A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.

Background: Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.

Methods: We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families.

SNORA37/CMTR1/ELAVL1 feedback loop drives gastric cancer progression via facilitating CD44 alternative splicing.

Background: Emerging evidence shows that small nucleolar RNA (snoRNA), a type of highly conserved non-coding RNA, is involved in tumorigenesis and aggressiveness. However, the roles of snoRNAs in regulating alternative splicing crucial for cancer progression remain elusive.

Methods: High-throughput RNA sequencing and comprehensive analysis were performed to identify crucial snoRNAs and downstream alternative splicing events.

The endonuclease activity of MCPIP1 controls the neoplastic transformation of epithelial cells via the c-Met/CD44 axis.

The RNase activity of MCPIP1 is essential for regulating cellular homeostasis, proliferation, and tumorigenesis. Our study elucidates the effects of downregulation of MCPIP1 expression and an RNase-inactivating mutation (D141N) on normal epithelial kidney cells, indicating that MCPIP1 expression is a key factor that suppresses neoplastic transformation. We observed that either expression downregulation or mutation of MCPIP1 significantly increased its clonogenicity and altered the expression of cancer stem cell (CSC) markers and factors involved in epithelial-to-mesenchymal transition (EMT).

Identification and characterization of tumor and stromal derived liquid biopsy analytes in pancreatic ductal adenocarcinoma.

Background: The lack of predictive biomarkers contributes notably to the poor outcomes of patients with pancreatic ductal adenocarcinoma (PDAC). Cancer-associated fibroblasts (CAFs) are the key components of the prominent PDAC stroma. Data on clinical relevance of CAFs entering the bloodstream, known as circulating CAFs (cCAFs) are scarce.

Metabolomic in severe traumatic brain injury: exploring primary, secondary injuries, diagnosis, and severity.

Background: Traumatic brain injury (TBI) is a major public health concern worldwide, contributing to high rates of injury-related death and disability. Severe traumatic brain injury (sTBI), although it accounts for only 10% of all TBI cases, results in a mortality rate of 30-40% and a significant burden of disability in those that survive. This study explored the potential of metabolomics in the diagnosis of sTBI and explored the potential of metabolomics to examine probable primary and secondary brain injury in sTBI.

A review of the pathogenesis of mitochondria in breast cancer and progress of targeting mitochondria for breast cancer treatment.

With breast cancer being the most common tumor among women in the world today, it is also the leading cause of cancer-related deaths. Standard treatments include chemotherapy, surgery, endocrine therapy, and targeted therapy. However, the heterogeneity, drug resistance, and poor prognosis of breast cancer highlight an urgent need for further exploration of its underlying mechanisms.

TFE3-rearranged perivascular epithelioid cell tumors of the head and neck with rare fusion partners: clues to the differential diagnosis between benign and malignant tumors.

Background: Perivascular epithelioid cell tumors (PEComas) rarely appear in the head and neck region. This case report describes two transcription factor E3 (TFE3)-rearranged PEComa cases, consisting of one in the orbit and one in the nasal cavity.

Case Presentation: Both cases demonstrated sheet-like or focal nested architecture and comprised epithelioid cells with abundant clear to eosinophilic cytoplasm and vascular stroma.

Ascending aorta dilatation for pulmonary atresia with ventricular septal defect: a report of three adult cases.

Background: Patients with pulmonary atresia and ventricular septal defect (PA/VSD) are prone to progressive aortic dilation. However, there are relatively few reports of progressive development of aortic aneurysm or aortic dissection in adult patients who missed early corrective surgery.

Presentation Of Cases: Case 1: A 38-year-old man with PA/VSD and a bicuspid aortic valve (BAV), underwent VSD repair, aortic valve replacement, and PA correction at age 21.

Biometallic ions and derivatives: a new direction for cancer immunotherapy.

Biometallic ions play a crucial role in regulating the immune system. In recent years, cancer immunotherapy has become a breakthrough in cancer treatment, achieving good efficacy in a wide range of cancers with its specificity and durability advantages. However, existing therapies still face challenges, such as immune tolerance and immune escape.

Signatures of H3K4me3 modification predict cancer immunotherapy response and identify a new immune checkpoint-SLAMF9.

H3 lysine 4 trimethylation (H3K4me3) modification and related regulators extensively regulate various crucial transcriptional courses in health and disease. However, the regulatory relationship between H3K4me3 modification and anti-tumor immunity has not been fully elucidated. We identified 72 independent prognostic genes of lung adenocarcinoma (LUAD) whose transcriptional expression were closely correlated with known 27 H3K4me3 regulators.

Association between domain-specific physical activity and triglyceride‑glucose (TyG) index among US adults: Evidence from NHANES 2007-2018.

Objectives: The triglyceride-glucose (TyG) index is not only a reliable marker for insulin resistance, but also has broad applications in assessing the risk of various diseases, including cardiovascular disease, stroke, depression, and Alzheimer's disease. The study aims to investigate the relationship between domain-specific moderate- or vigorous-intensity physical activity (MVPA) and TyG index among US adults.

Methods: The participants from the US National Health and Nutrition Examination Survey (NHANES) (2007-2018) were included.

SIRT2 and ALDH1A1 as critical enzymes for astrocytic GABA production in Alzheimer's disease.

Background: Alzheimer's Disease (AD) is a neurodegenerative disease with drastically altered astrocytic metabolism. Astrocytic GABA and HO are associated with memory impairment in AD and synthesized through the Monoamine Oxidase B (MAOB)-mediated multi-step degradation of putrescine. However, the enzymes downstream to MAOB in this pathway remain unidentified.

Endocervical adenocarcinomas and HPV genotyping in an HIV endemic milieu - a retrospective study.

Background: Cervical cancer is the most prevalent cancer in Mozambique, with endocervical adenocarcinoma accounting for approximately 5.5% of cases. Knowledge regarding the most prevalent HPV genotypes in endocervical adenocarcinoma is limited, within this setting.

Clinical and imaging features of co-existent pulmonary tuberculosis and lung cancer: a population-based matching study in China.

Background: Co-existent pulmonary tuberculosis and lung cancer (PTB-LC) represent a unique disease entity often characterized by missed or delayed diagnosis. This study aimed to investigate the clinical and radiological features of patients diagnosed with PTB-LC.

Methods: Patients diagnosed with active PTB-LC (APTB-LC), inactive PTB-LC (IAPTB), and LC alone without PTB between 2010 and 2022 at our institute were retrospectively collected and 1:1:1 matched based on gender, age, and time of admission.

Molecular characterization of EBV-associated primary pulmonary lymphoepithelial carcinoma by multiomics analysis.

Background: Primary pulmonary lymphoepithelial carcinoma (pLEC) is a subtype of non-small cell lung cancer (NSCLC) characterized by Epstein-Barr virus (EBV) infection. However, the molecular pathogenesis of pLEC remains poorly understood.

Methods: In this study, we explored pLEC using whole-exome sequencing (WES) and RNA-whole-transcriptome sequencing (RNA-seq) technologies.

Molecular subtype of ovarian clear cell carcinoma: an analysis of 80 Chinese patients using the TCGA molecular classification of endometrial cancer.

Background: To assess the utility of the TCGA molecular classification of endometrial cancer in a well-annotated, moderately sized, consecutive cohort of Chinese patients with ovarian clear cell carcinoma (OCCC).

Methods: We performed DNA sequencing on 80 OCCC patients via a panel that contains 520 cancer-related genes. The TCGA molecular subtyping method was utilized for classification.

Preoperative CT lymph node size as a predictor of nodal metastasis in resectable Colon cancer: a retrospective study of 694 patients.

Purpose: This study aimed to investigate the efficacy of measuring lymph node size on preoperative CT imaging to predict pathological lymph node metastasis in patients with colon cancer to enhance diagnostic accuracy and improve treatment planning by establishing more reliable assessment methods for lymph node metastasis.

Methods: We retrospectively analyzed 1,056 patients who underwent colorectal resection at our institution between January 2004 and March 2020. From this cohort, 694 patients with resectable colon cancer were included in the study.

Optimal chemokine receptors for enhancing immune cell trafficking in adoptive cell therapy.

Recently, a strategy involving the engineering of chemokine receptors on immune cells was developed to optimize adoptive cell therapy (ACT) for solid tumors. Given the variability in chemokine secretion among different tumor types, identifying and modulating the appropriate chemokine receptors is crucial. In this study, we utilized extensive RNA sequencing data from both tumor tissues from The Cancer Genome Atlas and normal tissues from Genotype-Tissue Expression to investigate the expression profiles of chemokines.

The role of spatial processing in verbal serial order working memory.

In a sequence, at least two aspects of information-the identity of items and their serial order-are maintained and supported by distinct working memory (WM) capacities. Verbal serial order WM is modulated by spatial processing, reflected in the Spatial Position Association of Response Codes (SPoARC) effect-the left-beginning, right-end positional association between space and serial position of verbal WM memoranda. We investigated the individual differences in this modulation with both behavioral and neurobiological approaches.

Resolving tissue complexity by multimodal spatial omics modeling with MISO.

Spatial molecular profiling has provided biomedical researchers valuable opportunities to better understand the relationship between cellular localization and tissue function. Effectively modeling multimodal spatial omics data is crucial for understanding tissue complexity and underlying biology. Furthermore, improvements in spatial resolution have led to the advent of technologies that can generate spatial molecular data with subcellular resolution, requiring the development of computationally efficient methods that can handle the resulting large-scale datasets.

The human and non-human primate developmental GTEx projects.

Many human diseases are the result of early developmental defects. As most paediatric diseases and disorders are rare, children are critically underrepresented in research. Functional genomics studies primarily rely on adult tissues and lack critical cell states in specific developmental windows.

Separate orexigenic hippocampal ensembles shape dietary choice by enhancing contextual memory and motivation.

The hippocampus (HPC) has emerged as a critical player in the control of food intake, beyond its well-known role in memory. While previous studies have primarily associated the HPC with food intake inhibition, recent research suggests a role in appetitive processes. Here we identified spatially distinct neuronal populations within the dorsal HPC (dHPC) that respond to either fats or sugars, potent natural reinforcers that contribute to obesity development.

A Neuron-Like Cellular Model for Severe Tinnitus Associated with Rare Variations in the ANK2 Gene.

Tinnitus is the perception of sound without an external source, often associated with changes in the auditory pathway and different brain regions. Recent research revealed an overload of missense variants in the ANK2 gene in individuals with severe tinnitus. ANK2, encoding ankyrin-B, regulates axon branching and inhibits microtubule invasion.