Genetic predisposition of an individual patient should be taken in account to choose the proper treatment. Implementation to clinical practice requires the development of rapid, high-throughput, and easy assays intended to detect single nucleotide polymorphisms. A detection kit intended to identify the hemostasis and folate cycle gene mutations G20210A FII, G1691A FV, G10976A FVII, G103T FXIII, C807T ITGA2, T1565C ITGB3, 5G(-675)4G PAI, G(-455)A FGB, C677T and A1298C MTHFR, A2756G MTR, A66G MTRR was suggested in this work. The method is based on the polymerase chain reaction and subsequent melt curve analysis of the complexes of amplicons with specific probe. Three single nucleotide polymorphisms can be identified in one tube using our detection kit that increases the productivity of the analysis in the clinical use. Different types of biological samples (buccal epithelium, saliva, plasma, serum, and urogenital swabs) can be used as the initial material for DNA isolation and further analysis by the method developed in this work.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Serum Folate Concentrations in Exclusively Breastfed Preterm Infants Who Received No Supplementary Oral Folic Acid After Discharge: A Prospective Cohort Study.
Nutrients
December 2024
Neonatal Intensive Care Unit, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich NR4 7UY, UK.
Adequate folate intake is required in preterm infants for rapid growth and development, but there is little evidence to back recommendations. We aimed to assess folate status in preterm infants at discharge and in early infancy, according to exposure to folate sources, particularly in those exclusively/predominantly breastfed. A prospective, multicenter, observational cohort study was conducted in the UK, involving 45 preterm infants <33 weeks' gestational age (GA) exclusively/predominantly fed human milk when approaching NICU (Neonatal Intensive Care Unit) discharge.
View Article and Find Full Text PDFEffect of plateletcrit and methylenetetrahydrofolate reductase (MTHFR) C677T genotypes on folic acid efficacy in stroke prevention.
Signal Transduct Target Ther
May 2024
Cardiovascular Department, The Eighth Affiliated Hospital, Joint Laboratory of Guangdong-Hong Kong-Macao Universities for Nutritional Metabolism and Precise Prevention and Control of Major Chronic Diseases, Sun Yat-sen University, Shenzhen, China.
Previous studies have shown that low platelet count combined with high plasma total homocysteine (tHcy) increased stroke risk and can be lowered by 73% with folic acid. However, the combined role of other platelet activation parameters and the methylenetetrahydrofolate reductase (MTHFR) C677T genotypes on stroke risk and folic acid treatment benefit remain to be examined. This study aimed to investigate if platelet activation parameters and MTHFR genotypes jointly impact folic acid treatment efficacy in first stroke prevention.
View Article and Find Full Text PDFSuccessfully Managing Severe Anemia in a Trauma Patient Who Refused Blood Transfusion: A Case Report.
Am J Case Rep
October 2023
Division of Acute Care Surgery, Department of Surgery, Korea University Anam Hospital, Korea University School of Medicine, Seoul, South Korea.
BACKGROUND Surgical management in patients who undergo traumatic blood loss but who refuse blood transfusion can be challenging, but physicians and surgeons must comply with the wishes and beliefs of their patients. This report describes the management of severe anemia, with hemoglobin level of 2.5 g/dL, in a 71-year-old male Korean trauma patient who declined blood transfusion.
View Article and Find Full Text PDFA Cross-Sectional Study of the Haematological Profile of Patients With Chronic Liver Disease (CLD).
Cureus
June 2023
Pathology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University (SRHU), Dehradun, IND.
The liver keeps haematological parameters normal and preserves haemostasis by storing iron, vitamin B-12, and, folic acid, necessary for healthy haematopoiesis. Anaemia of various aetiologies affects approximately 75% of chronic liver disease (CLD) patients, specifically caused by iron deficiency, hypersplenism, chronic diseases, autoimmune haemolysis, folic acid deficiency, aplasticity, and as a side effect of antiviral drugs. This study sought to observe the derangements in haematological parameters in patients with CLD, analyse the spectrum of anaemia in patients with CLD, and predict CLD outcomes utilizing Child-Pugh Score.
View Article and Find Full Text PDFZOOMICS : comparative metabolomics of red blood cells from dogs, cows, horses and donkeys during refrigerated storage for up to 42 days.
Blood Transfus
July 2023
Department of Biochemistry and Molecular Genetics, University of Colorado Denver - Anschutz Medical Campus, Aurora, CO, United States of America.
Background: The use of omics technologies in human transfusion medicine has improved our understanding of the red blood cell (RBC) storage lesion(s). Despite significant progress towards understanding the storage lesion(s) of human RBCs, a comparison of basal and post-storage RBC metabolism across multiple species using omics technologies has not yet been reported, and is the focus of this study.
Materials And Methods: Blood was collected in a standard bag system (CPD-SAG-Mannitol) from dogs (n=8), horses, bovines, and donkeys (n=6).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!