21 research outputs found
Letter by d'Aloja et al regarding article, "Competitive sport participation among athletes with heart disease: a call for a paradigm shift in decision making"
No full textAspetti medico-legali dell'infezione da SARS-CoV-2 (COVID-19) in ambito pediatrico: il mondo giuridico e la pandemia
No full textA Conundrum Waiting for Clinical, Technical, and Medico-Legal Solutions: Looking for the “Perfect Biomarker” of Perinatal Asphyxia
No full textThis chapter addresses the more recent discovery of “-omic” putative biomarkers of perinatal asphyxia. The urgent need for more tools to intercept as early as possible the onset of hypoxic and/or ischemic signs of brain damage in a fetus or in a newborn is paramount due to the available treatment by therapeutic hypothermia. The precocious identification of neonates who will benefit from this treatment may help physicians to reduce, if not eliminate, the burden of the disability these human beings will carry on for all their lives. Genomics, proteomics, transcriptomics, and metabolomics promise to be able to unravel the complex network of physiological and pathological alteration caused by the primary hypoxic insult. A more in-depth understanding of these mechanisms will guarantee the identification, validation, and implementation of new diagnostic tests able to obtain an early diagnosis (biomarker of damage) and a more accurate prognosis (biomarker of outcome). This comprehension may also pave the way to new neuroprotective drugs and/or treatment, targeted to inhibit or limit primary and secondary damages activated by the abrupt shortening of available oxygen. Although promising, all the so far published “putative” biomarkers failed in the routine application in the neonatal field mainly due to the temporal gap existing between the onset of hypoxia–ischemia and the first diagnosis, which requests an in-depth clinical evaluation and further instrumental analysis
Looking for Post-Mortem Metabolomic Standardization: Waiting for Godot—The Importance of Post-Mortem Interval in Forensic Metabolomics
No full textA growing body of evidence suggests that the post-mortem interval exerts a strong effect on the metabolome, independently of the biological matrix or the cause of death. A sound and shared approach in standardization is mandatory
Creation of an Experimental Animal Model for the Study of Postmortem Dark Scleral Spots
No full textPostmortem dark scleral spots, first described by Sommer in 1833, are well-known in forensic pathology. Background/Objectives: Despite this, their presence is currently considered a nonspecific sign, and their pathogenesis has received little attention in forensic literature. In recent years, however, preliminary studies have suggested new mechanisms in their pathogenesis and links to specific types of death. This study aims to create an experimental model for studying scleral spots. Methods: Twenty sheep, already slaughtered for food, were used. After decapitation, the heads were transported to a room with known temperature and humidity. The right eye underwent eyelid excision, while the left eye’s eyelids were sutured. Continuous observation for approximately 24 h was conducted, with brief interruptions to observe the closed eyes. Results: Dark scleral spots appeared in all open eyes (20/20) after an average of 240.96 ± 58.36 min. The spots did not appear in any of the closed eyes. Conclusions: Experimental data indicate that despite the different location compared to human cadavers, this model serves as an excellent experimental framework for studying postmortem scleral spots
Infant urinary metabolomic profile in a fatal acute methadone intoxication
No full textA case report suspicious for a Sudden Infant Death Syndrome is here described. Pathological findings were consistent with an acute respiratory failure while toxicological analysis revealed an elevated blood methadone concentration. Death was then ascribed to an acute methadone intoxication. In addition to the routinary approach, the urinary sample collected at autopsy was investigated with a H-1 NMR metabolomic approach and the identified metabolomic profile was challenged with the urinary metabolomic profiles previously obtained from 10 newborns who experienced perinatal asphyxia and 16 healthy control newborns. Intriguingly, the urinary profile of the methadone intoxicated infant was very similar to those belonging to the perinatal asphyxia newborns, especially to those belonging to the newborns characterised by the worst outcome. The results offer several hints on a shared metabolic derangement between different mechanisms of asphyxia/hypoxia. To the best of the authors' knowledge, this is the first report of the use of a metabolomic approach in a pathological case, in which metabolomics offers useful additional information regarding the mechanism and the cause of death
Forensic NMR metabolomics: one more arrow in the quiver
No full textIntroduction: NMR metabolomics is increasingly used in forensics, due to the possibility of investigating both endogenous metabolic profiles and exogenous molecules that may help to describe metabolic patterns and their modifications associated to specific conditions of forensic interest. Objectives: The aim of this work was to review the recent literature and depict the information provided by NMR metabolomics. Attention has been devoted to the identification of peculiar metabolic signatures and specific ante-mortem and post-mortem profiles or biomarkers related to different conditions of forensic concern, such as the identification of biological traces, the estimation of the time since death, and the exposure to drugs of abuse. Results and Conclusion: The results of the described studies highlight how forensics can benefit from NMR metabolomics by gaining additional information that may help to shed light in several forensic issues that still deserve to be further elucidated
Exploring Perinatal Asphyxia by Metabolomics
No full textBrain damage related to perinatal asphyxia is the second cause of neuro-disability worldwide. Its incidence was estimated in 2010 as 8.5 cases per 1000 live births worldwide, with no further recent improvement even in more industrialized countries. If so, hypoxic-ischemic encephalopathy is still an issue of global health concern. It is thought that a consistent number of cases may be avoided, and its sequelae may be preventable by a prompt and efficient physical and therapeutic treatment. The lack of early, reliable, and specific biomarkers has up to now hampered a more effective use of hypothermia, which represents the only validated therapy for this condition. The urge to unravel the biological modifications underlying perinatal asphyxia and hypoxic-ischemic encephalopathy needs new diagnostic and therapeutic tools. Metabolomics for its own features is a powerful approach that may help for the identification of specific metabolic profiles related to the pathological mechanism and foreseeable outcome. The metabolomic profiles of animal and human infants exposed to perinatal asphyxia or developing hypoxic-ischemic encephalopathy have so far been investigated by means of 1H nuclear magnetic resonance spectroscopy and mass spectrometry coupled with gas or liquid chromatography, leading to the identification of promising metabolomic signatures. In this work, an extensive review of the relevant literature was performed
Nails as optimal source of DNA for molecular identification of 5 decomposed bodies recovered from seawater: from Y-ancestry to personal identification
No full textMolecular identification of extremely compromised human remains in forensic field is usually performed from DNA typing of bones, which are a difficult sample to work with. Moreover, autosomal STR profiles do not always result in the identification of the donor due to lack of comparisons or non-hit throughout database searching. An attempt to overcome these issues is represented by fingernails as an alternative DNA source and Y-STRs typing to infer both geographical and familial ancestry of the unknown donor. In this study, we analyzed both 24 autosomal and 27 Y-chromosome STRs from unidentified human remains (UHRs) of five males recovered from the water near the southwestern coast of Sardinia by the Italian Harbor Master's Office. Nail clippings provided an optimal source of autologous DNA for molecular identification in a very short time, producing complete autosomal and Y-STR profiles even under conditions of high body degradation. Unfortunately, no match neither compatibility occurred using autosomal STRs (aSTRs), initially. Upon analyzing the Y-haplotypes, we found out they had already been observed in northern Africa, providing us important investigative leads. This prompted the International Criminal Police Organization (INTERPOL) to provide us with references of alleged relatives that were then confirmed to be related. The use of fingernails represents an excellent DNA source especially for genetic identification of decomposed bodies recovered in seawater environment. Notably, DNA extracted from nails gave high-quality Y-STR haplotypes by which predicting paternal ancestry of the unidentified donors may result fundamental in the forensic investigative context
