Genome-wide and phenome-wide studies provided insights into brain glymphatic system function and its clinical associations.

We applied an MRI technique diffusion tensor imaging along the perivascular space (DTI-ALPS) for assessing glymphatic system (GS) in a genome-wide association study (GWAS) and phenome-wide association study (PheWAS) of 40,486 European individuals. Exploratory analysis revealed 17 genetic loci significantly associating with the regional DTI-ALPS index. We found 58 genes, including and , which prioritized in the DTI-ALPS index subtypes and associated with neurodegenerative diseases.

Risk Factors for Symptoms in Patients With Heterotopic Gastric Mucosa in the Upper Esophagus.

This study is aimed at comparing the clinical characteristics and histological types of symptomatic and asymptomatic patients with heterotopic gastric mucosa in the upper esophagus (HGMUE) and exploring the factors influencing the occurrence and severity of laryngopharyngeal reflux (LPR) symptoms in these patients. HGMUE is a potential cause of LPR symptoms. This retrospective analysis evaluated 70 patients with HGMUE using a detailed questionnaire.

Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review.

Background: Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are more than 40 kinds of inborn metabolic defects that cause cardiomyopathy.

Survival outcomes, multidimensional prediction and subsequent therapy in patients with hormone receptor-positive advanced breast cancer receiving palbociclib: a real-world analysis.

Background: To date, the overall survival (OS) of hormone receptor-positive advanced breast cancer (ABC) treated with palbociclib has not been reported in Chinese patients. It still remains unclear what kind of patients may benefit in OS from palbociclib treatment and what the optimal sequential antineoplastic regimen is for those progressing on palbociclib. Therefore, we aimed to investigate the OS outcome of ABC patients receiving palbociclib, establish a predictive model to identify the potential candidates who may benefit from palbociclib and explore the ideal subsequent treatment strategy after palbociclib.

Local Structure Regulation for Oxygen Redox and Structure Stability of P2-Type Cathodes.

The local structure plays a crucial role in oxygen redox reactions, which boosts the capacity of layered oxide cathodes for sodium-ion batteries. While studies on local structural ordering have primarily focused on the intra-layer ordering, there has been limited research on the inter-layer stacking for the layered cathode materials for sodium-ion batteries. In this work, the impact of the intra-layer and inter-layer local structural regulation on anionic kinetics and the structure stability are explored through experimental analysis and theoretical calculations.