Tweetable abstract Accurate variant interpretation has become a key bottleneck for the translation of an individual's pharmacogenome into actionable recommendations. We recommend an integrated use of multiplexed assays, structure-based predictions and biobank data to develop more accurate effect predictors.
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http://dx.doi.org/10.2217/pgs-2023-0187 | DOI Listing |
Sci Rep
December 2024
Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, China.
Warfarin is the most widely used oral anticoagulant in clinical practice. The cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex 1 (VKORC1), and cytochrome P450 4F2 (CYP4F2) genotypes are associated with warfarin dose requirements in China. Accurate genotyping is vital for obtaining reliable genotype-guided warfarin dosing information.
View Article and Find Full Text PDFAddict Behav Rep
June 2025
Department of Psychiatry and Behavioural Neurosciences, McMaster University, 100 West 5th St., Hamilton, ON L8N 3K7, Canada.
Background: The substance use crisis continues to progress. Medication for Opioid Use Disorder (MOUD) are prescribed to reduce opioid use and related harms; however, many individuals continue to use substances while on treatment. The objective of this study was to describe the temporal and demographic trends of the agreement between self-reported and urine tested substances.
View Article and Find Full Text PDFGynecol Oncol
December 2024
Université de Paris Cité, Paris CARPEM Cancer Institute, Paris, France; INSERM UMR-S 1147, University of Paris Cité, Centre de Recherche des Cordeliers, Paris, France.
Objective: To evaluate the prognostic impact of circulating tumor DNA (ctDNA) detection at diagnosis (T0) and its early decrease after one cycle (T1) of neoadjuvant chemotherapy (NACT) in patients with advanced epithelial ovarian cancer (EOC) included in the CHIVA trial (NCT01583322).
Methods: Blood samples were collected at T0 and before each administration of NACT. Circulating tumor DNA detection was performed by next-generation sequencing.
Genetics
November 2024
Department of Genome Sciences, University of Washington, Seattle, WA 98195-5065, USA.
The glucose-6-phosphate dehydrogenase (G6PD) enzyme protects red blood cells against oxidative damage. Individuals with G6PD-impairing polymorphisms are at risk of hemolytic anemia from oxidative stressors. Prevention of G6PD deficiency-related hemolytic anemia is achievable by identifying affected individuals through G6PD genetic testing.
View Article and Find Full Text PDFFront Pharmacol
October 2024
Department of Pediatrics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
This report describes a pediatric case of isolated agranulocytosis occurring months after hematopoietic stem cell transplantation (HSCT). Secondary cytopenia, or secondary transplant failure, affects 10%-25% of HSCT recipients, with potential triggers including viral infection, graft-versus-host disease (GVHD), sepsis, and certain medications. Viral reactivation was ruled out based on negative PCR results, while GVHD and sepsis were ruled out based on the patient's clinical presentation.
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