Mayo Clinic Laboratory and Pathology Research Roundup: June 24

By Alyssa Frank • June 24, 2019

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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

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

Pediatric acute liver failure (ALF) is life threatening with genetic, immunologic, and environmental etiologies. Approximately half of all cases remain unexplained. Recurrent ALF (RALF) in infants describes repeated episodes of severe liver injury with recovery of hepatic function between crises. We describe bi-allelic RINT1 alterations as the cause of a multisystem disorder including RALF and skeletal abnormalities.

Published to PubMed This Week

• Reanalysis of the NCCN PD-L1 Companion Diagnostic Assay Study for Lung Cancer in the Context of PD-L1 Expression Findings in Triple-Negative Breast Cancer
  Breast Cancer Research
• Genes Associated with Bowel Metastases in Ovarian Cancer
  Gynecologic Oncology
• Quantitative Assessment of Trace-Element Contamination in Parenteral Nutrition Components
  JPEN. Journal of Parenteral and Enteral Nutrition
• Predictors of Postoperative Urinary Retention in Outpatient Minimally Invasive Hysterectomy
  Journal of Minimally Invasive Gynecology
• Deep Sequencing Across Germline Genome-Wide Association Study Signals Relating to Breast Cancer Events in Women Receiving Aromatase Inhibitors for Adjuvant Therapy of Early Breast Cancer
  Pharmacogenetics and Genomics
• Warthin-like Mucoepidermoid Carcinoma of the Parotid Gland: Unusual Morphology and Diagnostic Pitfalls
  Anticancer Research
• Clinical Characteristics and Outcomes of Richter Transformation: Experience of 204 Patients from a Single Center
  Haematologica
• Applying Time and Motion Methodology to Calculate Program Coordinator FTE
  Journal of Graduate Medical Education

Alyssa Frank

Alyssa Frank is a Marketing Segment Manager at Mayo Clinic Laboratories. She leads marketing strategies for product management and specialty testing. Alyssa has worked at Mayo Clinic since 2015.