Mayo Clinic Laboratory and Pathology Research Roundup: Feb. 22
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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
Method for Counting Tumor Budding in Colorectal Carcinoma Could Have Immediate and Powerful Prognostic Value in General Practice
In a recent study, Mayo Clinic researchers, in collaboration with other institutions, have shown that “high” tumor budding in patients with colorectal carcinoma (CRC) is independently associated with a significantly worse prognosis. CRC ranks second in cancer deaths among malignancies that affect both men and women in the United States. And tumor budding indicates an aggressive form of CRC and has been associated with poor outcomes in multiple studies. However, the methods of evaluation and the composition of study groups have been highly variable to date and, as such, are difficult to reproduce in clinical practice. The study was published in The American Journal of Surgical Pathology.
Featured Abstracts
Mutations in the Nuclear Bile Acid Receptor FXR Cause Progressive Familial Intrahepatic Cholestasis
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. In a recent study published in Nature Communications, Mayo Clinic researchers reported on four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein, and undetectable liver bile salt export pump (ABCB11) expression. The study results demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection.
Epidemiology of Aquaporin-4 Autoimmunity and Neuromyelitis Optica Spectrum
Objective Neuromyelitis optica (NMO) and its spectrum disorders (NMOSD) are inflammatory demyelinating diseases with a specific biomarker, aquaporin-4-IgG. Prior NMO/NMOSD epidemiological studies are limited by lack of aquaporin-4-IgG seroprevalence assessment, absence of population-based U.S. studies, and under-representation of blacks. To overcome these limitations, Mayo Clinic researchers sought to compare NMO/NMOSD seroepidemiology across two ethnically divergent populations with white (Caucasian) and Martinique (90% black) participants. The study, published in Annals of Neurology, reported the highest prevalence of NMO/NMOSD in any population, estimated it affects 16,000-17,000 in the U.S. (higher than previous predictions), and demonstrated it disproportionately affects blacks.
Published to PubMed This Week
- Metabotropic Glutamate Receptor Type 1 Autoimmunity: Clinical Features and Treatment Outcomes
Neurology - Factors Determining the Clinical Utility of Serial Measurements of Antineutrophil Cytoplasmic Antibodies Targeting Proteinase 3
Arthritis & Rheumatology - Leukocyte Chemotactic Factor 2 Amyloidosis (ALECT2) is a Common Form of Renal Amyloidosis Among Egyptians
Modern Pathology - A Single-Dose Crossover Pharmacokinetic Comparison Study of Oral, Rectal, and Topical Quetiapine in Healthy Adults
Clinical Pharmacokinetics - TRAPID or Trapped?
Annals of Emergency Medicine - Carbapenem- and Colistin-Resistant Enterobacter cloacae, Delta, Colorado, 2015
Antimicrobial Agents and Chemotherapy - Evaluation of the Check-Points Check MDR CT103 and CT103 XL Microarray Kits Using Preparatory Rapid Cell Lysis
Journal of Clinical Microbiology - The Past, Present and (Possible) Future of Serologic Testing for Lyme Disease
Journal of Clinical Microbiology - Mycobacterium and Aerobic actinomycetes Culture: Are Two Medium Types and Extended Incubation Times Necessary?
Journal of Clinical Microbiology - Predictors of Survival in Refractory Anemia With Ring Sideroblasts and Thrombocytosis (RARS-T) and the Role of Next-Generation Sequencing
American Journal of Hematology - Splenomegaly and Thrombosis Risk in Essential Thrombocythemia: The Mayo Clinic Experience
American Journal of Hematology - NAB2-STAT6 Gene Fusion in Meningeal Hemangiopericytoma and Solitary Fibrous Tumor
Journal of Neuropathology & Experimental Neurology - Calreticulin (CALR) Variant Stratified Driver Mutational Status and Prognosis in Essential Thrombocythemia
American Journal of Hematology - Young Investigator Challenge: Validation and Optimization of Immunohistochemistry Protocols for Use on Cellient Cell Block Specimens
Cancer Cytopathology - Best Test with Mediocre Results (at best!): A "Call to Arms" to Correct Clinician Knowledge Deficits in Transfusion Medicine
Transfusion - Safety and Outcomes of Percutaneous Biopsy of 61 Hepatic Adenomas
American Journal of Roentgenology - Outcomes of Artificial Urinary Sphincter Placement in Octogenarians
International Journal of Urology - Nodular Fasciitis of the Orbit: A Case Report Confirmed by Molecular Cytogenetic Analysis
Ophthalmic Plastic & Reconstructive Surgery
