GENis is an open source multi-tier information system developed to run a forensic DNA database at local, regional and national levels.11Fundación Sadosky holds all rights over GENis software and ...authorizes the publication of this article. It was conceived as a highly customizable system, enforcing several security policies including: data encryption, double factor identification, structure of user’s roles and permissions, system-wide secure log auditing, non-repudiation protocols and a blockchain-based option to reinforce genetic profile´s integrity. GENis is able to perform genetic profile queries of autosomal STR’s and its design follows ENFSI22European Network of Forensic Sciences Institutes. and ISFG33International Society of Forensic Genetics. standards and recommendations. In this work, we present a summary of GENis system design and architecture, the implemented matching rule definitions and the framework used to provide statistical significance to profile matches.
Missing person cases typically require a genetic kinship test to determine the relationship between an unidentified individual and the relatives of the missing person. When not enough genetic ...evidence has been collected the lack of statistical power of these tests might lead to unreliable results. This is particularly true when just a few distant relatives are available for genotyping. In this contribution, we considered a Bayesian network approach for kinship testing and proposed several information theoretic metrics in order to quantitatively evaluate the information content of pedigrees. We show how these statistics are related to the widely used likelihood ratio values and could be employed to efficiently prioritize family members in order to optimize the statistical power in missing person problems. Our methodology seamlessly integrates with Bayesian modeling approaches, like the GENis platform that we have recently developed for high-throughput missing person identification tasks. Furthermore, our approach can also be easily incorporated into Elston-Stewart forensic frameworks. To facilitate the application of our methodology, we have developed the forensIT package, freely available on CRAN repository, which implements all the methodologies described in our manuscript.
•We introduced IT metrics to quantify relationship informativeness in familial pedigrees.•IT metrics allow selection of key DNA contributors in missing person cases.•Our method uses advanced algorithms for fast, large-scale kinship analysis.•IT metrics aid to deal with null exclusion-power contributors, when usual methods fail.•Core functionality implemented in open source forensIT R package, available on CRAN.
GENis is a recently published open-source multi-tier information system developed to run forensic DNA databases. It relies on a Bayesian Networks framework and it is particularly well suited to ...efficiently perform large-size queries against databases of missing individuals. In this contribution we present a validation of the missing person identification capabilities of GENis. To that end we introduce fbnet, a free-software package written in the R statistical language that implements the complete GENis functionality to perform kinship analysis based on DNA profiles. With the aid of fbnet, we could validate likelihood ratios against estimations draw with Familias and forrel (two well-recognized R packages for kinship quantification) for complex pedigrees provided by the Argentinian reference databank (Banco Nacional de Datos Geneticos, BNDG). We found that our methodological approach presented an excellent performance in terms of accuracy and computation times.
Jujuy, a province from Northwestern Argentina, has a population with a great input of the Native American gene pool together with European and African contributions. For forensic purposes, a ...frequency population database was built by selecting 500 nonrelated individuals from Jujuy province and genotyping them with 21 autosomal STRs from the kit GlobalFiler™. The genetic profiles were incorporated in GENis (software developed in Argentina for storage and comparison of DNA profiles) to corroborate the lack of matches under high stringency. After this confirmation, we performed a searching strategy with low stringency, often used to find parent-child relationships. As a result, four (4) adventitious matches were found. One hundred (100) populations were simulated; with 500 random genetic profiles each one, using Jujuy allele frequencies. The coincidences for these populations were on average 2.07 (95% CI: 1.77–2.36) and there were no significant differences between Jujuy and the simulated populations. It is known that the number of adventitious matches increases when you go down with search stringency in DNA databases. Thus, care should be taken when searching for first-degree relationships, even with a high number of markers. LR calculations and complementary studies (such as extra autosomal markers, Y chromosome, and mitochondrial DNA) should be performed in this kind of search.
Duodeno-pancreatic and extrahepatic biliary tree injuries are rare in both adult and pediatric trauma patients, and due to their anatomical location, associated injuries are very common. Mortality is ...primarily related to associated injuries, but morbidity remains high even in isolated injuries. Optimal management of duodeno-bilio-pancreatic injuries is dictated primarily by hemodynamic stability, clinical presentation, and grade of injury. Endoscopic and percutaneous interventions have increased the ability to non-operatively manage these injuries. Late diagnosis and treatment are both associated to increased morbidity and mortality. Sequelae of late presentations of pancreatic injury and complications of severe pancreatic trauma are also increasingly addressed endoscopically and with interventional radiology procedures. However, for moderate and severe extrahepatic biliary and severe duodeno-pancreatic injuries, immediate operative intervention is preferred as associated injuries are frequent and commonly present with hemodynamic instability or peritonitis. The aim of this paper is to present the World Society of Emergency Surgery (WSES) and American Association for the Surgery of Trauma (AAST) duodenal, pancreatic, and extrahepatic biliary tree trauma management guidelines.
A pandemic recap: lessons we have learned Coccolini, Federico; Cremonini, Camilla; Viaggi, Bruno ...
World journal of emergency surgery,
09/2021, Letnik:
16, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Abstract
On January 2020, the WHO Director General declared that the outbreak constitutes a Public Health Emergency of International Concern. The world has faced a worldwide spread crisis and is ...still dealing with it. The present paper represents a white paper concerning the tough lessons we have learned from the COVID-19 pandemic. Thus, an international and heterogenous multidisciplinary panel of very differentiated people would like to share global experiences and lessons with all interested and especially those responsible for future healthcare decision making. With the present paper, international and heterogenous multidisciplinary panel of very differentiated people would like to share global experiences and lessons with all interested and especially those responsible for future healthcare decision making.
The trauma mortality rate is higher in the elderly compared with younger patients. Ageing is associated with physiological changes in multiple systems and correlated with frailty. Frailty is a risk ...factor for mortality in elderly trauma patients. We aim to provide evidence-based guidelines for the management of geriatric trauma patients to improve it and reduce futile procedures.
Six working groups of expert acute care and trauma surgeons reviewed extensively the literature according to the topic and the PICO question assigned. Statements and recommendations were assessed according to the GRADE methodology and approved by a consensus of experts in the field at the 10th international congress of the WSES in 2023.
The management of elderly trauma patients requires knowledge of ageing physiology, a focused triage, including drug history, frailty assessment, nutritional status, and early activation of trauma protocol to improve outcomes. Acute trauma pain in the elderly has to be managed in a multimodal analgesic approach, to avoid side effects of opioid use. Antibiotic prophylaxis is recommended in penetrating (abdominal, thoracic) trauma, in severely burned and in open fractures elderly patients to decrease septic complications. Antibiotics are not recommended in blunt trauma in the absence of signs of sepsis and septic shock. Venous thromboembolism prophylaxis with LMWH or UFH should be administrated as soon as possible in high and moderate-risk elderly trauma patients according to the renal function, weight of the patient and bleeding risk. A palliative care team should be involved as soon as possible to discuss the end of life in a multidisciplinary approach considering the patient's directives, family feelings and representatives' desires, and all decisions should be shared.
The management of elderly trauma patients requires knowledge of ageing physiology, a focused triage based on assessing frailty and early activation of trauma protocol to improve outcomes. Geriatric Intensive Care Units are needed to care for elderly and frail trauma patients in a multidisciplinary approach to decrease mortality and improve outcomes.
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