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Biochemical Markers in Ophthalmology
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Abdus Samad Ansari, Pirro G. Hysi
Metabolites are small molecules or compounds that are either the end or by-product of biochemical reactions in the living cell. Metabolomics is a newly emerging field that extensively analyzes the presence of metabolites in a biological specimen. Although originally metabolites were used to diagnose complex metabolic disease and monogenic disorders such as inborn errors of metabolism [114], it has evolved well beyond the scope of basic clinical chemistry techniques, to include the parallel “quantitative measurement of the dynamic multiparametric metabolic response of living systems to pathophysiological stimuli or genetic modifications” [115]. Metabolomics allows for the accurate analysis of hundreds of metabolites, permitting the characterization of metabolic phenotypes, metabolic derangements that inspire disease, the identification of innovative therapeutic targets, and the detection of biomarkers that may guide treatment and monitor disease progression [116].
Clinical Clues, Biochemical Indices, and Biomarkers
Published in David J. Hackam, Necrotizing Enterocolitis, 2021
Karl G. Sylvester, Enrico Danzer
Metabolomics is the study of the metabolites or small-molecule mediators used to describe cellular and systemic metabolic function. There has been recent recognition that preterm newborns are metabolically distinct from term newborns. The distinct metabolic capacity of the premature newborn has arisen from observation examining the variability of analytes upon newborn screen (NBS) between term and preterm newborns (64, 65). Several authors have also demonstrated the impact of postnatal nutrition on the distinct patterns in premature newborns distinct from term newborns. Building on these concepts and using the newborn screen, Sylvester et al. further demonstrated that the NBS could be used to stratify VLBW newborns at risk of acquiring NEC (66). Several authors have further shown that the newborn screen can be used to gestationally date a newborn and their associated risk of 7-day mortality (67–69). Since serum metabolic panels reflect systemic metabolism, changes in the metabolic phenotype preceding NEC may provide valuable insights to the intersection of prematurity-associated changes relative to route of feeding and NEC onset.
Neurodevelopment and placental omics
Published in Moshe Hod, Vincenzo Berghella, Mary E. D'Alton, Gian Carlo Di Renzo, Eduard Gratacós, Vassilios Fanos, New Technologies and Perinatal Medicine, 2019
Despina D. Briana, Ariadne Malamitsi-Puchner
The metabolome is a set of metabolites found in a biological system, and metabolomics is the study of the products of metabolic processes (21). The recent development of imaging mass spectrometry (IMS) has created a new generation of mass spectrometers suitable for the direct analysis of metabolites in tissues. Traditional matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) uses a liquid substrate (27).
Innovations and revolutions in reducing retinal ganglion cell loss in glaucoma
Published in Expert Review of Ophthalmology, 2021
Mary Kelada, Daniel Hill, Timothy E. Yap, Haider Manzar, M. Francesca Cordeiro
In order to target individuals with the aforementioned treatments to deliver personalized glaucoma therapy, we need to apply what is known about the pathophysiology of glaucoma to patients in clinical practice. Metabolomics is the scientific study of chemical processes involving metabolites. Nuclear magnetic resonance (NMR) and mass spectroscopy can be used to analyze in vivo and in vitro models and map out a ‘metabolic phenotype.’ It has been tested in both animal and human glaucoma models. This gives insight into all the biochemical processes occurring in a sample at any time, including the level of biofluids and tissues [141]. Metabolomics has previously identified altered lipid metabolism in POAG patients and been used to analyze changes in metabolites in the aqueous humor of rat models of chronic glaucoma [142,143]. In humans, the majority of data are cross-sectional, comparing patients with different disease status. These comparisons have identified alterations in vitamin D-related metabolites, palmitoylcarnitine, hydroxyergocalciferol, terpenes, and sphingolipids in glaucoma patients [142]. Through the study of metabolomics, we hope to gain a better understanding of the etiopathology of glaucoma, in particular the role of apoptosis and systemic influences in disease progression [144].
Salivary metabolomics for cancer detection
Published in Expert Review of Proteomics, 2020
Metabolomics data analysis has several limitations. For large-scale analyses, quality control to eliminate unexpected bias is necessary. Multivariable analyses such as PLS-DA should be carefully validated to avoid overfitting and to accurately estimate generalization ability. Simple cross-validation is insufficient to assess this problem in most cases. An independent validation test with large-cohort data is necessary for a more rigorous validation of generalization ability. Considering clinical use, biomarker quantification using various platforms is preferable to generalize salivary tests. Discrimination criteria using PLS-DA with hundreds of metabolites limits the simplification of biomarker quantification. If classification criteria are established successfully with only a few biomarkers, development of antibody and enzyme-linked immunosorbent assays can help realize low-cost and high-throughput biomarker quantification. Even with MS, a lower number of focused metabolites is preferable to eliminate the risk of skewed quantification levels such as ion suppression.
The potential for metabolomics in the study and treatment of major depressive disorder and related conditions
Published in Expert Review of Proteomics, 2020
Given the dynamic range in the abundance and diversity of metabolites, high-throughput and high-resolution characteristics are essential for metabolomics technologies. The emergence of metabolomics was promoted by major technological advances, especially the sensitivity and mass range of mass spectrometers and the development of liquid chromatography (LC) and gas chromatography (GC). The commonly used analytical techniques applied to metabolomics primarily include nuclear magnetic resonance (NMR), CG-mass spectrometry (GC-MS), LC-MS, and capillary electrophoresis–MS (CE-MS). Two primary analytical platforms are used in metabolomics, which including targeted and non-targeted approaches. Non-targeted metabolomics represent the classical and widely applied strategy, in which samples are detected in an unbiased and comprehensive manner to compare metabolic characteristics between different biological conditions. Targeted metabolomics represents a quantitative tool for monitoring known molecules related to specific metabolic pathways [18,19]. The analysis of data that originate from metabolomics assays involves several steps, including data collection, raw data preprocessing, statistical analysis, metabolite annotation, and related metabolic pathways analysis [20]. The most commonly used platforms in depression research are GC-MS and LC-MS (Figure 1(a)).