The influence of the sample pCO2 on the rate of ammonia formation was studied with gas equilibrated blood samples, using different gas mixtures for the equilibration. The rate of increase in plasma ammonia concentration at a mean pCO2 of 62 mm Hg = 8.2 kPa (mean pH = 7.282) was significantly lower than at 36 mm Hg = 4.8 kPa (pH = 7.438). In CO2-depleted blood (pH > 8) ammonia formation was strongly accelerated. This was reversible by readjusting the pH to 7.4 by addition of Tris-HCl solution. In stoppered containers with or without enclosed atmospheric air, a decrease of blood pCO2 or an increase of pH values was not observed during storage over 15 minutes at 0 or 20 degrees C. Although this study confirms that the pCO2 (or rather the pH) is an important analytical influence quantity in the determination of plasma ammonia, strictly anaerobic processing of the blood samples is not necessary; the usual technique of transporting and preprocessing blood samples in partially filled and stoppered containers appears to be adequate. Mainly due to the deamination of intracellular AMP (1), the ammonia1) concentration in blood increases continuously after sampling. Rates of increase in plasma ammonia concentration have recently been investigated thoroughly with blood samples from healthy probands to define the maximum delay between sampling and separation of the blood cells that can be tolerated if the in vivo existing plasma ammonia concentration has to be measured (2). Strictly speaking, the guidelines for handling the blood samples (2) apply to blood stored under anaerobic conditions.(ABSTRACT TRUNCATED AT 250 WORDS)
Download full-text PDF |
Source |
---|
Orphanet J Rare Dis
January 2025
Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich- Heine University, Düsseldorf, Germany.
Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.
View Article and Find Full Text PDFHereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFJ Orthop Surg Res
January 2025
Department of Rheumatology and Immunology, Affiliated Hospital of Yangzhou University, Yangzhou University, No. 368 Hanjiang Middle Road, Yangzhou, Jiangsu, 225000, China.
Rheumatoid arthritis (RA), a chronic inflammatory joint disease causing permanent disability, involves exosomes, nanosized mammalian extracellular particles. Circular RNA (circRNA) serves as a biomarker in RA blood samples. This research screened differentially expressed circRNAs in RA patient plasma exosomes for novel diagnostic biomarkers.
View Article and Find Full Text PDFClin Epigenetics
January 2025
Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and 1st Faculty of Medicine of Charles University in Prague, U Nemocnice 499/2, 128 00, Prague, Czech Republic.
Background: Glioblastoma is the commonest malignant brain tumor and has a very poor prognosis. Reduced expression of the MGMT gene (10q26.3), influenced primarily by the methylation of two differentially methylated regions (DMR1 and DMR2), is associated with a good response to temozolomide treatment.
View Article and Find Full Text PDFBMC Nurs
January 2025
Faculty of Applied Medical Sciences in Alnamas, University of Bisha, 255, Al Nakhil, Al-Namas, 67714, Saudi Arabia.
Background: One of the best ways to impart important skills to trainees is through simulation-based training, which is more reliable than the conventional clinical examination method. It is used in pediatric nursing training to allow nurses to practice and improve their clinical and conversational skills during an actual child encounter. A heel-prick is a complex psychomotor task that requires skill and knowledge from the pediatric nurse performing the procedure while applying for the National Newborn Screening Program.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!