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Celem prezentowanego badania była ocena społecznego wpływu pandemii COVID-19 na pacjentów z przewlekłą chorobą nerek, populację szczególnie narażoną na liczne powikłania w przypadku zarażenia się wirusem SARS-CoV-2. Autorzy skupili się na analizie problemów społecznych, które pojawiły się i nasiliły w pierwszej fazie pandemii. W badaniu wzięło udział 117 pacjentów leczonych w CKD, skierowanych do otrzymania pomocy socjalnej. Zaobserwowano wzrost liczby osób kierowanych do otrzymania pomocy. Nowych zgłoszeń było 37,6%, a 62,4% z nich związane było z pogorszeniem społeczno-ekonomicznej sytuacji pacjenta – głównie deprywacją ekonomiczną lub brakiem dochodów, bezrobociem i izolacją społeczną. Złożoność interwencji socjalnej była wyższa wśród osób z nasilonymi problemami społecznymi. Wyniki otrzymanych badań mają nie tylko walor naukowy, lecz także praktyczny – pozwalają pracownikom socjalnym na planowanie pomocy skoncentrowanej na najistotniejszych problemach pojawiających się w kontekście wyzwań pandemicznych.

Aims Quadricuspid aortic valve (QAV) is a rare abnormality, which may cause aortic regurgitation (AR) requiring surgical intervention in some patients. The characteristics associated with aortic valve functional degeneration in patients with QAV are still unknown. The aim of this study is to describe QAV prevalence, characterize the disease by multimodality imaging, evaluate predictors of severe AR, and assess mid-term prognosis. Methods and results Retrospective search in imaging exams database of one tertiary centre, for patients diagnosed with QAV between January 2007 and September 2019. QAV was characterized by cardiac computed tomography, transthoracic/transoesophageal echocardiography, and cardiac magnetic resonance. A total of 160 004 exams were reviewed and eight patients with QAV were identified (50% men, mean age 53.5 ± 10.7 years). The prevalence of QAV was 0.005%. During a median follow-up of 52 months (interquartile range 16–88), there were no deaths. Seven patients (88%) had pure AR (three severe, one moderate, and three mild) and one patient (12%) had moderate AR and moderate aortic stenosis. Three patients (38%) with severe AR underwent valve surgery (two replacements and one repair). Analysis of predictors of severe AR was not statistically significant. Conclusion QAV is a rare congenital cardiac defect, with a prevalence of 0.005% in our study. Its predominant functional abnormality was regurgitation and about one-third of the patients required aortic valve surgery. Multimodality imaging may play a pivotal role in assessing patients with QAV with significant valve dysfunction or associated congenital heart disease and improve their treatment strategy.

Introduction: Accumulation of epicardial adipose tissue (EAT) is associated with coronary artery disease (CAD) and increased risk of coronary events in asymptomatic subjects and low-risk patients, suggesting that EAT promotes atherosclerosis in its early stage. Recent studies have shown that the presence of CAD affects the properties of adjacent EAT, leading to dynamic changes in the molecular players involved in the interplay between EAT and the coronary arteries over the history of the disease. The role of EAT in late-stage CAD has not been investigated. Objectives: In a comparative analysis with mediastinal and subcutaneous adipose tissue, we aim to investigate whether the volume of EAT assessed by computed tomography and its proteome assessed by SWATH-MS mass spectrometry are associated with late stages of CAD in an elderly cohort of severe aortic stenosis patients. Methods: The EPICHEART study (NCT03280433) is a prospective study enrolling patients with severe degenerative aortic stenosis referred for elective aortic valve replacement, whose protocol includes preoperative clinical, nutritional, echocardiographic, cardiac computed tomography and invasive coronary angiographic assessments. During cardiac surgery, samples of EAT and mediastinal and subcutaneous thoracic adipose tissue are collected for proteomics analysis by SWATH-MS. In addition, pericardial fluid and peripheral and coronary sinus blood samples are collected to identify circulating and local adipose tissue-derived biomarkers of CAD. Conclusion: We designed a translational study to explore the association of EAT quantity and quality with advanced CAD. We expect to identify new biochemical factors and biomarkers in the crosstalk between EAT and the coronary arteries that are involved in the pathogenesis of late coronary atherosclerosis, especially coronary calcification, which might be translated into new therapeutic targets and imaging tools by biomedical engineering. Resumo: Introdução: Acumulação de tecido adiposo epicárdico (TAE) tem sido associado a doença coronária aterosclerótica (DC) e aumento do risco de eventos coronários em indivíduos assintomáticos e doentes de baixo risco, sugerindo que o TAE pode promover fases precoces da DC. Estudo recentes mostraram que a presença de DC afeta as características do TAE adjacente levando a modificações dinâmicas nos mediadores envolvidos na comunicação entre o TAE e as artérias coronárias ao longo da história da DC. O papel doTAE nas fases avançadas da aterosclerose coronária não foi investigado. Objetivos: Através de análise comparativa com o tecido adiposo mediastínico e subcutâneo, pretendemos investigar se o volume do TAE, avaliado por tomografia computadorizada (TC), e o seu proteoma, avaliado por espectrometria de massa técnica de SWATH, estão associados a estadios avançados da DC numa coorte de estenose aórtica grave. Métodos: O estudo EPICHEART (NCT03280433) é um estudo prospetivo que inclui doentes com estenose aórtica grave referenciados para substituição eletiva da válvula aórtica, cujo protocolo envolve avaliação pré-operatória clínica, nutricional, ecocardiográfica, por TC e angiografia coronária invasiva. Durante a cirurgia cardíaca, colhemos amostras de tecido adiposo epicárdico, mediastínico e subcutâneo para análise do seu proteoma por espectrometria de massa técnica de SWATH. Adicionalmente, colhemos líquido pericárdico, sangue venoso periférico e do seio coronário para investigar mediadores de DC derivados do TAE na circulação sistémica e local. Conclusão: Desenhámos um estudo de translação para explorar a associação da quantidade e qualidade do TAE com a DC tardia. Esperamos identificar mediadores da comunicação recíproca entre o TAE e as artérias coronárias que estão envolvidos na patogénese das fases avançadas da DC, especialmente, calcificação coronária, os quais podem servir como novos alvos terapêuticos e soluções de engenharia biomédica para visualização da DC.

The abstract is available here: https://uscholar.univie.ac.at/o:1643167

The correct determination of aortic annulus dimensions is a crucial step to avoid complications in Transcatheter Aortic Valve Replacement (TAVR). Currently, the gold standard method for the evaluation of the aortic annulus is Multidetector Computed Tomography (MDCT), which is limited by the risk of contrast-induced nephropathy. Three-dimensional transesophageal echocardiography automated software (3DTEEa) have been used as an alternative in patients with contra-indications to MDCT. We aimed to evaluate the accuracy of 3DTEEa-derived aortic annulus dimensions; to assess the influence of calcification in the agreement between 3DTEEa and MDCT; and to determine reclassification in prosthesis size choice if 3DTEEa was the only imaging method. One hundred and seven consecutive patients referred for TAVR were studied. Aortic annulus dimensions were determined using MDCT and 3DTEE manual (3DTEEm) and automated measurements. Valve calcification was assessed with MDCT. Limits of agreement (LOA) were narrower for 3DTEEa (minimum diameter: mean bias 0.60; LOA - 2.94 to 4.14; maximum diameter: mean bias 0.20; LOA - 3.82 to 4.22) as compared to 3DTEEm (minimum diameter: mean bias 0.22; LOA - 3.84 to 4.28; maximum diameter: mean bias - 1.25; LOA - 6.37; 3.86). Compared to MDCT, 3DTEEa overestimated while 3DTEEm underestimated most parameters. No differences were found in average bias between methods according to quartiles of valve calcification. Most patients would have received the same size valve (63.9%) if 3DTEEa was the only available method. Measurement of aortic annulus dimensions using a 3DTEE automatic software is feasible and not influenced by valve calcification. It may be an alternative for patients who cannot undergo MDCT.

Introdução: A prevenção em saúde é o principal mote da Organização Mundial de Saúde (OMS) e há muitas décadas é já aplicada nas acções de saúde pública de todos os países da União Europeia, inclusive Portugal. Objetivo: Discutir a questão da responsabilidade social e individual no actual cenário da Saúde Pública em Portugal, face a uma proposta política de possível abandono de um modelo de responsabilidade partilhada na saúde pública. Métodos: Este estudo aborda o Estado social e saúde verificadas ao longo das últimas décadas na Europa e em Portugal, discute a Ética e saúde pública cujas acções se situam na intersecção entre Riscos, Efeitos na Saúde e Prevenção, dicerne a Responsabilidade individual e social que emergem dos valores que orientam ou deveriam orientar as nossas relações com os outros, debate a Justiça e direito à saúde acom base na realidade da saúde em Portugal, que parece ser um dilema ético para quem toma decisões acerca do estabelecimento de prioridades no uso dos recursos financeiros. Resultados: O estudo relatou que a atual situação das finanças públicas, especialmente em Portugal, deveria remeter para a busca de novas perspectivas em que a participação de todos os agentes de saúde torna-se indispensável; em particular médicos, enfermeiros e outros técnicos, no sentido de apresentarem as suas posições quanto aos modos como desejam exercer a sua atividade profissional, numa clara definição de direitos e de deveres. Conclusão: Ressalta-se a necessidade de o Estado, com o empenho dos profissionais de saúde, estabelecer os princípios políticos, financeiros e clínicos para um plano de saúde eficiente e eficaz.

Introduction Coronary computed tomography angiography (cCTA) is widely considered the optimal non-invasive test to rule out coronary artery disease (CAD) and the gatekeeper for invasive coronary angiography (ICA). However, its diagnostic utility in elderly patients (pts) and in cases of high pre-test probability (PTP) is still questioned. Aim To determine whether older age and high PTP are correlated with non-diagnostic cCTA scans in pts with suspected chronic coronary syndrome (CCS). Methods Single-centre retrospective study of 302 pts with suspected CAD assigned to two groups: (A) 207 pts aged ≥70 years (y); (B) 95 aged Results Overall, mean age was 68±9y and 53% were male. Elderly pts presented more co-morbidities (hypertension: 78.3 vs 54.7%, p Conclusion In this comparison study of elderly and young pts undergoing cCTA for suspected CCS, age ≥70y and high PTP were not associated with non-diagnostic tests while multiple calcified lesions and severe LCX calcification predicted inconclusive studies. Our results cast hope on the applicability of cCTA to elderly pts and cases with high PTP, although larger studies are required. Funding Acknowledgement Type of funding source: None

Background The association of epicardial adipose tissue (EAT) and coronary artery calcification (CAC) seems to differ by gender. However, few studies have controlled for body size, and the ideal method for body size indexing has not been explored. Objectives To analyse the effect of gender related-body size and-body fat differences on the association of EAT with CAC. Methods This was a prospective cohort of 371 severe aortic stenosis patients (77±8.5year-old, 51% females) referred to cardiac surgery. Agatston calcium score, EAT volume and visceral abdominal fat (VAF) were obtained by computed tomography. Body composition was determined using bioelectrical impedance analysis. Body weight and height were measured to derive body mass index (BMI), body surface area (BSA), and body surface index (BSI). EAT volume was normalized for BSA, weight and height. Results Median CAC score was higher in men (887; IQR: 2010) than in women (279: IQR: 145) ( p vs. 106±65.6mL, p p Conclusions In these high-risk patients, we demonstrated that EAT was associated with CAC score irrespective of body size, body fat and cardiovascular risk factors in men but not in women.

Background Transcatheter aortic valve replacement (TAVR) is often associated with intraventricular conduction disturbances. We aimed to determine the association between implantation depth assessed by multidetector computed tomography (MDCT) and new-onset conduction abnormalities after TAVR. Methods Retrospective single-center study including patients consecutively submitted to TAVR, between August/2007 and October/2016, who underwent routine MDCT 3 months after the procedure. The endpoint of conduction disturbances included permanent pacemaker implantation and/or new-onset left bundle-branch block. Implantation depth was determined as the distance between the ventricular end of the prothesis and the native ring, at the level of the non-coronary cusp. Results 138 patients were included (female gender 52.2%, mean age 78.7 ± 6.9 years). The EuroSCORE II was 4.0 ± 3.9% and 57.2% were treated with self-expanding prosthesis. The endpoint of conduction abnormalities was found in 45.7% (n = 63). The implantation depth was greater in the group with conduction disturbances (7.7 vs 6.4 mm, p = 0.006). Chronic obstructive pulmonary disease, oversizing and implantation depth were independent predictors of conduction abnormalities. Implantation depth had an AUC of 0.64 (p = 0.004) for the prediction of conduction abnormalities and a cut-off value of 7.1 mm predicted the composed endpoint with a sensitivity and specificity of 65% and 70%, respectively. Conclusions Implantation depth assessed by MDCT is associated with new-onset conduction disturbances after TAVR. In patients with conduction abnormalities, which do not qualify for the immediate implantation of pacemaker, the assessment of implantation depth by MDCT may be an additional marker of risk to aid decision-making.

Background & aims The role of epicardial adipose tissue (EAT) in the pathophysiology of late stage-coronary artery disease (CAD) has not been investigated. We explored the association of EAT volume and its proteome with advanced coronary atherosclerosis. Methods The EPICHEART Study prospectively enrolled 574 severe aortic stenosis patients referred to cardiac surgery. Before surgery, EAT volume was quantified by computed tomography (CT). During surgery, epicardial, mediastinal (MAT) and subcutaneous (SAT) adipose tissue samples were collected to explore fat phenotype by analyzing the proteomic profile using SWATH-mass spectrometry; pericardial fluid and peripheral venous blood were also collected. CAD presence was defined as coronary artery stenosis ≥50% in invasive angiography and by CT-derived Agatston coronary calcium score (CCS). Results EAT volume adjusted for body fat was associated with higher CCS, but not with the presence of coronary stenosis. In comparison with mediastinal and subcutaneous fat depots, EAT exhibited a pro-calcifying proteomic profile in patients with CAD characterized by upregulation of annexin-A2 and downregulation of fetuin-A; annexin-A2 protein levels in EAT samples were also positively correlated with CCS. We confirmed that the annexin-A2 gene was overexpressed in EAT samples of CAD patients and positively correlated with CCS. Fetuin-A gene was not detected in EAT samples, but systemic fetuin-A was higher in CAD than in non-CAD patients, suggesting that fetuin-A was locally downregulated. Conclusions In an elderly cohort of stable patients, CCS was associated with EAT volume and annexin-A2/fetuin-A signaling, suggesting that EAT might orchestrate pro-calcifying conditions in the late phases of CAD.

Allelic frequencies of 15 autossomal STRs (D8S1779, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were determined in 160 samples of unrelated individuals from two main Mozambican´s populations groups namely, Macua and Changana. Statistic parameters of forensic interest were assessed as well as a comparative study with African, European and Latin-American populations. Our data showed no significant differences between Macua and Changana populations (P > 0.05). No deviation from Hardy-Weinberg equilibrium was observed in all 15 autosomal STR loci (P > 0.05). Combined power of discrimination and combined probability of exclusion were 0.99999999997 and 0.999999466 respectively. Locus by locus comparison showed significant differences (P

The effectiveness of “hands-on” physiotherapy for stroke is unclear. The objective here is to analyze the effectiveness of such interventions on movement-related International Classification of Functionality, Disability and Health (ICF) categories. A systematic review was undertaken of randomized controlled trials published since 1980, using the following criteria: stroke, humans, ≥ 18 years, outcomes related to ICF movement-related categories, physiotherapeutic handling techniques, control group as placebo or no intervention, including experiments where both groups have the same intervention and the experimental group has one extra intervention. Nine studies were included and a best evidence synthesis is presented. Recommendations with limited evidence favor slow-stroke back massage for shoulder pain, range-of-motion exercises for upper-limb and lower-limb structures and functions of muscles and joints, proprioceptive neuromuscular facilitation (PNF) for gait step, walking backwards with hip faci...

Background Previous studies showed that metabolic syndrome is associated with aortic valve calcification (AVC) and poor outcomes in aortic stenosis (AS). However, if these associations change and how body fat impacts the prognosis of patients in late stage of the disease have been not yet explored. Aims To determine the association of body mass index (BMI) and visceral fat with AVC and mortality after transcatheter aortic valve replacement (TAVR). Methods This was a prospective cohort of 170 severe AS patients referred to TAVR. We quantified AVC mass score and fat depots including epicardial adipose tissue, intrathoracic fat, and abdominal visceral (VAF) and subcutaneous fats by computed tomography. Fat depots were indexed to body surface area. All-cause and cardiovascular-related deaths after TAVR were recorded over a median follow-up of 1.2 years. Results Higher AVC mass was independently associated with low BMI and low VAF. All-cause mortality risk increased with the decrease of BMI and increment of VAF. A stratified analysis by obesity showed that in non-obese, VAF was inversely associated with mortality, whereas in obese, high VAF was associated with higher mortality (p value for interaction

OBJECTIVES Compare final morphology of self-expanding and balloon-expandable prosthesis and association with paravalvular regurgitation (PVR). BACKGROUND PVR after transcatheter aortic valve replacement (TAVR) remains a frequent complication. A better understanding of the prosthesis geometry may be important to improve selection of the best device for each case and possibly reduce the rates of PVR. METHODS Retrospective study including patients consecutively submitted to transcatheter aortic valve replacement: August/2007-October/2016. Three months after the procedure a multidetector computed tomography (MDCT) was performed to assess prosthesis geometry: dimensions, eccentricity, and expansion. RESULTS A total of 147 individuals were included (mean age of 78.8 ± 6.7 and 50.3% males), 57% treated with a self-expanding prosthesis. On the postprocedure MDCT, the self-expanding group had higher eccentricity index (15.0 vs. 7.1%, p

Esta proposta se inscreve como parte de um projeto de pós-doutoramento, vinculado ao CECS. No contexto da atual fase desta investigação, pretende- -se partilhar com a comunidade académica algumas reflexões teóricas em torno da governança dos riscos, da participação pública e da comunicação a partir da teoria de Ulrich Beck sobre a sociedade do risco global. Destaca-se a importância da dimensão normativa da teoria de Beck na discussão de um certo modelo de governança do risco, ressaltando-se uma noção de participação que não se restringe a instrumento ou método auxiliar à governança para que se chegue a um fim, no caso, a “tomada de decisão”. Salienta-se, ainda a pertinência da força desestabilizadora e geradora de conflitos do risco global que, para além de nos empurrar a todos para o centro de uma crise, parece ser justamente aquilo que pode compelir à participação e ao diálogo ou, visto de outra perspetiva, à própria ação política., Este artigo faz parte do projeto de pós-doutoramento CIRIS – Comunicação do risco industrial em Portugal, financiado pela FCT – Fundação para a Ciência e Tecnologia., info:eu-repo/semantics/publishedVersion

Introduction and Aims: Differentiation of ischemic from non-ischemic etiology in heart failure (HF) patients has both therapeutic and prognostic implications. One possible approach to this differentiation is direct visualization of the coronary tree. Multidetector computed tomography (MDCT) has emerged as an alternative to invasive coronary angiography (ICA), but its performance and additional clinical value are still not well validated in patients with left ventricular (LV) dysfunction. We aimed to assess the value of coronary MDCT angiography (CTA) in the exclusion of ischemic etiology in HF patients and to determine whether the Agatston calcium score could be used as a gatekeeper for CTA in this context. Methods: We retrospectively selected symptomatic HF patients with LV ejection fraction (LVEF) 400. In patients referred for ICA, an ischemic etiology was assumed in the presence of ≥75% stenosis in two or more epicardial vessels or ≥75% stenosis in the left main or proximal left anterior descending artery. Results: During this period 100 patients (mean age 57.3±10.5 years, 64% men) with HF and systolic dysfunction were referred for MDCT to exclude CAD. Median effective radiation dose was 4.8 mSv (interquartile range 5.8 mSv). Mean LVEF was 35±7.7% (range 20-48%) and median CAC score was 13 (interquartile range 212). Seven patients were in atrial fibrillation.Almost half of the patients (40%) had no CAC and none of these had significant stenosis on CTA. In an additional group of 33 patients CTA was able to confidently exclude obstructive CAD. Twenty-seven patients were classified as positive for CAD (16 due to CAC >400 and 11 with ≥50% stenosis) and were associated with lower LVEF (p=0.004). Of these, 21 patients subsequently underwent ICA: obstructive CAD was confirmed in nine and only six had criteria for ischemic cardiomyopathy. Conclusion: In our HF population, MDCT was able to exclude an ischemic etiology in 73% of cases in a single test. According to our results the Agatston calcium score may serve as a gatekeeper for CTA in patients with HF, with a calcium score of zero confidently excluding an ischemic etiology. Resumo: Introdução e objetivos: A diferenciação entre etiologia isquémica de etiologia não-isquémica em pacientes com insuficiência cardíaca (IC) tem implicações terapêuticas e prognósticas. Uma abordagem possível para esta diferenciação é a visualização direta da árvore coronária. A tomografia computorizada (TC) surgiu como uma alternativa à angiografia coronária, mas o seu desempenho e valor clínico adicional ainda não se encontram validados em pacientes com disfunção do ventrículo esquerdo. O nosso objetivo foi avaliar o papel da angio-TC coronária na exclusão de etiologia isquémica em pacientes com IC e avaliar se o score e cálcio Agatston pode ser usado como gatekeeper para a angio-TC coronária neste contexto. Métodos: Foram selecionados retrospetivamente pacientes com IC sintomática com fração de ejeção do ventrículo esquerdo (FEVE)400. Nos pacientes referenciados para angiografia coronaria, a etiologia isquémica foi assumida na presença de estenoses ≥75% em duas ou mais artérias epicárdicas ou ≥75% no tronco comum ou no segmento proximal da artéria descendente anterior. Resultados: Durante este período, 100 pacientes (idade média: 57,3±10,5 anos, 64% homens) com IC e disfunção sistólica foram referenciados para TC para exclusão de DAC. A dose mediana de radiação efetiva foi de 4,8 mSv (intervalo interquartil 5,8 mSv). A FEVE média foi de 35±7,7% (intervalo 20-48%) e a mediana de score de cálcio Agatston foi de 13 (intervalo interquartil 212). Sete pacientes apresentavam fibrilhação auricular.Quase metade dos pacientes (40%) não apresentava score de cálcio e nenhum deles apresentava uma estenose significativa na angio-TAC coronária. A angio-TC coronária foi capaz de excluir DAC obstrutiva num outro grupo de 33 doentes. Vinte e sete pacientes foram classificados como positivos para a presença de DAC (16 através do score de cálcio Agatston>400 e 11 apresentavam estenoses≥50%) e foram associados a uma menor FEVE (p=0,004). Destes, 21 pacientes realizaram angiografia coronária: em 9 foi confirmada a presença de DAC obstrutiva e apenas seis apresentavam critérios para cardiomiopatia isquémica. Conclusões: Na nossa população com IC, a TC foi capaz de excluir uma etiologia isquémia em 73% dos casos com um único teste. De acordo com os nossos resultados, o score de cálcio Agatston pode servir como gatekeeper para a angio-TAC coronária em pacientes com IC, com um score de cálcio de 0 a excluir confiadamente uma etiologia isquémica em pacientes com IC. Keywords: Heart failure, Coronary heart disease, Ischemic cardiomyopathy, Multidetector computed tomography, Computed tomography angiography, Agatston calcium score, Palavras-chave: Insuficiência cardíaca, Doença arterial coronária, Cardiomiopatia isquémica, Tomografia computorizada multicortes, Angio-TC Coronária, Score cálcio Agatston

The achievement of complete genetic profiles of degraded and/or inhibited biological samples is a challenging task for forensic scientists. Our aim was to find out the behavior of GlobalFiler ® PCR amplification kit in the presence of difficult samples and its ability to substitute or to be complemented by AmpFlSTR ® MiniFiler™ kit. Degraded bloodstains were extracted by three methods, quantified and amplified with AmpFlSTR ® IdentiFiler™, AmpFlSTR ® MiniFiler™ and/or GlobalFiler ® PCR. In 6 of the 14 analyzed samples, GlobalFiler ® kit enabled a complete genetic profile even when the sample had a DNA concentration as low as 0.0049ng/ml, while in some of these samples Minifiler™ provided a partial profile or didn't amplify any of the markers in study.

Short tandem repeats (STRs) became a vital tool in forensic genetics due to its high level of polymorphism and abundance in the human genome. Y-chromosome short tandem repeats (Y-STRs) specifically, play an important role in sexual assault cases, where the female component is in greater proportion than the male component, in complex paternity testing of male children and in the process of identification in cases of missing persons or disaster victim identification, involving profiles of male relatives. The PowerPlex ® Y23 System is a five-dye Y-STR multiplex that allows simultaneous genotyping of 23 Y-STR loci (DYS576, DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS385a/b, DYS456 and Y-GATA-H4). In this study, samples of 243 unrelated male individuals living in the south of Portugal were amplified in a GeneAmp ® 9700 Thermal Cycler. PCR products were separated and detected on an ABI PRISM ® 3130 xl and the electrophoresis results analyzed with GeneMapper ® ID software v1.2. Allele frequencies and haplotype frequencies were estimated and compared with frequencies from other European population. The results show that the study of Y-STRs using PowerPlex ® Y23 kit, provide a powerful discrimination tool for routine forensic applications.

Objectives This study sought to compare computed tomography delayed enhancement (CTDE) against cardiac magnetic resonance (CMR) late gadolinium enhancement (LGE) for detection of ischemic scar and to test the additive value of CTDE as part of a comprehensive multidetector computed tomography (MDCT) stress–rest protocol including computed tomography perfusion (CTP) and computed tomography angiography (CTA) for the diagnosis of significant coronary artery disease (CAD). Background CTDE has been recently described as a promising tool for noninvasive detection of myocardial scar, similarly to CMR-LGE techniques. Despite its theoretical potential as an adjunctive tool to improve MDCT accuracy for detection of CAD, its clinical performance has not been validated. Methods One hundred five symptomatic patients with suspected CAD (age 62.0 ± 8.0 years, 67% men) underwent MDCT, CMR, and x-ray invasive coronary angiography. The MDCT protocol consisted of calcium scoring, stress CTP under adenosine 140 μg/kg/min, rest CTP + CTA, and a low-dose radiation prospective scan for detection of CTDE. CMR-LGE was used as the reference standard for assessment of scar. Functionally significant CAD was defined as the presence of ≥90% stenosis/occlusion or fractional flow reserve measurements ≤0.80 in vessels >2 mm. Results CTDE had good accuracy (90%) for ischemic scar detection with low sensitivity (53%) but excellent specificity (98%). Positive and negative predictive values were 82% and 91%, respectively. On a patient-based model, MDCT protocol without integration of CTDE results had a sensitivity, specificity, and positive and negative predictive values of 90%, 81%, 80%, and 90%, respectively, for the detection of functionally significant CAD. Addition of CTDE results did not improve MDCT performance (90%, 77%, 77%, and 90%, respectively). Conclusions CTDE has moderate accuracy for detection of ischemic scar in patients with suspected CAD. Integration of CTDE into a comprehensive MDCT protocol including stress–rest CTP and CTA does not improve MDCT accuracy for detection of significant CAD in intermediate-to-high pre-test probability populations.

DNA typing of biological samples can be a challenging task due to the presence of small amounts of DNA and/or a high content of PCR inhibitors. Our aim is to develop a protocol to recover DNA suitable for DNA typing from blood-stained fabrics based on the DNA IQ System. Blood stains on different fabrics were buried in different types of soil and left for 1–7 days. The samples were then recovered and DNA was extracted with a modified DNA IQ System protocol, involving a modification in the preparation of the Wash Buffer. The samples extracted with the modified protocol showed a higher amount of recovered DNA compared with the recommended protocol. The removal of isopropanol from the Wash Buffer composition contributes to a higher amount of recovered DNA.

Coronary artery aneurysms are uncommon but potentially hazardous entities found on a small percentage of coronary angiograms. The best management strategy remains to be determined; the coexistence of obstructive coronary artery disease is the main determinant of prognosis.We report the case of a middle-aged woman with mixed aneurysmal and obstructive coronary artery disease presenting as an acute myocardial infarction, probably due to atherosclerosis. The unusual severity and complexity of the angiographic presentation of this case, with involvement of all major coronary arteries, raises important issues in terms of the patient's treatment options. Resumo: Os aneurismas das artérias coronárias são entidades raras, presentes numa pequena percentagem das angiografias coronárias, embora associadas a complicações potencialmente graves. A melhor conduta no tratamento destas situações ainda não foi estabelecida e a coexistência de doença coronária obstrutiva é o principal determinante prognóstico.Reportamos o caso de uma mulher de meia-idade com doença coronária mista, obstrutiva e aneurismática, diagnosticada no contexto de enfarte agudo do miocárdio e de provável etiologia aterosclerótica. A gravidade e a complexidade incomuns da apresentação angiográfica do nosso caso, levantaram aos autores questões importantes no domínio da decisão terapêutica. Keywords: Coronary artery aneurysms, Atherosclerosis, Acute myocardial infarction, Palavras-chave: Aneurismas coronários, Aterosclerose, Enfarte agudo do miocárdio

Resumo: Introdução: Apesar da rápida evolução das próteses valvulares aórticas percutâneas, persistem restrições anatómicas que podem limitar o acesso dos doentes com estenose aórtica severa a este tratamento. O objetivo deste estudo foi determinar a proporção de doentes anatomicamente adequados para os diferentes dispositivos e acessos, numa população candidata a este tratamento. Métodos: Análise retrospetiva de 145 doentes consecutivos referenciados ao nosso centro para implantação de válvula aórtica percutânea. A dimensão do anel aórtico foi determinada por ecocardiograma transesofágico e o diâmetro mínimo das artérias iliofemorais foi obtido por tomografia computadorizada multidetetores. Foi determinada a proporção de doentes anatomicamente adequados para as próteses atualmente disponíveis (Medtronic CoreValve de 26, 29 e 31 mm por acesso transfemoral, transaxilar ou transaórtico; Edwards Sapien XT de 23, 26 e 29 mm por acesso transfemoral ou transapical). Resultados: Dos doentes avaliados, 89% eram adequados para as próteses Medtronic CoreValve por via transfemoral e 93,8% eram adequados para abordagem subclávia ou transaórtica. Em relação às próteses Edwards Sapien XT, 82,1% eram adequados para acesso transfemoral e 97,2% eram adequados para a via transapical. Apenas 1,4% dos doentes não apresentavam anatomia viável para esta técnica considerando todos os dispositivos e abordagens possíveis. Conclusões: Nesta população, a maioria dos doentes foi considerada anatomicamente adequada para tratamento percutâneo, numa estratégia multidispositivo e multiabordagem. Abstract: Introduction: Despite rapid advances in transcatheter aortic valve prostheses, anatomical constraints remain that can limit access to this treatment for patients with severe aortic stenosis. The objective of this study was to determine the proportion of patients anatomically suitable for this technique using the different devices and approaches available. Methods: We retrospectively analyzed 145 consecutive patients referred to our center for transcatheter aortic valve implantation. Aortic annulus diameter was measured by transesophageal echocardiography and minimum iliofemoral diameter was determined by multidetector computed tomography. We determined the proportion of patients anatomically suitable for current devices (26-mm, 29-mm and 31-mm Medtronic CoreValve for transfemoral, transaxillary or transaortic approaches, and 23-mm, 26-mm and 29-mm Edwards Sapien XT for transfemoral or transapical approaches). Results: The Medtronic CoreValve was suitable for 89% of patients via transfemoral access and 93.8% via transaxillary or transaortic approaches, while the Edwards Sapien XT was suitable for 82.1% of patients via transfemoral and 97.2% via transapical approaches. Only 1.4% of patients were anatomically unsuitable for all devices and approaches. Conclusions: In this population, most patients were anatomically suitable for transcatheter aortic valve implantation if assessed on the basis of multiple devices and multiple access approaches. Palavras-chave: Implantação percutânea de válvula aórtica, Anatomia, Anel aórtico, Artérias iliofemorais, Keywords: Transcatheter aortic valve implantation, Anatomy, Aortic annulus, Iliofemoral arteries

Introduction: Despite rapid advances in transcatheter aortic valve prostheses, anatomical constraints remain that can limit access to this treatment for patients with severe aortic stenosis. The objective of this study was to determine the proportion of patients anatomically suitable for this technique using the different devices and approaches available. Methods: We retrospectively analyzed 145 consecutive patients referred to our center for transcatheter aortic valve implantation. Aortic annulus diameter was measured by transesophageal echocardiography and minimum iliofemoral diameter was determined by multidetector computed tomography. We determined the proportion of patients anatomically suitable for current devices (26-mm, 29-mm and 31-mm Medtronic CoreValve for transfemoral, transaxillary or transaortic approaches, and 23-mm, 26-mm and 29-mm Edwards Sapien XT for transfemoral or transapical approaches). Results: The Medtronic CoreValve was suitable for 89% of patients via transfemoral access and 93.8% via transaxillary or transaortic approaches, while the Edwards Sapien XT was suitable for 82.1% of patients via transfemoral and 97.2% via transapical approaches. Only 1.4% of patients were anatomically unsuitable for all devices and approaches. Conclusions: In this population, most patients were anatomically suitable for transcatheter aortic valve implantation if assessed on the basis of multiple devices and multiple access approaches. Resumo: Introdução: Apesar de a rápida evolução das próteses valvulares aórticas percutâneas, persistem restrições anatómicas que podem limitar o acesso dos doentes com estenose aórtica severa a este tratamento. O objetivo deste estudo foi determinar a proporção de doentes anatomicamente adequados para os diferentes dispositivos e acessos, numa população candidata a este tratamento. Métodos: Análise retrospetiva de 145 doentes consecutivos referenciados ao nosso centro para implantação de válvula aórtica percutânea. A dimensão do anel aórtico foi determinada por ecocardiograma transesofágico e o diâmetro mínimo das artérias iliofemorais foi obtido por tomografia computadorizada multidetetores. Foi determinada a proporção de doentes anatomicamente adequados para as próteses actualmente disponíveis (Medtronic CoreValve de 26, 29 e 31 mm por acesso transfemoral, transaxilar ou transaórtico; Edwards Sapien XT de 23, 26 e 29 mm por acesso transfemoral ou transapical). Resultados: Dos doentes avaliados, 89% eram adequados para as próteses Medtronic CoreValve por via transfemoral e 93,8% eram adequados para abordagem subclávia ou transaórtica. Em relação às próteses Edwards Sapien XT, 82,1% eram adequados para acesso transfemoral e 97,2% eram adequados para a via transapical. Apenas 1,4% dos doentes não apresentavam anatomia viável para esta técnica considerando todos os dispositivos e abordagens possíveis. Conclusões: Nesta população, a maioria dos doentes foi considerada anatomicamente adequada para tratamento percutâneo, numa estratégia multi-dispositivo e multi-abordagem. Keywords: Transcatheter aortic valve implantation, Anatomy, Aortic annulus, Iliofemoral arteries, Palavras-chave: Implantação percutânea válvula aórtica, Anatomia, Anel aórtico, Artérias iliofemorais

Anomalous aortic origin of coronary arteries (AAOCA) is one of the most frequent causes of cardiovascular sudden death among the young population. We aimed to determine the prevalence and anatomic characteristics of AAOCA in a population referred to computed tomography angiography (CTA) and to describe the clinical prognosis of these findings at middle term follow-up. From a total of 3539 CTA, 53 were found to have AAOCA. This population was compared to an age and gender matched control group (n = 106) from the same CTA list. A telephone follow-up to determine cardiac events was conducted, with a mean follow-up of 45.9 +/- 28.2 months. Prevalence of AAOCA was 1.5 %. The most common AAOCA was an origin of the right coronary artery (RCA) from the left coronary sinus, followed by an origin of the left circumflex artery (LCX) arising from the right coronary sinus. All patients with an anomalous origin of the RCA had an interarterial course. Four additional patients were found to have an interarterial course: 1 with an anomalous origin of LCX and 3 with an anomalous origin of the left main coronary artery (LMCA). At follow-up there were 33 (21.2 %) cardiac events, 9 (17.6 %) on the AAOCA group and 24 (22.9 %) on the control group (p = 0.46). Cardiac events and cardiovascular deaths were not related to any particular AAOCA or to interarterial courses. Among an adult population referred to CTA, AAOCA were not related with worse middle term prognosis when compared to an age- and gender- matched population.