Laboratory medicine
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HIV evolution during ART failures revealed by using long-read sequencing and bioinformatics tools
HIV resistance often leads to antiretroviral therapy (ART) failures, involving two crucial mutation categories: drug-resistance mutations (DRMs) and compensatory mutations. DRMs reside in HIV enzyme active sites (protease, ... -
The Relationship Between Neurosteroid Structures and Inhibition of Pyroptotic Lysis
Pyroptosis is a form of programmed cell death with inflammatory biologicalconsequences. In moderation, pyroptosis helps to regulate and maintain a healthy immune response in the presence of invading pathogens. However, ... -
A simple rapid flow cytometry assay to assess malaria vaccine responses in mice
Malaria is a global threat affecting nearly half of the world's population. Efforts to control the disease include vector control, accurate testing, and post-infection treatment. Despite substantial progress in these control ... -
Highly Saturated Transposon Sequencing identifies genes impacting Staphylococcus aureus pathogenesis in macrophages
Staphylococcus aureus is a facultative intracellular pathogen in many host cell types,facilitating its persistence in chronic infections. The genes contributing to intracellular pathogenesis have not yet been fully enumerated. ... -
Characterization of Thiomuscimol: A Novel Small Molecule Pyroptosis Inhibitor
Pyroptosis, a form of pro-inflammatory programmed cell death mediated by caspase- 1 and dependent on gasdermin D, is a crucial element of the innate immune response. Pyroptosis arises from activation of sensor proteins ... -
Retrospective Flow Cytometric Data Review of Classic Hodgkin Lymphoma Cases to Explore Disease Outcomes
Flow cytometry is an emerging method in detecting and diagnosing classic Hodgkin Lymphoma (cHL). There is increasing evidence that the tumor microenvironment (TME) plays a significant role in the prognosis and clinical ... -
Understanding Ovarian Cancer Risk: Pathogenic TP53 mutation burden in peritoneal fluid is associated with BRCA germline mutation status
Individuals with germline BRCA1 and BRCA2 mutations (BRCA carriers) have an increased risk of developing high-grade serous ovarian cancer (HGSOC), the most common and deadliest subtype of ovarian cancer. While HGSOC is ... -
Hedgehog signaling in Joubert syndrome
Joubert syndrome (JS) is a mostly recessive, neurodevelopmental condition diagnosed by the molar tooth sign (MTS) on axial brain imaging. Currently, >40 genes are associated with JS, all of which encode proteins that ... -
DNA Cleavage During Pyroptosis
Programmed cell death is a normal process in living organisms that removes damaged or infected cells. DNA fragmentation is an important aspect of some forms of programmed cell death, and is a well-recognized feature of ... -
Hematologic parameters and bone marrow flow cytometry features in patients with GATA2 and RUNX1 germline mutations ; Evaluation of frequency of 11q aberrations in patients with Burkitt-like lymphoma and other aggressive B cell lymphomas: correlation with histopathology and clinical characteristics
For patients presenting with cytopenias, the clinical presentation and histopathological distinction between an inherited (germline) bone marrow failure syndrome and an acquired bone marrow failure/myelodysplastic syndrome ... -
The spectrum of mosaic mutations in megalencephaly and other growth disorders by ultra-deep targeted next-generation sequencing (NGS)
This is a retrospective study aimed at analyzing genetic variants and levels of mosaicism identified in a cohort of patients clinically tested for brain and body overgrowth phenotypes between 2014 and 2019 through the ... -
Accurate quantification of placental (fetal) fraction by tissue specific cell-free DNA analysis.
Background:Noninvasive liquid biopsy analytes such as cell-free DNA (cfDNA) have advanced the field of precision medicine. It is most widely used in noninvasive prenatal testing (NIPT) to screen for untreatable aneuploidies ... -
Design and Development of Hemogram, a Web Application for a Remote Examination of Peripheral Blood Smears from Resource-Limited Clinics in Nepal
Examination of peripheral blood smears is a simple medical laboratory test that can provide signicant diagnostic information. Nevertheless, this test is manual, time-consuming, and demands highly experienced medical ... -
Inherited chromosomally integrated HHV-6 demonstrates tissue-specific RNA expression in vivo
Human herpesvirus-6A and 6B (HHV-6A, HHV-6B) are highly prevalent viruses unique in that they, besides Epstein-Barr virus, are the only human herpesviruses capable of chromosomal integration. When a chromosomal integration ... -
A Tale of Two Validations: Molecular Diagnostic Assays for the Detection of Clinically Significant Alterations
Laboratory developed tests (LDTs) have become an integral part of laboratory medicine with applications to a variety of complex genetic testing and are at the frontlines of clinical medicine. Proper validation and ... -
Contributions and Evolutionary Potential of ampC Mutations to confer Aztreonam Resistance in Pseudomonas aeruginosa
Aztreonam is a synthetic monobactam antibiotic that is increasingly used for chronic suppressive therapy in Cystic Fibrosis (CF) patients with Pseudomonas aeruginosa airway infection. P. aeruginosa can accumulate mutations ... -
Antibody Characterization for use in Clinical Mass Spectrometry
Many biomarkers in human serum are in low abundance. Immunoaffinity enrichment via anti-peptide antibody and analysis via liquid chromatography tandem mass spectrometry (LC-MS/MS) is an attractive workflow that depends on ... -
Validation of an ELISA Method for Epstein-Barr Virus Antibodies in Dried Blood Spot Specimens and Correlation of EBV Serology with DNA Detection and Cytomegalovirus Serology
Dried blood spot (DBS) technology offers several advantages over conventional liquid sample types in terms of cost, storage and stability especially in large population-based or field research. The Epstein-Barr virus (EBV) ... -
Regulation of Phenotypic Heterogeneity in Salmonella: Bifunctional Regulators, RcsB and YifA, Shape Flagellar Bistability
Heterogeneous expression of flagellar and invasion genes is crucial for Salmonella virulence. Such a division of labor enables an invasive subpopulation to trigger inflammation in the infected host and alter the gut ... -
Comparison of Clinical Features Between Inpatient and Outpatient Cases of Clostridium difficile Infection
The Microbiology Laboratories at Harborview Medical Center and the University of Washington Medical Center evaluated the Biofire FilmArray Gastrointestinal Panel, a multiplex PCR assay to conventional stool culture. The ...