Serum phosphorylated tau 217 is a viable alternative to plasma for Alzheimer's disease diagnosis, though with some limitations, according to a study in Clinical Chemistry. The study found high correlations between serum and plasma p-tau217 levels, but absolute concentrations often differed, requiring matrix-specific cutoffs for clinical use.

Studies presented at the Association for Molecular Pathology meeting highlight the role of optical genome mapping in identifying genetic factors associated with recurrent pregnancy loss. Researchers from Dartmouth Hitchcock Medical Center and Queens University found that OGM can identify chromosomal changes and fragile sites contributing to RPL, which are often missed by conventional tests. This breakthrough could lead to better diagnostic approaches and a deeper understanding of RPL.

Ocean Dx's rapid sepsis test matched the gold standard in a clinical evaluation, showing 100% sensitivity and 100% specificity. The test, which detects more than 1,000 bacterial species from whole blood, provided results in five hours and tripled the number of infections identified compared with traditional blood cultures.

Researchers in Japan have developed a method to manufacture platelet-producing cells from induced pluripotent stem cells, which could lead to an unlimited supply of patient-derived platelets. The technique involves genetically engineering iPSCs from peripheral blood mononuclear cells, converting them into megakaryocytes and harvesting platelets from the megakaryocyte cultures. The study in Stem Cell Reports emphasizes the KAT7 protein's role in maintaining high platelet production and suggests that monitoring KAT7 levels could ensure quality control in clinical-scale production.

Metabolomic profiling has identified citrate as a potential diagnostic biomarker for anti-MDA5-positive dermatomyositis, a subtype of idiopathic inflammatory myopathy. The study found significant metabolic differences between patients and healthy controls, with alterations in beta-alanine metabolism. Citrate and PBMC dehydroepiandrosterone sulfate emerged as promising biomarkers, offering new insights into the disease's pathogenic mechanisms and potential therapeutic targets.

Stem cell transplantation and targeted therapies may improve survival for patients with myelodysplastic syndromes who experience hypomethylating agent failure, according to a study to be presented at a meeting of the American Society of Hematology. "Novel investigative options are urgently needed in this patient population," researchers said.

Radboudumc and Maastricht UMC+ are using a new genetic test for rare diseases that uses long-read genome sequencing to map a patient's entire DNA. This approach offers a more comprehensive view compared with traditional short-fragment methods, leading to a 10% increase in diagnoses for some rare diseases and potentially up to 15% with further research.

The FDA added a boxed warning about the possibility of serious liver injury to delandistrogene moxeparvovec, or Elevidys, a gene therapy for Duchenne muscular dystrophy, and restricted its use to ambulatory patients ages 4 and older. The changes follow reports of fatal liver injuries. The FDA called for liver function assessments before treatment and weekly monitoring for at least three months post-treatment.

Promega's microsatellite instability testing platform has received FDA approval as a companion diagnostic for Merck and Eisai's Keytruda-Lenvima combination to treat advanced endometrial carcinoma. The PCR-based assay evaluates MSI status in tumors, helping identify patients who may benefit from the therapy.

China's National Medical Products Administration has approved the PanTRKare NTRK1/NTRK2/NTRK3 Gene Fusion Detection Kit as a companion diagnostic for entrectinib for patients with NTRK fusion-positive solid tumors. The next-generation sequencing-based test was validated in a large-scale, multicenter study that found high accuracy, sensitivity and reproducibility.