Utilizing integrated bioinformatics and machine learning approaches to elucidate biomarkers linking sepsis to fatty acid metabolism-associated genes.

Sepsis, characterized as a systemic inflammatory response triggered by the invasion of pathogens, represents a continuum that may escalate from mild systemic infection to severe sepsis, potentially resulting in septic shock and multiple organ dysfunction syndrome. Advancements in lipidomics and metabolomics have unveiled the complex role of fatty acid metabolism (FAM) in both healthy and pathological states. Leveraging bioinformatics, this investigation aimed to identify and substantiate potential FAM-related genes (FAMGs) implicated in sepsis.

Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.

Background: Acephalic spermatozoa (AS) is a serious but rare reproductive genetic disorder that causes infertility in men. To date, only a few genes associated with AS defects have been identified, including the polyamine modulated factor 1 binding protein 1 (PMFBP1) gene. Consistent with this, PMFBP1 localizes to the head-neck connection, which bridges the implantation fossa and basal body.