Mayo Clinic Laboratory and Pathology Research Roundup: April 16

The Research Roundup provides an overview of the past week’s research from Mayo Medical Laboratories consultants, including featured abstracts and complete list of published studies and reviews.

Featured Abstract

Clinical and Pathological Phenotype of Genetic Causes of Focal Segmental Glomerulosclerosis in Adults

Focal segmental glomerulosclerosis (FSGS) is a histologic lesion resulting from a variety of pathogenic processes that cause injury to the podocytes. Recently, mutations in more than 50 genes expressed in podocyte or glomerular basement membrane were identified as causing genetic forms of FSGS, the majority of which are characterized by onset in childhood. The prevalence of adult-onset genetic FSGS is likely to be underestimated and its clinical and histological features have not been clearly described. A small number of studies of adult-onset genetic FSGS showed that there is heterogeneity in clinical and histological findings, with a presentation ranging from sub-nephrotic proteinuria to full nephrotic syndrome. A careful evaluation of adult-onset FSGS that do not have typical features of primary or secondary FSGS (familial cases, resistance to immunosuppression, and absence of evident cause of secondary FSGS) should include a genetic evaluation. Indeed, recognizing genetic forms of adult-onset FSGS is of the utmost importance, given that this diagnosis will have major implications on treatment strategies, selecting of living-related kidney donor and renal transplantation success. The study was published in Clinical Kidney Journal.

Published to PubMed This Week

• • • • • MR Elastography in Primary Sclerosing Cholangitis: Correlating Liver Stiffness with Bile Duct Strictures and Parenchymal Changes
          Abdominal Radiology
        • Science Moves Slowly
          Journal of the American College of Cardiology
        • Identification of Prosthetic Joint Infection Pathogens Using a Shotgun Metagenomics Approach
          Clinical Infectious Diseases
        • Desmoid Tumor
          Mayo Clinic Proceedings
        • Comparison of the Diagnostic Accuracy of Periprosthetic Tissue Culture in Blood Culture Bottles to Prosthesis Sonication Fluid Culture for Diagnosis of Prosthetic Joint Infection using Bayesian Latent Class Modeling and IDSA PJI Criteria for Classification
          Journal of Clinical Microbiology
        • Incidence, Admission Rates, and Predictors, and Economic Burden of Adult Emergency Visits for Acute Pancreatitis: Data From the National Emergency Department Sample, 2006 to 2012
          Journal of Clinical Gastroenterology
        • Evaluation of Revised International Staging System (R-ISS) for Transplant-Eligible Multiple Myeloma Patients
          Annals of Hematology
        • Iatrogenic Pulmonary Lesions
          Seminars in Diagnostic Pathology
        • A Robust Normalization Method for Zero-Inflated Count Data with Application to Microbiome Sequencing Data
          PeerJ
        • Immunohistochemistry in Diagnostic Parathyroid Pathology
          Endocrine Pathology
        • Clinical Impact of Cabin Altitude Restriction Following Aeromedical Evacuation
          Military Medicine