EXO1's pan-cancer roles: diagnostic, prognostic, and immunological analyses through bioinformatics.

Cancer remains a leading cause of mortality worldwide, with human exonuclease 1 (EXO1) emerging as a key player in DNA repair and damage response pathways, critical for genomic stability and tumor evolution. The aim of this study was to conduct a comprehensive pan-cancer analysis to elucidate the multifaceted roles of EXO1 in various malignancies. Leveraging public databases including TCGA, GTEx, HPA, cBioPortal, UALCAN, STRING, CancerSEA and TISIDB database, we examined EXO1's expression, diagnostic potential, prognostic significance, mutational characteristics, functional roles, and immunological effects across different cancer types.

Effect of acupuncture in patients with postprandial distress syndrome: study protocol for a randomized controlled trial.

Background: Postprandial distress syndrome (PDS) is the prominent subtype in patients with functional dyspepsia (FD) and currently lacks a satisfactory treatment. Acupuncture has become a promising alternative and complementary therapy for managing FD. However, high-level clinical evidence supporting the use of acupuncture for FD is limited.

Application of Impulse Oscillometry Combined with Fractional Exhaled Nitric Oxide in Monitoring Asthma Control Levels in Children.

Purpose: To investigate whether Impulse Oscillometry (IOS) could more effectively monitor children with uncontrolled asthma and evaluate small airway function changes, while establishing a prediction model in combination with fractional exhaled nitric oxide (FeNO) to assist in clinical management and treatment of asthmatic children.

Patients And Methods: A retrospective study was conducted on 203 asthmatic children who were followed up in our hospital from August 2023 to August 2024. Patients were divided into controlled asthma group (n=80) and uncontrolled asthma group (n=123).

A Novel KMT2E Splicing Variant as a Cause of O'Donnell-Luria-Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype.

Introduction: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with KMT2E gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.

Methods: Trio whole-exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression.

Modeling epilepsy by loss-of-function of the CUG-binding protein Elav-like family member 2 in zebrafish with multi-omics analysis.

Background: The CUG-binding protein Elav-like family member 2 (CELF2) gene has been linked to the pathogenesis of epilepsy, but its precise role remains unclear. This study aimed to investigate the pathogenic mechanisms of CELF2 mutation in epilepsy, utilizing zebrafish models to explore its molecular pathways and biological impact.

Methods: Whole-exome sequencing was performed to identify CELF2 mutations associated with epilepsy.