ABSTRACT
Introducción la muerte súbita inexplicada en la epilepsia (MSIEP) es una causa importante de mortalidad en los pacientes epilépticos jóvenes; sin embargo, su existencia es poco conocida en el ámbito forense. El objetivo del trabajo es analizar la frecuencia y características clínico-patológicas de la MSIEP en los epilépticos menores de 35 años. Métodos estudio observacional de todas MSIEP ocurridas en personas de 1-35 años en Bizkaia (periodo 1991-2021) y Sevilla (2004-2021) investigadas en los servicios de patología forense (SPF). Además, se examinaron las muertes por epilepsia de los registros de mortalidad. Resultados se registraron 101 muertes por epilepsia en los registros de mortalidad y 46 MSIEP en los SPF, representando el 6% de las muertes súbitas en esta edad. Se registró una alta frecuencia de casos de epilepsia postraumática (n = 5), o con anomalías cerebrales (n = 5) o asociadas a trastornos del desarrollo (n = 4) o retraso mental (n = 3). El estudio toxicológico fue positivo en el 75%, destacando la presencia de fármacos antiepilépticos (n = 26). Se detectaron drogas ilegales en 5 jóvenes, principalmente cocaína (n = 3). La muerte fue no presenciada en la mayoría de los sujetos (85%) y sucedió por la noche (n = 63%) durante el sueño. Conclusiones la MSIEP en los niños y los jóvenes es infrecuente, pero constituye una causa importante de mortalidad en los epilépticos. Aunque los mecanismos de la MSIEP no son bien conocidos, se recomienda reforzar el control médico de la epilepsia en la juventud, principalmente en los pacientes con epilepsia postraumática o posquirúrgica o en aquellos con trastornos del desarrollo o retraso mental asociados. (AU)
Introduction Sudden unexpected death in epilepsy (SUDEP) is a major cause of mortality in young epileptic patients. The objective of the work is to analyze its frequency and clinical-pathological characteristics as a cause of sudden death in epileptics under 35 years of age. Methods Retrospective population study of all SUDEP in people aged 135 years in Bizkaia (period 19912021) and Seville (20042021) investigated in the Forensic Pathology Services (FPS). In each case, a complete autopsy was carried out with histopathological and toxicological studies, and review of clinical and circumstantial data. Data from the Mortality Registry for deaths by epilepsy were examined. Results 101 deaths due to epilepsy were registered in the Mortality Registries and 46 SUDEP cases in the FPS, representing 6% of forensic sudden deaths in this age population. A high frequency of post-traumatic epilepsy cases (n = 5), brain abnormalities (n = 5) or epilepsy associated to developmental disorders (n = 4) or mental retardation (n = 3) was observed. The toxicological analysis was positive in 75%, highlighting the presence of antiepileptic drugs (n = 26). Illegal drugs were detected in 5 young people, mainly cocaine (n = 3). Death was unwitnessed in most subjects (85%) and occurred at night (n = 63%) while sleeping. Conclusions SUDEP in children and young people is infrequent, however it is an important cause of mortality in epileptics. Although the mechanisms are not well understood, it is recommended to strengthen the medical control of epilepsy in youth, mainly in patients with post-traumatic or post-surgical epilepsy or in those who have associated developmental disorders or mental retardation. (AU)
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Young Adult , /epidemiology , Sudden Infant Death , Forensic Pathology , Epilepsy/mortality , Spain/epidemiologyABSTRACT
BACKGROUND: Knowledge of toxicological findings among sports-related sudden cardiac death (SrSCD) is scarce. OBJECTIVES: This study aimed to describe postmortem toxicology findings in a multinational cohort of young SrSCD. METHODS: Patients with sudden cardiac death (SCD) aged 12 to 49 years with a complete post mortem were included from Denmark, Spain, and Australia. Postmortem findings were compared between SrSCD and non-SrSCD, and toxicology findings in SrSCD were assessed. RESULTS: We included 3,189 SCD, of which 219 (7%) were sports-related. SrSCD patients were younger (36 years vs 41 years; P < 0.001) and of male predominance (96% vs 75%; P < 0.001), and their death was more often caused by structural cardiac disease (68% vs 61%; P = 0.038). Positive toxicology screenings were significantly less likely among SrSCD than non-SrSCD (12% vs 43%; P < 0.001), corresponding to 82% lower odds of a positive toxicology screening in SrSCD. Patient characteristics were similar between SrSCDs with positive and negative toxicology screenings, but deaths were more often unexplained (59% vs 34%). Nonopioid analgesics were the most common finding (3%), and SCD-associated drugs were detected in 6% of SrSCD. SUD was more prevalent among the SrSCD with positive toxicology (59% vs 34%). CONCLUSIONS: Sports-related SCD mainly occurred in younger men with structural heart disease. They had a significantly lower prevalence of a positive toxicology screening compared with non-SrSCD, and detection of SCD-associated drugs was rare.
Subject(s)
Heart Diseases , Sports , Humans , Male , Female , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Heart Diseases/complications , AutopsyABSTRACT
Cardiomyopathies (CMP) comprise a heterogenous group of diseases affecting primarily the myocardium, either genetic and/or acquired in origin. While many classification systems have been proposed in the clinical setting, there is no internationally agreed pathological consensus concerning the diagnostic approach to inherited CMP at autopsy. A document on autopsy diagnosis of CMP is needed because the complexity of the pathologic backgrounds requires proper insight and expertise. In cases presenting with cardiac hypertrophy and/or dilatation/scarring with normal coronary arteries, a suspicion of inherited CMP must be considered, and a histological examination is essential. Establishing the actual cause of the disease may require a number of tissue-based and/or fluid-based investigations, be it histological, ultrastructural, or molecular. A history of illicit drug use must be looked for. Sudden death is frequently the first manifestation of disease in case of CMP, especially in the young. Also, during routine clinical or forensic autopsies, a suspicion of CMP may arise based on clinical data or pathological findings at autopsy. It is thus a challenge to make a diagnosis of a CMP at autopsy. The pathology report should provide the relevant data and a cardiac diagnosis which can help the family in furthering investigations, including genetic testing in case of genetic forms of CMP. With the explosion in molecular testing and the concept of the molecular autopsy, the pathologist should use strict criteria in the diagnosis of CMP, and helpful for clinical geneticists and cardiologists who advise the family as to the possibility of a genetic disease.
Subject(s)
Cardiomyopathies , Pathologists , Humans , Autopsy , Myocardium/pathology , Genetic Testing , Cardiomyopathies/diagnosis , Cardiomyopathies/genetics , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/pathologyABSTRACT
Justificación: La muerte súbita constituye un problema de salud pública a nivel global. Su presentación súbita e inesperada tiene implicaciones médico-legales por lo que su abordaje diagnóstico en el ámbito forense es de gran importancia.Objetivo: Analizar la muerte súbita y su abordaje diagnóstico en la Dirección de Medicina Forense de Honduras. Metodología: Estudio descriptivo, retrospectivo de autopsias por muerte súbita en población de 10 a 55 años, realizadas en la sede de Tegucigalpa durante un período de cinco años (2015-2019). Los cálculos estadísticos fueron realizados con el programa R. Resultados: Se analizaron 165 casos de muerte súbita, 56% fueron de origen no cardiovascular y 44% de origen cardiovascular, 67% varones, con una media de edad de 39 años, DS+/-9,75. Las causas más frecuentes de muerte súbita no cardiovascular fueron digestivas (36%), respiratorias (34%), eventos cerebrovasculares hemorrágicos (14%) y muerte súbita en epilepsia (9%). Entre las muertes súbitas cardiovasculares las causas más frecuentes fueron la enfermedad coronaria aterosclerótica (67%), miocarditis (12%) y la muerte arrítmica con corazón estructuralmente normal (10%). Desde el punto de vista toxicológico destaca en ambas la asociación con el consumo de etanol (19%). Conclusiones: La muerte súbita de origen no cardiovascular fue la más frecuente, resultado condicionado por las limitantes del estudio. El abordaje actual de los casos de muerte súbita presenta importantes limitaciones por lo que se recomienda fortalecerlo implementando mejoras en la investigación medicolegal de la escena de la muerte, de los antecedentes familiares y el uso adecuado de los estudios complementarios toxicológicos e histopatológicos...(AU)
Subject(s)
Humans , Male , Coroners and Medical Examiners , Death, Sudden , Autopsy , Death, Sudden, CardiacABSTRACT
El papel de la medicina forense en la investigación de la muerte súbita es crucial, ya que desde el punto de vista jurídico, como en su forma de presentación, así como el desconocimiento de la existencia de una patología natural o, en su caso, la falta de testigos, hacen que se trate de una muerte "sospechosa". De ahí que sea el patólogo forense el responsable de determinar su causa precisa. La autopsia puede representar en estos casos la primera y última oportunidad para hacer el diagnóstico correcto de la causa de la muerte, lo cual es de suma relevancia, especialmente para los familiares. A pesar de la relevancia de su estudio, aun se necesita realizar mas investigación, para su mejor comprensión; especialmente la relacionado a la Muerte Súbita no cardiovascular...(AU)
Subject(s)
Humans , Autopsy , Death, Sudden , Medical Records , Forensic MedicineABSTRACT
Since cardiac hypertrophy may be considered a cause of death at autopsy, its assessment requires a uniform approach. Common terminology and methodology to measure the heart weight, size, and thickness as well as a systematic use of cut off values for normality by age, gender, and body weight and height are needed. For these reasons, recommendations have been written on behalf of the Association for European Cardiovascular Pathology. The diagnostic work up implies the search for pressure and volume overload conditions, compensatory hypertrophy, storage and infiltrative disorders, and cardiomyopathies. Although some gross morphologic features can point to a specific diagnosis, systematic histologic analysis, followed by possible immunostaining and transmission electron microscopy, is essential for a final diagnosis. If the autopsy is carried out in a general or forensic pathology service without expertise in cardiovascular pathology, the entire heart (or pictures) together with mapped histologic slides should be sent for a second opinion to a pathologist with such an expertise. Indication for postmortem genetic testing should be integrated into the multidisciplinary management of sudden cardiac death.
Subject(s)
Cardiomegaly/pathology , Myocardium/pathology , Autopsy , Cardiomegaly/genetics , Cardiomegaly/mortality , Cardiomegaly/physiopathology , Cause of Death , Genetic Testing , Humans , Organ Size , Predictive Value of Tests , Risk Factors , Terminology as TopicABSTRACT
Introducción y objetivos Conocer la incidencia, características clínico-patológicas, hábitos tóxicos y actividad deportiva relacionadas con la muerte súbita en la actividad deportiva en España.MétodosEstudio poblacional retrospectivo y multicéntrico, basado en autopsias forenses realizadas en 25 provincias durante 8 años (2010-2017).ResultadosSe investigaron 288 casos (el 98,6% varones; media de edad, 43,8±14,4 años). La incidencia fue de 0,38 casos/100.000 hab./año (0,82 entre deportistas habituales), la mayoría (54%) varones entre 35 y 54 años. Los deportes más frecuentes (el 96% recreativos) fueron ciclismo (28%), fútbol (18%) y carrera a pie (17%). La muerte fue de origen cardiovascular en el 99%: cardiopatía isquémica (63%), miocardiopatías (21%) y síndrome de muerte súbita arrítmica (6%). En los jóvenes, las miocardiopatías (38%) y la cardiopatía isquémica (30%), presente a partir de los 20 años, fueron las más prevalentes. La enfermedad se había diagnosticado en vida en 23 casos; se observaron antecedentes clínicos relevantes en 30 casos y factores de riesgo cardiovascular, principalmente obesidad, en 95. El análisis toxicológico detectó sustancias cardiotóxicas en el 7%, y destaca la relación entre cannabis y cardiopatía isquémica aguda.ConclusionesLa muerte súbita asociada a la actividad deportiva en España tiene una incidencia muy baja, afecta a varones de mediana edad que realizan deporte recreativo, principalmente ciclismo, fútbol y carrera, y es de origen cardiovascular, con aparición temprana de la cardiopatía isquémica. Los datos clínicos y los hábitos tóxicos deben tenerse en cuenta para desarrollar estrategias de prevención. (AU)
Introduction and objectives To determine the incidence of sports-related sudden cardiac death in Spain, and to identify the clinical-pathological characteristics, substance abuse, and sports activity associated with this entity.MethodsRetrospective, population-based, multicenter study of forensic autopsies conducted in 25 provinces during an 8-year period (2010-2017).ResultsWe investigated 288 cases (98.6% occurred in men with a mean age of 43.8±14.4 years). The incidence in the general population was 0.38 cases out of 100 000 inhabitants per year (0.82 among regular athletes), and most cases (54%) occurred in persons aged between 35 and 54 years. The most frequent sports (96% recreational) were cycling (28%), football (18%), and jogging (17%). Death was of cardiovascular origin in 99%. The main causes were ischemic heart disease (63%), cardiomyopathies (21%), and sudden arrhythmic death syndrome (6%). In young people, cardiomyopathies (38%) and ischemic heart disease (30%), present after the age of 20 years, were the most prevalent. The disease was diagnosed during life in 23 cases, relevant clinical antecedents were observed in 30 cases, and cardiovascular risk factors, mainly obesity, in 95 cases. Toxicological analysis detected cardiotoxic substances in 7%, highlighting the association between cannabis and acute ischemic heart disease.ConclusionsSports-related sudden cardiac death in Spain has a very low incidence and affects middle-aged men practicing recreational sports, mainly cycling, football, and jogging. This entity is of cardiovascular origin with early onset of ischemic heart disease. Clinical data and substance abuse should be taken into account to develop preventive strategies. (AU)
Subject(s)
Humans , Male , Female , Adult , Death, Sudden/epidemiology , Sports , Autopsy , Forensic Pathology , ToxicologyABSTRACT
INTRODUCTION AND OBJECTIVES: To determine the incidence of sports-related sudden cardiac death in Spain, and to identify the clinical-pathological characteristics, substance abuse, and sports activity associated with this entity. METHODS: Retrospective, population-based, multicenter study of forensic autopsies conducted in 25 provinces during an 8-year period (2010-2017). RESULTS: We investigated 288 cases (98.6% occurred in men with a mean age of 43.8±14.4 years). The incidence in the general population was 0.38 cases out of 100 000 inhabitants per year (0.82 among regular athletes), and most cases (54%) occurred in persons aged between 35 and 54 years. The most frequent sports (96% recreational) were cycling (28%), football (18%), and jogging (17%). Death was of cardiovascular origin in 99%. The main causes were ischemic heart disease (63%), cardiomyopathies (21%), and sudden arrhythmic death syndrome (6%). In young people, cardiomyopathies (38%) and ischemic heart disease (30%), present after the age of 20 years, were the most prevalent. The disease was diagnosed during life in 23 cases, relevant clinical antecedents were observed in 30 cases, and cardiovascular risk factors, mainly obesity, in 95 cases. Toxicological analysis detected cardiotoxic substances in 7%, highlighting the association between cannabis and acute ischemic heart disease. CONCLUSIONS: Sports-related sudden cardiac death in Spain has a very low incidence and affects middle-aged men practicing recreational sports, mainly cycling, football, and jogging. This entity is of cardiovascular origin with early onset of ischemic heart disease. Clinical data and substance abuse should be taken into account to develop preventive strategies.
Subject(s)
Death, Sudden, Cardiac , Sports , Adult , Autopsy , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Female , Humans , Incidence , Male , Middle Aged , Retrospective Studies , Spain/epidemiologyABSTRACT
Calcific aortic valve disease (CAVD) is a significant cause of illness and death worldwide. Identification of early predictive markers could help optimize patient management. RNA-sequencing was carried out on human fetal aortic valves at gestational weeks 9, 13, and 22 and on a case-control study with adult noncalcified and calcified bicuspid and tricuspid aortic valves. In dimension reduction and clustering analyses, diseased valves tended to cluster with fetal valves at week 9 rather than normal adult valves, suggesting that part of the disease program might be due to reiterated developmental processes. The analysis of groups of coregulated genes revealed predominant immune-metabolic signatures, including innate and adaptive immune responses involving lymphocyte T-cell metabolic adaptation. Cytokine and chemokine signaling, cell migration, and proliferation were all increased in CAVD, whereas oxidative phosphorylation and protein translation were decreased. Discrete immune-metabolic gene signatures were present at fetal stages and increased in adult controls, suggesting that these processes intensify throughout life and heighten in disease. Cellular stress response and neurodegeneration gene signatures were aberrantly expressed in CAVD, pointing to a mechanistic link between chronic inflammation and biological aging. Comparison of the valve RNA-sequencing data set with a case-control study of whole blood transcriptomes from asymptomatic individuals with early aortic valve calcification identified a highly predictive gene signature of CAVD and of moderate aortic valve calcification in overtly healthy individuals. These data deepen and broaden our understanding of the molecular basis of CAVD and identify a peripheral blood gene signature for the early detection of aortic valve calcification.
Subject(s)
Aortic Valve Stenosis/blood , Aortic Valve Stenosis/genetics , Aortic Valve/pathology , Calcinosis/blood , Calcinosis/genetics , Fetal Diseases/genetics , Transcriptome , Adult , Aortic Valve/embryology , Aortic Valve Stenosis/embryology , Aortic Valve Stenosis/epidemiology , Asymptomatic Diseases , Biomarkers/blood , Calcinosis/embryology , Calcinosis/epidemiology , Case-Control Studies , Cluster Analysis , Female , Gestational Age , Humans , Mitral Valve/embryology , Mitral Valve/pathology , Pregnancy , Prospective Studies , RNA-Seq , Spain/epidemiology , Tricuspid Valve/embryology , Tricuspid Valve/pathologyABSTRACT
This is a multicentre forensic study that identifies all sports-related sudden deaths (SRSDs) in young people, due to myocardial diseases (MDs) that occurred in a large area of Spain. The aim of the study is to assess the epidemiology, causes of death, and sport activities associated with these fatalities. This is a retrospective study based on forensic autopsies performed in the provinces of Biscay, Seville, Valencia and in the jurisdiction covered by the National Institute of Toxicology and Forensic Sciences in Madrid (Spain). The retrospective study encompasses from 2010 to 2017. All sudden cardiac deaths (SCDs) in persons 1-35 years old were selected. The total number of SCDs were divided into death occurred during exercise (SRSD) and death during rest, sleep or normal activities (non-SRSD). Each of these two groups was subdivided according to the cause of death into MD (primary cardiomyopathies and myocarditis) and non-MD. Clinic-pathological, toxicological and genetic characteristics of SRSD due to MD were analysed. Over the 8-year study period, we identified 645 cases of SCD in the young: 75 SRSD (11.6%) and 570 non-SRSD (88.4%). MD was diagnosed in 33 (44.0%) of the SRSD and in 112 (19.6%) of the non-SRSD cases. All cases of SRSD due to MD were males (mean age (24.0 ± 7.6) years) practicing recreational sports (85%). SRSDs were more frequent in arrhythmogenic cardiomyopathy (ACM) (37%) and hypertrophic cardiomyopathy (HCM) (24%), followed by myocarditis (15%) and idiopathic left ventricular hypertrophy (ILVH) (9%). Only in five cases of SRSD the MD responsible of death (HCM) had been diagnosed in life. Cardiovascular symptoms related to the disease were present in other seven patients (six of them with ACM). Postmortem genetic studies were performed in 15/28 (54%) primary cardiomyopathies with positive results in 12 (80%) cases. The most frequent sports disciplines were football (49%) followed by gymnastics (15%) and running (12%). In Spain, SRSD in young people due to MDs occurs in males who perform a recreational activity. Compared with control group we observed a strong association between MDs and exertion. One in three SRSDs are due to cardiomyopathy, especially ACM, which reinforces the need for preparticipation screening to detect these pathologies in recreational sport athletes. Further studies are warranted to understand the causes and circumstances of sudden death to facilitate the development of preventive strategies.
ABSTRACT
Anabolic androgenic steroids (AAS) have several adverse effects on the cardiovascular system that may lead to a sudden cardiac death (SCD). We herein report a case involving a 24-year-old male, AAS abuser with intramuscular delivery in the 6 months before, who suffered a cardiorespiratory arrest at home's bathtub when returning from New Year's party. A forensic autopsy was performed according to the guidelines of the Association for European Cardiovascular Pathology (AECVP). The body showed hypertrophy of skeletal musculature, with low amount of subcutaneous fat and no signs of injury (body mass index, BMI: 26.8 kg/m2). On internal examination, there were multiorgan congestion, acute pulmonary edema, and cardiomegaly (420 g) with severe coronary atherosclerosis and superimposed acute occlusive thrombosis at the left main trunk and left anterior descendant. Areas of scarring were located at the intersection between the posterior wall and the posterior third of the septum (postero-septal). At histology, acute myocardial infarction at the anterior third of the septum and the anterior wall, and subacute myocardial infarction at apical septum and apical posterior wall were detected. Other findings were small intramyocardial vessel disease and myocytes hypertrophy. Chemicotoxicological analysis in blood showed ethanol ((0.90 ± 0.05) g/L), stanazolol (11.31 µg/L), nandrolone (2.05 µg/L) and testosterone (<1.00 µg/L). When confronted with a sudden death in a young athlete we must pay attention to the physical phenotype that may suggest AAS abuse and perform a detailed examination of the heart. Chemicotoxicological analysis is a key to establish the relationship between SCD and AAS abuse.
ABSTRACT
El consumo de sustancias tóxicas constituye un factor de riesgo significativo para la muerte súbita cardiaca. Los tóxicos con mayor relevancia son las drogas ilegales (especialmente la cocaína), el alcohol y el tabaco, y en menor medida, las sustancias dopantes. Diversos medicamentos también incrementan el riesgo de muerte súbita cardiaca. En el presente artículo se hace una revisión sobre el mecanismo de acción y la patología inducida por estos tóxicos; se ofrece información epidemiológica, se destaca la trascendencia de una investigación forense protocolizada y se discuten las implicaciones de la patología forense en la prevención. La posibilidad de consumo de drogas de abuso debería ser tenida en cuenta en toda muerte súbita cardiaca de un adolescente, joven o adulto de edad mediana, principalmente en varones. En deportistas sería conveniente descartar el uso de sustancias dopantes; y en pacientes que toman psicofármacos valorar su influencia en el fallecimiento, aún con niveles terapéuticos (AU)
The use of toxic substances is a main risk factor for sudden cardiac death. The most relevant toxic substances are the illegal drugs (especially cocaine), ethanol, tobacco, and doping substances. Additionally, several therapeutic drugs are able to increase the risk for sudden cardiac death. The aim of the present paper is to review the mechanism of action and the main pathological problems induced by toxic substances. Moreover, we provide epidemiological information, underlie the importance of a standardised forensic investigation, and discuss the role of forensic pathology in the prevention of this phenomenon. The possibility of consumption of any drug of abuse should be considered in any case of sudden cardiac death in adolescents, young, or middle-age patients, especially in men. In athletes the use of doping substances should be ruled-out. In patients under psychopharmacological treatment, the putative influence of these drugs should be borne in mind (AU)
Subject(s)
Humans , Poisoning/epidemiology , Death, Sudden, Cardiac/etiology , Forensic Pathology/methods , Illicit Drugs/adverse effects , Substance-Related Disorders/epidemiology , Ethanol/toxicity , Smoking/adverse effects , Nicotiana/toxicity , Psychotropic Drugs/toxicity , Alcoholic Intoxication/epidemiologyABSTRACT
Amphetamine congeners can be prescribed as anorexiant drugs despite their potential adverse effects, including cardiac toxicity. However, the morphologic features of cardiac damage related to protracted use of these compounds are unknown. We provide a detailed description of cardiac autopsy findings in 3 cases of sudden death associated with protracted use of high doses of phendimetrazine and/or phenylpropanolamine or bupropion prescribed as anorexiants, in association with other compounds. The main cardiac findings were similar in all 3 cases: (1) mild-moderate hypertrophy of the left ventricle and/or the septum; (2) myocardial nonischemic scarring (midmural and/or subepicardial) appearing as discrete foci or with a bandlike morphology; (3) mild-moderate intramural small vessel disease in the absence of significant epicardial coronary artery stenosis; and (4) acute/recent inflammatory lesions consistent with toxic myocarditis. In summary, the detailed pathology examination of the heart in these 3 cases revealed myocardial lesions identical to those reported in catecholamine myocardial damage in all their various stages of evolution. In the presence of a clinical history of long-term intake of anorexiants of this category, it is most important at autopsy to recognize and correctly interpret the acute and chronic myocardial lesions of the type herein described because they represent an anatomical substrate for arrhythmic death.
Subject(s)
Appetite Stimulants/adverse effects , Bupropion/adverse effects , Death, Sudden, Cardiac/etiology , Morpholines/adverse effects , Myocardium/pathology , Phenylpropanolamine/adverse effects , Adult , Autopsy , Cardiotoxicity , Death, Sudden, Cardiac/pathology , Fatal Outcome , Female , Humans , MaleABSTRACT
Although sudden cardiac death (SCD) is one of the most important modes of death in Western countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed and the accurate diagnosis of the causes of SCD is now of particular importance. Pathologists are responsible for determining the precise cause and mechanism of sudden death but there is still considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology has developed these guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate investigation of SCD. The present version is an update of our original article, published 10 years ago. This is necessary because of our increased understanding of the genetics of cardiovascular diseases, the availability of new diagnostic methods, and the experience we have gained from the routine use of the original guidelines. The updated guidelines include a detailed protocol for the examination of the heart and recommendations for the selection of histological blocks and appropriate material for toxicology, microbiology, biochemistry, and molecular investigation. Our recommendations apply to university medical centers, regionals hospitals, and all healthcare professionals practicing pathology and forensic medicine. We believe that their adoption throughout Europe will improve the standards of autopsy practice, allow meaningful comparisons between different communities and regions, and permit the identification of emerging patterns of diseases causing SCD. Finally, we recommend the development of regional multidisciplinary networks of cardiologists, geneticists, and pathologists. Their role will be to facilitate the identification of index cases with a genetic basis, to screen appropriate family members, and ensure that appropriate preventive strategies are implemented.
Subject(s)
Autopsy/standards , Death, Sudden, Cardiac , Cause of Death , Europe , HumansABSTRACT
To confirm the nature and forensic significance of questioned skeletal material submitted a medico-legal setting is a relatively common procedure, although not without difficulties when the remains are fragmented or burned. Different methodologies have been described for this purpose, many of them invasive, time and money consuming or dependent on the availability of the analytical instrument. We present a case in which skeletal material with unusual conditions of preservation and curious discovery was sent to a medico-legal setting to determine its human/nonhuman origin. A combined strategy of imagenological procedures (macroscopic, radiographic and cone beam computed tomography - CBCT-technology) was performed as non-invasive and rapid methods to assess the nonhuman nature of the material, specifically of pig (Sus scrofa) origin. This hypothesis was later confirmed by DNA analysis. CBCT data sets provide accurate three-dimensional reconstructions, which demonstrate its reliable use as a forensic tool.
Subject(s)
Cone-Beam Computed Tomography , Maxilla/diagnostic imaging , Swine , Tooth/diagnostic imaging , Animals , DNA Fingerprinting , Forensic Sciences , Humans , Imaging, Three-Dimensional , Species Specificity , Swine/geneticsABSTRACT
Mitochondrial (mt) DNA depletion and oxidative mtDNA damage have been implicated in the process of pathological cardiac remodeling. Whether these features are present in the early phase of maladaptive cardiac remodeling, that is, during compensated cardiac hypertrophy, is still unknown. We compared the morphologic and molecular features of mt biogenesis and markers of oxidative stress in human heart from adult subjects with compensated hypertrophic cardiomyopathy and heart failure. We have shown that mtDNA depletion is a constant feature of both conditions. A quantitative loss of mtDNA content was associated with significant down-regulation of selected modulators of mt biogenesis and decreased expression of proteins involved in mtDNA maintenance. Interestingly, mtDNA depletion characterized also the end-stage phase of cardiomyopathies due to a primary mtDNA defect. Oxidative stress damage was detected only in failing myocardium.
Subject(s)
Heart Failure/pathology , Hypertrophy, Left Ventricular/pathology , Myocardial Ischemia/complications , Organelle Biogenesis , Oxidative Stress/physiology , Ventricular Remodeling/physiology , Adult , Aged , Blotting, Western , DNA, Mitochondrial/metabolism , Female , Heart Failure/etiology , Humans , Laser Capture Microdissection , Male , Microscopy, Electron, Transmission , Middle Aged , Real-Time Polymerase Chain ReactionABSTRACT
La Educación Basada en Competencias representa una estrategia de enseñanza-aprendizaje donde se busca que el estudiante logre un mejor desempeño en los entornos sociales cada vez más complejos a través del desarrollo de sus propias habilidades. Esto requiere que las instituciones educativas ofrezcan oportunidades curriculares que desplieguen Competencias Genéricas (CGs) transparentes y explícitas. Los desafíos contextuales de las ciencias forenses en general, y de la Odontología legal y forense en lo particular, han determinado una necesaria adaptación de sus contenidos conceptuales, procedimentales y actitudinales en la búsqueda de definición de sus campos específicos, desarrollo holístico de sus áreas de conocimiento, la adquisición de habilidades y experiencia, orientación hacia valores profesionales éticos, e integración de todos esos contenidos. Se presentan al Pensamiento Crítico y a la Responsabilidad Social como las CGs más idóneas para una educación focalizada en la Odontología legal y forense, como maneras de asumir el desafío de mejorar la calidad, consistencia y suficiencia de no sólo de futuros nuevos peritos sino también del profesional asistencial generalista, y se discute la trascendencia de formalizar estos aspectos según las realidades y paradigmas imperantes hoy en algunos países de habla hispana.
The competence-based training nowadays represents a strategy of teaching-learning, which supports the student to prepare him/her for better performance in the increasingly complex social environments through the development of their own skills. This model requires that educational institutions must offer curricular opportunities to develop explicit and transparent generic skills (GSs). The contextual challenges of forensic sciences in general, and of the legal and forensic dentistry in particular, have to determine a necessary adaptation of their conceptual, procedural and attitudinal contents to define their specific fields, holistic development of their areas of knowledge, the acquisition of skills and experience, orientation toward professional ethical values, and integration of all these contents. We present Critical Thinking and Social Responsibility as the more suitable GSs for a training focused on the legal and forensic dentistry. To take up the challenge to improve the quality, consistency and adequacy of not only of new future experts but also of the professional healthcare practitioner, and the significance of formalizing these aspects with the realities and prevailing paradigms today in some Spanish-speaking countries is discussed.
Subject(s)
Humans , Competency-Based Education , Forensic Dentistry/education , Social Responsibility , Teaching , Thinking , LearningABSTRACT
The anterior thoracic skeleton may exhibit a number of morphological variations or anomalies, including accessory ossicles, atypical fusion or nonfusion of bony segments, and accessory foramina. Awareness of these minor skeletal variants is important in forensic medicine given that they may be mistakenly identified as pathological or traumatic lesions. The identification of subtle morphological anomalies may also aid in the process of individualization by serving as points of similarity if their occurrence was recorded antemortem. This study assessed the prevalence of anatomical variants of the sternum and ribs in a modern population from Spain, since the frequency of these skeletal anomalies differs between population groups. The occurrence of sternal clefts and foramina, bifurcated ribs, fusion of the manubriosternal and sternoxiphoidal junctions, and type of xiphoid process end was evaluated on posterior-anterior digital radiographs. None of the morphological variations were associated with sex or age, with the exception of two traits related to the xiphoid process. The xiphoid process was absent more often in younger individuals, particularly specimens below the age of 30 years, whereas, complete fusion of the sternoxiphoidal junction was more often observed in individuals above 50 years of age. However, these morphological variants are highly variable in the study sample and thus they have limited utility in forensic age estimation in the Spanish population. Nonetheless, the presence of various morphological anomalies such as sternal foramina, bifid ribs, and triple-ended xiphoid processes may provide information useful for establishing a personal identification.
