1,720,993 research outputs found
ESTIMATING THE BIOGEOGRAPHICAL ORIGIN OF THE UNIDENTIFIED BODIES OF THE SHIPWRECK OF APRIL 18TH, 2015 IN THE MEDITERRANEAN: COMPARISON OF GENETIC AND ANTHROPOLOGICAL ASSESSMENTS
Full text linkLa crisi migratoria ha recentemente posto l’attenzione sulla necessità di identificare le vittime dei naufragi del Mediterraneo. Il presente studio fa parte del progetto del LABANOF (Laboratorio di Antropologia e Odontologia), Dipartimento di Scienze Biomediche dell’Università degli Studi di Milano, che ha come finalità quella di identificare le vittime del naufragio del 18 aprile 2015. Oltre ad occuparsi di tale aspetto identificativo, il presente lavoro di Tesi ha avuto come obiettivo il confronto tra metodiche genetiche e antropologiche al fine della stima dell’origine biogeografica di tali individui. A tal fine, i resti di 150 vittime sono stati sottoposti ad indagine genetica presso il laboratorio di genetica forense dell’Università degli Studi di Pavia, Torino, Brescia and Eurofins Genoma, a scopo identificativo con la tipizzazione dei marcatori autosomici STR. Sui 49 campioni che hanno restituito una qualità analitica ottimale, sono poi state effettuate analisi mirate alla valutazione dell’origine biogeografica: in particolare, sui casi si è proceduto alla tipizzazione dei marcatori autosomici sul cromosoma Y, oltre a marcatori SNP sia autosomici sia sul cromosoma Y. Essendosi altresì rilevate differenze in termini di resa e recupero dell’informazione genetica tra i diversi individui, utile al confronto con i profili dei presunti parenti, si è inoltre indagata l’eventuale sussistenza di una correlazione fra la qualità del materiale genetico risultante dall’analisi dei marcatori autosomici e le condizioni tafonomiche dei resti cadaverici studiati. L’unica variabile che ha mostrato di variare in modo significativo (p-value <0.05) è stato l’intervallo di tempo intercorso fra il naufragio e il momento dell’espletamento delle procedure autoptiche, nel corso delle quali si è provveduto al prelievo dei campioni ossei: i campioni con risultato analitico ottimale sono stati prelevati nella quasi totalità dei casi più precocemente (<200 giorni). Parallelamente i 49 campioni sono stati analizzati dal punto di vista antropologico applicando metodi morfologici sviluppati su popolazioni sovrapponibili a quelle di provenienza delle vittime. Per quanto riguarda l’ancestralità geografica, le predizioni dei due metodi valutati sui caratteri morfometrici del cranio (OSSA e hfeneR) appaiono coincidere tra loro se si considera il gruppo con percentuali di probabilità correlate alla stima. Tuttavia, la bassa numerosità delle risultanze del sistema OSSA non consente ulteriori considerazioni. Per quanto concerne i caratteri non metrici valutati sui denti, le analisi sono state effettuate mediante software rASUDAS. Le stime risultanti hanno rivelato una scarsa concordanza con le predizioni morfologiche craniche, in particolare con quelle del software hefneR, che è più paragonabile del sistema OSSA. Il confronto con le predizioni di origine biogeografica mediante polimorfismi Y-STR ha evidenziato un certo pattern di concordanza solamente con le stime ottenute mediante il metodo hefneR. L’opportunità di confermare quanto osservato su un campione maggiore rappresenterebbe un ambizioso obiettivo per ricerche future. In conclusione, il presente lavoro ha permesso di identificare i metodi potenzialmente più idonei per lo studio del campione in analisi, aprendo nuove prospettive nel processo identificativo delle vittime del Mediterraneo. La possibilità di avere metodi antropologici e odontologici accurati permetterebbe di circoscrivere il confrona sospetti di identità provenienti da una specifica area geografica, oltre a focalizzare la ricerca dei parenti in alcuni paesi e a consentire la selezione di dati di riferimento idonei per il confronto genetico. In aggiunta, il riscontro di come la qualità dei profili genetici venga significativamente influenzata dal tempo di sommersione sottolinea l’importanza di procedure precoci di recupero e identificazione delle vittime.The migratory crisis has recently drawn attention to the need to identify the victims of shipwrecks in the Mediterranean Sea. This study is part of a larger project carried out by the Forensic Laboratory of Anthropology and Odontology (LABANOF – Laboratorio di Antropologia e Odontologia Forense) of the University of Milan aimed at identifying the victims of the shipwreck of April 18, 2015. The present research had the objective of exploring the current methods of geographic origin estimation in forensic genetics and anthropology and contributing to the search in the field of identification. To this end, the remains of 150 victims were subjected to genetic investigation at the forensic genetics laboratory of the University of Brescia, Turin, Pavia and of the Eurofins Genoma for identification purposes. Also, on 49 cases with good quality profiles biogeographical ancestry estimation was performed using different techniques, according to the protocols used in the different laboratories involved (Brescia and Turin). Furthermore, having detected differences in terms of recovery of genetic information useful for comparison with the profiles of alleged relatives, the possible correlation between the quality of the results in the analysis of autosomal markers and the taphonomic condition of the cadaveric remains was investigated. The only variable that showed significant variation (p-value <0.01) was the time interval between the shipwreck and the autopsy procedures, during which sampling was performed. Bone samples with optimal analytical results were taken earlier (<200 days) in almost all cases. This finding underlines the importance of early victim recovery and identification procedures. The genetic samples used for biogeographical estimate were also analyzed by applying morphological methods developed on populations allegedly comparable to those of the origin of the victims. The estimates were then compared with the genetic results obtained. With regard to geographical ancestry, the predictions of the OSSA method appear to coincide with the group with probability percentages related to the higher estimate resulting from the hefneR software. However, the low number of OSSA findings does not allow for any additional considerations to be made. As far as the non-metric dental characters are concerned, the results of the analysis with the rASUDAS software show little agreement with the cranial morphological predictions, referring in this sense only to the hefneR method: the OSSA score, in fact, contrary to the first two, does not consider the Asian population among the reference population and is therefore less expendable in terms of comparison. The comparison with the predictions of biogeographical origin using Y-STR polymorphisms showed a certain pattern of agreement only with the estimates obtained by the hefneR method. The opportunity to confirm what was observed on a larger sample and when the identification process is completed would be an ambitious goal for future research. In conclusion, the present research made it possible to identify the potentially most suitable methods for geographical origin estimation, opening new perspectives in the identification process of the unknown victims of the Mediterranean. The availability of accurate anthropological and odontological methods can complement genetic analysis investigations. In this sense, the comparison of suspicious identities can be restricted to individuals from a specific geographical area, just as the search for relatives can be directed to certain African countries and thus suitable reference data can be selected for genetic comparison. In addition, knowing any links between the state of preservation of the remains and the quality of the genetic material stored in it may allow the selection of the most suitable portion of bone and/or protocols for subsequent genetic investigations
Sirtuins, aging, and cardiovascular risks
Full text linkThe sirtuins comprise a highly conserved family proteins present in virtually all species from bacteria to mammals. Sirtuins are members of the highly conserved class III histone deacetylases, and seven sirtuin genes (sirtuins 1-7) have been identified and characterized in mammals. Sirtuin activity is linked to metabolic control, apoptosis, cell survival, development, inflammation, and healthy aging. In this review, we summarize and discuss the potential mutual relations between each sirtuin and cardiovascular health and the impact of sirtuins on oxidative stress and so age-related cardiovascular disorders, underlining the possibility that sirtuins will be novel targets to contrast cardiovascular risks induced by aging
Plastic bag suffocation and codeine overdose: An unusual case of complex suicide and review of the literature
No full text: The term "planned complex suicide" refers to cases where two or more suicide methods are applied simultaneously. Plastic bag suffocation is a suicidal method commonly combined with self-poisoning by inhalation of volatile compounds or pharmacological substances at poisoning dosage. A 67-year-old woman was found dead on the couch. The head was wrapped in a plastic bag knotted at the front of the neck. No signs of struggle were present on the scene. In the fireplace, there were two blisters of acetaminophen/codeine phosphate tablets. Postmortem examination showed congestion of the face and the neck and pulmonary edema with patchy emphysema. There was no evidence of physical duress. Toxic levels of codeine were detected in the blood. The death was related to a complex suicide involving codeine overdose and asphyxia by plastic bag suffocation. The hypoxic/cardioinhibitory effects of plastic bag suffocation combined to codeine-induced deep reduction of respiratory rate, making the suicide hypothesis the more likely scenario. In order to assess what elements contribute to postmortem diagnosis in complex suicides with plastic bag suffocation, a review of the forensic literature published between 2002 and 2022 was performed. This article emphasizes the complexity of diagnosing deaths involving plastic bag suffocation in suicides, particularly when combined with other methods like inert gas inhalation or drug intake. It underscores the importance of comprehensive toxicological analyses, careful scene examination, and histological studies, not forgetting a thorough comparative analysis of the existing literature, to accurately determine the cause and manner of death in such cases
Critical Role of NFκB in the Pathogenesis of Non-alcoholic Fatty Liver Disease: A Widespread Key Regulator
No full textNon-alcoholic fatty liver disease is a chronic metabolic disorder representing the most common cause of chronic liver disease in western civilization and one of the main causes of cirrhosis with a significant impact on all-cause mortality in the most advanced phases. It is characterized by hepatic fat accumulation in the absence of significant ethanol consumption, virus infection or other specific causes of liver disease. Accumulation of fat in liver tissue occurs as a consequence of the imbalance between overconsumption of high-fat diet and increased de novo lipogenesis and decreased lipid disposal. Novel dietary and pharmacological therapies for the prevention of fatty liver disease and the progression to cirrhosis are an actual field of study but still poorly understood. In this perspective, the current review aims to summarise and clarify the transcription factor NFκB effects, which may exert among non-alcoholic fatty liver diseases and their progression. Through extensive previous research, it has become clear that several signaling pathways are involved: metabolic dysregulation (such as free fatty acids increase, adipokine alteration, insulin resistance), oxidative stress and inflammation contribute together in a "vicious circle" to the pathogenesis of non-alcoholic fatty liver diseases. Within this, NFκB signaling is a primary factor in inflammatory reactions and diseases, with important molecular connections between metabolic, oxidative, immune and inflammation systems
A Focus on Enterochromaffin Cells among the Enteroendocrine Cells: Localization, Morphology, and Role
Full text linkThe intestinal epithelium plays a key role in managing the relationship with the environment, the internal and external inputs, and their changes. One percent of the gut epithelium is represented by the enteroendocrine cells. Among the enteroendocrine cells, a group of specific cells characterized by the presence of yellow granules, the enterochromaffin cells, has been identified. These granules contain many secretion products. Studies showed that these cells are involved in gastrointestinal inflammatory conditions and hyperalgesia; their number increases in these conditions both in affected and not-affected zones of the gut. Moreover, they are involved in the preservation and modulation of the intestinal function and motility, and they sense metabolic-nutritional alterations. Sometimes, they are confused or mixed with other enteroendocrine cells, and it is difficult to define their activity. However, it is known that they change their functions during diseases; they increased in number, but their involvement is related mainly to some secretion products (serotonin, melatonin, substance P). The mechanisms linked to these alterations are not well investigated. Herein, we provide an up-to-date highlight of the main findings about these cells, from their discovery to today. We emphasized their origin, morphology, and their link with diet to better evaluate their role for preventing or treating metabolic disorders considering that these diseases are currently a public health burden
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Forensic DNA Typing From Femurs and Bones of the Foot
No full textEvidence has been accumulating in the sense that femur may not always be the best option for DNA typing of skeletal remains. Recent studies have shown that bones of the hands and feet appear to be a superior source of preserved DNA. The current study reanalyzed DNA quantitation, degradation, and short tandem repeat typing in femurs, lateral cuneiforms, and distal foot phalanges. Data from 3 human identification cases involving corpses in an advanced decomposition state were collected. We found that in the studied cases, the femur provided equal or inferior results, recovering 84.9% of true alleles. Lateral cuneiforms (99.2%) and distal foot phalanges (96.8%) yielded higher percentages. In addition, more drop-ins and drop-outs were detected in femurs than cuneiforms and phalanges. This study adds to current findings that advocate for further investigation into bone selection for use in forensic practice. The impacts of our findings are limited by the small number of individuals studied and may not apply to old and degraded bones
Forensic issues in autoerotic deaths: A 44-year systematic review and a case series from the legal medicine institutes of Bologna and Milan, Italy
No full textAutoerotic deaths, defined as accidental fatalities occurring during solitary sexual activities, show complex forensic challenges due to their different mechanisms and variable death scene presentations. This study combines a systematic review of global literature spanning 44 years (from 1980 to 2024) with a detailed case series analysis from the Legal Medicine Institutes of Bologna and Milan, Italy, to provide comprehensive insights into this phenomenon. The systematic review identified 67 relevant reports from databases namely Scopus, Web of Science, and PubMed. In parallel, a case series of 7 autoerotic fatalities was analyzed, highlighting victims’ demographics, causes of death, and associated factors. Findings from 101 cases of autoerotic deaths included in the systematic review indicate a predominant prevalence of asphyxial deaths, with hanging being the most common method, followed by intoxication. The study underscores significant gender disparities, with men comprising most cases (n = 91), spanning a broader age range (12–87 y.o.) compared to women (17–48 y.o.). The findings are fully consistent with the Italian case series presented here, in which all the subjects were men aged 18 to 72 years, and the cause of death was asphyxia in 6 cases. Toxicological analyses played a crucial role in elucidating the cause and manner of death in most cases, yet their utilization varies widely, impacting data reliability and evaluation of the cause of death. Notably, the evidence of volatile substances, especially inhalants, creates an emerging area of interest with potential epidemiological and preventive implications. The systematic analysis revealed substantial variability in death scene characteristics and forensic procedures, emphasizing the need for standardized investigative protocols. This study highlights the multifaceted nature of autoerotic deaths and the importance of a holistic forensic approach encompassing death scene investigation, autopsy, and toxicological analysis. By enhancing the understanding and awareness about this phenomenon, this research aims to inform evidence-based practices in forensics, mitigate diagnostic uncertainties, and facilitate preventive interventions
Multiple anatomical variations of the renal vessels associated with malrotated and unrotated kidneys: a case report
No full textVariations in the number of renal vessels represent the most common anatomical variations in renal vasculature. Here, a rare case of multiple anatomical variations of renal vessels was found in a 70-year-old female cadaveric dissection. Three renal arteries and two renal veins were observed to supply the right kidney, which was malrotated and ectopic; on the left side, the kidney was unrotated and presented two renal arteries and normal renal vein. In particular, we paid attention to the pattern of the three renal arteries that originated from the lateral side of the aorta and passed anteriorly to the inferior vena cava. A rare case of ovarian vein that drained into the right renal vein was also reported. The descriptions of these multiple anatomical variations should be considered by clinicians for performing correct surgical and radiological procedures
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