GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.

Effective research and clinical application in audiology and hearing loss (HL) require the integration of diverse data, yet the absence of a dedicated database impedes understanding and insight extraction in HL. To address this, the Genetic Deafness Commons (GDC) is developed by consolidating extensive genetic and genomic data from 51 public databases and the Chinese Deafness Genetics Consortium. This repository comprises 5 983 613 variants across 201 HL genes, revealing the genetic landscape of HL and identifying six novel mutational hotspots within the DNA-binding domains of transcription factors.

Apigenin attenuated sepsis induced acute lung injury via polarizing macrophage towards M2 by blocking miR-146a →TLR7 interaction.

TLR7 (Toll-like receptor 7) has been indicated as an important sensor for single -stranded RNA contributes to systemic inflammation and mortality in acute lung injury (ALI), which is an acute diffuse inflammatory lung injury. Cumulative results show that macrophages contribute to the development and progression of ALI through the secretion of inflammatory cytokines/chemokines. Here we show that macrophage polarizes towards M1 phenotype and TLR7 signaling is activated in septic mice.

Evaluation of respiratory muscle dysfunction in patients with idiopathic pulmonary fibrosis: a prospective observational study with magnetic resonance imaging.

Objective: Respiratory muscle dysfunction in patients with idiopathic pulmonary fibrosis (IPF) is a big challenge for treatment and rehabilitation. To quantitatively assess diaphragm and chest wall dysfunction using dynamic Magnetic Resonance Imaging (Dyn-MRI) in patients with IPF.

Methods: Ninety-six patients with IPF and 50 gender- and age-matched controls were prospectively included and underwent D-MRI with a dynamic fast spoiled gradient-recalled echo sequence.

GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.

Sarcoidosis is a complex inflammatory disease with a strong genetic component. Here, we perform a genome-wide association study in 9755 sarcoidosis cases to identify risk loci and map associated genes. We then use transcriptome-wide association studies and enrichment analyses to explore pathways involved in sarcoidosis and use Mendelian randomization to examine associations with modifiable factors and circulating biomarkers.

Comparing oncologic outcomes of partial and radical nephrectomy for T2 renal cell carcinoma: a propensity score matching cohort study and an external multicenter validation.

Purpose: There is very limited evidence on the optimal surgical treatment for patients with larger T2 renal tumors. This study aims to evaluate the oncologic outcomes of partial nephrectomy (PN) and radical nephrectomy (RN) in T2 renal cell carcinoma (RCC).

Methods: A retrospective data analysis was conducted on T2 RCC patients who underwent PN or RN between 2004 and 2019 using the SEER database, and validated with data from multiple centers in China from 2014 to 2019.