Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience.

Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.

Comparison of the Effects of H37Rv and Infiltration on Tumor Necrosis Factor-Alpha and Interleukin-1 Beta Expression in Osteoblasts.

This study aims to compare the expression levels of tumor necrosis factor-alpha (TNF-α) and interleukin-1 beta (IL-1β) in osteoblasts infiltrated with H37Rv (H37Rv) and to understand the differential bone destruction in spinal tuberculosis (STB) versus spondylitis (BS). Primary osteoblasts were isolated and cultured from the cranial bones of 2-5 days old mice and characterized by alkaline phosphatase (ALP) staining and alizarin red staining (ARS). H37Rv and were cultured to the logarithmic phase, and transfection solutions were prepared.

Factors affecting poor prognosis of COVID-19 in people living with human immunodeficiency virus: A systematic review and meta-analysis of co-infection.

Objectives: This study aims to assess the correlation between clinical features and mortality in human immunodeficiency virus (HIV)-infected individuals with COVID-19.

Methods: A systematic literature search was conducted for cohort, cross-sectional, and case series that reported co-infection with HIV and COVID-19 published from January to September 2020. Clinical features such as age, comorbidities, CD4T lymphocyte counts, HIV RNA levels, and antiretroviral regimens were evaluated using meta-analyses and systematic reviews.

Genomic characterization of ST11-KL25 hypervirulent KPC-2-producing multidrug-resistant from China.

The global prevalence of ST11 hypervirulent carbapenem-resistant (hv-CRKP) isolates has been increasingly documented, yet genomic characterization of this clone remains insufficiently explored. Here, we report a clinical ST11-KL25 hv-CRKP strain (KP156) that exhibited resistance to multiple antibiotics and demonstrated hypervirulence in a mouse infection model. Whole-genome sequencing revealed that KP156 harbored one virulence plasmid (pKP156-Vir) and two resistance plasmids (pKP156-KPC and pKP156-tetA).

Tumor burden with AFP improves survival prediction for TACE-treated patients with HCC: An international observational study.

Background & Aims: Current prognostic models for patients with hepatocellular carcinoma (HCC) undergoing transarterial chemoembolization (TACE) are not extensively validated and widely accepted. We aimed to develop and validate a continuous model incorporating tumor burden and biology for individual survival prediction and risk stratification.

Methods: Overall, 4,377 treatment-naive candidates for whom TACE was recommended, from 39 centers in five countries, were enrolled and divided into training, internal validation, and two external validation datasets.

TiRobot-assisted versus freehand femoral neck system placement in the treatment of femoral neck fractures: a systematic review and meta-analysis.

The purpose of this study is to assess the safety and effectiveness of TiRobot-assisted treatment for femoral neck fractures, in comparison to traditional freehand treatment methods. Throughout the research process, we conducted an extensive literature search across numerous databases, including PubMed, EMBASE, Cochrane Library, Web of Science, China National Knowledge Infrastructure (CNKI), CQVIP, and Wanfang. Based on the literature screening criteria, we selected six studies, encompassing 358 cases of femoral neck fracture patients, for this meta-analysis.

Impaired ARID1A expression attenuated the immune response in gastric cancer via histone acetylation.

Background: The primary objective of this study was to examine whether ARID1A mutations confer a fitness advantage to gastric cancer from an immunological perspective, along with elucidating the underlying mechanism. Additionally, we aimed to identify the clinical potential of combining epigenetic inhibitors with immune checkpoint inhibitors to improve the efficacy of immunotherapy for gastric cancer.

Methods: The correlation between ARID1A gene expression and gastric cancer patient survival was analyzed using the GEO dataset GSE62254.

Near-infrared-II-driven Z-scheme heterojunction Polyglycolated MoS/CoFeO amplified edge potential for dual-mode imaging guided tumor synergistic therapy.

Targeting the peculiarities of tumor tissue microenvironment different from normal tissue, such as lower pH and overexpression of hydrogen peroxide is the key to effective treatment. In this study, acid-responsive Z-scheme heterojunctions polyglycolated MoS/CoFeO (MoS = molybdenum disulfide, CoFeO = cobalt ferrite) was synthesized using a two-step hydrothermal method, designated as MSCO-PEG, guided by dual modes of photoacoustic imagine (PAI) and nuclear magnetic imaging (MRI). MSCO-PEG (PEG = polyethylene glycol) responded to the acidic environment of tumor tissues and overexpression of hydrogen peroxide to turn on multimodal synergistic treatment of tumor cells under near-infrared-II (NIR-II) illumination.

Identifying joint association between body fat distribution with high blood pressure among 7 ∼ 17 years using the BKMR model: findings from a cross-sectional study in China.

Background: To investigate the joint associations between various body fat distribution parameters and high blood pressure (HBP) using the Bayesian Kernel Machine Regression (BKMR) model in school-aged children.

Methods: A diverse sample of 7 ∼ 17 years old (N = 1423; 50.25% boys) was recruited for this study.

Coenzyme Q10 Alleviates Silicosis Fibrosis Inhibiting Ferroptosis in Mice.

Background/aim: Silicosis, the most severe type of occupational pneumoconiosis, leads to diffuse pulmonary fibrosis without specific therapy. Ferroptosis is triggered by reactive oxygen species (ROS) and Fe overload-induced lipid peroxidation, which is involved in the progression of pulmonary fibrosis. As an important coenzyme in the process of aerobic respiration, Coenzyme Q10 (CoQ10) can enhance mitochondrial function and energy supply and reduce malondialdehyde (MDA) to limit the risk of fibrosis.

Novel methyldithiocarbazate derivatives as NDM-1 inhibitors to combat multidrug-resistant bacterial infection with β-lactams.

Given the ever-evolving landscape of antimicrobial resistance, the emergence of New Delhi metallo-β-lactamase-1 (NDM-1) has introduced a formidable challenge to global public health. In previous research, we identified the Compound Zndm19 as an NDM-1 inhibitor and reported Zndm19 derivatives, which exhibited moderate antibacterial activity when combined with meropenem (MEM). This moderate activity may have been due to the inability of Zndm19 to efficiently penetrate the bacterial outer membrane or its susceptibility to hydrolysis, which prevented it from exerting strong enzyme inhibition in synergy with bacterial cells.

Family Functioning, Anxiety and Depression in Chinese Higher Vocational School Students: A Network Analysis.

Purpose: Network analysis is a statistical method that explores the complex interrelationships among variables by representing them as nodes and edges in a network structure. This study aimed to examine the interconnections between family functioning, anxiety, and depression among vocational school students through network analysis approach.

Participants And Methods: A sample of 2728 higher vocational school students participated in a survey utilizing the Family APGAR Index Questionnaire (APGAR), Generalized Anxiety Disorder Scale (GAD-7), and Patient Health Questionnaire (PHQ-9).

Study protocol: A national cross-sectional study on psychology and behavior investigation of Chinese residents in 2023.

Introduction: This study protocol specifies the primary research line and theoretical framework of the 2023 Survey of the Psychology and Behavior of the Chinese Population. It aims to establish a consistent database of Chinese residents' psychological and behavioral surveys through multi-center and large-sample cross-sectional surveys to provide robust data support for developing research in related fields. It will track the public's physical and psychological health more comprehensively and systematically.

A drug-drug co-amorphous system for highly improved solubility of breviscapine: an experimental and computational study.

Drug-drug co-amorphous systems are a promising approach to improve the aqueous solubility of poorly water-soluble drugs. This study explores the combination of breviscapine (BRE) and matrine (MAT) form an amorphous salt, aiming to synergistically enhance the solubility and dissolution of BRE. In silico analysis of electrostatic potential and local ionization energy were conducted on BRE-MAT complex to predict the intermolecular interactions, and solvent-free energies were calculated using thermodynamic integration and density functional theory.

Interplay of Chromatin Remodeling BAF Complexes in Mouse Embryonic and Epiblast Stem Cell Conversion and Maintenance.

Mouse embryonic stem cells (ESCs) and epiblast stem cells (EpiSCs) are pluripotent stem cells derived from pre-implantation and post-implantation embryos, respectively. These cells are capable of interconversion through manipulation of key transcription factors and signaling pathways. While BAF chromatin remodeling complexes are known to play crucial roles in ESC self-renewal and pluripotency, their roles in EpiSCs and their interconversion with ESCs remain unclear.

Complex causal relationships between genetic predictions of 731 immune cell phenotypes and novel coronavirus: A two-sample mendelian randomization analysis.

Background: COVID-19, caused by SARS-CoV-2, has had a significant impact on global health. While the virus primarily affects the respiratory system, the intricate interplay between immune cells and the virus remains poorly understood. This study investigates the causal relationship between 731 immune cell phenotypes and COVID-19 using Mendelian randomization analysis.

Daily activities change is linked to acute angle closure occurrence in COVID-19 co-infected patients.

Objectives: To analyze the influence of daily activity-related factors associated with COVID-19 infection on the occurrence of acute angle closure (AAC).

Methods: A multicenter hospital-based study was conducted at 23 ophthalmic centers in 17 provincial-level regions across China to recruit patients with confirmed AAC during the post-lockdown time of COVID-19 (P-TOC) from Dec 7, 2022, to Jan 17, 2023, and three lockdown time of COVID-19 (TOC) periods, which included the TOC-2022 (Sep 7, 2022 - Dec 6, 2022), TOC-2021(Sep 7, 2021 - Jan 6, 2022) and TOC-2020 (Sep 7, 2020 - Jan 6, 2021). Patient information, including demographic, a questionnaire on daily activity changes during the AAC period, COVID-19 history, and eye examination results, was collected.

Multi-responsive biosensor prepared based on MXene and PDEA-HRP binary architecture films for HO detection and logic gate construction.

The quantitative detection of HO is of great significance for preventing the occurrence of diseases. In this work, an electrochemical biosensor for detecting HO was constructed through a step-by-step modification method. The PDEA-HRP/MXene/PG biosensor (PDEA = poly(N,N-dimethyl acrylamide), HRP = horseradish peroxidase, PG = pyrolytic graphite) was prepared with two-dimensional metal carbide (MXene) nano materials as the inner layer and PDEA-HRP hydrogel as the outer layer for the detection of HO.

Transcriptomic analysis of the HPT axis in a model of oligoasthenozoospermia induced by Adenine in rats.

Male infertility is most commonly caused by oligozoospermia, and its pathogenesis is still poorly understood at the molecular level. This study used RNA sequencing (RNA-Seq) technology to identify candidate genes and regulatory pathways that regulate semen quality in the hypothalamic, pituitary, and testicular tissues of healthy rats and Adenine-induced oligozoospermia model rats. Semen quality testing and histological analysis of testicular tissues were performed on both groups of rats.

In-depth exploration of cutaneous anthrax: clinical and pathological manifestations of a case report.

Anthrax is an acute infectious disease caused by Bacillus anthracis, which can infect various animals and humans. Cutaneous anthrax primarily presents as infiltrative, edematous erythema, surface vesicles, hemorrhagic vesicles, and necrotic eschar; some patients may also experience systemic symptoms such as fever and leukocytosis. With economic development and improvements in public health conditions, naturally occurring cases of cutaneous anthrax have significantly decreased, leading to limited reports on the pathological manifestations of this disease.

Indole-3-Aldehyde alleviates lung inflammation in COPD through activating Aryl Hydrocarbon Receptor to inhibit HDACs/NF-κB/NLRP3 signaling pathways.

Indole-3-aldehyde (I3A) is an intestinal microbial metabolite that regulates inflammation in various inflammatory diseases; however, its role in chronic obstructive pulmonary disease (COPD) remains unclear. This study aimed to investigate the anti-inflammatory effects and molecular mechanisms of I3A in COPD. We constructed in vivo models using cigarette smoke (CS)-stimulated mice and in vitro models using cigarette smoke extract (CSE)-stimulated MH-S cells.

Synergistic and efficient photocatalytic degradation of rhodamine B and tetracycline in wastewater based on novel S-scheme heterojunction phosphotungstic Acid@MIL-101(Cr).

To efficiently treat rhodamine B (RhB) and tetracycline (TC) in wastewater, MIL-101(Cr) was prepared by hydrothermal method and encapsulated with phosphotungstic acid (HPWO, abbreviated as PTA) to form an S-scheme heterojunction PTA@MIL-101(Cr)-x (P@M-x, x = 50, 100, 150, 200). The experimental results showed that after 180 min under visible light at pH 7, the degradation rates of RhB and TC were 97.81% and 99.

Rhupus syndrome: a unique disease overlapping systemic lupus erythematosus and rheumatoid arthritis.

Background though considered to have characteristics of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) theoretically, Rhupus Syndrome (RS) owns its unique clinical features. In this retrospective cross-sectional study, we included 41 newly diagnosed Rhupus syndrome patients (NRSP). 160 new-diagnosed systemic lupus erythematosus patients (NSLEP) and 709 new-diagnosed rheumatoid arthritis patients (NRAP) were admitted as positive control groups.

ALG13-Related Epilepsy: Current Insights and Future Research Directions.

The ALG13 gene encodes a subunit of the uridine diphosphate-N-acetylglucosamine (UDP-GlcNAc) transferase enzyme, which plays a key role in the N-linked glycosylation pathway. This pathway involves the attachment of carbohydrate structures to asparagine (Asn) residues in proteins within the endoplasmic reticulum, by which N-glycosylated proteins produced participate a wide range of processes such as electrical gradients formation and neurotransmission. Mutations in the ALG13 gene have been identified as a causative factor for congenital disorders of glycosylation (CDG) and have been frequently associated with epilepsy in affected individuals.