A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.

Objective: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant genetic disease characterized by the misfolding and deposition of the transthyretin (TTR) protein. This study aimed to describe the clinical and genetic characteristics of ATTRv in a large multicenter Chinese cohort.

Methods: Patients from 14 centers were included in the study.

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

Background: Myofibrillar myopathy (MFM) is a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk and disintegration of myofibrils. OBJECTIVE: We aimed to analyze the mutational spectrum and phenotypic features of MFM in China.

Methods: We used targeted next generation sequencing (NGS) to identify causative mutations in 39 MFM patients with confirmed myopathological diagnosis.

Phenotypic and Genotypic Characteristics of Adult-Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review.

Introduction: Glutaric aciduria Type 1 (GA-1) is an autosomal recessive inherited disorder caused by GCDH variations. GA-1 is a rare disease that typically manifests in infancy and early childhood, with adult-onset cases being even rarer. Currently, data on the clinical and genetic characteristics of adult-onset GA-1 remain limited.

Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies.

We aimed to identify novel biomarkers of muscle pathological changes via a large-scale histopathology-based multi-omics study of dystrophinopathies. We performed a comparative pathological analysis of 121 Duchenne muscular dystrophy (DMD) and 114 Becker muscular dystrophy (BMD) patients to determine muscle pathological similarities and differences between DMD and BMD that have not been systematically investigated. Customized bioinformatic analyses of bulk muscle RNA-sequencing data derived from 35 DMD patients, 39 BMD patients, and 21 controls were performed to identify gene signatures associated with pathological changes.

Sural nerve injury in Behçet's disease patients treated with thalidomide.

Introduction: Thalidomide has shown exceptional results in the management of Behçet's disease. Despite its efficacy, thalidomide is associated with a number of adverse effects, including peripheral neuropathy. This study aims to characterize the pathologic features of neuropathy in Behçet's disease patients who received thalidomide therapy.

Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease.

Late onset Pompe disease (LOPD) is caused by a deficiency of the enzyme acid α-glucosidase, resulting in glycogen accumulation in lysosomes. The mechanism of LOPD has been less explored. In this study, we used an integrative analysis of the proteomics and metabolomics of LOPD muscle samples to reveal the potential mechanisms.

Potential of Glycyrrhiza in the prevention of colitis-associated colon cancer.

Ethnopharmacological Relevance: Glycyrrhiza, a legume native to the Mediterranean region, has a long history of ethnomedicinal use in China. Due to its antiviral, antibacterial, anti-inflammatory, antioxidant, antitumor, anti-ulcer, and hepatoprotective properties, Glycyrrhiza is widely utilized in the treatment of gastrointestinal disorders.

The Aim Of The Review: The specific mechanisms of the main active constituents of glycyrrhiza in the treatment of inflammatory bowel disease, precancerous lesions and colorectal cancer at all stages of the colitis-associated colon cancer "Inflammation-Dysplasia-Cancer" sequence, as well as its pharmacokinetics, toxicology, formulation improvements, and application studies, are reviewed to provide new insights and perspectives on glycyrrhiza as a dietary supplement to treat and prevent colitis-associated colon cancer.

Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.

Background: PNPLA8 is a gene that causes an autosomal recessive mitochondrial disease characterised by microcephaly and intractable epilepsy in infants and cerebellar ataxia and limb weakness in adults. Herein, we report the clinical, muscle pathology, and brain imaging features of an adult patient with new variants of PNPLA8.

Methods: A 27-year-old Chinese woman presented with abnormal gait at age 11, remained amenorrhoeic with an infantile uterus at age 17, and presented with head and limb tremors at age 21.

Drizzle microphysical property and vertical air motions retrieval using Doppler lidar and radar measurements.

The microphysical changes in cloud formation and development are closely related to the vertical air motions. It is difficult to simultaneously detect microphysical parameters of drizzle and vertical air motions. This study proposes a method for the drizzle microphysical property and vertical air motions retrieval using Doppler lidar and radar measurements.

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.

A novel m.5906G > a variant in MT-CO1 causes MELAS/Leigh overlap syndrome.

The MELAS/Leigh overlap syndrome manifests with a blend of clinical and radiographic traits from both MELAS and LS. However, the association of MELAS/Leigh overlap syndrome with MT-CO1 gene variants has not been previously reported. In this study, we report a patient diagnosed with MELAS/Leigh overlap syndrome harboring the m.

The prevalence of neuropsychiatric symptoms and correlation with MRI findings in CADASIL patients.

Objective: To assess the prevalence, timing, and functional impact of neuropsychiatric symptoms in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to assess whether these neuropsychiatric symptoms are associated with magnetic resonance imaging (MRI) features of the patients.

Methods: Our study included a total of 78 patients with CADASIL. To assess neuropsychiatric symptoms, we evaluated the caregivers using the Neuropsychiatric Inventory (NPI).

Elevated serum circulating cell-free mitochondrial DNA in amyotrophic lateral sclerosis.

Background And Purpose: The substantial role of inflammation in amyotrophic lateral sclerosis (ALS) is gaining support from recent research. Studies indicate that circulating cell-free mitochondrial DNA (ccf-mtDNA) can activate the immune system and is associated with neurodegenerative diseases. This research was designed to quantify ccf-mtDNA levels in the serum of ALS patients.

Integrating Transcriptomics, Proteomics, and Metabolomics to Investigate the Mechanism of Fetal Placental Overgrowth in Somatic Cell Nuclear Transfer Cattle.

A major factor limiting the development of somatic cell nuclear transfer (SCNT) technology is the low success rate of pregnancy, mainly due to placental abnormalities disrupting the maternal-fetal balance during pregnancy. Although there has been some progress in research on the abnormal enlargement of cloned bovine placenta, there are still few reports on the direct regulatory mechanisms of enlarged cloned bovine placenta tissue. In this study, we conducted sequencing and analysis of transcriptomics, proteomics, and metabolomics of placental tissues from SCNT cattle ( = 3) and control (CON) cattle ( = 3).

Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation.

Background: Hereditary transthyretin amyloidosis (ATTR) is an autosomal dominant disease characterized by amyloid fibril deposition. The TTR c.148G > T mutation (V30L) in ATTR is rarely reported, and its biochemical properties are unknown.

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.

Single-Nucleus RNA Sequencing Unravels Early Mechanisms of Human Becker Muscular Dystrophy.

Objective: The transcriptional heterogeneity at a single-nucleus level in human Becker muscular dystrophy (BMD) dystrophic muscle has not been explored. Here, we aimed to understand the transcriptional heterogeneity associated with myonuclei, as well as other mononucleated cell types that underly BMD pathogenesis by performing single-nucleus RNA sequencing.

Methods: We profiled single-nucleus transcriptional profiles of skeletal muscle samples from 7 BMD patients and 3 normal controls.

Composition and metabolic flexibility of hydrocarbon-degrading consortia in oil reservoirs.

Hydrocarbon-degrading consortia (HDC) play an important role in petroleum exploitation. However, the real composition and metabolic mechanism of HDC in the microbial enhanced oil recovery (MEOR) process remain unclear. By combining C-DNA stable isotope probing microcosms with metagenomics, some newly reported phyla, including Chloroflexi, Synergistetes, Thermotogae, and Planctomycetes, dominated the HDC in the oil reservoirs.