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Abstract Background Antimicrobial resistance (AMR) is a growing threat to public health, especially in low- and middle-income countries. This study aimed to identify multidrug-resistant (MDR) pathogens in clinical sample...

Abstract Background Although [¹⁸F]PSMA-1007 enables sensitive detection in prostate cancer, heterogeneity in PSMA expression and variable physiologic uptake can limit performance, whereas [¹⁸F]FAPI-42, targeting fi...

Abstract Cystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs. Despite cystinos...

BackgroundHeterozygous STAT3 protein variants acting by dominant-negative (DN), gain-of-function (GOF), or haploinsufficiency (HI) mechanisms have been associated with different clinical/immunological phenotypes. However...

Jianjin Zhang,1,* Yanhong Chen,1,* Xingyu Li,2,* Chaobo Feng,1 Jiapeng Li,1 Zhouyang Hu,1 Guoxin Fan,1 Xiang Liao1 1National Key Clinical Pain Medicine of China, Shenzhen Nanshan People’s Hospit...

Duchenne muscular dystrophy (DMD) is one of the most frequent and severe presentation of pediatric muscular dystrophies. There is great variability in the progression of the disease between DMD patients, even affected ma...

Abstract Immune checkpoint inhibitors (ICI) have transformed the treatment of metastatic malignancies, yet only 20–40% of unselected patients benefit. Peripheral blood could offer a minimally invasive and dynamic sourc...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

Head and neck squamous cell carcinoma (HNSCC) is characterized by frequent recurrence and poor survival, highlighting the need for reliable biomarkers for risk stratification and therapeutic guidance. Folate-mediated one...

BackgroundInterleukin-2–inducible T cell kinase (ITK) deficiency classically presents with EBV-driven lymphoproliferation and lymphoma, but emerging data suggest broader phenotypes of immune dysregulation. The pathogen...

Abstract Background The insular cortex (IC), a pivotal hub for pain signal integration, projects extensively to the thalamus. However, the functional role of its specific projection to the central medial thalamic nucleus...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...

Emmanuel Ifeanyi Obeagu1– 3 1Division of Haematology, Department of Biomedical and Laboratory Science, Africa University Mutare, Mutare, Zimbabwe; 2Department of Molecular Medicine and Haematology, School of Pathology,...

ABSTRACT Background Observational studies link insomnia to hippocampal atrophy, yet causal inference remains limited by confounding and reverse causality. While Mendelian randomization (MR) studies have explored sleep‐...

Abstract Insulin resistance (IR) has emerged as a metabolically relevant contributor to the development and progression of breast cancer (BC), with a case fatality of nearly 15%. IR mainly shows a relationship with obesi...

IntroductionThe ERCC2 gene, located on chromosome 19, is essential for transcription and DNA repair via its protein product, XPD. Mutations in ERCC2 cause disorders such as trichothiodystrophy-1, xeroderma pigmentosum, C...

ObjectiveTo systematically investigate a foodborne disease outbreak caused by Vibrio parahaemolyticus （V. parahaemolyticus） in Nantong City through epidemiological investigation， laboratory testing， whole-genome ...

Background/objectivesNeurofibromatosis type 1 (NF1) is a common genetic disorder often accompanied by cognitive, behavioral, and neurodevelopmental disorders. While tumor-related manifestations are well-documented, less ...

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...

Abstract Small-cell lung cancer (SCLC) has long been characterized by its aggressive clinical course and a deceptive initial sensitivity to chemotherapy that almost invariably yields to recalcitrant disease. Recent genom...

Abstract Background Diffuse large B-cell lymphoma (DLBCL) is an aggressive subtype of non-Hodgkin lymphoma. Fatty acid synthase (FASN) is a key lipogenic enzyme implicated in tumor progression, but its regulation in DLBC...

Clear cell renal cell carcinoma (ccRCC) is the most common and clinically aggressive malignancy of the urinary system, characterized by dysregulated signaling pathways and resistance to ferroptosis. Metallothionein-1 G (...

ObjectiveCongenital Hypogonadotropic Hypogonadism (CHH) is a rare disease with an extremely low incidence, and the outcomes of fertility induction therapy in CHH patients exhibit significant interindividual heterogeneity...