Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.

Background: Myosin heavy chain 9-related diseases (MYH9-RDs) are rare autosomal dominant platelet disorders characterized by macrothrombocytopenia and leukocyte inclusion bodies. They can manifest with nonhematological complications, including deafness, nephropathy, or cataracts. Due to its rarity and its similar clinical presentation with immune thrombocytopenia (ITP), MYH9-RD is often misdiagnosed as ITP, leading to inappropriate treatment and delayed management of complications.

Slippery hydrogel surface on PTFE hollow fiber membranes for sustainable emulsion separation.

Establishing an efficient and sustainable membrane module is of great significance for practical oil/water emulsion separation. Superwetting membranes have been extensively studied but cannot meet long lasting separation owing to inevitable membrane fouling. Herein, we constructed a hydrogel-mediated slippery surface on polytetrafluoroethylene (PTFE) hollow fibers and then designed a flexible and swing hollow fiber membrane module inspired by fish gill respiration, which achieved sustainable emulsion separation.

Assessment of urine sample collection and processing variables for extracellular vesicle-based proteomics.

Extracellular vesicles (EVs) in urine are a promising source for developing non-invasive biomarkers. However, urine concentration and content are highly variable and dynamic, and actual urine collection and handling often is nonideal. Furthermore, patients such as those with prostate diseases have challenges in sample collection due to difficulties in holding urine at designated time points.

Platelet RNA sequencing reveals profile of caffeic acid affecting hemostasis in mice.

Background: Caffeic acid (CA) is a naturally occurring phenolic compound with diverse pharmacologic properties. CA plays a crucial role in hemostasis by increasing platelet count. However, the mechanism by which CA regulates platelets to promote hemostasis remains unclear.

Low vitamin D during pregnancy is associated with infantile eczema by up-regulation of PI3K/AKT/mTOR signaling pathway and affecting FOXP3 expression: A bidirectional cohort study.

Vitamin D has received increasing attention because of its association with atopic disease development. Limited studies that have been done on the impact of maternal vitamin D levels during pregnancy on infantile eczema are still debatable. We wanted to discover the effect of maternal vitamin D on infantile eczema and explore whether regulatory T cells (Treg) play a role in this process.

Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.

Objective: Thrombotic thrombocytopenic purpura (TTP) is a rare and fatal disease caused by a severe deficiency in the metalloprotease ADAMTS13 and is characterized by thrombotic microangiopathy. The present study aimed to investigate the genes and variants associated with TTP in a Chinese population.

Methods: Target sequencing was performed on 220 genes related to complements, coagulation factors, platelets, fibrinolytic, endothelial, inflammatory, and anticoagulation systems in 207 TTP patients and 574 controls.

Hollow multishelled heterostructures with enhanced performance for laser desorption/ionization mass spectrometry based metabolic diagnosis.

High-performance metabolic diagnosis-based laser desorption/ionization mass spectrometry (LDI-MS) improves the precision diagnosis of diseases and subsequent treatment. Inorganic matrices are promising for the detection of metabolites by LDI-MS, while the structure and component impacts of the matrices on the LDI process are still under investigation. Here, we designed a multiple-shelled ZnMnO/(Co, Mn)(Co, Mn)O (ZMO/CMO) as the matrix from calcined MOF-on-MOF for detecting metabolites in LDI-MS and clarified the synergistic impacts of multiple-shells and the heterostructure on LDI efficiency.

Genetic Variations of are Associated with Risk Screening for Non-Alcoholic Fatty Liver Disease.

Purpose: Protein kinase B (PKB/AKT) has shown a high profile in the research of metabolic diseases. This research sought to determine whether the gene's single nucleotide polymorphisms (SNPs) and the risk of developing non-alcoholic fatty liver disease (NAFLD) were related.

Patients And Methods: Recruited in this case-control study were 2693 subjects, including 815 with NAFLD and 1878 without NAFLD.

Phosphoproteome analysis of cerebrospinal fluid extracellular vesicles in primary central nervous system lymphoma.

Primary central nervous system lymphoma (PCNSL) is a rare but highly aggressive extra-nodal non-Hodgkin's lymphoma, mostly of the diffuse large B-cell lymphoma (DLBCL) type. The present invasive diagnosis and poor prognosis of PCNSL propose an urgent need to develop molecular markers for early detection, real-time monitoring and treatment evaluation. Cerebrospinal fluid (CSF)-derived extracellular vesicles (EVs) are promising biomarker carriers for liquid biopsy of CNS diseases and brain tumors; however, research remains challenging due to the low concentration of EVs in the limited available volume of CSF from each individual patient and the low efficiency of existing methods for EV enrichment.

Epidemiological characteristics of alcohol-related liver disease in China: a systematic review and meta-analysis.

Background: This meta-analysis aimed to explore the epidemiological characteristics of alcohol-related liver disease (ALD) in China.

Methods: Studies published between January 2000 and January 2023 were searched from 3 databases in English and 3 databases in Chinese. DerSimonian-Laird's random-effects model was adopted to calculate the pooled prevalence.

Profiling Phosphoproteome Landscape in Circulating Extracellular Vesicles from Microliters of Biofluids through Functionally Tunable Paramagnetic Separation.

Many biological processes are regulated through dynamic protein phosphorylation. Monitoring disease-relevant phosphorylation events in circulating biofluids is highly appealing but also technically challenging. We introduce here a functionally tunable material and a strategy, extracellular vesicles to phosphoproteins (EVTOP), which achieves one-pot extracellular vesicles (EVs) isolation, extraction, and digestion of EV proteins, and enrichment of phosphopeptides, with only a trace amount of starting biofluids.

Data-Independent Acquisition Phosphoproteomics of Urinary Extracellular Vesicles Enables Renal Cell Carcinoma Grade Differentiation.

Translating the research capability and knowledge in cancer signaling into clinical settings has been slow and ineffective. Recently, extracellular vesicles (EVs) have emerged as a promising source for developing disease phosphoprotein markers to monitor disease status. This study focuses on the development of a robust data-independent acquisition (DIA) using mass spectrometry to profile urinary EV phosphoproteomics for renal cell cancer (RCC) grades differentiation.

Combining serum uric acid and fatty liver index to improve prediction quality of nonalcoholic fatty liver disease.

Background: The significant association between serum uric acid (SUA) and nonalcoholic fatty liver disease (NAFLD) is well documented. In this report, we tested the hypothesis that SUA might improve the widely studied fatty liver index (FLI) to predict NAFLD.

Methods: A cross-sectional study was performed in a community of Nanjing, China.

Designed Concave Octahedron Heterostructures Decode Distinct Metabolic Patterns of Epithelial Ovarian Tumors.

Epithelial ovarian cancer (EOC) is a polyfactorial process associated with alterations in metabolic pathways. A high-performance screening tool for EOC is in high demand to improve prognostic outcome but is still missing. Here, a concave octahedron Mn O /(Co,Mn)(Co,Mn) O (MO/CMO) composite with a heterojunction, rough surface, hollow interior, and sharp corners is developed to record metabolic patterns of ovarian tumors by laser desorption/ionization mass spectrometry (LDI-MS).

Construction of a ternary component chip with enhanced desorption efficiency for laser desorption/ionization mass spectrometry based metabolic fingerprinting.

metabolic fingerprinting encodes diverse diseases for clinical practice, while tedious sample pretreatment in bio-samples has largely hindered its universal application. Designed materials are highly demanded to construct diagnostic tools for high-throughput metabolic information extraction. Herein, a ternary component chip composed of mesoporous silica substrate, plasmonic matrix, and perfluoroalkyl initiator is constructed for direct metabolic fingerprinting of biofluids by laser desorption/ionization mass spectrometry.

Genetic polymorphisms of Ca transport proteins and molecular chaperones in mitochondria-associated endoplasmic reticulum membrane and non-alcoholic fatty liver disease.

Background: Non-alcoholic fatty liver disease (NAFLD) is recognized to be closely associated with endoplasmic reticulum stress and mitochondrial dysfunction, while previous studies have emphasized the important role of calcium homeostasis from the mitochondria-associated endoplasmic reticulum membrane (MAM) in the endoplasmic reticulum and mitochondria. This article will assess the association between genetic polymorphisms of Ca transport proteins and molecular chaperones in MAM and NAFLD risk.

Methods: A case-control study was conducted in a community of Nanjing, China during April to December 2020.

Efficacy of luteolin on the human gastric cancer cell line MKN45 and underlying mechanism.

Objective: To investigate the antitumour efficacy of luteolin on gastric cancer (GC) and study the mechanism underpinning the action.

Methods: Effects of luteolin on cell growth inhibition, apoptosis, and cell cycle arrest in MKN45 cells were investigated using the cell counting kit-8 assay. Changes in the mitochondrial membrane potential after luteolin treatment were assessed using 5,5',6,6'-tetra-chloro-1,1',3,3'-tetraethylbenzimidazolcarbocyanineiodi-de (JC-1) staining.

Proteomic and phosphoproteomic landscape of salivary extracellular vesicles to assess OSCC therapeutical outcomes.

Circulating extracellular vesicles (EVs) have emerged as an appealing source for surrogates to evaluate the disease status. Herein, we present a novel proteomic strategy to identify proteins and phosphoproteins from salivary EVs to distinguish oral squamous cell carcinoma (OSCC) patients from healthy individuals and explore the feasibility to evaluate therapeutical outcomes. Bi-functionalized magnetic beads (BiMBs) with Ti (IV) ions and a lipid analog, 1,2-Distearoyl-3-sn-glycerophosphoethanolamine (DSPE) are developed to efficiently isolate EVs from small volume of saliva.

Association Between Triglyceride-Glucose Index and Risk of Metabolic Dysfunction-Associated Fatty Liver Disease: A Cohort Study.

Objective: Insulin resistance (IR) is a major factor involved in the pathogenesis of metabolic dysfunction-associated fatty liver disease (MAFLD). Triglyceride-glucose (TyG) index, an easily detected surrogate marker of IR, has not been explored sufficiently on its relationship with incident MAFLD risk. This study sought to investigate the association of baseline TyG index with the risk of MAFLD in a Chinese cohort.

Risk factors and protective factors for alcohol-related liver disease: A systematic review and meta-analysis.

Background: Although alcohol-related liver disease (ALD) is a global health threat, there are no specific effective treatments for it. Thus, efforts at preventing ALD are important and could be enhanced by using strategies based on validated risk and protective factors for the disease.

Methods: The literature on factors influencing the risk for ALD was systematically searched from PubMed, Embase, and the Cochrane library databases from inception to June 2022.

Proteomics, Phosphoproteomics and Mirna Analysis of Circulating Extracellular Vesicles through Automated and High-Throughput Isolation.

Extracellular vesicles (EVs) play an important role in the diagnosis and treatment of diseases because of their rich molecular contents involved in intercellular communication, regulation, and other functions. With increasing efforts to move the field of EVs to clinical applications, the lack of a practical EV isolation method from circulating biofluids with high throughput and good reproducibility has become one of the biggest barriers. Here, we introduce a magnetic bead-based EV enrichment approach (EVrich) for automated and high-throughput processing of urine samples.

External validation and comparison of simple tools to screen for nonalcoholic fatty liver disease in Chinese community population.

Background: Various noninvasive tools based on anthropometric indicators, blood lipids, and liver enzymes, etc. have been developed to screen for nonalcoholic fatty liver disease (NAFLD), with different diagnostic performance and cutoff values among studies. We aimed to validate and compare eight NAFLD-related models developed by simple indicators and to define their cutoff values in Chinese community population.

A combined association of serum uric acid, alanine aminotransferase and waist circumference with non-alcoholic fatty liver disease: a community-based study.

Background: Increasing evidence has supported that serum uric acid (SUA), alanine aminotransferase (ALT) and waist circumference (WC) are associated with the occurrence of non-alcoholic fatty liver disease (NAFLD). However, the combined role of these factors in early screening of NAFLD has not been investigated. We aimed to de lineate this role in a community-based population.

Influences of Vitamin D Levels and Vitamin D-Binding Protein Polymorphisms on Nonalcoholic Fatty Liver Disease Risk in a Chinese Population.

Introduction: Vitamin D-binding protein (VDBP) is correlated with nonalcoholic fatty liver disease (NAFLD) through the biological functions of regulating plasma vitamin D (VD) level and the inflammatory process.

Objective: This study aims to investigate the effects of VD level and VDBP gene polymorphisms on the risk of NAFLD in a Chinese population.

Methods: Plasma 25-hydroxyvitamin D3 levels were measured and seven VDBP candidate genetic variants (rs222020, rs2282679, rs4588, rs1155563, rs7041, rs16847024, rs3733359) were genotyped among participants in this case-control study.