Bicuspid aortic valve (BAV) is the most common congenital heart defect responsible for valvular and aortic complications in affected patients. Causes and mechanisms of this pathology are still elusive and thus the lack of early detection biomarkers leads to challenges in its diagnosis and prevention of associated cardiovascular anomalies. The aim of this study was to explore the potential use of urine Nuclear Magnetic Resonance (NMR) metabolomics to evaluate a molecular fingerprint of BAV.
View Article and Find Full Text PDFDespite the advancements in medical knowledge and technology, the etiopathogenesis of bronchopulmonary dysplasia (BPD) is not yet fully understood although oxidative stress seems to play a role, leading to a very demanding management of these patients by the neonatologist. In this context, metabolomics can be useful in understanding, diagnosing, and treating this illness since it is one of the newest omics science that analyzes the metabolome of an individual through the investigation of biological fluids such as urine and blood. In this study, 18 patients admitted to the Neonatal Intensive Care Unit of the Cagliari University Hospital were enrolled.
View Article and Find Full Text PDFSystemic sclerosis (SSc) is an autoimmune disease of unknown aetiology characterized by vascular lesions, immunological alterations and diffuse fibrosis of the skin and internal organs. Since recent evidence suggests that there is a link between metabolomics and immune mediated disease, serum metabolic profile of SSc patients and healthy controls was investigated by H-NMR and GC-MS techniques. The results indicated a lower level of aspartate, alanine, choline, glutamate, and glutarate in SSc patients compared with healthy controls.
View Article and Find Full Text PDFObjective: Preterm infants' body composition at term-corrected age differs from that of term infants but appears to be similar at the age of 3 months. The aim of this study was to compare the metabolomic pattern of preterm infants at term and at 3 months with that of term infants and to determine its association with body composition development.
Method: We designed a pilot study.
Background: Urinary tract infection (UTI) is one of the most common diagnoses in girls and women, and to a lesser extent in boys and men younger than 50 years. Escherichia coli, followed by Klebsiella spp. and Proteus spp.
View Article and Find Full Text PDFAutism spectrum disorders (ASD) make a dishomogeneous group of psychiatric diseases having either genetic and environmental components, including changes of the microbiota. The rate of diagnosis, based on a series of psychological tests and observed behavior, dramatically increased in the past few decades. Currently, no biological markers are available and the pathogenesis is not defined.
View Article and Find Full Text PDFObjective: Idiopathic sudden sensorineural hearing loss is a frequent emergency, with unknown aetiology and usually treated with empiric therapy. Steroids represent the only validated treatment but prognosis is unpredictable and the possibility to select the patients who will not respond to steroids could avoid unnecessary treatments. Metabolomic profiling of the biofluids target the analysis of the final product of genic expression and enzymatic activity, defining the biochemical phenotype of a whole biologic system.
View Article and Find Full Text PDFNMR-based metabolomics was used to compare the metabolic urinary profiles of exclusively breast-fed term infants (n = 11) with those of a double-blinded controlled trial with 49 formula-fed term newborns randomized to receive either an infant formula enriched by functional ingredients (n = 24) or a standard formula (n = 25). Anthropometric measurements and urine samples were taken at enrollment (within the first month of life), at around 60 days of life, and at the end of study period (average age of 130 days). The metabolic profiles were examined in relation to time and diet strategy.
View Article and Find Full Text PDFAm J Med Genet B Neuropsychiatr Genet
July 2016
Human aggression encompasses a wide range of behaviors and is related to many psychiatric disorders. We introduce the different classification systems of aggression and related disorders as a basis for discussing biochemical biomarkers and then present an overview of studies in humans (published between 1990 and 2015) that reported statistically significant associations of biochemical biomarkers with aggression, DSM-IV disorders involving aggression, and their subtypes. The markers are of different types, including inflammation markers, neurotransmitters, lipoproteins, and hormones from various classes.
View Article and Find Full Text PDFObjective: Bronchopulmonary dysplasia (BPD) or chronic lung disease is one of the principal causes of mortality and morbidity in preterm infants. Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications. The trigger cause of the disease comprehends the impairment of the alveolar development and the increased angiogenesis.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
October 2014
Background: Physiological changes leading to parturition are not completely understood while clinical diagnosis of labour is still retrospective. Gas chromatography mass spectrometry (GC/MS) and nuclear magnetic resonance spectroscopy (NMR) represent two of the main analytical platforms used in clinical metabolomics. Metabolomics might help us to improve our knowledge about the biochemical mechanisms underlying labour.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
October 2013
Oncology is a branch of medicine in rapid evolution in the attempt to find innovative methods for early diagnosis and a better understanding of tumoral processes leading to the development of new therapies. Metabolomics is the emerging discipline among the "omics" sciences which makes it possible to further expand our knowledge concerning cancer biology. Different studies have revealed the potential role of metabolomics in gaining an understanding of pathophysiological processes in cancer, improving tumor staging, characterizing tumors and searching for biomarkers predictive of therapeutic responses.
View Article and Find Full Text PDFIn this feasibility study, we propose, for the first time, (1)H NMR spectroscopy coupled with mathematical strategies as a valid tool for body fluid (BF) trace identification in forensic science. In order to assess the ability of this approach to identify traces composed either by a single or by two different BFs, samples of blood, urine, saliva, and semen were collected from different donors, and binary mixtures were prepared. (1)H NMR analyses were carried out for all samples.
View Article and Find Full Text PDFObjective: The aim of the present study was to investigate the metabolic profile of preterm human breast milk (HBM) by using a metabolomic approach.
Methods: NMR spectroscopy and GC/MS were used to analyze the water-soluble and lipid fractions extracted from milk samples obtained from mothers giving birth at 26-36 weeks of gestation. For the sake of comparison, preterm formula milk was also studied.
Background: Clinical metabolomics is a recent "omic" technology which is defined as a global holistic overview of the personal metabolic status (fingerprinting). This technique allows to prove metabolic differences in different groups of people with the opportunity to explore interactions such as genotype-phenotype and genotype-environment type, whether normal or pathological.
Aim: To study chronic kidney injury 1) using urine metabolomic profiles of young adults born extremely low-birth weight (ELBW) and 2) correlating a biomarker of kidney injury, urinary neutrophil gelatinase-associated lipocalin (NGAL), in order to confirm the metabolomic injury profile.
To date, we have little knowledge on the overall metabolic status of neonates with intrauterine growth retardation (IUGR). In the last few years, the analysis of metabolomics has assumed an important clinical role in identifying "disorders" in the metabolic profile of patients. The aim of this work has been to analyze the urine metabolic profiles of neonates with IUGR and compare them with controls to define the metabolic patterns associated with this pathology.
View Article and Find Full Text PDFPerinatal asphyxia is one of the leading causes of morbidity and mortality in the neonatal period. Response to oxygen treatment is unpredictable and the optimum concentration of oxygen in neonatal resuscitation is still a matter of debate among neonatologists. A metabolomic approach was used to characterize the metabolic profiles of newborn hypoxic-reoxygenated piglets.
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