A Winding Road to Health Care Equity in Sickle Cell Disease.

Sickle cell disease (SCD) is a genetic disorder where red blood cells sickle, causing anemia and pain. Historically linked to marginalized groups, SCD saw little progress in treatment strategies for decades. Addressing these requires holistic strategies including dedicated centers, education, patient inclusion, and tackling implicit bias.

History, Advances, and Challenges of Sickle Cell Disease Treatment.

Sickle cell disease (SCD) is marked by red blood cells that deform into a sickle shape, causing severe health complications. Historic neglect and slow therapeutic progress have left many, especially African descendants, vulnerable. Recent treatment strides include novel drugs and gene therapy, promising improved management.

Does a subset of mature T-cell leukemias with features akin to T-cell prolymphocytic leukemia but lacking rearrangement of the represent peripheral T-cell lymphoma, NOS in a leukemic phase?

In the current WHO classification, a T-cell prolymphocytic leukemia (T-PLL) diagnosis requires lymphocytosis of >5 × 109/L, evidence of monoclonality, and or rearrangement. However, the 2019 consensus document suggested that in the absence of rearrangement of -family, the presence of abnormalities involving chromosome 11 (11q22.3; ATM), chromosome 8 (idic(8)(p11), t(8;8), trisomy 8q), 5, 12, 13, 22, or a complex karyotype, as well as involvement specific sites (e.

Gamma-delta T-cell lymphoma of the central nervous system: A case report and review of the literature.

Primary T-cell lymphoma (TCL) of the central nervous system (CNS) is a rare and potentially aggressive entity. We describe a case of TCL presenting in the basal ganglia with γδ receptor expression and a remarkably aggressive clinical course. To the best of our knowledge, this is the fifth reported case of γδ TCL presenting in the CNS.

The role of molecular diagnostic testing for hemoglobinopathies and thalassemias.

Hemoglobin disorders are among the most common genetic diseases worldwide. Molecular diagnosis is helpful in cases where the diagnosis is uncertain and for genetic counseling. Protein-based diagnostic techniques are frequently adequate for initial diagnosis.

Clinical Validation of a Circulating Tumor Cell Assay Using Density Centrifugation and Automated Immunofluorescence Microscopy.

Objectives: The US Food and Drug Administration (FDA)-approved CELLSEARCH assay (Menarini Silicon Biosystems) for circulating tumor cells (CTCs) relies on expression of an epithelial cell adhesion molecule to enrich for CTCs. We sought to validate a CTC assay (RareCyte) for clinical use that instead collects a buffy coat preparation enriched for CTCs.

Methods: Normal peripheral blood specimens spiked with cultured breast and prostate cancer cells and 47 clinical samples were used to validate assay performance.

Micro-mechanical blood clot testing using smartphones.

Frequent prothrombin time (PT) and international normalized ratio (INR) testing is critical for millions of people on lifelong anticoagulation with warfarin. Currently, testing is performed in hospital laboratories or with expensive point-of-care devices limiting the ability to test frequently and affordably. We report a proof-of-concept PT/INR testing system that uses the vibration motor and camera on smartphones to track micro-mechanical movements of a copper particle.

A prospective, blinded study of a PF4-dependent assay for HIT diagnosis.

Heparin-induced thrombocytopenia (HIT) is a life-threatening, prothrombotic, antibody-mediated disorder. To maximize the likelihood of recovery, early and accurate diagnosis is critical. Widely available HIT assays, such as the platelet factor 4 (PF4) heparin enzyme-linked immunosorbent assay (ELISA) lack specificity, and the gold-standard carbon 14-labeled serotonin release assay (SRA) is of limited value for early patient management because it is available only through reference laboratories.

A Novel LC-MS/MS Assay for Quantification of Des-carboxy Prothrombin and Characterization of Warfarin-Induced Changes.

Warfarin is a narrow therapeutic index anticoagulant drug and its use is associated with infrequent but significant adverse bleeding events. The international normalized ratio (INR) is the most commonly used biomarker to monitor and titrate warfarin therapy. However, INR is derived from a functional assay, which determines clotting efficiency at the time of measurement and is susceptible to technical variability.

Venous Thromboembolism: Role of the Clinical Laboratory in Diagnosis and Management.

Background: Venous thromboembolism (VTE) is the third most common cause of cardiovascular illness and is projected to double in incidence by 2050. It is a spectrum of disease that includes deep venous thrombosis (DVT) and pulmonary embolism (PE). In February 2016, the American College of Chest Physicians provided updated management guidelines for DVT and PE to address some of the unresolved questions from the previous version and to provide recommendations related to newer anticoagulants.

Burkitt lymphoma of the maxilla in a HIV positive male - Presentation and review of diagnostic laboratory tests.

Burkitt lymphoma (BL) is a highly aggressive, B cell non-Hodgkin lymphoma (NHL) that is rare outside Africa. We report a case of HIV-associated BL originating in the right maxillary sinus in a 31-year-old Hispanic male living in Washington, USA. We also highlight the diagnostic challenges in arriving at the diagnosis when the patient initially presented with a painless right facial swelling.

Assessment of direct oral anticoagulant assay use in clinical practice.

There are no clear and consistent guidelines on how to utilize DOAC assays, and reports on the use of DOAC levels in clinical practice is limited. The objective of this study was to analyze why DOAC levels are ordered, how the results affect clinical decision-making, and to determine if DOAC assays are utilized appropriately. This was a retrospective chart review study analyzing 150 dabigatran, rivaroxaban, and apixaban levels performed at a single institution.

Comparison of Phenotypic Activated Protein C Resistance Testing With a Genetic Assay for Factor V Leiden.

Objectives: To compare the accuracy and reliability of phenotypic activated protein C resistance (aPC-R) assays with a genotypic assay for the factor V Leiden F5 p.R506Q (FVL) mutation.

Methods: Data were obtained from an electronic data warehouse for FVL testing performed at an academic institution with a large referral laboratory service.

The Next Generation in Detection of Leukemia-Associated Translocations.

This commentary highlights the article by Kim et al that suggests use of two different next-generation sequencing-based assays for detection of fusion RNAs in patients with acute leukemia.

Longitudinal associations of lymphocyte subsets with clinical outcomes in chronic fatigue syndrome.

Background: Chronic fatigue syndrome (CFS) is characterized by prolonged fatigue and other physical and neurocognitive symptoms. Some studies suggest that CFS is accompanied by disruptions in the number and function of various lymphocytes. However, it is not clear which lymphocytes might influence CFS symptoms.

Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.

Objectives: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders.

Methods: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail.

Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.

Thalassemia is among the most common genetic diseases worldwide. α-Thalassemia is usually caused by deletion of one or more of the duplicated HBA genes on chromosome 16. In contrast, most β-thalassemia results from point mutations that decrease or eliminate expression of the HBB gene on chromosome 11.

High-recovery visual identification and single-cell retrieval of circulating tumor cells for genomic analysis using a dual-technology platform integrated with automated immunofluorescence staining.

Background: Circulating tumor cells (CTCs) are malignant cells that have migrated from solid cancers into the blood, where they are typically present in rare numbers. There is great interest in using CTCs to monitor response to therapies, to identify clinically actionable biomarkers, and to provide a non-invasive window on the molecular state of a tumor. Here we characterize the performance of the AccuCyte®--CyteFinder® system, a comprehensive, reproducible and highly sensitive platform for collecting, identifying and retrieving individual CTCs from microscopic slides for molecular analysis after automated immunofluorescence staining for epithelial markers.

Clinical utility of a circulating tumor cell assay in Merkel cell carcinoma.

Background: Quantitation of circulating tumor cells (CTCs) has utility in managing breast, colon, and prostate carcinomas.

Objective: We sought to determine whether a commercially available CTC assay provides prognostic information in Merkel cell carcinoma (MCC), insight into treatment responses, or both.

Methods: We analyzed CTCs in 52 specimens from 34 patients with MCC.