The Role of Metabolomics in Neonatal and Pediatric Laboratory Medicine.

Laboratory Medicine Service, IRCCS AOU San Martino-IST, University-Hospital, National Institute for Cancer Research, Genova, Italy.
Clinica chimica acta; international journal of clinical chemistry (Impact Factor: 2.82). 09/2013; 426. DOI: 10.1016/j.cca.2013.08.020
Source: PubMed


Metabolomics consists of the quantitative analysis of a large number of low molecular mass metabolites involving substrates or products in metabolic pathways existing in all living systems. The analysis of the metabolic profile detectable in an human biological fluid allows to instantly identify changes in the composition of endogenous and exogenous metabolites caused by the interaction between specific physiopathological states, gene expression, and enviroment. In pediatrics and neonatology, metabolomics offers new encouraging perspectives for the improvement of critically ill patients outcome, for the early recognition of metabolic profiles associated with the development of diseases in the adult life, and for delivery of individualized medicine. In this view, nutrimetabolomics, based on the recognition of specific cluster of metabolites associated with nutrition and pharmacometabolomics, based on the capacity to personalize drug therapy by analyzing metabolic modifications due to therapeutic treatment may open new frontiers in the prevention and in the treatment of pediatric and neonatal diseases. This review summarize the most relevant results published in the literature on the application of metabolomics in pediatric and neonatal clinical settings. However, there is the urgent need to standardize physiological and preanalytical variables, analytical methods, data processing, and result presentation, before to establish the definitive clinical value of results.

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Available from: Michele Mussap, Feb 07, 2014
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    • "The analysis of the metabolic profile observable in a body fluid allows the immediate identification of changes in the composition of endogenous and exogenous metabolites that may be correlated with specific pathophysiological states, gene expression and interaction with the environment [7]. To date, very few publications have dealt with metabolomics and sepsis in adults and children [8] and none in neonates. In our work we performed a metabolomic analysis to assess variations of metabolites preceding the onset of early and late sepsis in neonates for the purpose of identifying a metabolic state leading to the onset of infection. "
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    ABSTRACT: The purpose of this article is to study one of the most significant causes of neonatal morbidity and mortality: neonatal sepsis. This pathology is due to a bacterial or fungal infection acquired during the perinatal period. Neonatal sepsis has been categorized into two groups: early onset if it occurs within 3-6 days and late onset after 4-7 days. Due to the not-specific clinical signs, along with the inaccuracy of available biomarkers, the diagnosis is still a major challenge. In this regard, the use of a combined approach based on both nuclear magnetic resonance ((1)H-NMR) and gas-chromatography-mass spectrometry (GC-MS) techniques, coupled with a multivariate statistical analysis, may help to uncover features of the disease that are still hidden. The objective of our study was to evaluate the capability of the metabolomics approach to identify a potential metabolic profile related to the neonatal septic condition. The study population included 25 neonates (15 males and 10 females): 9 (6 males and 3 females) patients had a diagnosis of sepsis and 16 were healthy controls (9 males and 7 females). This study showed a unique metabolic profile of the patients affected by sepsis compared to non-affected ones with a statistically significant difference between the two groups (p = 0.05).
    Early human development 03/2014; 90 Suppl 1:S78-83. DOI:10.1016/S0378-3782(14)70024-6 · 1.79 Impact Factor
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    ABSTRACT: Metabolomics is a new “omics” approach concerning the high-throughput identification, quantification and characterization of endogenous and exogenous metabolites. This new technique is gaining consideration upon medical practice improving the single metabolite analysis as well as measuring the response to treatment in intensive care units. However, despite great efforts, very little research has new biomarkers or specific metabolic profiles, which characterize disorders such as asphyxia and sepsis. Here, we point out some of the recent works published in literature regarding the management of these conditions having high mortality and morbidity rates. The purpose of this review is also to highlight the ability of metabolomics to find early biomarkers for these conditions as well as to predict the development of side\effects due to the therapy. The goal is to demonstrate that the metabolomics technique can be considered a viable option for the study of these conditions, which may help to develop a better care in intensive departments.
    Journal of Anesthesia & Clinical Research 01/2014; · 1.40 Impact Factor
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