Objective: To investigate the role of the pentose phosphate pathway (PPP) and circPLCE1 in fibroblast metabolism and intestinal fibrosis in Crohn's disease, hig
Objective: To diagnose the underlying cause of chronic diarrhea in a patient with significant weight loss and gastrointestinal symptoms, emphasizing the urgency
Objective: To analyze the clinical and molecular characteristics of CTNNA1 germline variants and their association with hereditary diffuse gastric cancer (HDGC)
CTNNA1 germline variants are linked to hereditary diffuse gastric cancer (HDGC), with truncating variants posing a moderate risk compared to CDH1 variants.
The study identifies the pathophysiological mechanism for CTNNA1-truncating variants, establishing them as key contributors to HDGC.
Clinical criteria for CTNNA1 genetic testing were proposed, enhancing the identification of individuals at risk for HDGC.
CTNNA1-truncating variants lead to increased likelihood of developing gastric cancer compared to wild-type individuals.
This research provides the largest dataset on CTNNA1-associated diseases, aiding in clinical management and variant classification.
Objective: To investigate the role of FOXM1 in epithelial disruption in eosinophilic esophagitis (EoE) and assess its potential as a therapeutic target, which m
Objective: To clarify the relationships among gut microbiome composition, diet, and the progression of chronic kidney disease (CKD), highlighting the significan
Objective: To share specific experiences and data from the Mayo Clinic on implementing a large panel liquid biopsy assay for comprehensive genomic profiling, in
Objective: To explore emerging frontiers in non-target screening across various fields and identify common challenges faced by researchers. Key Findings: Non-ta
Pituitary apoplexy, a rare endocrine emergency often triggered by hemorrhage in a pituitary adenoma, presents critical diagnostic challenges due to the severe v
Objective: To explore modern strategies for managing peri-operative dry eye and the role of Lacrifill® in ocular surface control. Key Findings: Core principles
A retrospective cohort study published in Medicine highlights the relationship between oxidative balance, systemic inflammation, and all-cause mortality in pati
A study published in BMJ Open by researchers from the National Institute of Arthritis and Musculoskeletal and Skin Diseases examined clinically significant fati
Gen Li, CEO of Phesi, highlights the transformative potential of digital twins in addressing the challenges faced in rare disease research. With over 72% of rar
The College of American Pathologists (CAP) has updated its cancer reporting protocols for head and neck cancers, enhancing clarity and specificity in pathology
A retrospective study analyzed treatment outcomes for uncomplicated acute sinusitis in over 520,000 commercially insured adults aged 18-64. Researchers found th
A multicenter study revealed that only 26.6% of patients adhered strongly to ophthalmic treatments, primarily due to communication challenges between patients a
EyeCare Partners, a St. Louis-based integrated eye care network, has improved patient outcomes through enhanced data sharing and collaborative care among ophtha
YUVEZZI™ (carbachol and brimonidine tartrate ophthalmic solution) 2.75%/0.1% has been launched by Tenpoint Therapeutics, Ltd. in the U.S. as a treatment for pre
