Unlabelled: The completion of the human genome project and the accelerated discovery of genes responsible for single gene disorders will allow for the preventive screening of carriers and patients. Accuracy and reliability of analytic tests are major demands on technologies used in a diagnostic screening environment. The consistency of results and the potential of multiplexing suggest mass spectrometry as the method of choice for large-scale genetic screening programs. The added ability to analyze other large molecules such as peptides and proteins further underlines the versatility and usefulness of this technology. We describe the use of mass spectrometry for screening of sickle cell disease at the level of DNA and protein.
Conclusion: Analytic methods are needed for large-scale screening and diagnostic applications that are highly accurate, fully automated and cost-effective. The precise measurement of molecular weights and the use of high fidelity enzymes to produce diagnostic products make mass spectrometry the method of choice for DNA and protein screening procedures.
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http://dx.doi.org/10.1007/s00431-003-1343-3 | DOI Listing |
Anaesthesia
January 2025
Department of Anaesthesia and Perioperative Medicine, The Royal Brisbane and Women's Hospital, Brisbane, Australia.
Introduction: Evidence to support intra-operative lidocaine infusion regimens in patients with obesity is lacking, risking underdosing or toxicity. We aimed to measure the plasma concentrations of lidocaine and its active metabolites to develop a pharmacokinetic model and optimised dosing regimen in patients with obesity.
Methods: A standardised weight-based intravenous lidocaine regimen was administered to patients with a BMI ≥ 30 kg.
J Virol
December 2024
Key Laboratory of Animal Disease Diagnostics and Immunology, Ministry of Agriculture, MOE International Joint Collaborative Research Laboratory for Animal Health & Food Safety, College of Veterinary Medicine, Nanjing Agricultural University, Nanjing, Jiangsu, China.
Porcine circovirus type 2 (PCV2) is the primary causative agent of porcine circovirus-associated disease, clinically resulting in immunosuppression and co-infections with other pathogens in infected pigs. The mechanism of PCV2 infection remains unclear. In this study, we firstly found that the tetraspanin CD81 in PK-15 cells interacts with PCV2 Cap protein by using virus overlay protein-binding assay combined with mass spectrometry.
View Article and Find Full Text PDFAppl Environ Microbiol
December 2024
School of Microbiology, University College Cork, Cork, County Cork, Ireland.
Unlabelled: APC 4099, isolated from bees' gut, has been identified as a promising candidate for food biopreservation. Antimicrobial activity screening revealed a broad-spectrum inhibition potential, ranging from gram-positive pathogenic bacteria to fungi responsible for food spoilage. Genomic analysis identified biosynthetic gene clusters coding for several antimicrobial peptides and secondary metabolites.
View Article and Find Full Text PDFVet Q
December 2025
Faculty of Veterinary Medicine, Department of Small Animals, Ghent University, Merelbeke, Belgium.
Chronic Kidney Disease (CKD) is one of the most common conditions affecting felines, yet the metabolic alterations underlying its pathophysiology remain poorly understood, hindering progress in identifying biomarkers and therapeutic targets. This study aimed to provide a comprehensive view of metabolic changes in feline CKD across conserved biochemical pathways and evaluate their progression throughout the disease continuum. Using a multi-biomatrix high-throughput metabolomics approach, serum and urine samples from CKD-affected cats ( = 94) and healthy controls ( = 84) were analyzed with ultra-high-performance liquid chromatography-high-resolution mass spectrometry.
View Article and Find Full Text PDFClin Chem Lab Med
January 2025
70777 TUBITAK National Metrology Institute (TUBITAK UME), Kocaeli, Türkiye.
Objectives: An analytical protocol based on isotope dilution liquid chromatography-tandem mass spectrometry (ID-LC-MS/MS), which includes a peptide-based calibration strategy, was developed and validated for the determination of cardiac troponin I (cTnI) levels in clinical samples. Additionally, the developed method was compared with a protein-based calibration strategy, using cTnI serving as a model for low-abundant proteins. The aim is to evaluate new approaches for protein quantification in complex matrices, supporting the metrology community in implementing new methods and developing fit-for-purpose SI- traceable peptide or protein primary calibrators.
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