Mayo Clinic Laboratory and Pathology Research Roundup: July 25
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The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including a featured article of the week, abstracts, and complete list of published studies and reviews.
Featured Study of the Week
Study Discovers Blacks More Predisposed to Neuromyelitis Optica Spectrum Disorders and Estimates Disease Afflicts 16,000 to 17,000 Americans
Neuromyelitis optica (NMO) is an autoimmune disease of water channels that predominantly damages astrocytes, specific cells in the brain. The injured astrocytes in turn cause secondary damage to myelin—the insulating sheath around nerve fibers. Hence, NMO and its spectrum disorders (NMOSD) are considered inflammatory demyelinating diseases (IDDs). Aquaporin-4–immunoglobulin G (AQP4-IgG) is the specific biomarker for NMOSD and most accurately diagnosed using a cell-based blood test. According to a multi-collaborative, population-based study on the epidemiology of NMOSD led by Mayo Clinic, an estimated 16,000 to 17,000 people in the U.S. are afflicted by the disease, especially among the black population. The study was published in the Annals of Neurology.
Published to PubMed This Week
- Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
Clinical Chemistry - Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience
Mayo Clinic Proceedings - Erratum to: A Novel Treatment Schedule for Rapid Completion of Surgery and Radiation in Early-Stage Breast Cancer
Annals of Surgical Oncology - Validation of a Projection-domain Insertion of Liver Lesions into CT Images
Academic Radiology
- Concurrent Human Papillomavirus-Positive Squamous Cell Carcinoma of the Oropharynx in a Married Couple
Case Reports in Otolaryngology - Natural Underlying mtDNA Heteroplasmy as a Potential Source of Intra-Person hiPSC Variability
EMBO Journal - Construction of Realistic Phantoms From Patient Images and a Commercial Three-Dimensional Printer
Journal of Medical Imaging
- von Willebrand Factor Abnormalities and Heyde Syndrome in Dysfunctional Heart Valve Prostheses
JAMA Cardiology - Symptomatic Ovarian Steroid Cell Tumor not Otherwise Specified in a Post-Menopausal Woman
Rare Tumors - Selected Antimicrobial Activity of Topical Ophthalmic Anesthetics
Translational Vision Science and Technology - Malignant Ureteroenteric Anastomotic Stricture Following Radical Cystectomy With Urinary Diversion: Patterns, Risk Factors, and Outcomes
Urologic Oncology
