Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.

Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.

Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.

Multiple time points of transcriptome analysis revealed altered genes involved in maintaining hibernation in the hypothalamus of .

Hibernation, an adaptive mechanism to extreme environmental conditions, is prevalent among mammals. Its main characteristics include reduced body temperature and metabolic rate. However, the mechanisms by which hibernating animals re-enter deep sleep during the euthermic phase to sustain hibernation remain poorly understood.

Treatment of pneumothorax and bronchopleural fistula by extracorporeal membrane oxygenation in a neonate: a case report.

Intractable pneumothorax secondary to bronchopulmonary fistula is a rare complication in neonates. We present the first report of a newborn with spontaneous pneumothorax and bronchopleural fistula treated with extracorporeal membrane oxygenation (ECMO). Positive pressure mechanical ventilation resulted in persistent air leakage from the bronchopleural fistula.

Deciphering single-cell heterogeneity and cellular ecosystem dynamics during prostate cancer progression.

Prostate cancer (PC) progresses from benign epithelium through pre-malignant lesions, localized tumors, metastatic dissemination, and castration-resistant stages, with some cases exhibiting phenotype plasticity under therapeutic pressure. However, high-resolution insights into how cell phenotypes evolve across successive stages of PC remain limited. Here, we present the Prostate Cancer Cell Atlas (PCCAT) by integrating ∼710,000 single cells from 197 human samples covering a spectrum of tumor stages.

Expanding the Landscape of Aging via Orbitrap Astral Mass Spectrometry and Tandem Mass Tag (TMT) Integration.

Aging results in a progressive decline in physiological function due to the deterioration of essential biological processes, such as transcription and RNA splicing, ultimately increasing mortality risk. Although proteomics is emerging as a powerful tool for elucidating the molecular mechanisms of aging, existing studies are constrained by limited proteome coverage and only observe a narrow range of lifespan. To overcome these limitations, we integrated the Orbitrap Astral Mass Spectrometer with the multiplex tandem mass tag (TMT) technology to profile the proteomes of three brain tissues (cortex, hippocampus, striatum) and kidney in the C57BL/6JN mouse model, achieving quantification of 8,954 to 9,376 proteins per tissue (cumulatively 12,749 across all tissues).