Buscar recursos académicos

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 ...

The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderth...

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...

Cytogenetics has long represented a critical component in the clinical evaluation of hematologic malignancies. Chromosome banding studies provide a simultaneous snapshot of genome-wide copy number and structural variatio...

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...

ABSTRACT Streptococcus gallolyticus subsp. gallolyticus (SGG) is a bacterial pathogen implicated in bacteremia and endocarditis and is often associated with colon tumors in elderly individuals. The development of colorec...

As the genomic profile across cancers varies from person to person, patient prognosis and treatment may differ based on the mutational signature of each tumour. Thus, it is critical to understand genomic drivers of cance...

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...

Background Major depressive disorder (MDD) is a common psychiatric disease and a leading cause of disability worldwide. Handgrip strength (HGS) as an objective physical fitness test is a practical index for identifying m...

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...

Evidence from both GWAS and clinical observation has suggested that certain psychiatric, metabolic, and autoimmune diseases are heterogeneous, comprising multiple subtypes with distinct genomic etiologies and Polygenic R...

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 ...

Background A new approach to estimating gene carrier rates was introduced in 2019, relying on the frequency of pathogenic/likely pathogenic (P/LP) variants from ClinVar in a large, population sequencing database (Genome ...

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...