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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFISCT MSC committee statement on the US FDA approval of allogenic bone-marrow mesenchymal stromal cells.
Cytotherapy
January 2025
Osteoarthritis Research Program, Division of Orthopedic Surgery, Schroeder Arthritis Institute, University Health Network, Toronto, Ontario, Canada; Krembil Research Institute, University Health Network, Toronto, Ontario, Canada; Institute of Biomedical Engineering, University of Toronto, Toronto, Ontario, Canada; Department of Medicine, Division of Hematology, University of Toronto, Toronto, Ontario, Canada. Electronic address:
The December 2024 US Food and Drug Administration (FDA) approval of Mesoblast's Ryoncil (remestemcel-L-rknd)-allogeneic bone marrow mesenchymal stromal cell (MSC(M)) therapy-in pediatric acute steroid-refractory graft-versus-host-disease finally ended a long-lasting drought on approved MSC clinical products in the United States. While other jurisdictions-including Europe, Japan, India, and South Korea-have marketed autologous or allogeneic MSC products, the United States has lagged in its approval. The sponsor's significant efforts and investments, working closely with the FDA addressing concerns regarding clinical efficacy and consistent MSC potency through an iterative process that spanned several years, was rewarded with this landmark approval.
View Article and Find Full Text PDFEthanol and the Limitations of the Osmol Gap.
Ann Emerg Med
January 2025
Division of Medical Toxicology, University of Pittsburgh School of Medicine, Pittsburgh, PA.
Study Objective: The osmol gap can help detect and manage those with toxic alcohol exposure, and it is altered by all alcohols including ethanol. The optimal correction for ethanol that would allow accurate detection of an alternative alcohol is unclear.
Methods: We conducted a prospective cohort study to assess baseline variations in osmol gap, and then to assess the validity of 2 commonly used coefficients (correction factors) for ethanol.
Evaluating convalescent plasma therapy in severe COVID-19: a retrospective cohort study.
J Infect Dev Ctries
December 2024
Department of Pharmacology, School of Medicine, Kashan University of Medical Sciences, Kashan, Iran.
Introduction: Convalescent plasma (CP) therapy is a form of passive immunization which has been used as a treatment for coronavirus disease 2019 (COVID-19). This study aims to evaluate the efficacy and safety of CP therapy in patients with severe COVID-19.
Methodology: In this retrospective cohort study, 50 patients with severe COVID-19 treated with CP at Shahid Beheshti Hospital, Kashan, in 2019 were evaluated.
Sequels of COVID-19 in nephrology. Chronic kidney patients are more prone to hemodialysis need and mortality.
J Infect Dev Ctries
December 2024
Nephrology Department, UHC Mother Tereza, Tirane, Albania.
Introduction: Acute kidney injury involves inflammation and intrinsic renal damage, and is a common complication of severe coronavirus disease 2019 (COVID-19). Baseline chronic kidney disease (CKD) confers an increased mortality risk. We determined the renal long-term outcomes of COVID-19 in patients with baseline CKD, and the risk factors prompting renal replacement therapy (RRT) initiation and mortality.
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