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1.
G Ital Cardiol (Rome) ; 23(3): 200-210, 2022 Mar.
Artículo en Italiano | MEDLINE | ID: mdl-35343501

RESUMEN

BACKGROUND: The multidisciplinary network of Emilia-Romagna for the study of juvenile sudden cardiac death (SCD) was started in Bologna in June 2018 in order to: (1) define the spectrum of etiologies and mechanisms of SCD in young people; (ii) standardize diagnostic terminology and categories; (iii) identify potentially hereditary genetic heart diseases and define the contribution of post-mortem genetic analysis (so-called molecular autopsy) to the overall diagnostic process; (iv) identify preclinical forms of the pathologies in the first-degree relatives of the deceased subject using both phenotypic and genotypic evaluation and, where possible, undertake therapeutic/prophylactic measures (primary prevention). METHODS: In the first 2 years of activity (01/06/2018-27/08/2020) 50 cases of SCD came to the attention of the Cardiovascular Pathology Unit of the S. Orsola-Malpighi Polyclinic in Bologna, from Centres of Forensic Medicine and Pathological Anatomy in most of the region. RESULTS: Sixty-two percent of cases were sent by forensic pathologists, 36% by clinical pathologists and 2% by the family of the deceased. Medico-legal cases were prompted by autopsies requested by the Judicial Authority in 70% of cases; 55.5% of patients referred by pathologists came from the Cardiovascular Tissue Bank, as part of the regional program for the quality and safety control of organs and tissues from multiorgan-multitissue donors. The average age of the subjects was 35 ± 13.6 years (70% male, range: 1-55 years; median: 38 years). The spectrum of the final diagnoses includes: structurally normal hearts 14%, cardiomyopathies 40%, coronary heart disease 23%, Brugada syndrome 6%, aortic dissection 4%, substance abuse 6%, valvular heart disease 2%, mixed causes 2%. CONCLUSIONS: The network is necessarily centered on post-mortem pathological activities, but it does not end with these. If in 60% of cases the pathological autopsy examination was decisive in identifying the cause of death, in the other cases a detailed final diagnosis was reached only with more complex pathways involving molecular genetics, clinical genetics, and toxicology.


Asunto(s)
Síndrome de Brugada , Cardiopatías , Adolescente , Adulto , Autopsia , Síndrome de Brugada/complicaciones , Niño , Preescolar , Muerte Súbita Cardíaca/etiología , Muerte Súbita Cardíaca/prevención & control , Femenino , Pruebas Genéticas , Cardiopatías/complicaciones , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto Joven
2.
Forensic Sci Int ; 317: 110548, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33129047

RESUMEN

Dinitrogen (N2) has been increasingly connected to suicidal deaths. The analysis of N2 in post-mortem cases still represents a major challenge in forensic toxicology and circumstantial data has so far played a major role for the determination of the cause of death. In this paper, after presenting a review of cases of N2 intoxication described in forensic literature, we report the application of two approaches in order to quantify an excess of N2 in post-mortem whole blood collected from a case of suicide by nitrogen inhalation. N2 analyses were performed by GC-MS on the suicidal case and on controls taken from 10 autopsy cases with similar PMI (5 traumatic deaths and 5 deaths by asphyxia). The percentage of N2 was estimated by building a five-point N2 peak area calibration curve (0, 15.6 %, 62.4 % 78.1 %, 100 %) and through an external QC, assessing linearity, accuracy and precision, LLOQ, specificity and stability of N2 in the sample vial. Percentage of N2 of the case was significantly higher than the post-mortem controls (p<0.05). The N2/O2 ratio of the case and controls was also calculated as an additional indicator, and was significantly higher in the case (p<0.05). The strengths and the limitation of both methods are reported in the paper. Toxicological confirmation for N2 are rarely performed when the cause of death is evident, probably due to the lack of validated methods and the complexity of the interpretation of N2 concentration in biological fluids. The presented methods can be rapidly and profitably applied with instrumentation normally available in forensic laboratories.


Asunto(s)
Nitrógeno/sangre , Nitrógeno/envenenamiento , Suicidio Completo , Administración por Inhalación , Adulto , Asfixia/etiología , Dióxido de Carbono/sangre , Estudios de Casos y Controles , Toxicología Forense/métodos , Cromatografía de Gases y Espectrometría de Masas , Humanos , Masculino , Oxígeno/sangre
3.
Leg Med (Tokyo) ; 32: 83-86, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29605790

RESUMEN

The primary Varicella Zoster Virus (VZV) infection results in varicella, a generally benign, self-limiting disease in immunocompetent children. Despite the usual course a possible fatal evolution of the primary infection is observed predominantly in immunocompromised subjects and in adults, especially emigrating from tropical regions. Two cases of fatal varicella have been investigated and discussed. Death occurred in two patients over 40 years of age, coming from South Asia and receiving chronic immunosuppressive therapy. The forensic expert must be cautious and consider all clinical records in managing fatal varicella cases, bearing in mind risk factors and pre-existing conditions such as age, geographical provenance and pathological comorbidity, which may lead to a bad prognosis irrespective of therapies. Based on the severe and fatal course observed in the reported cases, an extension of the immunization program appears advisable for immigrants from tropical countries, especially before scheduled immunotherapy.


Asunto(s)
Varicela , Muerte , Emigrantes e Inmigrantes , Herpesvirus Humano 3 , Clima Tropical , Adulto , Asia/etnología , Varicela/etnología , Varicela/patología , Femenino , Patologia Forense/métodos , Herpesvirus Humano 3/aislamiento & purificación , Humanos , Huésped Inmunocomprometido , Italia , Masculino
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