Mayo Clinic Laboratory and Pathology Research Roundup: January 13

By Samantha Rossi • January 13, 2020

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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.

Featured Abstract

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.

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Published to PubMed This Week

• Neural Epidermal Growth Factor-like 1 Protein (NELL-1) Associated Membranous Nephropathy.
  Kidney International
• 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.
  Neurosurgery Focus
• Incidence, Trends and Outcomes of Type 2 Myocardial Infarction in a Community Cohort.
  Circulation
• 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).
  Trials
• Secondary Acquisition of BCR-ABL1 Fusion in De Novo GATA2-MECOM Positive Acute Myeloid Leukemia with Subsequent Emergence of a Rare KMT2A-ASXL2 Fusion.
  Cancer Genetics
• 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.
  Modern Pathology

Samantha Rossi

Samantha Rossi is a Digital Marketing Manager at Mayo Clinic Laboratories. She supports marketing strategies for product management and specialty testing. Samantha has worked at Mayo Clinic since 2019.