Publications by authors named "M A Deberg"
Article Synopsis
- The study focuses on the lesser-known phenomenon of oligogenic coinheritance, where individuals carry multiple heterozygous pathogenic variants (PVs) related to cancer, as opposed to the more commonly researched single gene carriers.
- Researchers examined 10 patients aged 45 or younger who had multiple primary cancers (MPCs) and used advanced genetic testing methods such as whole exome sequencing (WES) and chromosomal microarray analysis (CMA) to identify genetic variations associated with their conditions.
- The findings revealed that most genetic variants were of uncertain significance, indicating potential additive effects in cancer development, and emphasized the need for comprehensive assessments that go beyond just identifying one PV in patients with early-onset cancers and a family history of
Inborn errors of metabolism (IEM) represent a vast group of orphan genetic disorders associated with enzyme deficiencies, substrates accumulation and products depletion. For several decades, the cornerstone of life-saving therapies in IEM was based on extreme manipulations of the nutritional intakes. Such outstanding dietary engineering is still relevant today, but new therapeutic avenues have emerged last years, based on better pathophysiological understanding and technological advances.
View Article and Find Full Text PDFWhole genome sequencing (WGS) is a widely available, inexpensive means of providing a wealth of information about an organism's diversity and evolution. However, WGS for many pathogenic bacteria remain limited because they are difficult, slow and/or dangerous to culture. To avoid culturing, metagenomic sequencing can be performed directly on samples, but the sequencing effort required to characterize low frequency organisms can be expensive.
View Article and Find Full Text PDFNowadays, physiological amino acids profiling is based primarily on ion exchange chromatography (IEC) coupled to a post-column derivatization with ninhydrin and UV detection at two wavelengths. Unfortunately, this technique suffers various drawbacks such as long analysis time, high sample volume and specific costs related to the maintenance of a dedicated equipment. These reasons have led us to consider a technology switch to a mass spectrometry method.
View Article and Find Full Text PDFQuantification of hypoglycin A in serum using aTRAQ(®) assay.
J Chromatogr B Analyt Technol Biomed Life Sci
August 2015
Background: Hypoglycin A has been recently identified has the causal agent of atypical myopathy (AM) in horses. Its identification and quantification in equine's biological fluids is thus a major concern to confirm maple poisoning and to provide insight into the poorly understood mechanism of hypoglycin A intoxication.
Methods: Quantification of hypoglycin A has been achieved with the aTRAQ kit for amino acid analysis of physiological fluids (AB Sciex).