Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review.

Background: At present, there are few reports on 9q21.13 microdeletion syndrome, which is characterized by intellectual disability, epilepsy, autistic behaviour, and recognizable facial features, etc. The aim of this study is to enrich the phenotypic features of 9q21.

Ocean Acidification: Another Planetary Boundary Crossed.

Ocean acidification has been identified in the Planetary Boundary Framework as a planetary process approaching a boundary that could lead to unacceptable environmental change. Using revised estimates of pre-industrial aragonite saturation state, state-of-the-art data-model products, including uncertainties and assessing impact on ecological indicators, we improve upon the ocean acidification planetary boundary assessment and demonstrate that by 2020, the average global ocean conditions had already crossed into the uncertainty range of the ocean acidification boundary. This analysis was further extended to the subsurface ocean, revealing that up to 60% of the global subsurface ocean (down to 200 m) had crossed that boundary, compared to over 40% of the global surface ocean.

Recombinant Chitinase 3-like 1 Alleviates Liver Transplantation-induced Cold Ischemia/Reperfusion Injury by Promoting M2 Polarization of Kupffer Cells.

Background: Hepatic cold ischemia/reperfusion injury (IRI) significantly restricts graft utilization and adversely affects the prognosis of liver transplantation recipients. The overactivation of Kupffer cells (KCs) is recognized as a significant cellular response in hepatic IRI. This study aimed to investigate the potential of recombinant chitinase 3-like 1 (rCHI3L1) to regulate M2 polarization of KCs and alleviate hepatic cold IRI.

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.

Introduction: Individuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations. Traditional cytogenetic techniques are limited by their low resolution, whereas optical genome mapping offers enhanced capabilities for detecting chromosomal rearrangements and determining genomic localization and orientation. This study sought to evaluate the efficacy of optical genome mapping in identifying complex balanced chromosomal rearrangements that may contribute to fertility challenges.

A retrospective analysis comparing metagenomic next-generation sequencing with conventional microbiology testing for the identification of pathogens in patients with severe infections.

Introduction: The application value of metagenomic next-generation sequencing (mNGS) in detecting pathogenic bacteria was evaluated to promote the rational and accurate use of antibiotics. A total of 180 patients with severe infections were included in this study.

Methods: Based on their different symptoms, bronchoalveolar lavage fluid (BALF) or blood samples were collected for conventional microbiological testing (CMT) and mNGS.

Bibliometric and LDA analysis of acute rejection in liver transplantation: Emerging trends, immunotherapy challenges, and the role of artificial intelligence.

With the rising demand for liver transplantation (LT), research on acute rejection (AR) has become increasingly diverse, yet no consensus has been reached. This study presents a bibliometric and latent Dirichlet allocation (LDA) topic modeling analysis of AR research in LT, encompassing 1399 articles. The United States, Zhejiang University, and the University of California, San Francisco emerged as leading contributors, while Levitsky J and Uemoto SJ were key researchers.

The m6A modification of SOX18 leads to increased PTX3 and cardiomyocyte pyroptosis in sepsis-induced cardiomyopathy.

Sepsis-induced cardiomyopathy (SIC) is a rapidly progressing condition with poor prognosis in the absence of effective therapeutic interventions. Cardiomyocyte pyroptosis is a critical factor contributing to cardiac dysfunction in SIC. Currently, research on this mechanism remains unclear.

ANGPTL4 induces Kupffer cell M2 polarization to mitigate acute rejection in liver transplantation.

Acute rejection (AR) is a significant complication in liver transplantation, impacting graft function and patient survival. Kupffer cells (KCs), liver-specific macrophages, can polarize into pro-inflammatory M1 or anti-inflammatory M2 phenotypes, both of which critically influence AR outcomes. Angiopoietin-like 4 (ANGPTL4), a secretory protein, is recognized for its function in regulating inflammation and macrophage polarization.

Knowledge domain and frontier trends of artificial intelligence applied in solid organ transplantation: A visualization analysis.

Background: Solid organ transplantation (SOT) is vital for end-stage organ failure but faces challenges like organ shortage and rejection. Artificial intelligence (AI) offers potential to improve outcomes through better matching, success prediction, and automation. However, the evolution of AI in SOT research remains underexplored.

Midkine promotes thyroid cancer cell migration and invasion by activating the phosphatidylinositol 3 kinase/protein kinase B/mammalian target of rapamycin pathway.

Objective: Thyroid cancer (TC) therapy, which is routinely used at present, can improve patients' survival rates. However, lymph node metastasis results in a higher degree of TC malignancy in patients who experience recurrence and/or death. The elucidation of new mechanisms of TC metastasis can help identify new therapeutic targets.

Deciphering the oncogenic potential of ADAM9 in hepatocellular carcinoma through bioinformatics and experimental approaches.

Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related mortality worldwide. This study investigates the role and mechanisms of ADAM9 as a biomarker and potential therapeutic target in HCC. Utilizing RNA-sequencing data and clinicopathological characteristics from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases, we conducted survival and meta-analyses, functional enrichment, and immune infiltration studies.

GDF15 attenuates sepsis-induced myocardial dysfunction by inhibiting cardiomyocytes ferroptosis via the SOCS1/GPX4 signaling pathway.

Sepsis is a systemic inflammatory response syndrome triggered by infection, presenting with symptoms such as fever, increased heart rate, and low blood pressure. In severe cases, it can lead to multiple organ dysfunction, posing a life-threatening risk. Sepsis-induced cardiomyopathy (SIC) is a critical factor in the poor prognosis of septic patients, leading to myocardial dysfunction characterized by cell death, inflammation, and diminished cardiac function.

A mapped dataset of surface ocean acidification indicators in large marine ecosystems of the United States.

Mapped monthly data products of surface ocean acidification indicators from 1998 to 2022 on a 0.25° by 0.25° spatial grid have been developed for eleven U.

Irisin improves diabetic cardiomyopathy-induced cardiac remodeling by regulating GSDMD-mediated pyroptosis through MITOL/STING signaling.

Diabetic cardiomyopathy (DCM) is a common complication of diabetes mellitus (DM). However, the mechanisms underlying DCM-induced cardiac injury remain unclear. Recently, the role of cyclic GMP-AMP synthase/stimulator of interferon gene (cGAS/STING) signaling and pyroptosis in DCM has been investigated.

Integrative analysis reveals chemokines CCL2 and CXCL5 mediated shear stress-induced aortic dissection formation.

Background: Aortic dissection (AD) is a critical emergency in cardiovascular disease. AD occurs only in specific sites of the aorta, and the variation of shear stress in different aortic segments is a possible cause not reported. This study investigated the key molecules involved in shear stress-induced AD through quantitative bioinformatic analysis of a public RNA sequencing database and clinical tissue sample validation.

A clinical-radiomics nomogram based on multimodal ultrasound for predicting the malignancy risk in solid hypoechoic breast lesions.

Background: In routine clinical examinations, solid hypoechoic breast lesions are frequently encountered, but accurately distinguishing them poses a challenge. This study proposed a clinical-radiomics nomogram based on multimodal ultrasound that enhances the diagnostic accuracy for solid hypoechoic breast lesions.

Method: This retrospective study analyzed ultrasound strain elastography (SE) and automated breast volume scanner images (ABVS) of 423 solid hypoechoic breast lesions from 423 female patients in our hospital between August 2019 and May 2022.

Tetrahydrocurcumin ameliorates postinfarction cardiac dysfunction and remodeling by inhibiting oxidative stress and preserving mitochondrial function via SIRT3 signaling pathway.

Background: Myocardial infarction (MI) often leads to sudden cardiac death. Persistent myocardial ischemia increases oxidative stress and impairs mitochondrial function, contributing significantly to postinfarction cardiac dysfunction and remodeling, and the subsequent progression to heart failure (HF). Tetrahydrocurcumin (THC), isolated from the rhizome of turmeric, has antioxidant properties and has been shown to protect against cardiovascular diseases.

Mediating role of resilience between family functioning and quality of life in patients with advanced colorectal cancer.

To better understand the relationship between family functioning, resilience, and quality of life (including physical and mental component score, PCS and MCS) in patients with advanced colorectal cancer (CRC) to predict and improve their quality of life. A cross-sectional study was conducted in which a total of 165 patients with advanced colorectal cancer participated in a one-time survey. Measures included the Family Functioning Assessment Device, the 10-item Connor-Davidson Resilience Scale, and the SF-12 Health Survey Assessment Scale.

Predicting Extrathyroidal Extension in Papillary Thyroid Carcinoma Using a Clinical-Radiomics Nomogram Based on B-Mode and Contrast-Enhanced Ultrasound.

Papillary thyroid carcinoma (PTC) is the most common pathological type of thyroid cancer. PTC patients with extrathyroidal extension (ETE) are associated with poor prognoses. The preoperative accurate prediction of ETE is crucial for helping the surgeon decide on the surgical plan.

[Double-column Die-punch fractures of distal radius treated with butterfly plate fixation via Henry approach].

Objective: To explore clinical effect of open reduction and internal fixation with Henry's approach butterfly plate in treating double-column Die-punch fractures of distal radius.

Methods: From January 2018 to June 2021, 26 patients with double-column Die-column distal radius were treated with open reduction and internal fixation through Henry's surgical approach and using distal radius volar column plate(butterfly plate), including 14 males and 12 females, aged from 20 to 75 years old with an average age of (44.2±3.

The Ocean Carbon and Acidification Data System.

The Ocean Carbon and Acidification Data System (OCADS) is a data management system at the National Oceanic and Atmospheric Administration (NOAA) National Centers for Environmental Information (NCEI). It manages a wide range of ocean carbon and acidification data, including chemical, physical, and biological observations collected from research vessels, ships of opportunity, and uncrewed platforms, as well as laboratory experiment results, and model outputs. Additionally, OCADS serves as a repository for related Global Ocean Observing System (GOOS) biogeochemistry Essential Ocean Variables (EOVs), e.