Sudden death in young South European population: a cross-sectional study of postmortem cases.

To describe the annual incidence and the leading causes of sudden non-cardiac and cardiac death (SCD) in children and young adult Portuguese population. We retrospectively reviewed autopsy of sudden unexpected deaths reports from the Portuguese National Institute of Legal Medicine and Forensic Sciences' database, between 2012 and 2016, for the central region of Portugal, Azores and Madeira (ages 1-40: 26% of the total population). During a 5-year period, 159 SD were identified, corresponding to an annual incidence of 2,4 (95%confidence interval, 1,5-3,6) per 100.000 people-years. Victims had a mean age of 32 ± 7 years-old, and 72,3% were male. There were 70,4% cardiac, 16,4% respiratory and 7,5% neurologic causes of SD. The most frequent cardiac anatomopathological diagnosis was atherosclerotic coronary artery disease (CAD) (33,0%). There were 15,2% victims with left ventricular hypertrophy, with a diagnosis of hypertrophic cardiomyopathy only possible in 2,7%. The prevalence of cardiac pathological findings of uncertain significance was 30,4%. In conclusion, the annual incidence of SD was low. Atherosclerotic CAD was diagnosed in 33,0% victims, suggesting the need to intensify primary prevention measures in the young. The high prevalence of pathological findings of uncertain significance emphasizes the importance of molecular autopsy and screening of first-degree relatives.

Genetically determined cardiomyopathies at autopsy: the pivotal role of the pathologist in establishing the diagnosis and guiding family screening.

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.

Mortality due to respiratory infections: an alert study before COVID-19 pandemic.

Objective: Respiratory tract infections remain a common problem in clinical practice with high morbidity and mortality worldwide. In Portugal, pneumonia was the third leading death cause in 2018. Due to COVID-19 pandemic, there is a growing concern about the burden of respiratory diseases and preventable risk factors. The present study started before the pandemic and its aim was to determine the occurrence of pneumonia/bronchopneumonia in a postmortem series and to characterize its circumstantial context. Methods: A retrospective anatomopathological study was performed on cases with acute pneumonia/bronchopneumonia at the Medicolegal Portuguese Institute (2011-2017). Results: In an autopsy series of 737 patients, 521 were male and 675 presented comorbidities. The mean age was 63.87 ± 19.8 years. The most common acquisition site was community (65.1%), as natural death (65.5%). Concerning the manner of death, most cases (48.0%) were sudden deaths, followed by accidents (29.2%). A statistically significant association was observed between the medicolegal etiology and the place of infection acquisition, with higher prevalence of natural obitus (91.0%) in community-acquired pneumonia/bronchopneumonia versus higher prevalence of violent obitus in hospital-acquired pneumonia/bronchopneumonia (82.1%) (p < 0.001). Conclusions: Forensic anatomopathological postmortem data may contribute to better understand community and hospital pulmonary infections.

Voices from the past: results of the ESP history of pathology working group survey on pathology museums.

While keeping their original purpose of training medical students, pathology museums hold great biological value, offering unique specimens for scientific research through modern radiological, pathological and biomolecular techniques. Moreover, the artefacts, models and drawings displayed in these museums are a precious cultural and artistic heritage. Preservation of the anatomical samples and maintenance of the facilities are neither easy nor inexpensive and call for patronage. The development of a European Pathology Museum Network would undoubtedly facilitate study, access and divulgation of antique pathology collections. Data from a survey conducted by the European Society of Pathology (ESP) History of Pathology Working Group have allowed creation of a comprehensive, multifaceted portrait of European university museums, reflecting their history, diversity, geography, institutional status, stakeholders, projects, professionals, audiences, policies and best practices.

Wax hearts: seeking the antiquity of cardiac pathology.

Wax models of normal and diseased organs were formerly essential medical teaching tools. The ceroplastic heart models from two 19th century pathology museums at the Universities of Florence (n = 8) and Coimbra (n = 10) were analysed. The Florentine collection comprised congenital malformations as well as infectious and inflammatory disorders. The Coimbra waxworks included congenital defects, cardiac hypertrophy and dilation, valvular pathology and cardiac adiposity. This study focuses on heart diseases and teaching resources in European university hospitals during the 19th century. It also highlights the importance of wax models in medical education both then and today, in an era of informatics and digital photography.

Endomyocardial biopsy: a 21st century diagnostic tool.

The question of the utility of Endomyocardial Biopsy (EMB) often and recurrently raises. It is claimed that the image techniques provide identical results without the risks of an invasive procedure. It is a fact that the impressive technico-scientific development of cardiovascular imagological methodologies covers a broad spectrum of diagnosis. It is also a fact that endomyocardial biopsy is not completely risk-free. Yet, when performed by experienced professionals in reference centres, endomyocardial biopsies my disclose a final unexpected nosologic entity, confirm or exclude a proposed diagnosis and, even when not showing specific lesions in the examined samples, EMB may point to a multifocal involvement of the heart that eventually skipped the fragments collected [1, 2, 3].

[Neurodevelopmental Pediatrics in Portugal: Hospital Patient Volume, Resources and Needs - Changes After Ten Years]. / Pediatria do Neurodesenvolvimento em Portugal: Movimento Hospitalar Assistencial, Recursos e Necessidades ­ Evolução em Dez Anos.

INTRODUCTION: Neurodevelopmental disorders are, in modern societies, the most common chronic pediatric conditions. Many remain in adulthood. Organizing the national health care network to respond efficiently and effectively requires grounded knowledge of care needs. The Neurodevelopmental Pediatrics Society of the Portuguese Society of Pediatrics in order to know the current hospital care reality of Neurodevelopmental Pediatrics, carried out a national survey in 2007, repeating it ten years later. Material e Methods: In the 2016-2017 biennium, a survey of 45 hospital units was conducted on the patient volume of Neurodevelopmental clinics, the allocation of human resources, and the needs for professional reinforcement. RESULTS: We obtained a 100% response rate. The total number of Neurodevelopmental Pediatrics consultations rose from 38 238 (2007) to 99 815 (2017). The number of professionals has also increased: pediatricians increased from 82 to 156. A median of 101 children were awaiting first consultation, compared with 185 in 2007. DISCUSSION: In a decade, the patient volume almost tripled. The reinforcement of professionals, even though it was beneficial, did not increase accordingly; even so, the number of children on the waiting list for their first appointment has almost halved, reflecting the commitment of professionals. CONCLUSION: It is noteworthy that the overall improvement of the national response in the area of Neurodevelopmental Pediatrics is remarkable. However, the requested reinforcement of human resources from a multidisciplinary perspective should not be neglected in view of the continuous improvement in care delivery in an area of great chronicity and complexity.

Introdução: As perturbações do neurodesenvolvimento são, nas sociedades modernas, as patologias crónicas mais frequentes da idade pediátrica. Muitas permanecem na vida adulta. A organização da rede de cuidados de saúde nacional carece de conhecimento fundamentado das necessidades assistenciais para lhes responder de um modo eficaz, eficiente e efetivo. Com o objetivo de conhecer a realidade assistencial hospitalar atual da Pediatria do Neurodesenvolvimento, a Sociedade de Pediatria do Neurodesenvolvimento da Sociedade Portuguesa de Pediatria procedeu a um levantamento nacional em 2007, repetindo-o dez anos depois.Material e Métodos: No biénio 2016-2017 procedeu-se a um inquérito dirigido ao universo de 45 unidades hospitalares abrangendo o movimento assistencial das consultas de Pediatria do Neurodesenvolvimento, a alocação de recursos humanos, e as necessidades de reforço de profissionais.Resultados: Obteve-se 100% de respostas. O número total de consultas de Pediatria do Neurodesenvolvimento subiu de 38 238 (2007) para 99 815 (2017). O número de profissionais também aumentou: os pediatras passaram de 82 a 156. Uma mediana de 101 crianças aguardavam primeira consulta, contra 185 em 2007.Discussão: Numa década, o movimento assistencial quase triplicou. O reforço de profissionais, apesar de positivo, não teve o mesmo incremento; ainda assim, o número de crianças em lista de espera para primeira consulta reduziu-se quase para metade, o que reflete o comprometimento dos profissionais.Conclusão: É de salientar a melhoria global da resposta nacional na área da Pediatria do Neurodesenvolvimento. Contudo, o reforço dos recursos humanos numa perspectiva pluridisciplinar não deve ser negligenciado, tendo em vista a melhoria contínua da prestação de cuidados numa área de grande cronicidade e complexidade.

Lessons from an historical museum of anatomical pathology: thoraco-abdominopagus fetus.

Historical Museums of Anatomical Pathology are a relevant teaching tool for medical undergraduate students and postgraduate residents. The visualization of real specimens allow a deeper comprehension of diseases, namely of rare conditions as in Teratology. This article emphasizes the need to preserve and use Universities Museums, by presenting a XIXth Thoraco-Abdominopagus Fetus.

Cardiac tumors: three decades of experience from a tertiary center: are we changing diagnostic work-up with new imaging tools?

BACKGROUND: Primary cardiac tumours are relatively rare. Cardiac myxomas are the most prevalent and in a significant proportion of cases they are accidentally discovered in asymptomatic patients. Noninvasive definitive diagnosis remains challenging despite improvements provided by newer imaging tools. Our aim was to describe the long-term experience of a tertiary cardiac center managing cardiac tumours. METHODS: We analyzed 154 consecutive patients admitted to a single-tertiary center with the diagnosis of a cardiac mass or tumor between 1990 and 2018. Data files including clinical presentation, noninvasive investigations, presumptive diagnosis and histopathology were collected. The follow-up was obtained from clinical records or telephone contact. RESULTS: In 154 patients with a median age at diagnosis of 61 (51-71) years, 62% were females. Anatomopathology studywas obtained in 144 cases, from which 81% were benign tumours (106 myxomas; 11 papillary fibroelastomas). In comparison with malignant lesions, patients with benign tumours were older (62 versus 48 years) and more often women (65% versus 27%, P = .021). Incidental diagnosis of a benign tumor occurred in 36% of the cases. Transthoracic echocardiography was the initial technique for diagnostic suspicion in the great majority of patients. Both cardiac computed tomography and magnetic resonance were rarely performed before excision. Imaging based (mostly echocardiography) pre-operative presumptive diagnosis was discordant with histopathologic findings in 21% of the benign and in 55% of malignant lesions (previously considered as benign). Uncommon histologic findings were found in 18% of myxomas. During the follow-up period of 11 ± 12 years there were 12 recurrences. CONCLUSION: Among surgically excised cardiac tumours benign cardiac tumors are far more common than both primary and secondary malignancies. In this series of patients, there was a significant proportion of asymptomatic lesions. Preoperative misdiagnosis could be related to the scarce use of adjunctive noninvasive imaging tools beyond echocardiography. Preoperative noninvasive investigation should be expanded to improve diagnostic presumption and better plan the best therapeutic approach.

Autopsy in adults with congenital heart disease (ACHD).

The adult congenital heart diseases (ACHD) population is exceeding the pediatric congenital heart diseases (CHD) population and is progressively expanding each year, representing more than 90% of patients with CHD. Of these, about 75% have undergone surgical and/or percutaneous intervention for palliation or correction. Autopsy can be a very challenging procedure in ACHD patients. The approach and protocol to be used may vary depending on whether the pathologists are facing native disease without surgical or percutaneous interventions, but with various degrees of cardiac remodeling, or previously palliated or corrected CHD. Moreover, interventions for the same condition have evolved over the last decades, as has perioperative myocardial preservations and postoperative care, with different long-term sequelae depending on the era in which patients were operated on. Careful clinicopathological correlation is, thus, required to assist the pathologist in performing the autopsy and reaching a diagnosis regarding the cause of death. Due to the heterogeneity of the structural abnormalities, and the wide variety of surgical and interventional procedures, there are no standard methods for dissecting the heart at autopsy. In this paper, we describe the most common types of CHDs that a pathologist could encounter at autopsy, including the various types of surgical and percutaneous procedures and major pathological manifestations. We also propose a practical systematic approach to the autopsy of ACHD patients.

Fibroelastoma papilar aórtico sintomático: una lesión multifocal / Aortic valve wisp lesion: a symptomatic multifocal papillary fibroelastoma

No disponible

Sudden cardiac death and valvular pathology.

Sudden death due to valvular heart disease is reported to range from 1% to 5% in native valves and around 0.2%-0.9%/year in prosthesis. The nature of the diseases is varied, from heritable, congenital to acquired. It may affect both genders in multiple age groups. The authors show and comment examples of the major nosologic aetiologies underlying unexpected exitus letalis of valvular nature.