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Abstract Background Carbapenem-resistant Citrobacter freundii is increasingly reported and recognized as an opportunistic host of mobile carbapenemase-encoding elements in healthcare-associated settings. However, lineage...

Multiple myeloma (MM) is best understood as a dynamically evolving genomic ecosystem shaped by inherited susceptibility, early oncogenic events, and continuous selective pressures. We propose an evolutionary genomics fra...

Abstract Subarachnoid hemorrhage (SAH) is an extremely lethal cerebrovascular emergency that can lead to severe long term neurological deficits. Modern research evidence indicates that the incidence of SAH varies signifi...

IntroductionIntestinal ischemia-reperfusion (I/R) injury, a common and severe clinical condition with high morbidity and mortality, burdens healthcare systems. Our previous investigations established that a nano-delivery...

Abstract Clinical text de-identification enables the use of electronic health records while protecting patient privacy, but public training data remain scarce and often have mismatched documentation styles. Recent works ...

Abstract Background  The genomic and epigenetic landscape of the gasdermin family across cancers, and its clinical relevance, remain incompletely defined.  Methods Multi-omics features of gasdermins across 33 cancer ty...

Stellaria Radix, known as Yinchaihu (YCH) in traditional Chinese medicine, is derived from the dried roots of Stellaria dichotoma L. var. lanceolata Bge. Despite its clinical importance in treating pediatric febrile cond...

Craniofacial morphogenesis is a highly coordinated developmental process governed by complex genetic and molecular interactions. Among these, the PAX family of transcription factors plays a pivotal role in the regulation...

The World Health Organization has identified ST23 carbapenem-resistant hypervirulent Klebsiella pneumoniae (CR-hvKP) as a critical public health threat. Through China’s national surveillance system (BRICS), we identifi...

Abstract Theileriosis, a tick-borne disease caused by apicomplexan parasites of the genus Theileria, poses a major constraint to livestock productivity worldwide. Existing chemotherapeutics are increasingly limited by ho...

BackgroundT cell receptor excision circle (TREC)-based newborn screening (NBS) for severe combined immunodeficiency (SCID) has improved early diagnosis, treatment, and survival of SCID infants and identified additional c...

Background22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge) affects 1/2,150 individuals. The deletion results in variable clinical phenotypes: thymic hypoplasia or aplasia, hypoparathyroidism, cardiac defects...

Galaxy is a widely used open-source platform for accessible, reproducible, transparent and scalable data analysis in the life sciences and beyond. Despite its growing adoption across domains, several misconceptions persi...

Clinical PresentationPatients with germline TET2 loss of function exhibit a syndrome of immunodeficiency, autoimmune lymphoproliferation, developmental delay, and predisposition to lymphoma. An 8-week-old infant was admi...

Abstract Endocrine therapy (ET) resistance in estrogen receptor positive (ER+) advanced breast cancer is often linked to ESR1 mutations, yet responses to oral selective ER degraders vary within mutant subgroups. Through ...

Abstract Background Dilated cardiomyopathy (DCM) is a leading cause of heart failure, often resulting in reduced ejection fraction and progressive cardiac dysfunction. Although up to half of idiopathic DCM can be linked ...

Abstract Mortality rates from breast cancer in young women have fallen considerably in high-income countries but continue to rise in low-income countries such as Morocco. Young women with breast cancer face unique challe...

Background Preimplantation genetic testing for aneuploidy (PGT-A) is used principally to identify embryos with whole chromosome aneuploidy, which are generally considered non-viable. Reports of healthy live births follow...

Introduction Understanding the relative risk of the fragile X messenger ribonucleoprotein 1 (FMR1) premutation (PM) versus the risk of the PM and parenting a child with fragile X syndrome (FXS) is critical for PM carrier...