Using gas chromatography-mass spectrometry (GC-MS), with selected ion monitoring, a method for measurement of cis-4-decenoate in dried blood spots was developed. Using this assay, the concentration of cis-4-decenoate was determined in blood spots taken from a control population, seven children with medium chain acyl CoA dehydrogenase (MCAD) deficiency who were well at the time of sample collection and an asymptomatic sibling of a child with MCAD deficiency. cis-4-Decenoate was elevated, above the control range, in all the children with MCAD deficiency and in the previously undiagnosed sibling. It is concluded that measurement of cis-4-decenoate in dried blood spots provides a reliable and sensitive test for MCAD deficiency, that could be used in screening programmes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/0009-8981(92)90333-l | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Volumetric Absorptive Microsampling in Toxicology.
Toxics
December 2024
Centro de Investigação em Ciências da Saúde (CICS-UBI), Universidade da Beira Interior, Av. Infante D. Henrique, 6200-506 Covilhã, Portugal.
Volumetric absorptive microsampling (VAMS) is an emerging technique in clinical and forensic toxicology. It is recognized as a promising alternative to traditional sampling methods, offering an accurate and minimally invasive means of collecting small volumes of biological samples, such as blood, urine, and saliva. Unlike conventional methods, VAMS provides advantages in terms of sample stability, storage, and transportation, as it enables samples to be collected outside laboratory environments without requiring refrigeration.
View Article and Find Full Text PDFLC-MS-Based Global Metabolic Profiles of Alternative Blood Specimens Collected by Microsampling.
Metabolites
January 2025
Department of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece.
Blood microsampling (BμS) has recently emerged as an interesting approach in the analysis of endogenous metabolites but also in metabolomics applications. Their non-invasive way of use and the simplified logistics that they offer renders these technologies highly attractive in large-scale studies, especially the novel quantitative microsampling approaches such as VAMs or qDBS. Herein, we investigate the potential of BµS devices compared to the conventional plasma samples used in global untargeted mass spectrometry-based metabolomics of blood.
View Article and Find Full Text PDFNewborn screening and the screening laboratory: past, present and future.
Eur Thyroid J
January 2025
A Heijboer, Department of Laboratory Medicine, Endocrine Laboratory, Amsterdam, 1105AZ, Netherlands.
Thyroid hormone (TH) is essential for brain development in utero and during the first two to three years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage.
View Article and Find Full Text PDFBibliometric analysis on the top one hundred cited studies on gastrointestinal endoscopy.
World J Gastrointest Endosc
January 2025
Department of Anesthesiology and Perioperative Medicine, Shanghai Fourth People's Hospital, School of Medicine, Tongji University, Shanghai 200434, China.
Background: Gastrointestinal endoscopy has been widely used in the diagnosis and treatment of gastrointestinal diseases. A great many of studies on gastrointestinal endoscopy have been done.
Aim: To analyze the characteristics of top 100 cited articles on gastrointestinal endoscopy.
Technical Note: Application of Luminol and Leucomalachite Green Tests to Wischnewsky Spots After Formalin Fixation.
Am J Forensic Med Pathol
January 2025
From the Section of Legal Medicine, Department of Social Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Wischnewsky spots are disseminated, dark lesions in gastric mucosa reflecting hemorrhage associated with fatal hypothermia, and are a phenomenon well known to forensic pathologists. We applied luminol and leucomalachite green tests to formalin-fixed gastric mucosa with Wischnewsky spots in autopsy cases of hypothermia. Both luminol and leucomalachite green tests showed positive reactions.
View Article and Find Full Text PDFWant 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!