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
Assessing the Usefulness of Activity Indexes of von Willebrand Factor to Predict Therapeutic Response in Hypertrophic Cardiomyopathy
Von Willebrand disease is the most common inherited bleeding disorder worldwide, caused by the missing or defective von Willebrand factor (vWF), a blood-clotting protein. In a recent study published in the American Journal of Cardiology, Mayo Clinic researchers assessed if vWF testing could reflect the natural history of progression in hypertrophic cardiomyopathy and could accurately reflect responses to medical treatment and possibly predict prognosis.
Phosphatidylinositol Phosphate Kinase PIPKIγ and Phosphatase INPP5E Coordinate Initiation of Ciliogenesis
Defective primary cilia are causative to a wide spectrum of human genetic disorders, termed ciliopathies. Although the regulation of ciliogenesis is intensively studied, how it is initiated remains unclear. Mayo Clinic researchers conducted a study to show that type Iγ phosphatidylinositol 4-phosphate (PtdIns(4)P) 5-kinase (PIPKIγ) and inositol polyphosphate-5-phosphatase E (INPP5E), a Joubert syndrome protein, localize to the centrosome and coordinate the initiation of ciliogenesis. PIPKIγ counteracts INPP5E in regulating tau-tubulin kinase-2 (TTBK2) recruitment to the basal body, which promotes the removal of microtubule capping protein CP110 and the subsequent axoneme elongation. The results revealed that PtdIns(4)P homoeostasis, coordinated by PIPKIγ and INPP5E at the centrosome/ciliary base, is vital for ciliogenesis by regulating the CEP164-dependent recruitment of TTBK2. The study was published in Nature Communications.
Published to PubMed This Week
- Tumor Eosinophil Infiltration and Improved Survival of Colorectal Cancer Patients: Iowa Women's Health Study
- Immunostains Used to Subtype Hepatic Adenomas Do Not Distinguish Hepatic Adenomas From Hepatocellular Carcinomas
American Journal of Surgical Pathology
- Clinical Course of Patients With Incidental Finding of 20q- in the Bone Marrow Without a Morphologic Evidence of Myeloid Neoplasm
American Journal of Hematology
- Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in 142 Untreated Multiple Myeloma Patients
Blood Cancer Journal
- Diabetes Mellitus is Associated With an Exocrine Pancreatopathy: Conclusions From a Review of Literature
- Vector Competence of the Blacklegged Tick, Ixodes Scapularis, for the Recently Recognized Lyme borreliosis spirochete Candidatus Borrelia mayonii
Ticks and Tick-borne Diseases
- Cardiovascular Manifestations of Renovascular Hypertension in Diabetic Mice
- Pulmonary Langerhans Cell Histiocytosis: An Update From the Pathologists' Perspective
Archives of Pathology & Laboratory Medicine
- Relationships Between Duplex Findings and Quality of Life in Long-Term Follow-Up of Patients Treated for Chronic Venous Disease
- Autoimmune Hemolytic Anemia in Children: Mayo Clinic Experience
Journal of Pediatric Hematology/Oncology