Laboratory Informatics Approaches to Improving Care for Gender- Diverse Patients.

Improving care for gender-diverse (GD) patients necessitates developing informatics tools and approaches to support optimal laboratory testing. This requires increased functionality and standardization of laboratory information system/electronic health record and data collection processes. Data tailored to accommodate immediate clinical care and clinical decision support (CDS) also have an impact on interoperability and downstream data needs for patients.

Laboratory Data as a Potential Source of Bias in Healthcare Artificial Intelligence and Machine Learning Models.

Artificial intelligence (AI) and machine learning (ML) are anticipated to transform the practice of medicine. As one of the largest sources of digital data in healthcare, laboratory results can strongly influence AI and ML algorithms that require large sets of healthcare data for training. Embedded bias introduced into AI and ML models not only has disastrous consequences for quality of care but also may perpetuate and exacerbate health disparities.

Analysis of laboratory data transmission between two healthcare institutions using a widely used point-to-point health information exchange platform: a case report.

Objective: The objective was to identify information loss that could affect clinical care in laboratory data transmission between 2 health care institutions via a Health Information Exchange platform.

Materials And Methods: Data transmission results of 9 laboratory tests, including LOINC codes, were compared in the following: between sending and receiving electronic health record (EHR) systems, the individual Health Level Seven International (HL7) Version 2 messages across the instrument, laboratory information system, and sending EHR.

Results: Loss of information for similar tests indicated the following potential patient safety issues: (1) consistently missing specimen source; (2) lack of reporting of analytical technique or instrument platform; (3) inconsistent units and reference ranges; (4) discordant LOINC code use; and (5) increased complexity with multiple HL7 versions.

Hemoglobin β-Globin Variants In Hispanic Patients: An Institutional Experience From Dallas, Texas.

Hemoglobinopathies are the most common single-gene disorders in humans. There are 1,424 variants of human hemoglobin described with 951 involving the β-globin gene. Ancestry and geography play a significant role in the incidence and nature of hemoglobinopathies, with African, Asian, and Mediterranean populations and their descendants being amongst the most affected.

Paediatric clinical decision support: Evaluation of a best practice alert for red blood cell transfusion.

Background And Objectives: Providing red blood cell (RBC) transfusion to paediatric patients with a haemoglobin (Hb) level of <7 g/dL is the current best practice, but it is often difficult to ensure appropriateness of RBC transfusion on a health system level. Electronic health record (EHR) clinical decision support systems have been shown to be effective in encouraging providers to transfuse at appropriate Hb thresholds. We present our experience with an interruptive best practice alert (BPA) at a paediatric healthcare system.

Digital pathology and artificial intelligence as the next chapter in diagnostic hematopathology.

Digital pathology has a crucial role in diagnostic pathology and is increasingly a technological requirement in the field. Integration of digital slides into the pathology workflow, advanced algorithms, and computer-aided diagnostic techniques extend the frontiers of the pathologist's view beyond the microscopic slide and enable true integration of knowledge and expertise. There is clear potential for artificial intelligence (AI) breakthroughs in pathology and hematopathology.

Adult mixed phenotype acute leukemia (MPAL): B/myeloid MPAL is distinct from other MPAL subtypes.

Introduction: Myeloperoxidase (MPO) is considered a specific marker of myeloid/non-monocytic lineage in the diagnosis of mixed phenotype acute leukemia (MPAL). However, the clinical significance of isolated dim MPO expression in otherwise typical B lymphoblastic leukemia (B-ALL; referred to as B/myeloid MPAL ) in adult patients is unknown.

Methods: We compared flow cytometric immunophenotype and clinicopathological findings among cases of B/myeloid MPAL (n = 13), other MPAL subtypes (n = 10, B/myeloid and T/myeloid MPAL), B-ALL (n = 64), and acute myeloid leukemia (AML, n = 58), using the 2016 WHO classification.

A Combined Biomarker of Bright CD38 and MYC ≥55% Is Highly Predictive of Double-/Triple-Hit High-Grade B-Cell Lymphoma.

Objectives: Diagnosis of high-grade B-cell lymphoma with MYC and BCL2 or BCL6 rearrangements (double-/triple-hit lymphoma [DTHL]) appears to mandate fluorescence in situ hybridization (FISH) testing for all large B-cell lymphoma (LBCL). Given the low incidence of DTHL, we aimed to identify flow cytometry (FC) and immunohistochemistry (IHC) features of DTHL that could be used to develop an optimal screening strategy. This combined FC-IHC approach has not yet been studied.

Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice.

Chromosomal microarray analysis (CMA) frequently yields inconclusive results. We reexamined inconclusive CMA results from 33 previously tested patients and reached a definitive diagnosis in 3 (9.1%) and identified the need for additional testing in 4 (12.

Transfusion-Transmitted Malaria: Two Pediatric Cases From the United States and Their Relevance in an Increasingly Globalized World.

In non-endemic settings, transfusion-transmitted malaria (TTM) is rare but potentially fatal and becoming more common with globalization. We present two pediatric cases that demonstrate donor screening using questionnaires is subject to error and that TTM should be considered with fever following numerous transfusions in children, particularly sickle cell patients.

Harnessing the Electronic Health Record and Computerized Provider Order Entry Data for Resource Management During the COVID-19 Pandemic: Development of a Decision Tree.

Background: The COVID-19 pandemic has resulted in shortages of diagnostic tests, personal protective equipment, hospital beds, and other critical resources.

Objective: We sought to improve the management of scarce resources by leveraging electronic health record (EHR) functionality, computerized provider order entry, clinical decision support (CDS), and data analytics.

Methods: Due to the complex eligibility criteria for COVID-19 tests and the EHR implementation-related challenges of ordering these tests, care providers have faced obstacles in selecting the appropriate test modality.

Providing Inclusive Care for Transgender Patients: Capturing Sex and Gender in the Electronic Medical Record.

Background: Providing a positive patient experience for transgender individuals includes making the best care decisions and providing an inclusive care environment in which individuals are welcomed and respected. Over the past decades, introduction of electronic medical record (EMR) systems into healthcare has improved quality of care and patient outcomes through improved communications among care providers and patients and reduced medical errors. Promoting the highest standards of care for the transgender populations requires collecting and documenting detailed information about patient identity, including sex and gender information in both the EMR and laboratory information system (LIS).

Comparison of the platelet activation status of single-donor platelets obtained with two different cell separator technologies.

Background: The microparticle content (MP%) of apheresis platelets-a marker of platelet activation-is influenced by donor factors and by external stressors during collection and storage. This study assessed the impact of apheresis technology and other factors on the activation status (MP%) of single-donor apheresis platelets.

Study Design And Methods: Data from six US hospitals that screened platelets by measuring MP% through dynamic light scattering (ThromboLUX) were retrospectively analyzed.

Reinterpretation of Chromosomal Microarrays with Detailed Medical History.

Objective: To investigate the utility of a detailed medical history in the interpretation of chromosomal microarray results for pediatric patients with a constitutional disease.

Study Design: A retrospective review and reinterpretation of test results from chromosomal microarrays performed from 2011 to 2013. Previously reported genetic variants were reanalyzed after review of the patient's complete electronic medical record (cEMR).

A synthetic heparinoid blocks Tau aggregate cell uptake and amplification.

Tau aggregation underlies neurodegeneration in Alzheimer's disease and related tauopathies. We and others have proposed that transcellular propagation of pathology is mediated by Tau prions, which are ordered protein assemblies that faithfully replicate and cause specific biological effects. The prion model predicts the release of aggregates from a first-order cell and subsequent uptake into a second-order cell.

A Survey of LOINC Code Selection Practices Among Participants of the College of American Pathologists Coagulation (CGL) and Cardiac Markers (CRT) Proficiency Testing Programs.

Context.—: Biomedical terminologies such as Logical Observation Identifiers, Names, and Codes (LOINC) were developed to enable interoperability of health care data between disparate health information systems to improve patient outcomes, public health, and research activities.

Objective.

Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; : c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity.

We describe Hb Alcorn County, a heterozygous hemoglobin (Hb) variant, in a 6-month-old Hispanic male and his mother. DNA sequencing demonstrated a mutation on the gene [β40(C6)Arg→Thr; : c.122G>C (p.

Genomic Privacy.

Background: Genetic information is unique among all laboratory data because it not only informs the current health of the specific person tested but may also be predictive of the future health of the individual and, to varying degrees, all biological relatives.

Content: As DNA sequencing has become ubiquitous with decreasing cost, large repositories of genomic data have emerged from the domains of research, healthcare, law enforcement, international security, and recreational consumer interest (i.e.

Immunophenotyping by Multiparameter Flow Cytometry.

Multiparameter flow cytometry has become an indispensable tool for the diagnosis and classification of acute myeloid leukemia (AML). The basic method relies on the unique ability to detect immunophenotypic abnormalities on discrete subpopulations. The primary roles in the initial assessment of AML are to determine the immaturity of the leukemic population, define the lineage and the immunophenotypic aberrancies in blasts, and identify characteristic immunophenotypic features to predict important recurrent cytogenetic and genetic abnormalities and prognosis.

Characterization of the HBB: c.*233G > C Variant: No Evidence of a β-Thalassemic Phenotype.

β-Thalassemia (β-thal) results from homozygous or compound heterozygous inheritance of β-globin alleles that yield decreased or absent synthesis of the β chain. Disease is frequently severe, requiring lifelong transfusion therapy. Heterozygosity for a β-thal allele results in an asymptomatic carrier state with mild but characteristic hematological findings.