A5046606265- Platelet Disorders and Treatments
- Blood groups and transfusion
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Venous Thromboembolism Diagnosis and Management
- Blood Coagulation and Thrombosis Mechanisms
- Blood disorders and treatments
- Heparin-Induced Thrombocytopenia and Thrombosis
- Acute Myeloid Leukemia Research
- Hemophilia Treatment and Research
- Hemoglobinopathies and Related Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Immunodeficiency and Autoimmune Disorders
- Renal Diseases and Glomerulopathies
- Eosinophilic Disorders and Syndromes
- Chronic Lymphocytic Leukemia Research
- Genomics and Rare Diseases
- Cell Adhesion Molecules Research
- Atrial Fibrillation Management and Outcomes
- Erythropoietin and Anemia Treatment
- Central Venous Catheters and Hemodialysis
- Complement system in diseases
- Blood properties and coagulation
- Gastrointestinal Bleeding Diagnosis and Treatment
- Vascular Malformations and Hemangiomas
- Protein Tyrosine Phosphatases
Mayo Clinic
2014-2025
WinnMed
2016-2025
Medical College of Wisconsin
2018-2024
Mayo Clinic in Arizona
2012-2024
Versiti Blood Center of Wisconsin
2018-2023
Medical Diagnostic Laboratories (United States)
2021-2023
Froedtert Hospital
2019
University of Rochester Medical Center
2016
Summary Currently, low molecular weight heparin (LMWH) is the guideline endorsed treatment of patients with cancer associated venous thromboembolism (VTE). While apixaban approved for acute VTE, there are limited data supporting its use in patients. The rationale and design this investigator initiated Phase IV, multicenter, randomized, open label, superiority trial assessing safety versus dalteparin VTE provided (ADAM-VTE; NCT02585713). main aim ADAM-VTE to test hypothesis that a...
The implementation of high-throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, platelet disorders (BTPD), revealed multiple genetic variants those disorders, them being uncertain pathogenicity when considering the accepted evidence (variant consequence, frequency control datasets, number reported patients, prediction models, functional assays). effort also resulted resources for gathering disease-causing...
Abstract Accurate and consistent sequence variant interpretation is critical to the correct diagnosis appropriate clinical management counseling of patients with inherited genetic disorders. To minimize discrepancies in curation classification among different laboratories, American College Medical Genetics Genomics (ACMG), along Association for Molecular Pathology (AMP), published standards guidelines variants 2015. Because rules are not universally applicable genes or disorders, Clinical...
ABSTRACT Introduction Von Willebrand factor (VWF) multimer analysis is essential for diagnosing and classifying von disease (VWD) but requires expert interpretation subject to inter‐rater variability. We developed an automated image pipeline using deep learning improve the reproducibility efficiency of VWF pattern classification. Methods trained a YOLOv8 model on 514 gel images (6168 labeled instances) classify patterns into 12 classes. The was validated 192 (2304 tested independent set 94...
The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear be heterogeneous. Except for a targeted molecular genotyping approach, there is no distinct or phenotype that has been specifically associated this particular gene mutation. Such heterogeneity could due variations in mutation genetic background different families. To understand the phenotypic heterogeneity, we thoroughly studied one...
Patients with hereditary/congenital platelet disorders (HPDs) have a broad range of clinical manifestations and laboratory phenotypes. We assessed the performance characteristics International Society on Thrombosis Haemostasis bleeding assessment tool (ISTH-BAT) clinically validated tests for diagnosis HPDs.The records 61 patients suspected HPDs were reviewed ISTH-BAT scores calculated.Nineteen (31%) had thrombocytopenia, 46 (75%) positive scores. Thirteen 17 prolonged PFA-100 (Dade Behring,...
von Willebrand disease (VWD) is associated with development of gastrointestinal (GI) vascular malformations that lead to chronic GI bleeding. Conventional management, including factor concentrate replacement and endoscopic ablation or bowel resection, does not consistently reduce hemorrhage. We describe three patients VWD for whom conventional management failed control retrospectively reviewed medical records After began treatment danazol, we observed long-term reductions in bleeding packed...
Hematologists are often needed to assist with the management of microangiopathic emergencies in pregnancy. A firm understanding diagnosis and preeclampsia severe features, hemolysis elevated liver enzyme low platelet syndrome, disseminated intravascular coagulation, which most common causes emergencies, is critical. However, being able consider when other (acute fatty pregnancy, congenital acquired thrombotic thrombocytopenic purpura, complement mediated microangiopathy, antiphospholipid...
To analyze the economic impact of testing for activated protein C resistance (APC-R) due to factor V Leiden (FVL) mutation with APC-R reflexive FVL genotyping (algorithmic approach) or alone.OptumLabs Data Warehouse (OLDW) data were used assess approaches. Insurance claims and in 2013 compared Mayo Clinic database. Centers Medicare & Medicaid Services diagnostic fee schedules assign costs.Of 19.3 million OLDW-covered individuals, 74,242 (0.385%) received 75,608 tests: APC-R, 2,265 (2.9%);...