High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.

Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.

Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.

Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).

Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice.

Loss-of-function mutations in NOTCH1 were previously linked to thoracic aortopathy, a condition for which non-surgical treatment options are limited. Based on clinical proteome analysis, we hypothesized that mitochondrial fusion and biogenesis in aortic smooth muscle cells (SMCs) are crucial for regulating the progression of NOTCH1-related aortopathy. Here we demonstrate that SMC-specific Notch1 knockout mice develop aortic pathology, including stiffening, dilation and focal dissection.

Integrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders.

Digestive and psychiatric disorders tend to co-occur, yet mechanisms remain unclear. Leveraging genetic and transcriptomic data integration, we conduct multi-trait analysis of GWAS (MTAG) and weighted gene co-expression network analysis (WGCNA) to explore shared mechanism between psychiatric and gastrointestinal disorders. Significant genetic correlations were found between these disorders, especially in irritable bowel syndrome (IBS), gastroesophageal reflux disease (GERD), depression (DEP), and neuroticism (NE).

Atp24δ8, a p24 family member, regulates the unfolded protein response and ER stress tolerance in Arabidopsis.

ER stress activates the unfolded protein response (UPR), a critical mechanism for maintaining cellular homeostasis in plants. The p24 protein family is known to be involved in protein trafficking between the endoplasmic reticulum (ER) and the Golgi apparatus, but its role in ER stress remains unclear in plants. In this study, we found that Atp24δ8(delta8), a member of the δ-2 subclass of the p24 family, is significantly upregulated in response to tunicamycin-induced ER stress.

Efficacy of perioperative multimodal analgesia in minimally invasive thoracoscopic treatment for severe blunt chest trauma with hemopneumothorax.

This retrospective study evaluates the clinical impact of perioperative multimodal analgesia in the minimally invasive treatment of severe blunt chest trauma with hemopneumothorax using a thoracoscopic Ni-Ti shape memory embracing plate. A total of 100 patients with severe blunt chest trauma and moderate to severe hemopneumothorax treated at Hanyang Hospital affiliated with Wuhan University of Science and Technology from January 2019 to January 2022 were enrolled. Patients were divided into 2 groups: a control group (50 patients) receiving patient-controlled intravenous analgesia (PCIA), and a study group (50 patients) administered a multimodal analgesia regimen.