Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

The neurological manifestations of SHORT syndrome include intrauterine growth restriction, microcephaly, intellectual disability, hearing loss, and speech delay. SHORT syndrome is generally believed to be caused by PIK3R1 gene mutations and impaired PI3K-AKT activation. Recently, a clinical case report described a SHORT syndrome with a novel mutant in PRKCE gene encoding protein kinase Cε (PKCε).

DNAH10 mutation cause primary ciliary dyskinesia with defects of IDAf complex assembly and lung fibrosis manifestation.

Unlabelled: Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. Mutations in ciliary proteins underlie the disease, resulting in ciliary dysfunction. DNAH10 is an inner arm dynein heavy chain that has been shown to play a critical role in the movement of sperm flagella.

Cardiovascular adverse events associated with epidermal growth factor receptor tyrosine kinase inhibitors in mutated non-small cell lung cancer: systematic review and network meta-analysis.

Objective: To evaluate the risk of cardiovascular adverse events associated with epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors in patients with mutated non-small cell lung cancer (NSCLC).

Design: Systematic review and network meta-analysis.

Data Sources: PubMed, Embase, Web of Science, Scopus, Cochrane Central Register of Controlled Trials, and three clinical trial registries, from inception to 20 November 2024.

Role of pyroptosis in pregnancy-related diseases.

Pyroptosis, a form of programmed cell death characterized by inflammasome-mediated cellular swelling and membrane perforation. This pathway is involved in diverse pathophysiological processes, including inflammatory diseases and tumors. Notably, the role of pyroptosis in pregnancy-related diseases such as preeclampsia, recurrent spontaneous abortion, neonatal developmental dysplasia, preterm birth, and gestational diabetes mellitus has not been elucidated yet.

Effectiveness of Case-Based Narrative Medicine Education in the Standardized Training of Obstetric Residents.

Purpose: As the demand for humanistic and patient-centered care grows in clinical practice, integrating narrative medicine into residency training has become increasingly important. This study aimed to investigate the narrative competencies of obstetric residents undergoing standardized training and to evaluate the effectiveness of narrative medicine education empowered by case-based teaching in enhancing clinical practice and professional competency.

Patients And Methods: A total of 46 obstetric residents enrolled in standardized training programs between October 2021 and May 2024 were randomly assigned to either the experimental group (n = 23) or the control group (n = 23).

TRAF6 Exerts Tumor-Promoting Effects via Genetic and Autophagic Modulation in Gastric Cancer.

Autophagy plays a multifaceted role in tumorigenesis. However, the association between genetic variants in autophagy and gastric cancer susceptibility remains unclear. We evaluated the association between single-nucleotide polymorphisms (SNPs) of autophagy-related genes and gastric cancer risk using a cohort of 1,625 cases and 2,100 controls.

Preclinical development and a phase 1 trial of IMC001, an EpCAM-targeted CAR-T cell therapy, in patients with advanced gastric cancer.

Autologous EpCAM-targeted CAR-T cell therapy (IMC001) was developed for advanced gastric cancer (GC). This study evaluated the specificity, efficacy, and safety of IMC001 in preclinical models and a phase 1 dose-escalation/expansion trial in patients who had failed at least two lines of therapy. IMC001 specifically recognized EpCAM and exhibited potent anti-tumor activity in EpCAM tumor cells, xenograft models, and patient-derived organoids.

Association of ZNF608 Polymorphisms With House Dust Mite-Induced Allergic Rhinitis.

Background: Genetic factors contribute essentially to the pathophysiology of house dust mite (HDM)-induced allergic rhinitis. Previous studies mainly focused on the biological pathogenesis, but the heritability remains poorly explained.

Methods: A genome-wide gene association analysis (GWGAS) integrating joint-genetic variant effects at the gene level was initially conducted on allergic rhinitis, validated by differential gene expression analysis.

Calcium polyphosphate endows silk fibroin hydrogels with enhanced osteogenesis for bone function restoration.

Bone defect repair demands biomaterials that synergize mechanical robustness with osteogenesis potential. The biomaterial performance of conventional crystalline calcium phosphates is often constrained by poor aqueous solubility and slow resorption kinetics. Here, we studied amorphous, hydrophilic and bioactive calcium polyphosphate (CaPP) for the development of regenerated silk fibroin (RSF)-based composite hydrogels to address such challenges.

Osteocalcin Ameliorates CUMS-Induced Depressive-Like Behaviors by Reducing Mitochondrial Damage in Hippocampal Neurons.

Background: Depression is a common psychological disorder characterized by limited treatments. Osteocalcin (OCN), a bioactive protein that originates from bone tissue, has been implicated in emotional regulation and the reduction of oxidative stress in peripheral tissues. However, the precise mechanisms by which OCN functions within the central nervous system are still not fully understood.

Stabilizing Cu Active Center by Intramolecular Electron Transfer for Boosting Complete Glucose Electrooxidation.

The development of effective electrocatalysts for glucose (Glu) electro-conversion is highly desirable for sensing applications; however, is greatly plagued by unstable catalytic active centers during the catalytic process, leading to severe inactivation of active sites and incomplete Glu electrooxidation. Herein, we report a class of single-atom Pt-doped Cu-based metal-organic frameworks (MOFs) with stable high-valence Cu sites (CuO-MOF-Pt), achieving a complete oxidation of Glu and a milliampere current response toward Glu. We demonstrate that the -CN of MOF and Pt serve as electron-withdrawal sites to induce electron transfer of the Cu site, promoting the electrochemical generation of the stabilized Cu active center.

A new method for developing an efficient, regional semi-quantitative food frequency questionnaire.

Background And Objectives: To establish a new method for developing an efficient and region-specific semi-quantitative food frequency questionnaire (SQFFQ), and to make it a simple, effective and widely applicable measurement tool, this study takes Xi'an City, Shaanxi Province as a case study.

Methods And Study Design: For 129 common food items, an initial food frequency questionnaire (FFQ) and a 24-hour dietary recall survey (24hDR) are constructed, and a variety of methods are combined to improve the convenience and credibility of the questionnaire itself in the inspection process, and the reliability and validity test are carried out.

Results: A total of 367 questionnaires are collected in study, including FFQ and 24hDR at various correction stages, in a three-month interval, and finally a semi-quantitative food frequency questionnaire containing 104 food items is obtained.

Meta-analysis of gut microbiome reveals patterns of dysbiosis in colorectal cancer patients.

Colorectal cancer (CRC) is a malignant tumour in which dysbiosis of the gut microbiome is a contributing factor in the development of cancer. However, the species composition and species-specific changes in the gut microbiome related to CRC still require comprehensive investigation. There is a significant difference in gut microbiome between CRC patients and healthy individuals.

IFNGR1, IRF8 genetic polymorphisms modulate the susceptibility of non-tuberculous mycobacteria pulmonary disease and influence the patients' treatment outcomes and immune status.

Objective: To investigate the association of genetic polymorphisms in MB21D1 (Mab-21 domain-containing 1), TMEM173 (Transmembrane Protein 173), IFNB1 (Interferon beta 1), IFNGR1 (Interferon gamma receptor 1), IFNGR2 (Interferon gamma receptor 2), IRF3 (Interferon Regulatory Factor 3), and IRF8 (Interferon Regulatory Factor 8) with susceptibility to non-tuberculous mycobacteria pulmonary disease (NTM-PD) as well as their correlation with the treatment outcomes and immune status of patients.

Methods: Forty-four tagSNPs from the candidate genes were genotyped in a 2-phase cohort study including an initial discovery phase involving 707 NTM-PD patients and 726 healthy controls and a replication phase involving 357 NTM-PD patients and 400 controls. The frequencies and distributions of genotypes were compared between the case and control groups.

Bidirectional Mendelian randomization analysis of inflammatory factors and sleep related traits.

Backgrounds: Observational research has shown significant associations between inflammatory factors and sleep. Experimental studies suggested acute increase in the levels of inflammatory markers following sleep deprivation and sleep restriction. However, the causal association between inflammatory factors and sleep remains unclear in chronic and natural settings.

Immersion Phase Separation 3-Dimensional Printing for Strain-Stiffening Hydrogel Scaffolds.

Strain-stiffening hydrogels, which mimic the nonlinear mechanical behavior of biological tissues such as skin, arteries, and cartilage, hold transformative potential for biomedical applications. This study introduces immersion phase separation (IPS) 3-dimensional (3D) printing, an innovative technique that enables the one-step fabrication of strain-stiffening hydrogel scaffolds with intricate, hierarchical architectures. This technique addresses the long-standing challenge of balancing structural complexity and intrinsic mechanoresponsive behavior in traditional hydrogel fabrication methods.

Rapid UV-induced and robust methacrylated silk fibroin reinforced polyacrylamide-based triple-crosslinked hydrogels.

Developing durable hydrogels for cartilage replacement remains a critical challenge. UV-crosslinkable hydrogels from methacrylated silk fibroin (SFMA) or polyacrylamide (PAM) have shown great potential in biomedical applications. However, either pure SFMA or PAM hydrogels lack adequate strength for structural applications in vivo.

Milk-derived exosomes exert anti-inflammatory activity in lipopolysaccharide-induced RAW264.7 cells by modulating the TLR4/NF-κB and PI3K/AKT signaling pathways.

Inflammation is a protective response that occurs when the body is injured and is a primary pathological process that occurs in certain diseases, such as inflammatory bowel diseases, osteoarthritis and acute lung injury. Milk-derived exosomes (M-Exos) contain various physiologically active substances related to immunity. These substances can act on cells to lessen the damage attributed to inflammation.

Interface-assisted preparation of conductive MOF membrane/films.

Conductive metal-organic frameworks (C-MOFs) are crucial electronic materials owing to their distinctive structures and intrinsic conductivities. C-MOF thin films enhance device integration, charge transfer, and the overall performance. The interface-assisted method has been proven to be effective for preparing high-quality thin films of C-MOFs.

Leveraging large language models for preoperative prevention of cardiopulmonary bypass-associated acute kidney injury.

Background: Acute kidney injury (AKI) usually occurs after cardiopulmonary bypass (CPB) and threatens life without timely intervention. Early assessment and prevention are critical for saving AKI patients. However, numerical data-driven models make it difficult to predict the AKI risk using preoperative data and lack preventive measures.

Genome-Wide Identification of Gene Family in and Expression During Fruit Development.

Wolfberry ( L.) is a valued traditional medicinal plant and dietary supplement in China. The basic leucine zipper (bZIP) transcription factor (TF) family is a multifunctional group of regulatory proteins critical to plant biology, orchestrating processes such as growth and development, secondary metabolite biosynthesis, and stress responses to abiotic conditions.

Spatiotemporal effects of urban micro-scale built environment on cardiovascular diseases.

Cardiovascular disease (CVD) has become a significant threat to the health of urban populations, and the urban built environment, as a key determinant of cardiovascular health, affects residents through various dimensions including physical activity, urban pollution, mental health, and dietary habits. However, existing research predominantly focuses on macro-level geographic scales, with limited exploration of the potential impact of intra-urban microenvironments on CVD. This study focuses on the central area of Nanning, China, as the case study area, employing methods such as global spatial autocorrelation analysis, emerging spatiotemporal hotspot analysis, and spatiotemporal geographically weighted regression (GTWR) analysis to comprehensively examine the spatiotemporal associations between CVD and built environment elements.

Tobacco smoking exposure-mediated ELAVL1 regulates bladder cancer cell senescence via autophagy activation.

Tobacco smoking is a well-established risk factor for bladder cancer, which shows connection to cell senescence in various diseases. However, the regulatory mechanisms linking tobacco smoking exposure to senescence regulation in bladder cancer remain incompletely characterized. In this investigation, we demonstrated that the smoking carcinogen 4-aminobiphenyl (4-ABP) inhibited cell senescence while enhancing proliferative, invasive, and migratory capacities of bladder cancer cells, as evidenced by SA-β-gal staining, western blot and cell malignant phenotype experiments.

Variations in the Bacterial Ecosystems of Mosquito Populations - Haikou and Sanya Cities, Hainan Province, China, 2019.

Introduction: This study explores the midgut microbiota of mosquitoes in Haikou and Sanya cities, regions critical for understanding vector-borne disease dynamics in Hainan Province, China. It provides baseline data on microbial composition and examines their potential role in influencing mosquito biology and vector competence, while highlighting the need for further research into their association with vector-borne viral infections.

Methods: Adult mosquitoes were collected using light traps and human bait methods.