden, and biomarkers.

Circulating Cell-Free DNA Promotes Inflammation in Patients with Dermatomyositis with Anti-NXP2 Antibodies via the cGAS/STING Pathway.

Objectives: Dermatomyositis (DM) is a rare type I interferon (IFN-I)-driven autoimmune disease, and anti-nuclear matrix protein 2 (NXP2) antibody is related to severe muscle disease and poor prognosis. Circulating cell-free DNA (ccf-DNA), including ccf-mitochondrial DNA and ccf-nuclear DNA, activates cGAS/STING pathway to induce IFN-I production in autoimmune diseases. We investigated whether serum-derived ccf-DNA played a pathogenic role on skeletal muscle in anti-NXP2 antibody-positive DM.

COVID-19 in patients with myasthenia gravis: a single-center retrospective study in China.

Background: Coronavirus disease 2019 (COVID-19) has been a great concern since 2019. Patients with myasthenia gravis (MG) may be at higher risk of COVID-19 and a more severe disease course. We examined the associations between COVID-19 and MG.

Pathological findings with vacuoles in anti-mitochondrial antibody-positive inflammatory myopathy.

Background: A few patients with inflammatory myopathy showed anti-mitochondrial antibody (AMA) positivity. This study aimed to report the clinical and pathological findings with vacuoles in 3 cases of such patients.

Methods: Three cases with myositis from the Myositis Clinical Database of Peking University First Hospital were identified with AMA positivity.

Decreased retinal vascular density is associated with cognitive impairment in CADASIL: an optical coherence tomography angiography study.

Purpose: This study aimed to assess alterations in retinal vascular density in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients using optical coherence tomography angiography (OCTA) and investigate their association with MRI and cognitive features.

Methods: Twenty-five patients with CADASIL and forty healthy controls were evaluated by Cirrus HD-OCT 5000 with AngioPlex OCTA to determine changes in macular retinal vasculature. Retinal vasculature parameters between two groups were compared.

What should we expect when two myositis-specific antibodies coexist in a patient.

Background: The coexistence of two myositis-specific autoantibodies (MSA) is considered extremely rare. We describe three patients with both anti-signal recognition particle (SRP) antibodies and another MSA in serum.

Methods: We performed a retrospective clinical data collection and follow-up studies of the clinical manifestations and treatment outcome of three patients positive with anti-SRP antibodies and other MSAs.

Narrative review of autoantibodies in idiopathic inflammatory myopathies.

Objective: To discuss the characteristics of autoantigens, detection methods and roles of myositis associated autoantibodies (MAAs) and myositis specific autoantibodies (MSAs), as well as the clinical features of disease subgroups defined by MAAs/MSAs.

Background: Autoantibodies in patients with idiopathic inflammatory myopathies (IIMs) are conventionally divided into MAAs and MSAs. MAAs usually refer to autoantibodies which are also available in systematic autoimmune diseases (anti-PM/SCL, anti-Ku, anti-Ro52 and anti-U1RNP antibodies).

CIDP/autoimmune nodopathies with nephropathy: a case series study.

Objective: The co-morbidity of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)/autoimmune nodopathies with nephropathy has been gradually known in recent years. This study was intended to explore the clinical, serological and neuropathological features of seven patients with CIDP/autoimmune nodopathies and nephropathy.

Methods: Among 83 CIDP patients, seven were identified with nephropathy.

Small molecule agonist of mitochondrial fusion repairs mitochondrial dysfunction.

Membrane dynamics are important to the integrity and function of mitochondria. Defective mitochondrial fusion underlies the pathogenesis of multiple diseases. The ability to target fusion highlights the potential to fight life-threatening conditions.

Comparison of cytokine/chemokine profiles between dermatomyositis and anti-synthetase syndrome.

Objectives: Dermatomyositis (DM) and anti-synthetase syndrome (ASS) are autoimmune diseases with multisystem involvement. Despite sharing some clinical and myopathological features, these are two diseases with different pathogeneses and prognoses. We aimed to clarify and compare cytokine/chemokine profiles in both disorders, which may help in the differential diagnosis.

Thigh MRI in antisynthetase syndrome, and comparisons with dermatomyositis and immune-mediated necrotizing myopathy.

Objectives: To evaluate MRI changes to define muscle-lesion specific patterns in patients with antisynthetase syndrome (ASS), and compare them with those in other common idiopathic inflammatory myopathy subtypes.

Methods: Qualitative and semi-quantitative thigh MRI evaluations were conducted in patients with ASS, DM and immune-mediated necrotizing myopathy (IMNM).

Results: This study included 51 patients with ASS, 56 with DM and 61 with IMNM.

Efficacy and Safety of Tacrolimus Therapy for a Single Chinese Cohort With Very-Late-Onset Myasthenia Gravis.

Background And Purpose: Previous studies have found tacrolimus to be a favorable drug for treating different types of myasthenia gravis (MG), but few have focused on very-late-onset MG (VLOMG). This study evaluated the efficacy and safety of tacrolimus for VLOMG therapy.

Methods: This was a retrospective single-center cohort study of 70 patients with VLOMG (onset ≥65 years) who visited Peking University First Hospital in 2019.

Chronic inflammatory demyelinating polyneuropathy with hypoglossal nerve involvement and inverted Beevor's sign: case report.

Background: Cranial nerve involvement is not commonly encountered in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); this is especially true for involvement of the hypoglossal nerve. Neither Beevor's sign nor its inverted form has previously been described in CIDP.

Case Presentation: A 28-year-old man presented with distal-predominant limb weakness and numbness at the age of 18.

Mitochondrial morphology and MAVS-IFN1 signaling pathway in muscles of anti-MDA5 dermatomyositis.

Objective: This study aimed to investigate mitochondrial changes and the mitochondrial antiviral-signaling protein (MAVS)-type I interferon (IFN1) signaling pathway in the muscles of anti-melanoma differentiation gene 5(MDA5) dermatomyositis (DM) patients.

Methods: Eleven anti-MDA5 DM and ten antibody-negative DM patients were included. Muscle biopsies were performed in all patients.

Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression.

It has been implicated that Dux4 plays crucial roles in development of facioscapulohumeral dystrophy. But the underlying myopathic mechanisms and related down-stream events of this retrogene were far from clear. Here, we reported that overexpression of Dux4 in a cell model TE671 reduced cell proliferation rate, and increased G1 phase accumulation.

Myopathy with anti-signal recognition particle antibodies: clinical and histopathological features in Chinese patients.

Myopathy with anti-signal recognition particle antibodies (SRP) is generally thought to be immune-mediated necrotic myopathy in previous studies. We report the clinical and histopathological features of myopathy with anti-SRP antibodies in Chinese patients. Muscle biopsy and immunoblots for myositis antibodies were carried out in 123 patients with idiopathic inflammatory myopathy.