The research roundup provides an overview of the past week’s research from Mayo Clinic Laboratories consultants, including featured abstracts and a complete list of published studies and reviews.
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Two large extended Amish families with multiple sudden deaths in young individuals and sudden cardiac arrests were included in the study. A recessive inheritance pattern was suggested based on an extended family history of sudden deaths in young individuals and sudden cardiac arrests, despite unaffected parents. A family with exercise-associated sudden deaths in young individuals occurring in 4 siblings was referred for postmortem genetic testing using an exome molecular autopsy. Via JAMA Cardiology.
Published to PubMed This Week
- Neural Epidermal Growth Factor-like 1 Protein (NELL-1) Associated Membranous Nephropathy.
- Malignant Epithelioid Angiomyolipoma of the Kidney (Malignant Perivascular Epithelioid Cell Neoplasm).
Mayo Clinic Proceedings
- Analysis of DNA Methylation in Endometrial Biopsies to Predict Risk of Endometrial Cancer.
Gynecology and Oncology
- Evaluating Infusate Parameters for Direct Drug Delivery to the Brainstem: A Comparative Study of Convection-Enhanced Delivery Versus Osmotic Pump Delivery.
- Incidence, Trends and Outcomes of Type 2 Myocardial Infarction in a Community Cohort.
- Blood Biomarkers as Surrogate Endpoints of Treatment Responses to Aerobic Exercise and Cognitive Training (ACT) in Amnestic Mild Cognitive Impairment: The Blood Biomarkers Study Protocol of a Randomized Controlled Trial (the ACT Trial).
- Secondary Acquisition of BCR-ABL1 Fusion in De Novo GATA2-MECOM Positive Acute Myeloid Leukemia with Subsequent Emergence of a Rare KMT2A-ASXL2 Fusion.
- Targeting Epigenetic Regulators in the Treatment of T-Cell Lymphoma.
Expert Review of Hematology
- Diffuse Right Ventricular Fibrosis in Heart Failure with Preserved Ejection Fraction and Pulmonary Hypertension.
ESC Heart Failure
- Response to Letter to the Editor on "Cobalt and Chromium Ion Release in Metal-on-Polyethylene and Ceramic-on-Polyethylene THA: A Simulator Study With Cellular and Microbiological Correlations".
Journal of Arthroplasty
- PD-L1 Expression in Anaplastic Large Cell Lymphoma.