Publications by authors named "Pamela Tozzo"

33 Publications

Pitfalls in interpreting autosomal InDel markers profiling: A study on mutations in tumoural specimens.

Forensic Sci Int Genet 2021 Mar 16;51:102429. Epub 2020 Nov 16.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121 Padova, Italy.

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http://dx.doi.org/10.1016/j.fsigen.2020.102429DOI Listing
March 2021

Trick or Treating in Forensics-The Challenge of the Saliva Microbiome: A Narrative Review.

Microorganisms 2020 Sep 29;8(10). Epub 2020 Sep 29.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121 Padova, Italy.

The oral microbiome harbours microbial community signatures that differ among individuals, highlighting that it could be highly individualizing and potentially unique to each individual. Therefore, the oral microbial traces collected in crime scenes could produce investigative leads. This narrative review will describe the current state-of-the-art of how the salivary microbiome could be exploited as a genetic signature to make inferences in the forensic field. This review has been performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Guidelines. Even if further studies are needed to relate the variation in the oral microbiome to specific factors, in order to understand how the salivary microbiome is influenced by an individual's lifestyle, by reviewing the studies published so far, it is clear that the oral microbial analysis could become a useful forensic tool. Even if promising, caution is required in interpreting the results and an effort to direct research towards studies that fill the current knowledge gaps is certainly useful.
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http://dx.doi.org/10.3390/microorganisms8101501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7599466PMC
September 2020

New Frontiers and Old Challenges: How to Manage Incidental Findings When Forensic Diagnosis Goes Beyond.

Diagnostics (Basel) 2020 Sep 22;10(9). Epub 2020 Sep 22.

Centre for Biomedical Ethics and Law, Faculty of Medicine-KU Leuven, Kapucijnenvoer 35 Box 7001, 3000 Leuven, Belgium.

Incidental findings (IFs) are well known in medical research and clinical practice as unexpected findings having potential health or reproductive importance for an individual. IFs are discovered under different contexts but do not fall within the aim of a study, and/or are unanticipated or unintentionally revealed, and/or are not the specific focus or target of the particular research or clinical query. Today, in forensic settings, we can consider as incidental findings all the information that is neither related to the cause of death nor to the dynamic of the event or the scope of the forensic investigation. The question whether and how professionals should consider traditional values as guiding notions in the reporting of IFs in the context of forensic assessments is the focus of this article. We propose a descriptive analysis, which focuses on the forensic field, describing forensic situations in which IFs may occur, and whether and to whom they may be disclosed. Some considerations will be provided regarding forensic experts concerning their moral commitment to warn relatives about IFs.
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http://dx.doi.org/10.3390/diagnostics10090731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555971PMC
September 2020

Incidental findings in forensics: are we sure that it is a question easy to deal with?

Int J Legal Med 2021 Mar 15;135(2):591-592. Epub 2020 Sep 15.

Centre for Biomedical Ethics and Law, Faculty of Medicine, KU Leuven, Kapucijnenvoer 35, Box 7001, 3000, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00414-020-02427-5DOI Listing
March 2021

The Skeleton in the Closet: Faults and Strengths of Public Versus Private Genetic Biobanks.

Biomolecules 2020 09 3;10(9). Epub 2020 Sep 3.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, 35121 Padova, Italy.

Direct-to-consumer (DTC) genetic testing has been a major ethical controversy related to clinical utility, the availability of pre- and post-genetic counseling, privacy concerns, and the risk of discrimination and stigmatization. The development of direct-to-consumer genetic testing cannot leave aside some considerations on how the samples are managed once the analyses have been completed and the customer has received a response. The possibility that these samples are maintained by the structure for future research uses, explains the definition, which has been proposed in the literature, of these structures such as private genetic biobanks. The most relevant aspects that may impact ethical aspects, allowing a comparison between the public and private dimensions of genetic biobanks, are mainly transparency and participant/donor trust. The article aims to analyze the main line of ethical debate related to the mentioned practices and to explore whether market-based and consumer rights regarding DTC genetic testing can be counterbalanced by healthcare system developments based on policies that encourage the donation of samples in the context of public biobanks. A platform for dialogue, both technical-scientific and ethical, is indispensable between the public sector, the private sector and citizens to truly maximize both transparency and public trust in both contexts.
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http://dx.doi.org/10.3390/biom10091273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564942PMC
September 2020

Leonardo Botallo (1530-1587) and his pioneering contributions to traumatology, cardiology and deontology.

J Med Biogr 2020 Jul 14:967772020940976. Epub 2020 Jul 14.

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.

Leonardo Botallo (1530-c. 1587) is widely known for the eponymous "foramen Botalli" and "ductus Botalli". The first, most commonly named "foramen ovale", allows blood in the fetal heart to enter the left atrium from the right atrium. The second, named "ductus arteriosus", consists of a blood vessel in the developing fetus connecting the trunk of the pulmonary artery to the proximal descending aorta. However, Botallo was a multifaceted figure who studied many aspects of human anatomy and physiology, also making important contributions to clinical and surgical practices. Moreover, as we will see in the last section of this paper, Botallo wrote a book on medical deontology having significant features in relationship to the history of medical ethics. Botallo's multidisciplinary approach is a typical characteristic of Renaissance physicians and scientists, who contributed to making this period a fundamental prelude to the scientific revolution of the 17th century.
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http://dx.doi.org/10.1177/0967772020940976DOI Listing
July 2020

To take care of those on the front line against Covid-19: Is it possible to limit medical liability?

Sci Justice 2020 07 19;60(4):311-312. Epub 2020 May 19.

Department of Molecular Medicine, University of Padova, Via Falloppio 50, 35121 Padova, Italy.

In the context of the COVID-19 pandemic, it is important not to forget, when the emergency is controlled or even over, that those who today are defined in all Countries as "heroes" could in the future be called to answer for alleged damage from professional liability. It is necessary to be prepared, both as health professionals and from a legal and governmental point of view, for a surge of professional liability claims which, with high probability, will begin to emerge in the coming months.
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http://dx.doi.org/10.1016/j.scijus.2020.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7235591PMC
July 2020

Evaluation of critical aspects in clinical and forensic management of sexual violence: A multicentre Ge.F.I. project.

Forensic Sci Int 2020 Sep 23;314:110387. Epub 2020 Jun 23.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121 Padova, Italy. Electronic address:

Violence against women is a violation of human rights, crossing all cultures, classes, levels of education, earnings, ethnic and age groups. We conducted a retrospective study to review forensic records of sexual assault examinations carried out in different Italian health facilities and to correlate these findings with the results of the forensic DNA analyses. The goal was to determine which factors could have affected the obtained results, to identify the fundamental aspects to search for while examining a sexual assault victim in order to gather useful evidence to identify the offender and reconstruct the dynamics of the fact. We analysed 102 cases that occurred between 2006 and 2017, coming from ten participating laboratories. Despite a relatively limited number of cases, this study shows that the ability to ascertain the presence of male biological material in the samples collected is not a problem for forensic laboratories and seems to be influenced by other factors, such as how much time elapsed between the event and the sampling, the availability of the aggressor's biological material on the victim and the identification of biological fluids/stains. Therefore, the need for health structures to adopt specific protocols has been highlighted. It is necessary for health structures to define specific pathways and adopt homogeneous procedures or operational protocols, and it is essential to provide adequate training for health personnel. The results of the study could be useful in drafting and revising protocols/guidelines implemented in Italian hospital. Issues related to the limited number of analyses requested by Italian Authorities are also discussed.
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http://dx.doi.org/10.1016/j.forsciint.2020.110387DOI Listing
September 2020

Science Runs and the Debate Brakes: Somatic Gene-Editing as a New Tool for Gender-Specific Medicine in Alzheimer's Disease.

Brain Sci 2020 Jul 2;10(7). Epub 2020 Jul 2.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121 Padova, Italy.

Gender-specific medicine is a discipline that studies the influence of sex and gender on physiology, pathophysiology, and diseases. One example in light of how a genetic-based disease among other diseases, that impact on sex, can be represented by the risk of developing dementia or Alzheimer's disease. The question that comes into focus is whether gene-editing can represent a new line of investigation to be explored in the development of personalized, gender-specific medicine that guarantees gender equity in health policies. This article aims to discuss the relevance of adopting a gender-specific focus on gene-editing research, considered as a way of contributing to the advance of medicine's understanding, treatment, and prevention of dementia, particularly Alzheimer's disease. The development or improvement of cures could take advantage of the knowledge of the gender diversity in order to ascertain and develop differential interventions also at the genetic level between women and men, and this deserves special attention and deep ethical reflection.
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http://dx.doi.org/10.3390/brainsci10070421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408320PMC
July 2020

Combined Statistical Analyses of Forensic Evidence in Sexual Assault: A Case Report and Brief Review of the Literature.

J Forensic Sci 2020 Sep 2;65(5):1767-1773. Epub 2020 Jul 2.

Department of Chemical Sciences, University of Padova, via Marzolo 1, Padova, 35131, Italy.

DNA analysis has been widely used in the forensic field in order to contribute to identifying the perpetrator of a crime. Forensic investigation in sexual assaults usually focuses on locating and identifying biological fluids, followed by DNA analysis. The identification of certain compounds present in condoms can be useful to reconstruct the occurred event, especially in cases of sexual assaults where the DNA analysis did not show the presence of a male profile and where RNA analysis did not show the presence of sperm markers. Herein we describe the case of a woman reporting to be victim of sexual assault, who was not able to provide accurate information concerning the dynamics of the event; she remembered only forced penile-vaginal penetration by a single perpetrator. We performed short tandem repeat (STR) analyses and mRNA typing for forensic genetics testing on vaginal and rectal swabs collected on the victim, and Fourier-transform infrared spectroscopy (FTIR) followed by chromatographic analyses for the detection of condom compounds on the same swabs. The STR analysis showed only the victim's genetic profile, and RNA analysis showed only the presence of vaginal and skin markers. In this situation, the identification of condom compounds residues on vaginal swabs became important as it complemented other collected evidences allowing the Court to reconstruct the events. A proposal of likelihood ratio (LR) calculation for the assessment of the weight of evidence in this case is described.
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http://dx.doi.org/10.1111/1556-4029.14487DOI Listing
September 2020

Prisoners in a pandemic: We should think about detainees during Covid-19 outbreak.

Forensic Sci Int 2020 3;2:162-163. Epub 2020 Jun 3.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Italy.

In Italy, where the Covid-19 emergency developed immediately after China, the spread of the pandemic has highlighted some unsolved problems inherent to the prison system. This theme is already, unfortunately, of distressing topicality. Among these, the complex balance between the security needs and the protection of the prisoner's right to health deserves particular attention. The detainees, in fact, constitute a group particularly vulnerable to the spread of an infectious disease, both because they have an average level of health lower than that of the general population, and because they live forced in cramped, overcrowded, poorly ventilated environments, in which it is not always possible to observe the general hygiene rules. For these reasons, during the ongoing pandemic emergency, it could be even more difficult to concretely protect the right to health of this portion of the population.
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http://dx.doi.org/10.1016/j.fsisyn.2020.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286952PMC
June 2020

Skin Microbiome Analysis for Forensic Human Identification: What Do We Know So Far?

Microorganisms 2020 Jun 9;8(6). Epub 2020 Jun 9.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, 35121 Padova, Italy.

Microbiome research is a highly transdisciplinary field with a wide range of applications and methods for studying it, involving different computational approaches and models. The fact that different people host radically different microbiota highlights forensic perspectives in understanding what leads to this variation and what regulates it, in order to effectively use microbes as forensic evidence. This narrative review provides an overview of some of the main scientific works so far produced, focusing on the potentiality of using skin microbiome profiling for human identification in forensics. This review was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The examined literature clearly ascertains that skin microbial communities, although personalized, vary systematically across body sites and time, with intrapersonal differences over time smaller than interpersonal ones, showing such a high degree of spatial and temporal variability that the degree and nature of this variability can constitute in itself an important parameter useful in distinguishing individuals from one another. Even making the effort to organically synthesize all results achieved until now, it is quite evident that these results are still the pieces of a puzzle, which is not yet complete.
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http://dx.doi.org/10.3390/microorganisms8060873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7356928PMC
June 2020

The Role of DNA Degradation in the Estimation of Post-Mortem Interval: A Systematic Review of the Current Literature.

Int J Mol Sci 2020 May 17;21(10). Epub 2020 May 17.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, 35122 Padova, Italy.

The determination of the post-mortal interval (PMI) is an extremely discussed topic in the literature and of deep forensic interest, for which various types of methods have been proposed. The aim of the manuscript is to provide a review of the studies on the post-mortem DNA degradation used for estimating PMI. This review has been performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and the PRISMA Guidelines. Several analytical techniques have been proposed to analyse the post-mortem DNA degradation in order to use it to estimate the PMI. Studies focused mainly on animal models and on particular tissues. The results have been mixed: while on the one hand literature data in this field have confirmed that in the post-mortem several degradation processes involve nucleic acids, on the other hand some fundamental aspects are still little explored: the influence of ante and post-mortem factors on DNA degradation, the feasibility and applicability of a multiparametric mathematical model that takes into account DNA degradation and the definition of one or more target organs in order to standardize the results on human cases under standard conditions.
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http://dx.doi.org/10.3390/ijms21103540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278928PMC
May 2020

Analysis of RNA in the estimation of post-mortem interval: a review of current evidence.

Int J Legal Med 2019 Nov 18;133(6):1629-1640. Epub 2019 Jul 18.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121, Padua, Italy.

Post-mortem interval (PMI) determination is one of the most important issues in forensic sciences. In the past, forensic scientists provided different approaches (physical, chemical, and entomological) for the estimation of PMI without success.However, advances in molecular biology over the last two decades have allowed us to assess the time-dependent degradation of biological markers (e.g., proteins, DNA, and RNA). Thus, the aim of the manuscript is to provide a review of the recent progress in the estimation of PMI using molecular biology methods, mainly focusing on the potential usefulness of RNA markers. To this end, 29 studies have been systematically reviewed, each one chosen according to specific inclusion/exclusion criteria. The selected studies evaluated the contribution of endogenous reference genes in different biological samples in order to determine the PMI based on post-mortem RNA degradation as a function of other influencing factors such as time, cause of death, and environmental conditions.
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http://dx.doi.org/10.1007/s00414-019-02125-xDOI Listing
November 2019

Genetic identification of endoscopic biopsies after unnecessary gastrectomy: Case report and medico-legal evaluation.

Int J Surg Case Rep 2019 7;59:4-6. Epub 2019 May 7.

Department of Molecular Medicine, University of Padova, Via Falloppio 50, 35121 Padova, Italy. Electronic address:

Introduction: Forensic genetic laboratories analyse samples included in paraffin to verify the genetic correspondence of histological samples, from living subjects or cadavers, in cases where there is a suspicion of contamination of samples with tissues of other patients.

Presentation Of The Case: A case of a man subjected to a gastrectomy as a result of a histological diagnosis of gastric adenocarcinoma after endoscopic biopsies is reported. The microscopic analysis on the gastric tissue after the gastrectomy excluded the presence of cancer. Having suspected a diagnostic error, a microscopic revision of the biopsies was performed and confirmed the presence of cancer cells but led to a hypothesis that there had been contamination with foreign intestinal tissue. The genetic analysis performed on various pieces of tissue, despite the reduced amount of biological material, succeeded in identifying the presence of two incomplete genetic profiles, one of which belonged to a subject of the opposite sex.

Discussion: The case raised many questions about the process of setting up histological specimens. Even though it is impossible to identify the healthcare professionals responsible for contamination, the organizational error during the management of biopsies has significantly affected the clinical case of the patient, who underwent a gastrectomy for cancer that was not present.

Conclusion: This case is not simply an example of diagnostic error and related unnecessary surgery, but it has raised some doubts about patient management and it has led us to some medical-legal cause for reflection in the field of professional liability.
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http://dx.doi.org/10.1016/j.ijscr.2019.04.047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6517524PMC
May 2019

Understanding social oocyte freezing in Italy: a scoping survey on university female students' awareness and attitudes.

Life Sci Soc Policy 2019 May 3;15(1). Epub 2019 May 3.

Department of Molecular Medicine, University of Padova, via Falloppio 50, 35121, Padova, Italy.

In Western countries, a social trend toward delaying childbearing has been observed in women of reproductive age for the last two decades. This delay is due to different factors related to lifestyle, such as the development of a professional career or the absence of the right partner. As a consequence, women who defer childbearing may find themselves affected by age-related infertility when they decide to conceive. Fertility preservation techniques are, therefore, proposed as a solution for these women. Among all possible solutions, social freezing is an alternative strongly discussed from a scientific, social and ethical point of view.A survey among 930 female students at the University of Padova (Italy) investigated their knowledge and attitudes on social egg freezing and their potential intentions regarding this procedure. To our knowledge, this is the first study to examine the level of awareness of age-related infertility in Italian young women and their attitudes regarding acceptable indications for elective oocyte freezing, their potential personal use, the circumstances in which they would then decide to use cryopreserved eggs, and their attitudes towards cost coverage and oocyte donation.Data collected in this study revealed some important points about young women and their knowledge about social oocyte freezing in Italy as compared to other European countries and the United States.Overall, 34.3% of the students reported having heard about the possibility of oocyte cryopreservation for non-medical reasons and being aware of the meaning of this procedure; only 19.5% were in favour of social egg freezing and 48.4% thought that the cost for this procedure should be borne entirely by the woman herself. Regarding egg donation, the majority of students (64.9%) would not accept donating their eggs to a known woman or couple and 42.5% would instead accept donating to a biobank.Our study shows that young Italian women are significantly less aware of age-related decline in fertility and the possibility of using social egg freezing compared to their similarly situated counterparts in other Western countries.
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http://dx.doi.org/10.1186/s40504-019-0092-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498620PMC
May 2019

Social egg freezing under public health perspective: Just a medical reality or a women's right? An ethical case analysis.

J Public Health Res 2018 Dec 20;7(3):1484. Epub 2018 Dec 20.

Department of Molecular Medicine, University of Padua, Italy.

In recent years, a social trend toward delaying childbearing has been observed in women of reproductive age. A novel technomedical innovation was commercialized for non-medical reasons to healthy, ostensibly fertile women, who wished to postpone motherhood for various reasons such as educational or career demands, or because they had not yet found a partner. As a consequence, these women may be affected by age-related infertility when they decide to conceive, and fertility preservation techniques can be obtained through the so-called . This paper examines, from an ethical point of view, the impact of social egg freezing under some aspects that can involve policy making and resources allocation in public health. Due to the increasing demand for this procedure, some debated issues regard if it is reasonable to include social egg freezing in Public Healthcare System and consequently how to manage the storage of cryopreserved oocytes also from individual donors, how to support these egg banks and how to face, in the future, with the possibility that egg freezing will play a role in enabling childbearing for gays, lesbians, and unmarried persons. Social freezing may be advertised to harmonise gender differences, but we wonder if it is the proper solution to the problem or if it could also create further challenges. An ethical argumentation on these topics should address some questions that will be discussed.
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http://dx.doi.org/10.4081/jphr.2018.1484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321944PMC
December 2018

The Importance of Distinguishing Menstrual and Peripheral Blood in Forensic Casework: A Case Report.

Am J Forensic Med Pathol 2018 Dec;39(4):337-340

From the Department of Molecular Medicine, University of Padova, Padova, Italy.

This report presents a case of an 18-year-old woman found unconscious by police officers outside a club suspected to be victim of a sexual assault. She was not able to give information about the dynamics of the assault, since she was under the effect of a high amount of alcohol. She affirmed to be virgin.The forensic genetic analyses were performed on vaginal and rectal swabs as well as bloody-like traces present on the slip. DNA and RNA analysis were performed using a multiplex for 15 autosomal short tandem repeat markers and of 19 primers specific for different tissues, respectively.No male DNA was identified on vaginal and rectal swabs and on blood spots on the underwear. Blood, vaginal, and skin markers were scored observed in the samples obtained from slip traces and vaginal swab.The forensic genetic analysis supports the proposition that the victim had a sexual intercourse, in the absence of male biological material, in a case where the victim, altered by high blood alcohol levels, was unable to provide information.
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http://dx.doi.org/10.1097/PAF.0000000000000414DOI Listing
December 2018

Collecting sexual assault history and forensic evidence from adult women in the emergency department: a retrospective study.

BMC Health Serv Res 2018 05 29;18(1):383. Epub 2018 May 29.

Department of Molecular Medicine, Laboratory of Forensic Genetics, University of Padova, Via Falloppio 50, 35121, Padova, Italy.

Background: The objective of this retrospective study was to examine the discrepancy between information derived from written medical reports and the results of forensic DNA analyses on swabs collected from the victims in 122 cases of alleged sexual assault treated at the Emergency Department of Padua Hospital. The examination of discrepant results has proved useful to support a broader application of sexual assault management, particularly during the taking of case history.

Methods: The Laboratory of Forensic Genetics of Padua University have processed samples from 122 sexual assault cases over a period of 5 years.

Results: Of the 103 cases in which the victim reported a penetration and ejaculation, only 67 (55% of all the samples) correlated with positive feedback match from the laboratory. In 36 cases in which the patient reported penetration with ejaculation, no male DNA was found in the samples collected. Therefore, there was a total of 41 cases in which the patient's report were not supported by laboratory data. In the remaining ten cases, which had an ambiguous history, 3 tested positively for the presence of male DNA.

Conclusions: To avoid discrepancies between the medical reporting and reconstruction of sex crimes, it is crucial to deploy strategies which focus not only on the technical aspects of evidence collection, but also on how the victim's story is recorded; such efforts could lead to better management of sexual assault victims, and to a strengthened legal impact of forensic evidence and of crime reconstruction.
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http://dx.doi.org/10.1186/s12913-018-3205-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975504PMC
May 2018

Certification ISO 9001 in clinical ethics consultation for improving quality and safety in healthcare.

Int J Qual Health Care 2018 Jul;30(6):486-491

Department of Molecular Medicine, University of Padova, Padova, Italy.

This paper refers to the quality management process of the Laboratory of Clinical Bioethics (LCB) of the University of Padua (Italy), which has obtained the quality certification to ISO 9001:2008, as a Clinical Ethics Support Service. Its activities consist mainly in clinical ethics consultations and training services, addressed to those who are called to decisions with ethical implications in the clinical setting, proposing a structured approach to identify and analyze the ethical issues that may loom in the relationships between health professionals and patients, and participating in their solution. The expected benefits of the application of ISO 9001 were mainly the following: to formalize the procedure adopted for clinical ethics consultation and training, to obtain a controlled management of documents, information and data, to ensure and demonstrate the quality of the provided activities and to make methods and organization publicly available. The main results which have been achieved with the 'quality management project' are summarized as follows: the enunciation of LCB Mission and Quality Policy; the drafting of the procedure by which clinical ethics consultation is provided; the formalization of members' skills and the adoption of relevant process and outcome indicators. Our experience may be useful in promoting accountability for the quality of ethics consultation services. We consider the certification process as a tool for transparent and reliable management of one of the most critical tasks in the current context of healthcare, motivating similar facilities to undertake similar pathways, with the aim to provide quality control on their activities.
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http://dx.doi.org/10.1093/intqhc/mzy047DOI Listing
July 2018

Young people's awareness on biobanking and DNA profiling: results of a questionnaire administered to Italian university students.

Life Sci Soc Policy 2017 Dec 10;13(1). Epub 2017 Jun 10.

Department of Molecular Medicine, University of Padova, via Falloppio 50, 35121, Padova, Italy.

Current policy approaches to social and ethical issues surrounding biobanks manifest lack of public information given by researchers and government, despite the evidence that Italian citizens are well informed about technical and other public perspectives of biotechnologies. For this reason, the focus of our survey was to interview our University's students on these aspects. The sample consisted of Padua University students (N = 959), who were administered a questionnaire comprising eight questions covering their knowledge about biobanks, their perception of the related benefits and risks, their willingness to donate samples to a biobank for research purposes, their attitude to having their own DNA profile included in a forensic DNA database, and the reasons behind their answers. The vast majority of the students invited to take part in the survey completed the questionnaire, and the number of participants sufficed to be considered representative of the target population. Despite the respondents' unfamiliarity with the topics explored, suggested by the huge group of respondents answering "I don't know" to the questions regarding Itaian regulation and reality, their answers demonstrate a general agreement to participate in a biobanking scheme for research purposes, as expressed by the 91% of respondents who were reportedly willing to donate their samples. As for the idea of a forensic DNA database, 35% of respondents said they would agree to having their profile included in such a database, even if they were not fully aware of the benefits and risks of such action.This study shows that Italian people with a higher education take a generally positive attitude to the idea of donating biological samples. It contributes to empirical evidence of what Italy's citizens understand about biobanking, and of their willingness to donate samples for research purposes, and also to have their genetic profiles included in a national forensic DNA database. Our findings may have clear implications for the policy discussion on biobanks in Italy, in particular it is important to take into account the Italian population's poor consciousness of forensic DNA database, in order to ensure a better interaction between policy makers and citizens and to make them more aware of the need to balance the individual's rights and the security of society.
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http://dx.doi.org/10.1186/s40504-017-0055-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466852PMC
December 2017

Delayed diagnosis of Wernicke encephalopathy with irreversible neural damage after subtotal gastrectomy for gastric cancer: A case of medical liability?

Int J Surg Case Rep 2017 1;30:76-80. Epub 2016 Dec 1.

Legal Medicine, University of Padova, via Falloppio 50, 35121 Padova, Italy. Electronic address:

Introduction: Wernicke's encephalopathy (WE) is a neurological syndrome caused by thiamine deficiency, and clinically characterized by ophthalmoplegia, ataxia and acute confusion. In developed countries, most cases of WE have been seen in alcohol misusers. Other reported causes are gastrointestinal tract surgery, hyperemesis gravidarum, chronic malnutrition, prolonged total parenteral nutrition without thiamine supplementation, and increased nutrient requirements as in trauma or septic shock. WE is a well-known postoperative complication of gastric restrictive surgery for morbid obesity, after which patients often experience protracted nausea and vomiting, leading to malnutrition and massive weight loss.

Presentation Of Case: This case report concerns WE occurring in a patient who underwent Roux-en-Y subtotal gastrectomy for gastric cancer, and subsequently experienced neurological symptoms that proved irreversible probably due to the lengthy time elapsing between their clinical presentation and the diagnosis of WE.

Discussion: There have been some reports of WE occurring after total or subtotal gastrectomy for gastric cancer in non-obese patients with no history of alcoholism, but monitoring for WE has yet to be recommended in the clinical guidelines in this setting (as it has for bariatric surgery). Because of its rarity and variable clinical presentation, WE is often under-diagnosed and under-treated, and confused with other neurological problems.

Conclusion: There is an urgent need for the specific guidelines to take into account not only the neoplastic follow-up of such patients, but also the possible side effects of necessary surgery, since this could help to ensure the timely diagnosis and management of WE in this setting, and to avoid, when possible, claims for medical malpractice that may cause enormous costs both in economical and professional terms.
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http://dx.doi.org/10.1016/j.ijscr.2016.11.058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5167247PMC
December 2016

An unusual case of chronic cough: Professional liability in dentistry?

Respir Med Case Rep 2016 7;19:190-192. Epub 2016 Oct 7.

Department of Molecular Medicine, University of Padova, via Falloppio 50, 35121 Padova, Italy.

Foreign body aspiration (FBA) is a serious medical problem, also in dental practice. The case report describes the case of a patient who for 12 years has suffered from chronic cough as a result of the aspiration of a polymeric silicone resin fragment during a dental procedure. In November 2002, the patient was underwent dental care, and she points out that, when performing dental imprint, she had sensed that something "went down in the throat" but she was immediately reassured by the dentist. After lung CT was performed, the foreign body was identified and removed with benefit to the patient. The knowledge of this case report could be useful for dentists who perform dental impressions, to be aware of the fact that the material used is radiolucent e.g. cannot be seen on plan radiographs and it can be accidentally inhaled by the patient. The knowledge of the case is also important for doctors who come in contact with patients who previously underwent dental treatment, suffering from persistent cough, in the absence of positive radiological signs.
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http://dx.doi.org/10.1016/j.rmcr.2016.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079355PMC
October 2016

Hospitalized hunger-striking prisoners: the role of ethics consultations.

Med Health Care Philos 2016 Dec;19(4):623-628

Department of Molecular Medicine, University of Padua, Via Falloppio 50, 35121, Padua, Italy.

We refer to hospitalized convicted hunger strikers in Padua Hospital who decided to fast for specific reasons, often demanding, to be heard by the judge, to complain about the existing custodial situation or to claim unjust treatment. The medical ethics of hunger strikers are debated because the use of force feeding by physicians is widely condemned as unethical, but courts, in Italy, sometimes order to transfer the convicted person to hospital and oblige healthcare practitioners to perform forcible feeding. This can engender a profound insecurity for the physicians taking action on the one hand, while preventing patients from fully availing themselves of this principle of self-determination on the other. Physicians are mainly concerned about how to manage this situation and they may request ethical consultation. When it comes to managing hospitalized hunger strikers, the ethics consultant may be able to facilitate the relationship between physicians and hunger strikers, enhance the latter's trust in the former, ensuring that strikers are aware of the risks associated with their fasting, and helping them to arrive of their own free will at the right decision concerning their behavior and their demands.
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http://dx.doi.org/10.1007/s11019-016-9709-2DOI Listing
December 2016

Effect of dactyloscopic powders on DNA profiling from enhanced fingerprints: results from an experimental study.

Am J Forensic Med Pathol 2014 Mar;35(1):68-72

From the University of Padua, Padova, Italy.

We conducted a study on the effect of fingerprint enhancement methods on subsequent short tandem repeat profiling. First, we performed a study typing blood traces deposited on 5 different surfaces, treated with 8 types of dactyloscopic powders. Three different DNA extraction methods were used. Subsequently, we analyzed latent fingerprints on the same 5 surfaces enhanced with the 8 different powders used in the first part of the study. This study has demonstrated that DNA profiling can be performed on fingerprints left on different substrates, and the substrate will affect the amount of DNA that can be recovered for DNA typing. In the first phase of the study, a profile was obtained in 92% of the 120 samples analyzed; in the second part, in 55% of the 80 samples analyzed, we obtained a profile complete in 32.5% of the cases. From the results obtained, it seems that the powders used in latent fingerprints enhancement, rather than having a direct inhibitory effect on extraction and amplification of DNA, may cause partial degradation of DNA, reducing the efficiency of amplification reaction. It should not be forgotten that these results were obtained under laboratory conditions, and in real caseworks, there may still be different problems involved.
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http://dx.doi.org/10.1097/PAF.0000000000000081DOI Listing
March 2014

Ethical issues in DNA identification of human biological material from mass disasters.

Prehosp Disaster Med 2013 Aug 18;28(4):393-6. Epub 2013 Apr 18.

Department of Molecular Medicine, University of Padua, Padova, Italy.

Each mass disaster has its own characteristics and will involve a different approach, so the safeguarding and collection of forensic evidence have to be considered as part of the field response procedure. DNA typing has played a more prominent role in the identification of human remains, and particularly so for highly decomposed and fragmented remains. Although the ultimate goal is to obtain the identification, the specific context of each application of human identity testing has its specific problems, ranging from technical approach, through statistical interpretation, to ethical issues. The preparedness plan of the forensic genetics laboratory needs to include policies for family notification, long-term sample storage, and data archiving. For this reason, DNA sample collection and a strategy for DNA-based victim identification needs to be part of the preparedness plan. In this paper, the authors seek to define three of these ethical aspects: (1) the humanitarian importance of identification; (2) resource allocation in the victims' DNA identification; and (3) the secondary use for research of the samples initially collected for identification purposes. DNA analysis for the purpose of identifying victims of mass disasters has complex implications that demand much more rigorous examination than they have received until now.
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http://dx.doi.org/10.1017/S1049023X1300040XDOI Listing
August 2013

Biobanking research on oncological residual material: a framework between the rights of the individual and the interest of society.

BMC Med Ethics 2013 Apr 2;14:17. Epub 2013 Apr 2.

Department of Molecular Medicine, University of Padova, Via Falloppio 50, 35121 Padua, Italy.

Background: The tissue biobanking of specific biological residual materials, which constitutes a useful resource for medical/scientific research, has raised some ethical issues, such as the need to define which kind of consent is applicable for biological residual materials biobanks.

Discussion: Biobank research cannot be conducted without considering arguments for obtaining the donors' consent: in this paper we discuss to what extent consent in biobank research on oncological residual materials has to be required, and what type of consent would be appropriate in this context, considering the ethical principles of donation, solidarity, protection of the donors' rights and the requirements of scientific progress. Regarding the relationship between informed consent and tissue collection, storage and research, we have focused on two possible choices related to the treatment of data and samples in the biobank: irreversible and reversible anonymization of the samples, distinguishing between biobank research on residual materials for which obtaining consent is necessary and justified, and biobank research for which it is not. The procedures involve different approaches and possible solutions that we will seek to define. The consent for clinical research reported in the Helsinki Declaration regards research involving human beings and for this reason it is subordinate to specific and detailed information on the research projects.

Summary: An important ethical aspect in regard to the role of Biobanks is encouraging sample donation. For donors, seeing human samples being kept rather than discarded, and seeing them become useful for research highlights the importance of the human body and improves the attitude towards donation. This process might also facilitate the giving of informed consent more willingly, and with greater trust.
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http://dx.doi.org/10.1186/1472-6939-14-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616854PMC
April 2013

Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

J Med Ethics 2014 Mar 26;40(3):177-81. Epub 2013 Feb 26.

Department of Molecular Medicine, Legal Medicine Unit, University of Padua, , Padova, Italy.

Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate.
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http://dx.doi.org/10.1136/medethics-2012-101062DOI Listing
March 2014

Genetic Testing for Minors: Comparison between Italian and British Guidelines.

Genet Res Int 2012 6;2012:786930. Epub 2012 Mar 6.

Department of Environmental Medicine and Public Health, Legal Medicine Unit, University of Padua, Via Falloppio 50, 35121 Padua, Italy.

Genetic testing in children raises many important ethical, legal, and social issues. One of the main concerns is the ethically inappropriate genetic testing of minors. Various European countries established professional guidelines which reflect the different countries perspectives regarding the main ethical issues involved. In this paper, we analyze the Italian and the British guidelines by highlighting differences and similarities. We discuss presymptomatic, predictive, and carrier testing because we consider them to be the more ethically problematic types of genetic testing in minors. In our opinion, national guidelines should take into account the different needs in clinical practice. At the same time, in the case of genetic testing the national and supranational protection of minors could be strengthened by approving guidelines based on a common framework of principles and values. We suggest that the Oviedo Convention could represent an example of such a common framework or, at least, it could lead to articulate it.
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http://dx.doi.org/10.1155/2012/786930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335720PMC
August 2012

Discrimination between human and animal DNA: application of a duplex polymerase chain reaction to forensic identification.

Am J Forensic Med Pathol 2011 Jun;32(2):180-2

Department of Environmental Medicine and Public Health, Legal Medicine Section, University of Padua, Padova, Italy.

Identification of a report's species is one of the basic analyses in forensic laboratories. The authors report the case of 6 bone fragments recovered in a wooded area, which were not attributable to 1 animal species on the basis of morphologic examination. The aim of this study was to develop a duplex polymerase chain reaction (PCR) to discriminate human and animal origin of bone fragments. The method is based on the PCR amplification of cytochrome b and a 16S ribosomal mitochondrial DNA fragment, which has never been tested up to now. Our protocol combines a single-round PCR with direct visualization of amplicons in agarose gel, without sequencing analysis of the PCR products. The presence of a single band (359 bp) indicates a nonhuman origin of the sample, whereas 2 bands (157 and 359 bp) indicate a human biologic sample.This method revealed to be useful for forensic purposes because the 16S ribosomal mitochondrial DNA is a small human-specific fragment that is easily amplifiable even with degraded DNA from biologic materials such as old bones.
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http://dx.doi.org/10.1097/PAF.0b013e31820c2bbaDOI Listing
June 2011