Publications by authors named "Francesco De Stefano"

48 Publications

Philemon and Baucis deaths: A case of two siblings and state of the art.

Med Sci Law 2021 Jan;61(1_suppl):82-87

Department of Legal and Forensic Medicine, University of Genova, Italy.

The simultaneous discovery of two corpses at the same scene obliges the forensic pathologist to consider many circumstances. First, the hypothesis of homicide/crime has to be investigated. However, when the circumstances, autopsy, histological data and toxicological and biochemical analyses suggest a natural cause of death, Philemon and Baucis syndrome should be considered. While a few cases of Philemon and Baucis deaths involving couples of spouses have been reported in the literature, only one paper describes the simultaneous deaths of two siblings. The case presented here concerns the death of two siblings who were found in an advanced stage of decomposition in their apartment, which had been allocated to them by social services. The victims were known to be living in conditions of social and economic deprivation and to be suffering from psychiatric disorders. The first suspected cause of death was malnutrition. However, this was excluded by complete autopsy, histological studies and, especially, biochemical investigations, which excluded starvation ketoacidosis. Moreover, no evidence of trauma or poisoning was found in either of the bodies. Despite the advanced stage of decomposition, one of the bodies presented with histological signs of myocardial sclerosis, left ventricular hypertrophy and contraction band necrosis, suggesting that the mechanism of death involved a fatal arrhythmia. The circumstances and the post-mortem findings were highly suggestive of Philemon and Baucis syndrome.
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http://dx.doi.org/10.1177/0025802420936539DOI Listing
January 2021

Medico-legal assessment of personal damage in older people: report from a multidisciplinary consensus conference.

Int J Legal Med 2020 Nov 17;134(6):2319-2334. Epub 2020 Jul 17.

Federation of the Italian Associations of Medico-Legal Experts (FAMLI), Verona, Italy.

Ageing of the global population represents a challenge for national healthcare systems and healthcare professionals, including medico-legal experts, who assess personal damage in an increasing number of older people. Personal damage evaluation in older people is complex, and the scarcity of evidence is hindering the development of formal guidelines on the subject. The main objectives of the first multidisciplinary Consensus Conference on Medico-Legal Assessment of Personal Damage in Older People were to increase knowledge on the subject and establish standard procedures in this field. The conference, organized according to the guidelines issued by the Italian National Institute of Health (ISS), was held in Bologna (Italy) on June 8, 2019 with the support of national scientific societies, professional organizations, and stakeholders. The Scientific Technical Committee prepared 16 questions on 4 thematic areas: (1) differences in injury outcomes in older people compared to younger people and their relevance in personal damage assessment; (2) pre-existing status reconstruction and evaluation; (3) medico-legal examination procedures; (4) multidimensional assessment and scales. The Scientific Secretariat reviewed relevant literature and documents, rated their quality, and summarized evidence. During conference plenary public sessions, 4 pairs of experts reported on each thematic area. After the last session, a multidisciplinary Jury Panel (15 members) drafted the consensus statements. The present report describes Conference methods and results, including a summary of evidence supporting each statement, and areas requiring further investigation. The methodological recommendations issued during the Conference may be useful in several contexts of damage assessment, or to other medico-legal evaluation fields.
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http://dx.doi.org/10.1007/s00414-020-02368-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578136PMC
November 2020

Physicians' perception of the importance of ethical and deontological issues in a major Italian Province: pilot questionnaire and its validation.

Acta Biomed 2019 01 21;90(1):56-67. Epub 2019 Jan 21.

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Background And Aim: This study aims at validating a questionnaire on physicians' knowledge and perception of deontological and ethical rules that guide the medical profession, in a major Italian Province.

Methods: We designed an on-line survey questionnaire. Participants (N=200) were asked to fill in information regarding their demographic features and knowledge of the deontological code.

Results: Concerning the preliminary data, the median total score on knowledge of the deontological code was 0.50. A significant difference in the total score was observed among education groups. Specifically, the median total score among subjects with a specialist qualification was significantly lower than among those with only a medical degree.

Conclusions: The tested instrument and methodology appear to be efficacious and reliable. Our preliminary data indicate that knowledge of the rules concerning medical deontology and the related principles of medical ethics seems to be very limited. Therefore, the authors plan to implement a second phase of the study, which will consist of the questionnaire' distribution to a broader and more representative sample.
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http://dx.doi.org/10.23750/abm.v90i1.7647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502145PMC
January 2019

Bioethics in Italian Medical and Healthcare Education. A Pilot Study.

Acta Biomed 2019 01 15;89(4):519-531. Epub 2019 Jan 15.

Sapienza University of Rome, Italy.

Background And Aim Of The Work: Bioethics is relevant in healthcare and medical schools. However, unlike other foreign countries, its teaching in Italy has only been recently introduced, it is less extensively offered and no academic standards for bioethics education have been established. This research aims at understanding whether university bioethics courses attendees appreciate and consider teaching strategies to be effective with the objective of validating a coherent didactic approach to the discipline and stimulate further discussion on ways to improve it.

Methods: A standardized survey was administered to 1590 students attending undergraduate degree programs in medicine and healthcare at four Italian universities.

Results: The majority of interviewees (92.5%) had an interest in bioethics, considered it to be important for any life-sciences-related program (73.5%) and most healthcare (77.2%) and medical students (69.2%) suggested its teaching should be included in their curricula and made mandatory (66.3%) and continuous (57.7%), given its usefulness in clinical practice. Students consider bioethics as a care-integrated practice and appreciate teaching methods where it is integrated into clinical cases. Conceptual specificity and interdisciplinarity may affect the learning process and contribute to enhance students' analytical skills.

Conclusions: Italian bioethics education should be revised to meet students' expectations and preferences. Its complex, multi-disciplinary and transversal nature suggests bioethical education to be flexible and integrated among different disciplines, thus stimulating a broader critical capacity through cases studies and other interactive teaching methods for helping students better deal with bioethics-inherent difficulties and improve the learning process.
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http://dx.doi.org/10.23750/abm.v89i4.7238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502089PMC
January 2019

When is myocarditis indeed the cause of death? Reply to R.B. Dettmeyer, J. Lang, and C.G. Birngruber.

Forensic Sci Int 2018 10 1;291:184. Epub 2018 Sep 1.

Department of Health Sciences (DISSAL) - Section of Legal and Forensic Medicine, University of Genova, Via de Toni 12, 16132, Genova, Italy.

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http://dx.doi.org/10.1016/j.forsciint.2018.08.039DOI Listing
October 2018

The Italian law on informed consent and advance directives: New rules of conduct for the autonomy of doctors and patients in end-of-life care.

J Crit Care 2018 12 29;48:178-182. Epub 2018 Aug 29.

Department of Medico-surgical Sciences and Biotechnologies, Sapienza University of Rome, 79 Corso della Repubblica, 04100 Latina, Italy. Electronic address:

Purpose: Italy has long lacked a law regulating patients' informed consent and advance directives (ADs). All previous attempts to introduce a law on this matter failed to reach positive outcomes, and aroused heated ideological debate over the exact meaning of life and death. We report on the new law on informed consent and ADs approved by the Italian Parliament on 14th December 2017.

Materials And Methods: We analyse the new law and discuss the main ethical points connected with it, in the Italian context and in comparison with the international situation.

Results: The law provides for fundamental ethical principles and important guidelines: respect for patients' self-determination in all phases of life, option to refuse or interrupt life-sustaining treatments, including artificial nutrition and hydration, the legitimacy of end-of-life decisions, and the implementation of palliative care to ease suffering and pain.

Conclusions: The effects of the new law must be tested in the field. Its objectives will be achieved if, in clinical practice, ADs are able to satisfactorily represent informed personal preferences through patients' relationships with their physicians, as part of personalized advance care planning. Future studies are necessary to assess the impact of the new law in Italy.
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http://dx.doi.org/10.1016/j.jcrc.2018.08.039DOI Listing
December 2018

The trial of the skull studied by the founder of Criminal Anthropology: The war of the Lombroso Museum.

J Forensic Leg Med 2018 Oct 25;59:13-15. Epub 2018 Jul 25.

Department of Biotechnology and Life Sciences, University of Insubria, Varese, Italy. Electronic address:

More than a century after the death of Cesare Lombroso, who still today is considered the founder of Criminal Anthropology, the debate on the atavisms theory seems far from over. The theories of Lombroso that, in the middle of the nineteenth century, have affected the course of investigations and criminal trials have once again been used to achieve success in the courtroom with the recent decision issued by the Italian Court on 16th May 2017. At the center of the judicial dispute is the legitimacy of detention of the skull of Giuseppe Villella exhibited at the "Cesare Lombroso" Museum of Criminal Anthropology in Turin. The ethical implications already involved in the materialist determinism of the Lombrosian thesis re-emerged today and intertwined with a plurality of historical, ideological, cultural, scientific and social issues that invest the relationship with our own history and with our cultural identity. The authors analyze the main ethical issues on the museum detention and on the treatment of human remains, pointing out the possible ways of reconciliation and mediation of the disputes on this matter.
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http://dx.doi.org/10.1016/j.jflm.2018.07.011DOI Listing
October 2018

A Survey on the Knowledge and Attitudes of Italian Medical Students toward Body Donation: Ethical and Scientific Considerations.

J Clin Med 2018 Jul 9;7(7). Epub 2018 Jul 9.

Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genoa, 16132 Genova, Italy.

Post mortem body donation (PMBD) for medical training and research plays a key role in medical-surgical education. The aim of this study is to evaluate Italian medical students’ awareness and attitudes regarding this practice. A questionnaire was sent to 1781 Italian medical students (MS). A total of 472 MS responded: 406 (92.91%) had a strongly positive attitude to PMBD, while 31 (7.09%) were not in favor. The majority of subjects were Catholic (56.36%), while 185 and 21 subjects, said that they did not hold any religious beliefs, or were of other religions, respectively. Multivariate analysis showed significant associations (-values < 0.05) between PMBD and religion, as well as perceptions of PMBD as an act of altruism, a tool for learning surgical practices, body mutilation, and an act contrary to faith. Although Italian MS believed cadaver dissection to be an important part of their education, they did not know much about it and had not received training on this altruistic choice. As future doctors, MS can play an important role in raising public awareness of the importance of PMBD for medical education and research. Specific educational programs to improve knowledge of this topic among MS are needed.
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http://dx.doi.org/10.3390/jcm7070168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6068798PMC
July 2018

The Italian Code of Medical Deontology. Historical, ethical and legal issues.

Acta Biomed 2018 06 15;89(2):157-164. Epub 2018 Jun 15.

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Background And Aim: Medical deontology is increasingly important, owing to the interests and rights which the medical profession involves. This paper focuses on the relationships of the Italian Code of Medical Deontology (CMD) with both the ethical and legal dimensions, in order to clarify the role of medical ethics within the medical profession, society and the overall system of the sources of law.

Methods: The authors analyze the CMD from an ethical perspective and through the new doctrinal guidelines and current trends in the Italian law courts.

Results: From an ethical point of view,  moral philosophical analysis scarcely seems to  address professional medical ethics. Nonetheless, the CMD needs to undergo careful ethical analysis. From a legal perspective, the Italian CMD contains provisions which do not have  an official legal nature. However, they are directly binding for medical practitioners, and therefore could be understood as a supplement to the general rules of the legal system.

Conclusions: At an ethical level, rigorous debate on the CMD is indispensable, in order to update its specific principles and to make it a real moral normative document. At a legislative level, there is a possible contradiction between a legal system that does not take into account the CMD, but which then attributes significant importance to the violation of its rules.
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http://dx.doi.org/10.23750/abm.v89i2.6674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6179026PMC
June 2018

Self-determination, healthcare treatment and minors in Italian clinical practice: ethical, psychological, juridical and medical-legal profiles.

Acta Biomed 2018 02 28;89(1):34-40. Epub 2018 Feb 28.

University of Genova, Italy.

Background And Aim: The social role of the minor, as indeed that of the physician, has changed markedly. This transformation has given rise to new patterns and responsibilities in the management of healthcare procedures that involve minors.

Discussion: According to international legislation, in the clinical setting, as in other areas of social life, minors have the right to be heard and to have their opinions taken into consideration as an increasingly determining factor, in accordance with their age and degree of maturity and discernment. The authors describe the right to information and the decision-making process when the patient is a minor and underline the role of the parties involved (physicians, parents, under-age patient, judge) in various circumstances. Specifically, the paper analyzes the ethical and legal issues relating to the entitlement to  decisions concerning the medical treatment of children and assesses the importance that Italian law attaches to the will of minors in the healthcare choices that affect them.

Conclusions: Healthcare workers  are called upon to face new challenges in order to ensure that healthcare services are able to safeguard the interests of minors while, at the same time, respecting their will. How to evaluate children's competence to consent and how to balance the autonomy of parents and minors are crucial questions which the law courts in the various countries are increasingly being asked to address. These issues require close collaboration among various figures (parents, doctors, psychologists, judges) and imply the ethical need to undergo continuous training.
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http://dx.doi.org/10.23750/abm.v89i1.6368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357619PMC
February 2018

When is myocarditis indeed the cause of death?

Forensic Sci Int 2018 Apr 7;285:72-76. Epub 2018 Feb 7.

Department of Interdisciplinary Medicine (DIM) - Section of Legal and Forensic Medicine, University of Bari, Italy.

Attribution of death to myocarditis continues to be a controversial issue in forensic pathology, despite the existence of established histopathological criteria as well as complementary investigations. The aim of the study was two-fold: (a) to retrospectively analyse the data obtained from a series of clinical and forensic autopsies in order to assess the number of cases with death attributed to myocarditis, and (b) to reevaluate these cases in order to assess how properly the histopathological diagnosis of myocarditis conformed to established criteria and therefore how accurately these were used on the basis of all postmortem investigation findings to conclude the cause of death. 2474 clinical and forensic autopsies were taken into consideration. Myocarditis was recorded as the official, underlying cause of death in 48 cases. Of those, 8 cases were considered to accurately conform to the histopathological Dallas criteria for the presence of myocarditis and could therefore be classified as cases of fatal myocarditis. In 19 out of 48 cases, description of focal myocarditis was considered to accurately fulfill the histopathological Dallas criteria for the presence of myocarditis. However, data provided by histological analysis and virology testing result reevaluation allowed alternative causes of death to be speculated. In another 21 out of 48 cases, description of focal myocardial inflammation was considered to inaccurately meet the histopathological Dallas criteria for the presence of myocarditis. The findings of our own study appear to be in agreement with previous observations in similar study groups and highlight that since myocarditis may occur in association with many diseases, a great deal of evidence is required before settling on categorical conclusions.
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http://dx.doi.org/10.1016/j.forsciint.2018.01.027DOI Listing
April 2018

Cardiac troponins and NT-proBNP in the forensic setting: Overview of sampling site, postmortem interval, cardiopulmonary resuscitation, and review of the literature.

Forensic Sci Int 2018 Jan 27;282:211-218. Epub 2017 Nov 27.

Laboratory of Clinical Chemistry, Lausanne University Hospital, Lausanne, Switzerland.

The possible use of biochemical markers in the postmortem diagnosis of myocardial ischemia is well known in the forensic setting, though several issues have limited its widespread adoption. The study presented herein focuses of N-terminal pro-B-type natriuretic peptide, troponin T, and troponin I, and the possible influence due to sampling site chosen, postmortem interval elapsed, and cardiopulmonary resuscitation attempts. Comparisons were performed between antemortem serum levels of these markers and postmortem levels measured in pericardial fluid and postmortem serum samples obtained from different sampling sites (n=16). Levels of these markers were also compared in cases characterized by various postmortem intervals (n=48, consisting of 24 ischemic heart disease cases and 24 controls) as well as in cases with and without cardiopulmonary resuscitation (n=22, consisting of 14 cases of hanging and 8 cases of drug intoxication). Our results indicate that N-terminal pro-B-type natriuretic peptide, troponin T, and troponin I values determined in postmortem serum from femoral blood (collected up to 24h after death) do not differ significantly from those measured in venous blood antemortem serum samples (collected at the upper limbs). In addition, our results reveal that the time elapsed after death should always be taken into consideration when cardiac troponins are measured in postmortem samples. Lastly, our findings reveal the absence of statistically significant differences between levels of the tested biomarkers (in postmortem serum from femoral blood) in cases without cardiopulmonary resuscitation compared to cases with cardiopulmonary resuscitation (at least for postmortem intervals up to 24h).
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http://dx.doi.org/10.1016/j.forsciint.2017.11.034DOI Listing
January 2018

Fatal poisoning by butane sniffing: A forensic analysis and immunohistochemical detection of myocardial hypoxic damage.

J Forensic Leg Med 2017 Oct 25;51:57-62. Epub 2017 Jul 25.

Department of Legal and Forensic Medicine, University of Genova, Via De Toni 12, 16132, Genova, Italy.

Although less widespread than twenty years ago, inhalant abuse remains an on-going problem, whose incidence among U.S. teenagers and young adults ranges from 10 to 15%. Death due to the inhalation of vapor from halogenated hydrocarbons is a well-known phenomenon, yet few cases of fatal butane-gas poisoning have been described. Many cases of volatile substance abuse in prison populations have been reported: drug-addicted inmates often resort to this alternative practice when unable to get their habitual drugs of abuse. A similar pattern occurs especially among adolescents. The study herein described was conducted including all cases of fatal acute intoxication of butane gas examined from 2007 to 2015 at the Institute of Legal Medicine and Forensic Sciences of the University of Genoa. In the absence of overt and specific macroscopic and histological findings indicating cause and pathological mechanism of death, we aimed to assess whether recent cardiac lesions were detectable by way of immunohistochemical (IHC) analysis. Specifically, fibronectin and troponin C expression in myocardial tissues were investigated in deaths from acute butane-gas poisoning so as to better define the underlying pathological mechanisms. IHC findings were indicative of hypoxic cardiac damage. In all cases, positivity to fibronectin and mildly to moderately reduced troponin C expression in cardiac muscle cells were immunohistochemically ascertained.
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http://dx.doi.org/10.1016/j.jflm.2017.07.019DOI Listing
October 2017

Fatal disseminated histoplasmosis presenting as FUO in an immunocompetent Italian host.

Leg Med (Tokyo) 2017 Mar 24;25:66-70. Epub 2017 Jan 24.

University of Genova, Department of Legal and Forensic Medicine, Via De Toni 12, Genova 16132, Italy. Electronic address:

Histoplasmosis is a relatively rare infectious disease endemic to certain geographic areas such as East Africa, eastern and central United States, western Mexico, Central and South America. Disseminated histoplasmosis has been reported mainly in immunocompromised hosts and in AIDS patients. In this paper we report on a fatal case of undiagnosed disseminated histoplasmosis presenting as fever of unknown origin (FUO) in a 43-year-old Italian woman who, although splenectomized 5years earlier due to a motor vehicle accident, was otherwise immunocompetent. This case report highlights the fact that, even in Europe, histoplasmosis is an emerging sporadic infection which needs be considered in the differential diagnosis of given clinical scenarios. The proposed case is of blatant forensic concern as it addresses the hypothesis of professional responsibility due to a missed diagnosis of histoplasmosis. A timely diagnosis, with appropriate therapies, could have prevented death. The role of the forensic pathologist is also crucial because the post-mortem diagnosis of histoplasmosis (never considered in the differential diagnosis during prior hospitalization) highlights the importance of a meticulous and thorough autopsy to elucidate the cause of death.
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http://dx.doi.org/10.1016/j.legalmed.2017.01.008DOI Listing
March 2017

Elder abuse in Europe's "most elderly" city: an assessment of the phenomenon and an analysis of the data from the Penal Court of Genoa from 2010 to 2015.

Aging Clin Exp Res 2017 Dec 6;29(6):1285-1290. Epub 2017 Mar 6.

DIMEL, Department of Legal Medicine, University of Genoa, Via De Toni 12, 16122, Genova, Italy.

Introduction: In Italy, 5% of the elderly are estimated to have suffered abuse. While the Penal Code refers to generic types of abuse, such as physical and psychological maltreatment, abandonment and financial fraud, it does not specifically protect the elderly as a category.

Aims: To assess the frequency and modalities of elder abuse in Genoa and its Province, and to compare these data with those reported in the literature, in order to provide a picture of the current situation that can be used by the authorities to combat this phenomenon.

Methods: We analysed the first-degree verdicts issued by the Court of Genoa regarding accusations of physical, psychological and moral abuse and maltreatment of elderly subjects (over 65 years) in the period 2010-2015.

Results: Only 85 of the 4028 court verdicts analysed involved elderly persons: 19 cases of domestic maltreatment, 3 of abuse of the means of correction or discipline, 18 of personal injury, 5 of abandonment and 40 of circumvention (deceiving someone, especially an elderly or mentally impaired person, to obtain a profit).

Discussion And Conclusions: A gap was observed between the number of crimes reported to the judicial authorities (tip of the iceberg) and the estimated prevalence of the phenomenon in the literature. There is a need both to create a network of protection for the elderly involving medical and judicial specialists and to train healthcare professionals to better recognise and report cases of maltreatment.
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http://dx.doi.org/10.1007/s40520-017-0738-3DOI Listing
December 2017

A Unusual Lightning Death in an Indoor Setting: A Case Report.

Am J Forensic Med Pathol 2017 Mar;38(1):1-4

From the Department of Legal and Forensic Medicine, University of Genova, Via de' Toni 12, 16132 Genova, Italy.

Death due to lightning strikes is infrequent, above all indoors. Some cases may take on a medical legal interest due to the unusual and uncommon circumstances in which they occur. The authors report an extremely rare case of electrocution occurred inside a house in a rural area. A 53-year-old man was reached by an electrical discharge originating from lightning while he was doing renovation work on a cottage. In this case, the correct interpretation of the autopsy and histological aspects and the attentive analysis of the circumstantial and environmental data led to the correct diagnosis of death and to the reconstruction of the dynamics with which it occurred. It was in fact possible to reconstruct that during a violent thunderstorm, lightning, discharging from the bottom upward formed an electric arc. The victim, who was close to metal objects (sawhorses), was struck on the left foot and the current exited from the right hand passing through the heart causing immediate death.
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http://dx.doi.org/10.1097/PAF.0000000000000273DOI Listing
March 2017

[Ethical aspects of medical thought on the madness in the enlightenment].

Acta Med Hist Adriat 2016 Aug;14(1):73-80

Dipartimento di Scienze della Salute, Università degli Studi di Genova, Genova, Italia.

The seventeenth century is a period of transition from religious views that are not authentic but dogmatic about demonic influences to the application of scientific and methodological criteria in science. During Enlightenment there was an approach heavily influenced by ethical issues. In this context, there is a rational recognition of the value of man free from the teleological type references. Mental illnesses are treated using scientific criteria. During the seventeenth century clinical interest is also extended to psychosis and not only to neurosis. There are several significant changes in the care of psychiatric patient, and healthcare institutions are improved and increased. Many behaviors are inspired by the values of philanthropy.
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August 2016

Fatal methadone intoxication in an infant listed as a homicide.

Int J Legal Med 2016 Sep 26;130(5):1231-5. Epub 2015 Oct 26.

University Centre of Legal Medicine, Lausanne, Switzerland.

Voluntary methadone administration for the purpose of sedation eventually resulting in the infant's death is extremely infrequent, though it has been observed. In this report, we describe an autopsy case pertaining to a 32-month-old infant who was repeatedly exposed to methadone by his parents. Autopsy revealed a coarctation of the aorta with a focal stenosis located at the junction of the distal aortic arch and the descending aorta. Left ventricular hypertrophy was also observed. Both these findings were considered to not have played a role in the child's death. Methadone was detected in the femoral blood (0.633 mg/l), urine (5.25 mg/l), bile (2.64 mg/l), and gastric contents (1.08 mg). A segmental hair analysis showed the presence of methadone and morphine in both the proximal and distal portion of the lock. Methadone was also detected in nail samples. A segmental hair analysis performed on the younger brother of the deceased revealed the presence of methadone and morphine in both the proximal and distal segments, as well as the presence of 6-monoacetylmorphine exclusively in the distal portion. Though the parents denied any involvement in methadone administration or exposure for the purpose of sedation, the manner of death was listed as homicide. The case emphasizes the usefulness of hair analysis to identify threatening situations for the children of drug-dependent parents and possibly support measures by the authorities to recognize and intervene in these potentially fatal situations.
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http://dx.doi.org/10.1007/s00414-015-1278-zDOI Listing
September 2016

A rare mutation in MYH7 gene occurs with overlapping phenotype.

Biochem Biophys Res Commun 2015 Feb 7;457(3):262-6. Epub 2015 Jan 7.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address:

Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific molecular pathobiological processes that cause these different phenotypes remains unexplained. We describe three members of a family with an autosomal dominant mutation in the distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] displaying a complex phenotype characterized by Laing Distal Myopathy like phenotype, left ventricular non compaction cardiomyopathy and Fiber Type Disproportion picture at muscle biopsy. We suggest that this overlapping presentation confirm the phenotypic variability of MYH7 myopathy and may be helpful to improve the genotype phenotype correlation.
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http://dx.doi.org/10.1016/j.bbrc.2014.12.098DOI Listing
February 2015

[ETHICS IN PSYCHIATRY: FROM ANTIQUITY TO THE RENAISSANCE].

Med Secoli 2015 ;27(1):287-306

Ethical issues always played an important role in the historical development in psychiatry. As wll known, many ancient cultures associated mental illness with gods and divine punishments. In the first centuries of the Christian Era, mental illness is often interpreted according to demonological views and in connection with theological conceptions of sin. The article briefly examines the history of mental illness medical and cultural interpretations, focusing on medieval medicine and the treatment of psychiatric patients from Antiquity to the Early modern Period.
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March 2016

Left ventricular diastolic dysfunction in type I Gaucher disease: an echo Doppler study.

Echocardiography 2015 Jun 24;32(6):890-5. Epub 2014 Sep 24.

Hypertension Research Center and Department of Medical Translational Sciences, Federico II University Hospital, Naples, Italy.

Type I Gaucher disease (GD1) is an autosomal recessive lysosomal storage disease characterized by multiorgan damage. Left ventricular (LV) involvement has been rarely reported. Accordingly, the aim of the study was to evaluate LV geometry and function in a series of patients with GD1. Eighteen patients with GD1, 18 age- and sex-matched normal controls, and 18 age- and sex-matched hypertensive patients (HTN) were compared by standard echo Doppler examination. LV mass index, relative wall thickness and ejection fraction, transmitral E/A ratio, E velocity deceleration time (DT), atrial filling fraction (AFF = time-velocity integral of A velocity/time-velocity integral of total diastole × 100), E/e' ratio, and left atrial volume index were determined. Nine GD1 patients also exhibited arterial hypertension. The intergroup difference of LV mass index and relative wall thickness was not significant. Transmitral E/A ratio was lower in HTN than in normal controls and GD1 (P < 0.05). GD1 exhibited longer DT than NC and HTN (P = 0.009). AFF was higher in GD1 and HTN compared to NC (P = 0.034). After adjustment for heart rate, GD1 was associated with longer DT (P < 0.001) and greater AFF (P = 0.036), while HTN was associated only with AFF (P = 0.013). No interaction was found between GD1 and HTN. In conclusion, GD1 is associated with subclinical LV diastolic dysfunction, which is independent of the coexistence of arterial hypertension. Subclinical LV impaired relaxation in the context of myocardial infiltrative damage could be the mechanism underlying these alterations.
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http://dx.doi.org/10.1111/echo.12759DOI Listing
June 2015

The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics.

Electrophoresis 2014 Nov 31;35(21-22):3134-44. Epub 2014 Oct 31.

Department of Medicine, Surgery and Health, University of Trieste, Trieste, Italy*

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 (r(2) = 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.
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http://dx.doi.org/10.1002/elps.201400141DOI Listing
November 2014

Early changes of myocardial deformation properties in patients with dystrophia myotonica type 1: a three-dimensional Speckle Tracking echocardiographic study.

Int J Cardiol 2014 Oct 1;176(3):1094-6. Epub 2014 Aug 1.

Hypertension Research Center, Department of Translational Medical Sciences, "Federico II" University Hospital, Naples, Italy.

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http://dx.doi.org/10.1016/j.ijcard.2014.07.121DOI Listing
October 2014

Fatal intrahepatic hemorrhage after nadroparin use for total hip arthroplasty.

Forensic Sci Med Pathol 2014 Dec 10;10(4):619-22. Epub 2014 Aug 10.

Department of Legal Medicine, University of Genova, Genova, Italy.

Low-molecular-weight heparins have become the predominant choice for deep venous thrombosis prophylaxis and treatment. However, their use may cause bleeding complications. Intrahepatic bleeding is exceptional and only very few cases have been described. The authors present a unique case of fatal intrahepatic hematoma complicating nadroparin use in a 65-year-old woman with a hepatic cyst who was admitted to hospital for unilateral total hip arthroplasty. At autopsy, hemoperitoneum (2,000 ml of blood and clots) was evident. A ruptured sub-capsular hematoma involving the right lobe of the liver was observed. The hemorrhage within the cyst induced by the nadroparin use was likely responsible for the subsequent hepatic hematoma, liver rupture, and death. This case highlights the need for pathologists and surgeons to be aware of the possibility of intrahepatic hematoma in patients who have received low-molecular-weight heparins, undergone major surgery and present postoperative hemodynamic instability, especially in those with preoperative diagnosis of hepatic cyst.
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http://dx.doi.org/10.1007/s12024-014-9593-0DOI Listing
December 2014

Health management and patients who lack capacity: forms of guardianship in European health policy.

Health Policy 2014 Feb 17;114(2-3):246-53. Epub 2013 Aug 17.

Department of Legal Medicine, University of Genova, Via de Toni 12, 16132 Genova, Italy. Electronic address:

The focus of healthcare debate has in recent years shifted from doctors and healthcare professionals in general to patients and the principle of patient self-determination. Patient competence therefore plays an increasingly central role in the legal framework of many Europeans countries. Consequently, healthcare policy has to address the possible repercussions of a non-systematic approach to cases of patient incapacity. The diverse nature of the experiences of the mentally or physically disadvantaged clearly raises problems for the healthcare professional. In this setting, we examine Italy's Law no. 6/2004 from a comparative perspective, in particular analysing legislation in the same area from Spain, France, Great Britain and the Netherlands.
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http://dx.doi.org/10.1016/j.healthpol.2013.07.017DOI Listing
February 2014

Short tandem repeat analysis of host's hepatocellular carcinoma by laser microdissection confirms the validity of safety procedures in liver transplantation: a forensic case.

Ann Transplant 2013 Aug 9;18:408-13. Epub 2013 Aug 9.

Department of Forensic and Legal Medicine, University of Genova, Genova, Italy.

Background: To limit the chimerism typical of transplanted organs, which constantly reveals mixed profiles, laser microdissection (LCM) has been hypothesized as a valid tool in comparison with manual dissection.

Case Report: A 42-year-old man with end-stage HBV/HDV liver cirrhosis and single hepatocellular carcinoma (HCC) underwent liver transplantation. Four months later hepatic nodules were diagnosed. The histological investigation showed an HCC. Despite therapy, the man died as a result of metastatic carcinoma 9 months later. On behalf of the public prosecutor, we performed short tandem repeat analysis on the hepatic nodules to determine whether the carcinoma had originated from the transplanted liver.

Conclusions: The manually dissected samples revealed a high degree of chimerism that did not allow a clear diagnosis. Instead, the detected chimerism was very low in the microdissected samples, where the tumor origin was clearly diagnosable as a recurrence of the recipient's primitive HCC. Accordingly, the application of LCM improved the quality of the results leading to an exclusion of medical liability profiles, confirming the high quality safety procedure of the Italian system in solid organ transplantation, and showing at the same time how useful this technique may be in selected forensic cases.
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http://dx.doi.org/10.12659/AOT.883995DOI Listing
August 2013

A fatal case of streptococcal and meningococcal meningitis in a 2-years-old child occurring as Waterhouse-Friderichsen Syndrome.

J Forensic Leg Med 2013 Aug 28;20(6):678-82. Epub 2013 Apr 28.

Department of Legal and Forensic Medicine, University of Genoa, S. Martino Hospital, Via De Toni 12, 16132 Genova, Italy.

We report a fatal case of streptococcal and meningococcal meningitis in a previously healthy 2-year-old child, a simultaneous co-infection of both pathogens that is poorly reported in the reviewed literature. The lack of a clinical diagnosis in addition to the medico-legal aspects arising from possible professional liability for the emergency service doctor who had failed to recognize the child's symptoms led to a forensic autopsy within 48 h after the death. After external and internal examination, Waterhouse-Friderichsen Syndrome (WFS) was suspected. Consequently, cerebrospinal fluid, whole blood, nasal and pharyngeal swab and pleural liquid samples were selected and collected for microbiological studies. All tested samples resulted Neisseria meningitidis DNA and Streptococcus pneumoniae DNA positive. The NM genotyping Real-Time PCR resulted positive for NM serotype C. Microscopic histological study confirmed these findings. We underline that when a patient presents fever and petechiae (50-60% of patients), WFS must be considered, even when the patient has a non-toxic appearance. Due to its rapid progression and often devastating consequences, therapy should be started as soon as WFS is suspected. Emphasis should also be placed on the importance of public education programs and on broadening protection against meningitis through new vaccines. In such cases, from a forensic point of view, there is a strong need for a robust, multidisciplinary approach in order to reach the correct post-mortem diagnosis.
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http://dx.doi.org/10.1016/j.jflm.2013.04.004DOI Listing
August 2013

Parallel improvement of left ventricular geometry and filling pressure after transcatheter aortic valve implantation in high risk aortic stenosis: comparison with major prosthetic surgery by standard echo Doppler evaluation.

Cardiovasc Ultrasound 2013 Jun 3;11:18. Epub 2013 Jun 3.

Division of Cardiology, San Carlo Hospital, Potenza, Italy.

Purpose: The effect of Transcatheter Aortic Valve Implantation (TAVI) on left ventricular (LV) geometry and function was compared to traditional aortic replacement (AVR) by major surgery.

Methods: 45 patients with aortic stenosis (AS) undergoing TAVI and 33 AVR were assessed by standard echo Doppler the day before and 2 months after the implantation. 2D echocardiograms were performed to measure left ventricular (LV) mass index (LVMi), relative wall thickness (RWT), ejection fraction (EF) and the ratio between transmitral E velocity and early diastolic velocity of mitral annulus (E/e' ratio). Valvular-arterial impedance (Zva) was also calculated.

Results: At baseline, the 2 groups were comparable for blood pressure, heart rate, body mass index mean transvalvular gradient and aortic valve area. TAVI patients were older (p<0.0001) and had greater LVMi (p<0.005) than AVR group. After 2 months, both the procedures induced a significant reduction of transvalvular gradient and Zva but the decrease of LVMi and RWT was significant greater after TAVI (both p<0.0001). E/e' ratio and EF were significantly improved after both the procedure but E/e' reduction was greater after TAVI (p<0.0001). TAVI exhibited greater percent reduction in mean transvalvular gradient (p<0.05), Zva (p<0.02), LVMi (p<0.0001), RWT (p<0.0001) and E/e' ratio (p<0.0001) than AVR patients. Reduction of E/e' ratio was positively related with reduction of RWT (r = 0.46, p<0.002) only in TAVI group, even after adjusting for age and percent reduction of Zva (r =0.43, p<0.005).

Conclusions: TAVI induces a greater improvement of estimated LV filling pressure in comparison with major prosthetic surgery, due to more pronounced recovery of LV geometry, independent on age and changes of hemodynamic load.
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http://dx.doi.org/10.1186/1476-7120-11-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679950PMC
June 2013

Sudden, unexpected death due to glioblastoma: report of three fatal cases and review of the literature.

Diagn Pathol 2013 May 2;8:73. Epub 2013 May 2.

Department of Forensic Pathology, University of Foggia, Ospedale C, D'Avanzo, viale degli Aviatori, 1, Foggia 71100, Italy.

Unlabelled: Sudden death from an undiagnosed primary intracranial neoplasm is an exceptionally rare event, with reported frequencies in the range of 0.02% to 2.1% in medico-legal autopsy series and only 12% of all cases of sudden, unexpected death due to primary intracranial tumors are due to glioblastomas. We present three cases of sudden, unexpected death due to glioblastoma, with different brain localization and expression. A complete methodological forensic approach by means of autopsy, histological and immunohistochemical examinations let us to conclude for an acute central dysregulation caused by glioblastoma and relative complication with rapid increase of intracranial pressure as cause of death. Although modern diagnostic imaging techniques have revolutionized the diagnosis of brain tumors, the autopsy and the careful gross examination and section of the fixed brain (with coronal section) is still the final word in determining exact location, topography, mass effects and histology and secondary damage of brain tumor and contributed the elucidation of the cause of death. Immunohistochemistry and proteomic analysis are mandatory in such cases.

Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1218574899466985.
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http://dx.doi.org/10.1186/1746-1596-8-73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652782PMC
May 2013