T 728 / Toray - LARVOL DELTA

Recurrent Truncating PMS2 Variants in Microsatellite Stable Tumors Indicate a Significant Burden of PMS2CL Pseudogene Misalignment (USCAP 2025) - "We present a compendium of truncating PMS2 variants that occur within the high homology region with PMS2CL pseudogene. We show that most samples with these variants are MSS, including the hotspot PMS2 p.T728Afs*7 and p.L729Qfs*6 variants. These results suggest that many PMS2 exon 11-15 variants represent misalignment from PMS2CL."

Endometrial Cancer • Microsatellite Instability • Oncology • Solid Tumor • MSI • PMS2

A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus. (PubMed, Forensic Sci Med Pathol) - "We present this familial case to stress the necessity of postmortem genetic testing in such cases among forensic practices. Identifying those culprit gene variants can direct effective genetic counseling and personalized health management in family members (especially first-degree relatives) with high-risk genotypes."

Journal • Cardiovascular • Heart Failure • MYH11

The NICE Disease Severity Modifier: A Retrospective Analysis on Its Potential Impact on Previous Reimbursement Decisions in England (ISPOR-EU 2022) - "The 1.2x QALY weight would have applied to three appraisals (TA772, TA728, TA699)... This review identified five cancer therapy appraisals that might have qualified for a severity-based decision modifier. Four benefited from the original end-of-life criteria; for these, it remains unclear whether inclusion of a disease severity modifier would have affected the recommendation. For the treatment recommended without consideration of end-of-life criteria, the inclusion of a disease severity modifier would not have changed the recommendation."

NICE • Reimbursement • Retrospective data • Oncology

Characterisation of 17 Novel Von Willebrand Factor Missense Mutations (ISTH 2022) - " Site directed mutagenesis was used to create 17-novel point mutations (R5K, G39K, D47V, E197K, V343M, A631R, C996S, C1031S, A1250D, E1292D, E1615D, D1691E, T1728S, R1830C, G1890E, T2023A, E2353K) in the pcDNA-FL-VWF expression vector that encodes for full length VWF... The mutations G39R, D47V, A631T, C996S, G1890E all virtually abolished secretion of VWF, while mutations E1615D and E2353K reduced secretion. Interestingly co-transfection with wtVWF rescued expression to varying extents and mutant monomers could be incorporated into multimers and secreted. Endo H and immunofluoresce staining demonstrated retention of mutant VWF within the ER."

Hemophilia

How do medical students learn conceptual knowledge? High-, moderate- and low-utility learning techniques and perceived learning difficulties. (PubMed, BMC Med Educ) - "Students use a wide range of low-, moderate- and high-utility learning techniques. The use of learning techniques has an influence on the difficulties perceived by students. Therefore, they could benefit from knowing about and using high-utility learning techniques to facilitate their learning. Faculties should inform their students about effective learning and introduce them to useful learning techniques."

Journal

Arts for ageing well: a propensity score matching analysis of the effects of arts engagements on holistic well-being among older Asian adults above 50 years of age. (PubMed, BMJ Open) - "This study provided robust evidence to support a significant causal relationship between arts engagements and holistic well-being. Recommendations for art-based public health and elderly care research, practice and policy are discussed."

Clinical • Journal