Eugenia Carnevali

Università degli Studi di Perugia, Perugia, Umbria, Italy

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Publications (40)28.08 Total impact

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    Full-text · Article · Nov 2015
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    Full-text · Article · Oct 2015
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    ABSTRACT: During the last years, DNA profiling techniques have become more sensitive and mixtures with multiple contributors occur often. Nevertheless, interpretation of mixture profiles is the most complex task in the forensic field. The ISFG published recommendations for the interpretation of mixed DNA profiles that may have allelic drop-out or drop-in. The DNA commission of the ISFG has supported the use of likelihood ratios (LRs) as preferable to other methods. LR can be calculated by probabilistic programs, using semi and fully continuous (probabilistic) methods. These methods increase the efficiency of forensic laboratories and improve the consistency and transparency of the reported results. LRmix is an open-source system dedicated to the interpretation of forensic DNA profiles with a particular focus on complex DNA mixtures. This software is programmed on a LR model and facilitates the calculation of LR for complex mixtures, with partial profiles with known and unknown contributors. Here, we report the re-analysis of two old complex cases processed in our laboratory in the last years. In both cases, we used the software LRmix Studio with interesting consequences: in one case we solved the crime, in the other one, the results allowed the case to be reopened.
    Full-text · Article · Oct 2015 · Forensic Science International Genetics Supplement Series
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    ABSTRACT: In the process of development of modern medicine, organ transplants represent one of the most important and more meaningful achievements, allowing to extend and improve the lives of patients around the world. However, increasing requests and the global lack of organs have created the basis for a highly profitable black market in organs that promotes criminal enterprise.
    Full-text · Article · Sep 2015 · Forensic Science International Genetics Supplement Series
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    ABSTRACT: In the last years, the increased sensitivity of a new generation of STR kits has contributed to a stronger focus on the issue of contamination. DNA contamination can occur by either direct or indirect transfer. Direct transfer includes contact, but also activities within the vicinity of an item that may result in the transfer of DNA from an individual without any contact (speaking or coughing). Indirect transfer of DNA is when DNA from an individual comes to be on an item via an intermediary surface. Contamination within the laboratory may occur as a result of unprotected speaking, through the presence of DNA on unused laboratory gloves, and ineffective cleaning procedures. A recent study noted the transfer of dried blood from and to cotton via tools used during examination (scissors, forceps and gloves), and indicated that these instruments pose a high contamination risk if they are not adequately cleaned. In our work, we analyzed all the gloves used in one day by four operators working in our laboratory. For every glove, we evaluated the presence of contamination DNA from the operator or from other samples. The results are presented here. In forensic caseworks, it is imperative to change gloves every time after touching items or surfaces, prior to touching the exhibit. It is desirable to wear multiple layers of gloves to avoid skin exposure during the changing of gloves.
    Full-text · Article · Sep 2015 · Forensic Science International Genetics Supplement Series
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    ABSTRACT: Lipomas are common benign tumors most frequently found within the subcutaneous areas of the body. Deep-seated lipomas are rare and tend to be larger than cutaneous ones. Lipomas are rarely seen in the thoracic cavity, and they are usually located in the mediastinum, bronchiole, and lungs. Diaphragmatic lipomas have been occasionally reported in the literature, the first being described by Clark et al. in 1886. The authors report two rare cases of giant diaphragmatic lipoma incidentally found during forensic autopsies. In the first case, a Caucasian 85-year-old woman burned to death with another passenger, after her methane-fueled car collided with another car on a highway near Terni, Umbria, Italy. In the second case, a Caucasian 45-year-old man collapsed while walking through the countryside of Perugia. In either case, a large mass in the thorax was observed. The definitive pathologic diagnosis was giant intrathoracic diaphragmatic lipoma without evidence of malignancy. The authors also review the relevant literature and discuss differential diagnoses. These case reports contribute to the establishment of the actual incidence of diaphragmatic lipomas. © 2015 American Academy of Forensic Sciences.
    Full-text · Article · Aug 2015 · Journal of Forensic Sciences
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    ABSTRACT: The ubiquitous presence of plant species makes forensic botany useful for many criminal cases. Particularly, bryophytes are useful for forensic investigations because many of them are clonal and largely distributed. Bryophyte shoots can easily become attached to shoes and clothes and it is possible to be found on footwear, providing links between crime scene and individuals. We report a case of suicide of a young girl happened in Siena, Tuscany, Italia. The cause of traumatic injuries could be ascribed to suicide, to homicide, or to accident. In absence of eyewitnesses who could testify the dynamics of the event, the crime scene investigation was fundamental to clarify the accident. During the scene analysis, some fragments of Tortula muralis Hedw. and Bryum capillare Hedw were found. The fragments were analyzed by a bryologists in order to compare them with the moss present on the stairs that the victim used immediately before the death. The analysis of these bryophytes found at the crime scene allowed to reconstruct the accident. Even if this evidence, of course, is circumstantial, it can be useful in forensic cases, together with the other evidences, to reconstruct the dynamics of events. Copyright © 2015 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.
    Full-text · Article · Jun 2015 · Journal of Forensic and Legal Medicine
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    ABSTRACT: There are three types of motorcycle accidents: crashes against a fixed non-vehicular object; crashes between motorcycle and another motor vehicle; other harmful action. Crashes against guardrails are included in the first crash category. Guardrails are roadside barriers erected to restrain vehicles whose driver has lost control in order to reduce the severity of collisions with off-road fixed objects. Despite such measures, guardrails may still be inadequate to reduce mortality related to motorcycle crashes. The present authors report a case of a man who died after a collision against a guardrail near an Italian city (L’Aquila). The crash against the pole of the guardrail determined a right angle dent of the upper part of the helmet. This dent led to a fatal fracture of the skull. The authors report this case to underline the necessity to modify crash barrier homologation criteria in Italy, because they may actually fail to protect motorcyclists and be responsible for specific, and sometimes even lethal, lesions.
    Full-text · Article · Apr 2015 · Romanian Journal of Legal Medicine
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    ABSTRACT: Recently introduced rapidly mutating Y-chromosomal short tandem repeat (RM Y-STR) loci, displaying a multiple-fold higher mutation rate relative to any other Y-STRs, including those conventionally used in forensic casework, have been demonstrated to improve the resolution of male lineage differentiation and to allow male relative separation usually impossible with standard Y-STRs. However, large and geographically-detailed frequency haplotype databases are required to estimate the statistical weight of RM Y-STR haplotype matches if observed in forensic casework. With this in mind, the Italian Working Group (GEFI) of the International Society for Forensic Genetics launched a collaborative exercise aimed at generating an Italian quality controlled forensic RM Y-STR haplotype database. Overall 1509 male individuals from 13 regional populations covering northern, central and southern areas of the Italian peninsula plus Sicily were collected, including both "rural" and "urban" samples classified according to population density in the sampling area. A subset of individuals was additionally genotyped for Y-STR loci included in the Yfiler and PowerPlex Y23 (PPY23) systems (75% and 62%, respectively), allowing the comparison of RM and conventional Y-STRs. Considering the whole set of 13 RM Y-STRs, 1501 unique haplotypes were observed among the 1509 sampled Italian men with a haplotype diversity of 0.999996, largely superior to Yfiler and PPY23 with 0.999914 and 0.999950, respectively. AMOVA indicated that 99.996% of the haplotype variation was within populations, confirming that genetic-geographic structure is almost undetected by RM Y-STRs. Haplotype sharing among regional Italian populations was not observed at all with the complete set of 13 RM Y-STRs. Haplotype sharing within Italian populations was very rare (0.27% non-unique haplotypes), and lower in urban (0.22%) than rural (0.29%) areas. Additionally, 422 father-son pairs were investigated, and 20.1% of them could be discriminated by the whole set of 13 RM Y-STRs, which was very close to the theoretically expected estimate of 19.5% given the mutation rates of the markers used. Results obtained from a high-coverage Italian haplotype dataset confirm on the regional scale the exceptional ability of RM Y-STRs to resolve male lineages previously observed globally, and attest the unsurpassed value of RM Y-STRs for male-relative differentiation purposes. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.
    Full-text · Article · Oct 2014 · Forensic Science International: Genetics
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    ABSTRACT: Long-distance truck drivers have been found to be associated with many medical problems because of their lifestyle and work environment. Many studies have revealed an increased risk in sexually transmitted infections, musculoskeletal disease, sleep disorders, hypertension, gastrointestinal disease, substance abuse and alcoholism, lung cancer, as well as human immunodeficiency virus infection. To our knowledge, there are no any articles about a fatal case of pulmonary thromboembolism. We report a case of a 45-year-old truck driver, who was found dead in his truck at a service station along the A1 motorway in Umbria, Italy. Autopsy findings revealed pulmonary thromboembolism as cause of death. Our report underlies that future actions must be addressed to provide health care access to this vulnerable, medically underserved population.
    Full-text · Article · Oct 2014 · American Journal of Forensic Medicine & Pathology
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    ABSTRACT: The role of DNA damage in PCR processivity/fidelity is a relevant topic in molecular investigation of aged/forensic samples. In order to reproduce one of the most common lesions occurring in postmortem tissues, a new protocol based on aqueous hydrolysis of the DNA was developed in vitro. Twenty-five forensic laboratories were then provided with 3.0 μg of a trial sample (TS) exhibiting, in mean, the loss of 1 base of 20, and a molecular weight below 300 bp. Each participating laboratory could freely choose any combination of methods, leading to the quantification and to the definition of the STR profile of the TS, through the documentation of each step of the analytical approaches selected. The results of the TS quantification by qPCR showed significant differences in the amount of DNA recorded by the participating laboratories using different commercial kits. These data show that only DNA quantification "relative" to the used kit (probe) is possible, being the "absolute" amount of DNA inversely related to the length of the target region (r2 = 0.891). In addition, our results indicate that the absence of a shared stable and certified reference quantitative standard is also likely involved. STR profiling was carried out selecting five different commercial kits and amplifying the TS for a total number of 212 multiplex PCRs, thus representing an interesting overview of the different analytical protocols used by the participating laboratories. Nine laboratories decided to characterize the TS using a single kit, with a number of amplifications varying from 2 to 12, obtaining only partial STR profiles. Most of the participants determined partial or full profiles using a combination of two or more kits, and a number of amplifications varying from 2 to 27. The performance of each laboratory was described in terms of number of correctly characterized loci, dropped-out markers, unreliable genotypes, and incorrect results. The incidence of unreliable and incorrect genotypes was found to be higher for participants carrying out a limited number of amplifications, insufficient to define the correct genotypes from damaged DNA samples such as the TS. Finally, from a dataset containing about 4500 amplicons, the frequency of PCR artifacts (allele dropout, allele drop-in, and allelic imbalance) was calculated for each kit showing that the new chemistry of the kits is not able to overcome the concern of template-related factors. The results of this collaborative exercise emphasize the advantages of using a standardized degraded DNA sample in the definition of which analytical parameters are critical for the outcome of the STR profiles.
    Full-text · Article · Aug 2014 · Electrophoresis
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    ABSTRACT: Suicide by self-incineration is an uncommon method of suicide in the western world in contrast with Asian countries, where this type of suicide is more common. If there is a lack of witnesses, genetic analysis for identification is mandatory, especially when anthropologic or dental identification is barely significant.The authors report a case of self-incineration of a 55-year-old white man, which occurred near Siena, Tuscany, Italy.The recovered bones were classified according to the Crow-Glassman scale and assigned to category 5 (the highest extent of combustion according to this scale). Therefore, because of the extent of the bone damage, analyzing the residual soft tissue around the pelvic bones was the only way to reach a genetic identification.The authors report this case to emphasize that even if the highest level of burn injury to human body is reached, an accurate analysis of the findings may lead to a genetic identification. In these cases, an efficient cooperation among police, fire experts, and forensics is necessary, especially because it is the only way to determine if the modality of death was accidental, suicidal, or homicidal.
    Full-text · Article · Jun 2014 · American Journal of Forensic Medicine & Pathology
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    Lancia M. · Carnevali E. · Caenazzo L. · Severini S. · Margiotta G · Bacci M.

    Full-text · Conference Paper · Nov 2013
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    Full-text · Dataset · Feb 2013
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    Gabriele Margiotta · Simona Severini · Eugenia Carnevali

    Full-text · Chapter · Jan 2013
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    ABSTRACT: The 2011 collaborative exercise of the ISFG Italian Working Group GeFI was aimed at validating the five ENFSI/EDNAP miniSTR loci D1S1656, D2S441, D10S1248, D12S391 and D22S1045. The protocol required to type at least 50 multilocus profiles from locally resident individuals and two blind bloodstains in duplicate (i.e., using at least two different commercial kits), and to send the electropherograms to the Organizing Committee. Nineteen laboratories distributed across Italy participated, collecting a total of 960 samples. Full concordance was found for the five new miniSTRs as observed from the comparison of 13,150 alleles. The inspection of the electropherograms allowed the identification of a very limited number of mistypings in the miniSTR genotypes thus contributing to the establishment of an high quality Italian database of frequencies.
    Full-text · Article · Aug 2012 · Forensic Science International: Genetics
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    ABSTRACT: Genetic markers represent a very important tool in forensic identification caseworks, in family relationships as well as in criminal analysis. The discrimination power of current genetic polymorphisms is so high that the inferential process can be efficiently used even in cases where direct knowledge on the genetic data of one of the terms in comparison is lacking. However in some cases despite the use of Probabilistic Expert Systems (FINEX) it is not always possible to achieve an acceptable percentage of paternity probability. Certainly one of these cases is the request to verify the relationship between two half-siblings of different gender in the absence of data from parents. In these cases it is not possible to use important tools such as polymorphisms of sexual chromosomes, so that the only possible approach is to increase the number of autosomal STRs. Therefore the authors decided to investigate 36 pairs of half-siblings with known relationships from different parts of Italy, using a high number of autosomal STRs. The aim of this study is to verify whether, increasing the number of autosomal STRs analyzed, the application of PES allows to achieve an acceptable value of paternity probability without availability of parents’ profiles.
    Full-text · Article · Mar 2012 · Forensic Science International Genetics Supplement Series
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    M Lancia · S Severini · A Coletti · G Margiotta · M Dobosz · E Carnevali
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    ABSTRACT: The X-chromosomal markers are increasingly used in forensic genetics, particularly for relationship testing. Their use has become a valuable tool in complex cases of kinship but rather in criminal caseworks is still quite rare. In this paper the authors present a case of sexual assault in which the use of X chromosome polymorphisms has been crucial. The victim was a young immigrant woman found dead in her home. The main suspect was her husband. However, the couple lived in a community in which the particular cultural context suggested the involvement of the other males of the husband family. The suspect lived together with his brother, his father and his uncle. Generally, a useful tool to solve cases of sexual violence is undoubtedly the use of Y chromosome, but in this case this device could not discriminate between the four males involved. An additional factor has further complicated the situation: the most important biological evidence (typed with AmpFlSTR Identifiler and AmpFlSTR NGM) showed a mixed profile in which was very difficult to discriminate the suspects profiles. To solve the casework, the authors typed the victim, the suspects and the biological traces with 6 X-STRs in an homemade esaplex. The results showed the presence of victim and her husband profiles in the biological trace excluding his brother, father and uncle's profiles.
    Full-text · Article · Dec 2011 · Forensic Science International Genetics Supplement Series
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    S Severini · M Lancia · S Massetti · A Coletti · L Carlini · E Carnevali
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    ABSTRACT: In recent years, European working groups (ENFSI-EDNAP) have strongly encouraged the development of new amplification kits that allow to obtain DNA profiles even on difficult samples (degraded samples, presence of inhibitory substances, LCN, mixtures, etc.). To enable the amplification of difficult biological samples the new loci were designed to achieve greater resistance to inhibitors and most robust and uniform amplification. With the aim of evaluating the performance of latest generation kits in real forensic caseworks the authors retested some bone samples previously analyzed in their laboratory over the past five years with the old commercial kits. The authors compared the performance of AmpFℓSTR® NGM™ PCR Amplification kit (Applied Biosystems) with PowerPlex® ESX 17 systems (Promega). The twelve analyzed samples came from eight exhumed corpses and four bodies found outdoor in the advanced stage of putrefaction. For the genetic investigation the authors used a piece of bone taken from the femur. In conclusion, the authors can claim that the latest generation kits have proved to be decisive in all cases, including those where the previous use of traditional kits did not produce reliable and uniquely interpretable results.
    Full-text · Article · Dec 2011 · Forensic Science International Genetics Supplement Series
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    ABSTRACT: We collected published and unpublished data from 17 contributing groups participating in the GeFI (Italian Forensic Geneticists). The total number of typed subjects was 1114 males and 777 females, coming from 11 regions of North, Centre, and South Italy, and Sardinia. Individual's multilocus genotypes included 4–12 loci. The total number of typed markers was 29, scattered along the X-chromosome genetic map in several clusters; the most used marker was DXS7423 (2429 gene copies); the mean number of subjects typed per marker was 336 for males and 208 for females. Data are available online.
    Full-text · Article · Dec 2011 · Forensic Science International Genetics Supplement Series