Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.

Heat wave exposure during pregnancy and neurodevelopmental delay in young children: A birth cohort study.

Introduction: Gestation is a critical period for fetal brain development, and extreme heat exposure during this stage may have adverse impact on neurodevelopment in children. However, current evidence is scarce.

Methods: We examined the associations between maternal exposure to heat wave during pregnancy and neurodevelopmental delay in young children in a birth cohort study of 67,453 child-mother pairs from Foshan, China.

Isomeric Covalent Organic Frameworks for High-Efficiency Photocatalytic CO Reduction: Substituent Position Effect.

The exploration of covalent organic frameworks (COFs) for high-efficiency photocatalytic CO reduction is urgently demanded. Herein, COF-based catalysts are constructed for the selective photoreduction of CO to CO via delicately designed isomeric monomers with substituent at the 4,5,9,10- positions (K) or 1,3,6,8-positions (A) of pyrene knots. The distinct substituted regions significantly affect the planarity of pyrene knots, resulting in COFs with different microstructures and photocatalytic activities.

1-Year Clinical Outcomes and the Impact of Procedural Configurations in Left Atrial Appendage Occlusion Patients.

Background: The clinical performance of left atrial appendage occlusion (LAAO) as a procedure and the long-term impact of its varied implantation configurations and anticoagulation regimens remain unclear.

Objectives: This study sought to provide data in routine practice from a prospective multicenter registry.

Methods: A total of 3,096 consecutive patients from 39 Chinese centers undergoing LAAO were enrolled between April 1, 2019, and October 31, 2020.

Mitochondrial Dysfunction and Cognitive Impairment in Schizophrenia: The Role of Inflammation.

Background And Hypothesis: The complex immune-brain interactions and the regulatory role of mitochondria in the immune response suggest that mitochondrial damage reported in schizophrenia (SZ) may be related to abnormalities observed in immune and brain functions.

Study Design: Mitochondrial DNA copy number (mtDNA CN), a biomarker of mitochondrial function, was assessed in peripheral blood leukocytes (PBLs) of 121 healthy individuals and 118 SZ patients before and after 8 weeks of antipsychotic treatment, and a meta-analysis related to blood mtDNA CN was conducted. Plasma C-reactive protein (CRP) levels in SZ patients were obtained from the medical record system.

"Hit a bottleneck": a convergent mixed-methods approach to the Influencing factors and experience of fertility intention among mothers of childbearing age with two children in mainland China.

Background: Fertility rates have been decreasing both worldwide and in China. Although current policies have been aimed at raising the birth rate in China, their overall effects have been unclear. Therefore, exploration of fertility intention and related influencing factors is crucial.

Autophagy defects at weaning impair complement-dependent synaptic pruning and induce behavior deficits.

Autophagy is crucial for synaptic plasticity and the architecture of dendritic spines. However, the role of autophagy in schizophrenia (SCZ) and the mechanisms through which it affects synaptic function remain unclear. In this study, we identified 995 single nucleotide polymorphisms (SNPs) across 19 autophagy-related genes that are associated with SCZ.

Propensity-matched study on locally advanced esophageal cancer: surgery versus post-operative radiotherapy.

Background: This study aims to delineate the long-term outcomes and recurrence patterns of locally advanced thoracic esophageal squamous cell carcinoma (TESCC) patients managed with or without postoperative radiotherapy (PORT).

Methods: A retrospective cohort from two academic centers, encompassing patients who initially underwent esophagectomy and were pathologically staged T3-4, was analyzed. Survival outcomes were constructed using Kaplan-Meier method, with survival significance was evaluated using the log-rank test.

CD57+ T Cell Transmigration Through Vascular Endothelial Cells is Enhanced by Tumor Necrosis Factor: A Novel Model of Cardiovascular Risk in People with HIV.

People with human immunodeficiency virus (PWH), despite achieving viral suppression through antiretroviral therapy, face increased risk and earlier onset of atherosclerotic cardiovascular diseases than the general population. CD57+ T cells can be readily recovered from atherosclerotic plaques and likely contribute to disease by targeting endothelial cells (ECs); however, the specific mechanisms facilitating the infiltration of these cells into plaques remain elusive. Here, we report the development of a novel assay to quantify T cell adhesion to and transmigration through a primary human vascular EC monolayer and show that CD57+ T cells preferentially adhere to and transmigrate through the monolayer.

From docking to dynamics: Unveiling the potential non-peptide and non-covalent inhibitors of M from natural products.

Motivation: This study aims to investigate non-covalent and non-peptide inhibitors of M, a crucial protein target, by employing a comprehensive approach that integrates molecular docking, molecular dynamics simulations, and top-hits activity predictions. The focus is on elucidating the non-covalent and non-peptide binding modes of potential inhibitors with M.

Methods: We employed a semi-flexible molecular docking methodology, binding score and ADME screening, which are based on structure, to screen compounds from CMNPD and HERB in silico.

attenuates radiation-induced cardiac hypertrophy and apoptosis by degrading in cardiomyocytes.

Radiation-induced heart disease (RIHD) is a severe delayed complication of thoracic irradiation (IR). Endonuclease/exonuclease/phosphatase family domain-containing 1 ( ) plays an important role in DNA damage repair, but its role in RIHD is less known. In this study, global knockout mice, C57BL/6J mice, and C57BL/6J mice overexpressing are treated with radiation at a total dose of 20 Gy or 0 Gy.

Identification of Autophagy-Related Biomarkers and Diagnostic Model in Alzheimer's Disease.

Alzheimer's disease (AD) is the most prevalent neurodegenerative disease. Its accurate pathogenic mechanisms are incompletely clarified, and effective therapeutic treatments are still inadequate. Autophagy is closely associated with AD and plays multiple roles in eliminating harmful aggregated proteins and maintaining cell homeostasis.

Elevated plasma matrix metalloproteinase 9 in schizophrenia patients associated with poor antipsychotic treatment response and white matter density deficits.

Oxidative stress and neuroinflammation contribute to schizophrenia (SCZ) pathology and may influence treatment efficacy. Matrix metalloproteinase 9 (MMP9) is a critical molecular node mediating the interaction between oxidative stress and inflammation, and so may influence treatment efficacy. Here we examined the associations of plasma MMP9 concentration with antipsychotic drug responses, clinical symptoms, and brain structure.

Radiation-Induced Endothelial Ferroptosis Accelerates Atherosclerosis via the DDHD2-Mediated Nrf2/GPX4 Pathway.

This study sought to explore potential roles of endothelial ferroptosis in radiation-associated atherosclerosis (RAA) and molecular mechanisms behind this phenomenon. Here, an in vivo RAA mouse model was used and treated with ferroptosis inhibitors. We found that the RAA group had a higher plaque burden and a reduction in endothelial cells with increased lipid peroxidation compared to the control group, while ameliorated by liproxstatin-1.

A broken network of susceptibility genes in the monocytes of Crohn's disease patients.

Genome-wide association studies have identified over 200 genetic loci associated with inflammatory bowel disease; however, the mechanism of such a large amount of susceptibility genes remains uncertain. In this study, we integrated bioinformatics analysis and two independent single-cell transcriptome datasets to investigate the expression network of 232 susceptibility genes in Crohn's disease (CD) patients and healthy controls. The study revealed that most of the susceptibility genes are specifically and strictly expressed in the monocytes of the human intestinal tract.

Single-nucleus chromatin landscape dataset of mouse brain development and aging.

The development and aging of the brain constitute a lifelong dynamic process, marked by structural and functional changes that entail highly coordinated cellular differentiation and epigenetic regulatory mechanisms. Chromatin accessibility serves as the foundational basis for genetic activity. However, the holistic and dynamic chromatin landscape that spans various brain regions throughout development and ageing remains predominantly unexplored.

Redox Synergy: Enhancing Gas Sensing Stability in 2D Conjugated Metal-Organic Frameworks via Balancing Metal Node and Ligand Reactivity.

Two-dimensional conjugated metal-organic frameworks (2D c-MOFs) have emerged as promising candidates in gas sensing, owing to their tunable porous structure and conductivity. Nevertheless, the reported gas sensing mechanisms heavily relied on electron transfer between metal nodes and gas molecules. Normally, the strong interaction between the metal sites and target gas molecule would result poor recovery and thus bad recycling property.

Antipsychotic drug-induced behavioral abnormalities in common carp: The potential involvement of the gut microbiota-brain axis.

The effects of antipsychotic drugs on aquatic organisms have received widespread attention owing to their widespread use and continued release in aquatic environments. The toxicological effects of antipsychotics on aquatic organisms, particularly fish, are unexplored, and the underlying mechanisms remain unelucidated. This study aimed to use common carp to explore the effects of antipsychotics (olanzapine [OLA] and risperidone [RIS]) on behavior and the potential mechanisms driving these effects.

2D Conjugated Metal-Organic Frameworks Bearing Large Pore Apertures and Multiple Active Sites for High-Performance Aqueous Dual-Ion Batteries.

2D conjugated metal-organic frameworks (2D c-MOFs) with large pore sizes and high surface areas are advantageous for adsorbing iodine species to enhance the electrochemical performance of aqueous dual-ion batteries (ADIBs). However, most of the reported 2D c-MOFs feature microporous structures, with few examples exhibiting mesoporous characteristics. Herein, we developed two mesoporous 2D c-MOFs, namely PA-TAPA-Cu-MOF and PA-PyTTA-Cu-MOF, using newly designed arylimide based multitopic catechol ligands (6OH-PA-TAPA and 8OH-PA-PyTTA).