Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting.

CYP2C19 genotyping to guide antiplatelet therapy after patients develop acute coronary syndromes (ACS) or require percutaneous coronary interventions (PCIs) reduces the likelihood of major adverse cardiovascular events (MACE). Evidence about the impact of preemptive testing, where genotyping occurs while patients are healthy, is lacking. In patients initiating antiplatelet therapy for ACS or PCI, we compared medical records data from 67 patients who received CYP2C19 genotyping preemptively (results >7 days before need), against medical records data from 67 propensity score-matched patients who received early genotyping (results within 7 days of need). We also examined data from 140 patients who received late genotyping (results >7 days after need). We compared the impact of genotyping approaches on medication selections, specialty visits, MACE and bleeding events over 1 year. Patients with CYP2C19 loss-of-function alleles were less likely to be initiated on clopidogrel if they received preemptive rather than early or late genotyping (18.2%, 66.7%, and 73.2% respectively, p = 0.001). No differences were observed by genotyping approach in the number of specialty visits or likelihood of MACE or bleeding events (all p > 0.21). Preemptive genotyping had a strong impact on initial antiplatelet selection and a comparable impact on patient outcomes and healthcare utilization, compared to genotyping ordered after a need for antiplatelet therapy had been identified.

MODERNA mRNA-1273 vaccine-associated myopericarditis in a patient with a subclinical autoimmune predisposition.

We present a rare case of myopericarditis developing one day after the injection of the second dose of the MODERNA mRNA-1273 vaccine (Cambridge, MA, USA). The patient complained of typical positional chest pain with initial laboratory results significant for elevated troponin, erythrocyte sedimentation rate, and C-reactive protein. Autoimmune predisposition was suggested by elevated anti-nuclear antibodies and anti-Sjögren's-syndrome-related antigen A autoantibodies titers. Subsequent cardiac magnetic resonance imaging (cMRI) revealed mild global hypokinesis with an ejection fraction of 48%, diffuse pericardial hyperenhancement suggestive of acute pericarditis, and T2-weighted short tau inversion recovery apical septal hyperenhancement suggestive of myocardial edema. Based on clinical, laboratory, and cMRI findings, a diagnosis of acute myopericarditis was made and the patient was treated with colchicine and ibuprofen with prompt resolution of symptoms. Vaccine-associated myopericarditis is rare, however, there have been reports of myocarditis developing after smallpox vaccination. The American College of Rheumatology has expressed concern about flaring or development of autoimmune inflammatory rheumatic disease (AIIRD) after COVID vaccination. Further studies are required to quantify AIIRD flaring/development including myopericarditis after mRNA-1273 vaccination. .

Cytogenetic Abnormalities in Myelodysplastic Syndromes: An Overview.

Karyotype is one of the main constituents of the International Prognostic Scoring System (IPSS) and revised-IPSS that are the cornerstones for the prognostication of patients with myelodysplastic syndromes (MDS). Del(5q), -7/del(7q), +8 and -Y are among the most extensively studied cytogenetic abnormalities in MDS. The same applies for normal karyotype. There are hundreds of other rare cytogenetic abnormalities that have been reported in MDS, included but not limited to -X, 3q abnormalities, +13/del(13q), i(17q), +21/-21. However, due to a very low number of patients, their impact on the prognosis of MDS is limited. Knowledge of the molecular consequences of different cytogenetic abnormalities allows us to modify treatment regimens based on drugs most active against the specific karyotype present, allowing for the opportunity to individualize MDS treatment and improve patient care and prognosis.