1,721,138 research outputs found
Neonatal nephrology and laboratory medicine: An effective interdisciplinary model to improve the outcome in neonatal intensive care unit
No full textReducing neonatal mortality and expenditure in the era of health care crisis: is it possible?
No full textCould metabolomics drive the fate of COVID-19 pandemic? A narrative review on lights and shadows
Full text linkHuman Severe Acute Respiratory Syndrome CoronaVirus 2 (SARS-CoV-2) infection activates a complex interaction host/virus, leading to the reprogramming of the host metabolism aimed at the energy supply for viral replication. Alterations of the host metabolic homeostasis strongly influence the immune response to SARS-CoV-2, forming the basis of a wide range of outcomes, from the asymptomatic infection to the onset of COVID-19 and up to life-threatening acute respiratory distress syndrome, vascular dysfunction, multiple organ failure, and death. Deciphering the molecular mechanisms associated with the individual susceptibility to SARS-CoV-2 infection calls for a system biology approach; this strategy can address multiple goals, including which patients will respond effectively to the therapeutic treatment. The power of metabolomics lies in the ability to recognize endogenous and exogenous metabolites within a biological sample, measuring their concentration, and identifying perturbations of biochemical pathways associated with qualitative and quantitative metabolic changes. Over the last year, a limited number of metabolomics- and lipidomics-based clinical studies in COVID-19 patients have been published and are discussed in this review. Remarkable alterations in the lipid and amino acid metabolism depict the molecular phenotype of subjects infected by SARS-CoV-2; notably, structural and functional data on the lipids-virus interaction may open new perspectives on targeted therapeutic interventions. Several limitations affect most metabolomics-based studies, slowing the routine application of metabolomics. However, moving metabolomics from bench to bedside cannot imply the mere determination of a given metabolite panel; rather, slotting metabolomics into clinical practice requires the conversion of metabolic patient-specific data into actionable clinical applications
Metabolomics: A challenge for detecting and monitoring inborn errors of metabolism.,Il ruolo della metabolomica nella diagnosi e nel monitoraggio delle malattie metaboliche ereditarie
No full textTimely newborn screening and genetic profile are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in the clinical biochemistry and laboratory medicine communities, several research groups have focused their interest the analysis of metabolites and their interconnections in IEMs. Metabolomics has the property to extend metabolic information leading to achieve an accurate diagnosis for an individual patient and to discover novel IEMs. Structural and functional information on 247 metabolites associated with 147 IEMs and 202 metabolic pathways involved in various IEMs have been reported in the human metabolome data base (HMDB). For each metabolic gene, a new computational approach can be developed for predicting a set of metabolites that are expected to change their concentration in urine, blood and other biological fluids after gene knockout. Both the targeted and the untargeted mass spectrometry (MS)-based metabolomic approaches have been used to expand the range of disease-associate metabolites. The quantitative targeted approach, in conjunction with chemometrics, can be considered a basic tool for validating known diagnostic biomarkers in various metabolic disorders. The untargeted approach increases the identification of new biomarkers in known IEMs and allows pathways analysis. Urine is an ideal biological fluid for metabolomics in neonatology; however, the lack of standardization of the preanalytical phase may originate potential interferences in metabolomic studies. Integrating genomic with metabolomic data represents the current challenge for improving diagnosis and prognosis of IEMs. The goals consist of the identification of both metabolically active loci and genes relevant to a disease phenotype, that means deriving disease-specific biological insights
Biochemistry and clinical role of human cystatin C.
No full textLow molecular-mass plasma proteins play a key role in health and disease. Cystatin C is an endogenous cysteine proteinase inhibitor belonging to the type 2 cystatin superfamily. The mature, active form of human cystatin C is a single non-glycosylated polypeptide chain consisting of 120 amino acid residues, with a molecular mass of 13,343-13,359 Da, and containing four characteristic disulfide-paired cysteine residues. Human cystatin C is encoded by the CST3 gene, ubiquitously expressed at moderate levels. Cystatin C monomer is present in all human body fluids; it is preferentially abundant in cerebrospinal fluid, seminal plasma, and milk. Cystatin C L68Q variant is an amyloid fibril-forming protein with a high tendency to dimerize. It forms self-aggregates with massive amyloid deposits in the brain arteries of young adults, leading to lethal cerebral hemorrhage. The main catabolic site of cystatin C is the kidney: more than 99% of the protein is cleared from the circulation by glomerular ultrafiltration and tubular reabsorption. The diagnostic value of cystatin C as a marker of kidney dysfunction has been extensively investigated in multiple clinical studies on adults, children, and in the elderly. In almost all the clinical studies, cystatin C demonstrated a better diagnostic accuracy than serum creatinine in discriminating normal from impaired kidney function, but controversial results have been obtained by comparing this protein with other indices of kidney disease, especially serum creatinine-based equations. In this review, we present and discuss most of the available data from the literature, critically reviewing conclusions and suggestions for the use of cystatin C in clinical practice. Despite the multitude of clinical data in the literature, cystatin C has not been widely used, perhaps because of a combination of factors, such as a general diffidence among clinicians, the absence of definitive cut-off values, conflicting results in clinical studies, no clear evidence on when and how to request the test, the poor commutability of results, and no accurate examination of costs and of its routine use in a stat laboratory
Laboratory medicine meets precision medicine: The paradigm of metabolomics in perinatology: Proposals from the 4th International Conference on Neonatal and Pediatric Laboratory Medicine.
No full textRedefinition of a test panel in a stat laboratory: analysis of changes in strategy, costs, efficiency and evaluation of clinical audit
No full textLaboratory medicine meets precision medicine: The paradigm of metabolomics in perinatology: Proposals from the 4th International Conference on Neonatal and Pediatric Laboratory Medicine
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