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Objectives. Hereditary transthyretin amyloidosis caused by the (ATTRv) p. Val142Ile variant is a common cause of cardiac amyloidosis among Western African countries and Afro-Americans populations. However, in recent years, Caucasian patients have been identified in greater numbers, raising the question of whether this variant has been undeappreciated in this population. We now have new cases of cardiac amyloidosis caused by the p.Val142Ile from a center in northern Portugal. In addition, we reviewed and discussed the published data concerning p.Val142Ile in Caucasians. Design. Patients diagnosed with cardiac amyloidosis underwent genetic testing using TTR gene sequencing and their relatives were recommended for genetic counsellingand testing if a pathogenic TTR variant was found. In our center, we reviewed the clinical data of patients who had the p.Val142Ile variant. A review of published cases of p.Val142Ile in Caucasians was also performed, to which our data was compared. Results. We found three ATTRv patients with the p.Val142Ile variant (one homozygotic), all Caucasian males with a median age at diagnosis of 69 years old. All of them had heart failure and arrhythmias. During the follow-up period, two patients died. There were 47 unrelated unrelated Caucasian cases of ATTRv p.Val142Ile variant reported worldwide until May 2022. Conclusions . Our findings add to the mounting evidence that the global prevalence of p.Val142Ile is likely understated. This highlights the importance of the systematic screening of the TTR gene in amyloidosis and phenocopies, as well as larger epidemiologic studies to determine the true ATTRv p.Val142Ile prevalence in non-African communities.

Introduction and Objectives: Heart failure (HF) has significant morbidity and mortality, and its prevalence will continue to increase in the future. This unfavorable evolution requires reflection as well as recommendations and decisions based on expert critical and strategic appraisal., Methods: In the Acceleration on Heart Failure Empowerment and Awareness - the Portuguese Challenge (ATHENA-PT) study, a range of strategic factors that represent the strengths, weaknesses, threats, and opportunities (SWOT) of HF in Portugal were established. These factors were assessed quantitatively by experts, to create a final SWOT matrix for the management and prevention of HF in Portugal and to outline recommendations., Results: For HF management, the panel emphasized the following strategic recommendations: (i) reimbursement of natriuretic peptides testing in primary healthcare; (ii) reimbursement of Doppler assessment in echocardiographic studies and promotion of detailed information in reports; (iii) intervention to improve the prognosis of patients with HF with preserved ejection fraction; (iv) ensuring effective healthcare transition between hospital and ambulatory units, using checklists/protocols; and (v) reinforcement and commitment to the training of primary health physicians and to the cardiac rehabilitation of patients. For the prevention of HF, the following recommendations/proposals were proposed: (i) campaigns to raise awareness of cardiovascular disease risk factors; (ii) promotion of physical exercise and healthy eating; and (iii) avoidance of therapeutic inertia in the management of risk factors., Conclusions: The acknowledgment of various strategic factors and their prioritization by experts made it possible to create and reinforce a range of new strategic recommendations for the management and prevention of HF., (Copyright © 2023 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.)

Introduction: In patients with cryptogenic stroke, one of the most frequently found abnormalities is patent foramen ovale (PFO). Percutaneous 'deviceless' systems based on surgical suture-mediated PFO closure have recently been introduced and show a favorable efficacy and safety profile with clear advantages., Objectives: To present procedural details of the technique and baseline characteristics of patients who underwent the procedure in our center., Methods: A single-center prospective observational registry was established between February 2020 and February 2021, to assess the safety, efficacy and possible advantages of a novel percutaneous PFO closure system (NobleStitch® EL). Patient and PFO characteristics as well as technical features were collected for analysis., Results: Twenty-three patients were considered suitable for this technique after transesophageal echocardiography. Their mean age was 51 years and 69.5% were women. Most patients (91.3%) had a history of cryptogenic stroke. PFO closure with the NobleStitch® system was successfully performed in all patients. All procedures were performed under local anesthesia and fluoroscopic monitoring. The mean duration of the procedure was 52 min and median contrast dose used was 187 ml. Median radiation dose absorbed per patient was 61.5 Gy cm 2 . All patients were discharged asymptomatic 24 hours after the procedure with no peri- or postprocedural complications recorded., Conclusion: Suture-mediated PFO closure represents a valid and safe alternative to traditional umbrella-like devices, and is feasible in the majority of PFO anatomies. Follow-up information, results of larger series and clinical trials may possibly validate this technique as the first choice for PFO closure., (Copyright © 2022 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.)

Dissemination of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in healthcare institutions affects both patients and health-care workers (HCW), as well as the institutional capacity to provide essential health services. Here, we investigated an outbreak of SARS-CoV-2 in a "non-COVID-19" hospital ward unveiled by massive testing, which challenged the reconstruction of transmission chains. The contacts network during the 15-day period before the screening was investigated, and positive SARS-CoV-2 RNA samples were subjected to virus genome sequencing. Of the 245 tested individuals, 48 (21 patients and 27 HCWs) tested positive for SARS-CoV-2. HCWs were mostly asymptomatic, but the mortality among patients reached 57.1% (12/21). Phylogenetic reconstruction revealed that all cases were part of the same transmission chain. By combining contact tracing and genomic data, including analysis of emerging minor variants, we unveiled a scenario of silent SARS-CoV-2 dissemination, mostly driven by the close contact within the HCWs group and between HCWs and patients. This investigation triggered enhanced prevention and control measures, leading to more timely detection and containment of novel outbreaks. This study shows the benefit of combining genomic and epidemiological data for disclosing complex nosocomial outbreaks, and provides valuable data to prevent transmission of COVID-19 in healthcare facilities.

Introduction: The aim of this study was to document clinical practice in Portugal regarding the use of electronic cardiac devices in patients with heart failure (HF) and reduced left ventricular ejection fraction (LVEF)., Methods: The Síncrone study was an observational prospective multicenter registry conducted in 16 centers in Portugal between 2006 and 2014. It included adult patients with a diagnosis of HF, LVEF <35% and indication for implantable cardioverter-defibrillator (ICD) and/or cardiac resynchronization therapy (CRT) devices, according to the recommendations of the European Society of Cardiology at the beginning of the study. Patients were followed for one year according to the practice of each center., Results: A total of 486 patients were included in the registry, half of whom received an ICD and the other half a CRT pacemaker (CRT-P) or CRT defibrillator (CRT-D). Mean age was 65±12 years and the most frequent causes of HF were ischemic (47%) and idiopathic dilated cardiomyopathy (28%). Overall mortality at one year was 3.6% and the hospitalization rate was 11%, significantly higher in patients with CRT-P/CRT-D than with ICD (17% vs. 5.6%, p<0.001). Patients who received CRT-P/CRT-D experienced significant reductions in QRS duration (160±21 vs. 141±24 ms, p<0.001) as well as improvement in New York Heart Association functional class., Conclusion: The Síncrone study shows that the use of implantable devices in HF with reduced LVEF in Portugal is in accordance with international recommendations and that patients presented functional improvement and reduced one-year mortality., (Copyright © 2019. Publicado por Elsevier España, S.L.U.)

The high prevalence of polypharmacy and potentially inappropriate medications in the elderly makes them a vulnerable group to adverse drug events. Deprescribing is the medication review plus cessation of potentially inappropriate medications with a health professional's help. Several barriers and enablers influence it, and its knowledge can help health professionals. The objective of the study is to understand the Portuguese elderly's attitudes and ideas about polypharmacy and deprescription. We made a qualitative approach through a focus group with elderly patients from an adult daycare center with transcription and codification into themes and subthemes based on previous frameworks. Eleven elderly patients participated in the focus group. The identified elderly's ideas and attitudes could be clustered into five main barriers: appropriateness, process, influences, fear, and habit, and five main enablers: appropriateness, process, influences, dislike, and cost. Although the elderly's strong beliefs regarding medication benefits and necessity prevail, contrary opinions regarding lack of benefit/necessity, drug interaction/side effects, and medication complexity/number may influence their willingness to deprescribe positively. The health professional's influence and the patient's trust in their doctors were perceived essential for decision-making as either a barrier or an enabler. The medication benefit was a big barrier, and side effects/drug interaction experiences are an important enabler. [ABSTRACT FROM AUTHOR]

Simple Summary: The pattern of Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) mutations in Hereditary Breast Ovarian Cancer (HBOC) families varies widely among different populations. About 30% of Portuguese HBOC can be associated with inherited cancer caused by BRCA1 or BRCA2 mutations. Three variants were identified (c.156_157insAlu in the BRCA2 gene and c.3331_3334del and c.2037delinsCC in the BRCA1 gene), accounting for about 50% of all Portuguese pathogenic mutations. Characterising the mutational spectrum in specific populations allows for a more efficient and cost-saving screening approach. Germline pathogenic variants in the Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) are responsible for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Genetic susceptibility to breast cancer accounts for 5–10% of all cases, phenotypically presenting with characteristics such as an autosomal dominant inheritance pattern, earlier age of onset, bilateral tumours, male breast cancer, and ovarian tumours, among others. BRCA2 pathogenic variant is usually associated with other cancers such as melanoma, prostate, and pancreatic cancers. Many rearrangements of different mutations were found in both genes, with some ethnic groups having higher frequencies of specific mutations due to founder effects. Despite the heterogeneity of germline BRCA1/BRCA2 mutations in Portuguese breast or/and ovarian cancer families, the first described founder mutation in the BRCA2 gene (c.156_157insAlu) and two other variants in the BRCA1 gene (c.3331_3334del and c.2037delinsCC) contribute to about 50% of all pathogenic mutations. Furthermore, the families with the BRCA1 c.3331_3334del or the c.2037delinsCC mutations share a common haplotype, suggesting that these may also be founder mutations in the Portuguese population. Identifying specific and recurrent/founder mutations plays an important role in increasing the efficiency of genetic testing since it allows the use of more specific, cheaper and faster strategies to screen HBOC families. Therefore, this review aims to describe the mutational rearrangements of founder mutations and evaluate their impact on the genetic testing criteria for HBOC families of Portuguese ancestry. [ABSTRACT FROM AUTHOR]

In this article I analyze the emergence of the field of physical anthropology in the metropolitan academic sphere of the Portuguese Empire during the late nineteenth century. I suggest that Portugal's relatively peripheral position combined with a complex internal conjuncture of political instability and economic impotence gave early Portuguese physical anthropology a less explicitly "colonial" orientation than in other, more central Western European imperial powers. I describe the various national and international exchanges leading to the birth of this naturalist anthropological tradition at the University of Coimbra, drawing particular attention to the foundational role played by the technological assemblage of large osteological collections aimed at the study of the somatic characteristics of the metropolitan "white" population. I situate these technical developments in the context of wider sociocultural and politico-economic processes of both "nation building" and "empire building." These processes had a strong effect on the kinds of questions asked and the kinds of answers that seemed compelling and acceptable to early physical anthropologists. [ABSTRACT FROM AUTHOR]

A comprehensive methodology to assess forest fire susceptibility, that uses variables of strong spatial correlation, is presented and applied for the Portuguese mainland. Our study is based on a thirty-year chronological series of burnt areas. The first twenty years (1975-1994) are used for statistical modelling, and the last ten (1995-2004) are used for the independent validation of results. The wildfire affected areas are crossed with a set of independent layers that are assumed to be relevant wildfire conditioning factors: elevation, slope, land cover, rainfall and temperature. Moreover, the wildfire recurring pattern is also considered, as a proxy variable expressing the influence of human action in wildfire occurrence. A sensitivity analysis is performed to evaluate the weight of each individual theme within the susceptibility model. Validation of the wildfire susceptibility models is made through the computation of success rate and prediction rate curves. The results show that it is possible to have a good compromise between the number of variables within the model and the model predictive power. Additionally, it is shown that integration of climatic variables does not produce any relevant increase in the prediction capacity of wildfire susceptibility models. Finally, the prediction rate curves produced by the independent cross validation are used to assess the probabilistic wildfire hazard at a scenario basis, for the complete mainland Portuguese territory. [ABSTRACT FROM AUTHOR]