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Grassroots urban horticultural plots (hortas), part of the Porto Metropolitan Area in Northern Portugal, are presented as liminal spaces that hold a richness of community life and a “gift economy.” Often in existence for several decades and encompassing groups of over 20 or 30 people, these informal communities are, nevertheless, not cherished by the instances of city governance that do not stand in the way of the destruction of these low‐income urbanite horticultural communities. The use of de Certeau’s concepts of “strategy” and “tactics” are used to try and explain this incompatibility between these two forms of urban (self) governance that hinders the right to the city by the low‐income urbanites who have created these horticultural grassroots communities.

Aorto-ostial lesions, especially in the right coronary artery, may be challenging due to their morphological and anatomical features, more so when there is a previous stent which may be protruding. Little is known about the long-term safety of protruding stents and results of re-intervention. Presented here is a case of restenosis of a markedly protruding stent at the right coronary ostium. This case was unusual in its 10-year longevity. Intravascular ultrasound-guided in-stent restenosis intervention using wire bumper technique was performed. Literature review and management are presented.

Background: The effectiveness of artemisinin-based combination therapies (ACT) in treating Plasmodium falciparum, is vital for global malaria control efforts, particularly in sub-Saharan Africa. The examination of imported cases from endemic areas holds implications for malaria chemotherapy on a global scale. Method: A 45-year-old male presented with high fever, dry cough, diarrhoea and generalized muscle pain, following a two-week trip to Mozambique. P. falciparum infection with hiperparasitemia was confirmed and the patient was treated initially with quinine and doxycycline, then intravenous artesunate. To assess drug susceptibility, ex vivo half-maximal inhibitory concentration assays were conducted, and the isolated P. falciparum genome was deep sequenced. Results: The clinical isolate exhibited elevated ex vivo half-maximal inhibitory concentration values to dihydroartemisinin, lumefantrine, mefloquine and piperaquine. Genomic analysis identified a I416V mutation in the P. falciparum Kelch13 (PF3D7_1343700) gene, and several mutations at the Kelch13 interaction candidate genes, pfkics (PF3D7_0813000, PF3D7_1138700, PF3D7_1246300), including the ubiquitin carboxyl-terminal hydrolase 1, pfubp1 (PF3D7_0104300). Mutations at the drug transporters and genes linked to next-generation antimalarial drug resistance were also present. Conclusions: This case highlights the emergence of P. falciparum strains carrying mutations in artemisinin resistance-associated genes in Mozambique, couple with a reduction in ex vivo susceptibility to ACT drugs. Continuous surveillance of mutations linked to drug resistance and regular monitoring of drug susceptibility are imperative to anticipate the spread of potential resistant strains emerging in Mozambique and to maintain effective malaria control strategies.

Summary: Male mice lacking the androgen receptor (AR) in pancreatic β cells exhibit blunted glucose-stimulated insulin secretion (GSIS), leading to hyperglycemia. Testosterone activates an extranuclear AR in β cells to amplify glucagon-like peptide-1 (GLP-1) insulinotropic action. Here, we examined the architecture of AR targets that regulate GLP-1 insulinotropic action in male β cells. Testosterone cooperates with GLP-1 to enhance cAMP production at the plasma membrane and endosomes via: (1) increased mitochondrial production of CO2, activating the HCO3−-sensitive soluble adenylate cyclase; and (2) increased Gαs recruitment to GLP-1 receptor and AR complexes, activating transmembrane adenylate cyclase. Additionally, testosterone enhances GSIS in human islets via a focal adhesion kinase/SRC/phosphatidylinositol 3-kinase/mammalian target of rapamycin complex 2 actin remodeling cascade. We describe the testosterone-stimulated AR interactome, transcriptome, proteome, and metabolome that contribute to these effects. This study identifies AR genomic and non-genomic actions that enhance GLP-1-stimulated insulin exocytosis in male β cells.

Introduction: Clostridium difficile infection has been increasingly reported, with a significant healthcare burden and important morbimortality. This study aimed to characterize and describe the severity and outcomes of this event at a Portuguese hospital. Material and Methods: We conducted a retrospective analysis, by clinical record review, of all confirmed cases diagnosed in a hospital in the North of Portugal, between January 2013 and December 2018. We included those who were non-pregnant and at least 18 years old. Results: Fifty-seven cases occurred, mostly in females and aged patients; 33.3% were healthcare facility-outset, while 31.6% were community-associated. Regarding severity, 43.9% had non-severe, while 29.8% severe and 21.0% fulminant presentations, the latter with the need of admission. Exposure to antibiotics occurred in 68.4%, while to proton-pump inhibitors in 57.9%. Risk factors for severe disease were female gender, chronic renal disease, and high neutrophil-lymphocyte ratio. Moreover, renal disease and a higher ratio were associated with fulminant disease. Thirty-day all-cause mortality was found in 15.8% while 90-day in 28.1%. Risk factors for 30-day mortality were renal disease, higher Charlson score, and higher neutrophil-lymphocyte ratio. Risk factors for 90-day mortality were advanced age, previous antibiotic exposure, higher Charlson score, and higher neutrophil-lymphocyte ratio. Conclusion: Data concerning Clostridium difficile infection severity and prognosis in Portugal is scarce, and future studies should focus on this important topic.

Abstract: Psoriasis is a chronic disease, characterized by erythematous scaly lesions, presented in eight different forms: plaques, guttate, pustular, erythrodermic, inverse, nail and scalp psoriasis, and psoriatic arthritis. Its development depends on genetic factors, external stimulus and immune response alteration.1 Proinflammatory cytokines such as TNF-alpha, IL-12 and 23 may also be involved. In the worst cases, systemic complications linked to endothelial alterations may occur. A literature review was conducted for a better understanding of what roles VEGF (vascular endothelial growth factor) and ICAM-1 (intercellular adhesion molecule) have, among other cytokines, in systemic capillary leak syndrome, involved in erythrodermic and pustular psoriasis, the most unstable forms of the disease.

Streptococcus canis is an animal pathogen which occasionally causes infections in humans. The S. canis M-like protein (SCM) encoded by the scm gene, is its best characterized virulence factor but previous studies suggested it could be absent in a substantial fraction of isolates. We studied the distribution and variability of the scm gene in 188 S. canis isolates recovered from companion animals (n = 152), wild animal species (n = 20), and humans (n = 14). Multilocus sequence typing, including the first characterization of wildlife isolates, showed that the same lineages are present in all animal hosts, raising the possibility of extensive circulation between species. Whole-genome analysis revealed that emm-like genes found previously in S. canis correspond to divergent scm genes, indicating that what was previously believed to correspond to two genes is in fact the same scm locus. We designed primers allowing for the first time the successful amplification of the scm gene in all isolates. Analysis of the scm sequences identified 12 distinct types, which could be divided into two clusters: group I (76%, n = 142) and group II (24%, n = 46) sharing little sequence similarity. The predicted group I SCM showed extensive similarity with each other outside of the N-terminal hypervariable region and a conserved IgG binding domain. This domain was absent from group II SCM variants found in isolates previously thought to lack the scm gene, which also showed greater amino acid variability. Further studies are necessary to elucidate the possible host interacting partners of the group II SCM variants and their role in virulence.

AimsTo assess the impact of the introduction of direct oral anticoagulants upon the outcomes from elective electrical cardioversion for atrial fibrillation.MethodsThis is a retrospective comparison of delay to elective cardioversion with different anticoagulants. The data was gathered from a large regional hospital from January 2013 to September 2017. There were 3 measured outcomes: 1) the time in weeks from referral to the date of attempted electrical cardioversion; 2) the proportion of patients who were successfully cardioverted; and 3) the proportion of patients who remained in sinus rhythm by the 12 week follow-up. Time-to-cardioversion was non-parametrically distributed so was analysed with Kruskal-Wallis testing and Mann-Whitney-U testing. Maintenance of sinus rhythm was analysed using z-testing.Results1,374 patients were submitted to cardioversion. The referrals for cardioversion were either from primary care or from cardiologists. At the time of cardioversion, 789 cases were anticoagulated on warfarin (W), 215 on apixaban (A) and 370 on rivaroxaban (R). All 3 cohorts were initially compared independently using Kruskal-Wallis testing. This demonstrated a significant difference in the delay (measured in weeks) between the A and W group (A = 7, W = 9, PConclusionDOACs appear to significantly shorten the latency between the decision to cardiovert and the cardioversion procedure by at least 2 weeks compared to warfarin in a real-world setting. In this study, patients who had not previously been cardioverted who were anticoagulated with warfarin had a significantly lower probability of conversion to sinus rhythm and a significantly lower probability to remain in sinus rhythm at the 12 week follow-up compared to the combined apixaban and rivaroxaban group.

Although skin and soft tissue infections (SSTI) are the most common focal infections associated with invasive disease caused by Streptococcus pyogenes (Lancefield Group A streptococci - GAS), there is scarce information on the characteristics of isolates recovered from SSTI in temperate-climate regions. In this study, 320 GAS isolated from SSTI in Portugal were characterized by multiple typing methods and tested for antimicrobial susceptibility and SpeB activity. The covRS and ropB genes of isolates with no detectable SpeB activity were sequenced. The antimicrobial susceptibility profile was similar to that of previously characterized isolates from invasive infections (iGAS), presenting a decreasing trend in macrolide resistance. However, the clonal composition of SSTI between 2005 and 2009 was significantly different from that of contemporary iGAS. Overall, iGAS were associated with emm1 and emm3, while SSTI were associated with emm89, the dominant emm type among SSTI (19%). Within emm89, SSTI were only significantly associated with isolates lacking the hasABC locus, suggesting that the recently emerged emm89 clade 3 may have an increased potential to cause SSTI. Reflecting these associations between emm type and disease presentation, there were also differences in the distribution of emm clusters, sequence types, and superantigen gene profiles between SSTI and iGAS. According to the predicted ability of each emm cluster to interact with host proteins, iGAS were associated with the ability to bind fibrinogen and albumin, whereas SSTI isolates were associated with the ability to bind C4BP, IgA, and IgG. SpeB activity was absent in 79 isolates (25%), in line with the proportion previously observed among iGAS. Null covS and ropB alleles (predicted to eliminate protein function) were detected in 10 (3%) and 12 (4%) isolates, corresponding to an underrepresentation of mutations impairing CovRS function in SSTI relative to iGAS. Overall, these results indicate that the isolates responsible for SSTI are genetically distinct from those recovered from normally sterile sites, supporting a role for mutations impairing CovRS activity specifically in invasive infection and suggesting that this role relies on a differential regulation of other virulence factors besides SpeB.

Abstract: Kaposi's sarcoma (KS) is a multicentric vascular neoplasm, with cutaneous and extracutaneous involvement. Different clinical and epidemiological variants have been identified. The classic form is manifested mainly in elderly men with indolent and long-term evolution, with lesions localized primarily in the lower extremities. We present two cases of classic Kaposi's sarcoma (CKS) in two female patients with extensive, exuberant skin involvement and rapid evolution, with good response to radiotherapy.

Background - Inflammatory bowel disease, comprising Crohn's disease and ulcerative colitis, is a group of debilitating conditions associated with deregulated mucosal immune response. Vitamin D has been implicated in immune response and gastrointestinal function. Objectives - To investigate the correlation between serum vitamin D levels and disease activity and quality of life in patients with inflammatory bowel disease. Methods - This cross-sectional study enrolled ambulatory patients with inflammatory bowel disease and assessed clinical disease activity and quality of life (Short Inflammatory Bowel Disease Questionnaire [SIBDQ]). Vitamin D levels were determined via serum 25-hydroxyvitamin D measurement; deficiency was defined as values

AbstractDarier's disease is a rare autosomal dominant genodermatosis. It has an estimated prevalence of 1 in 55,000 to 100,000 individuals, regardless of gender. It is characterized by multiple keratotic papules on the seborrheic areas of the trunk, scalp, forehead and flexures, and the clinical picture is worsened by heat, sun exposure, perspiration and mechanical trauma. Histopathology observed loss of epithelial adhesion and abnormal keratinization. About 10% of cases present in the localized form of the disease. We report a case of segmental Darier's Disease Type I and discuss the main characteristics of this condition.

AbstractCollision tumors are characterized by the coexistence of two cancers in the same anatomical site and its pathogenesis remains controversial. Although uncommon, the association of basal cell carcinoma and melanocytic nevus is the most common among combinations of skin tumors. Even rarer is the association of two malignant tumors. We report a case of tumor collision representing melanoma and basosquamous cell carcinoma, a combination not previously described in the literature, since there are no reported cases of melanoma with this type of basal cell carcinoma.

Percutaneous coronary intervention is currently the most common form of revascularization for symptomatic coronary artery disease. In elderly, diabetic and renal patients, there is an increased prevalence of calcified coronary disease. Rotational atherectomy (RA) can be useful in the treatment of these lesions.Plaque removal was initially proposed as an alternative to balloon angioplasty, hence RA required high-velocity protocols with large-sized burrs (over 2.0 mm). With a high incidence of acute complications and disappointing restenosis rates, the use of RA dwindled. However, the advent of drug-eluting stents, which significantly decreased the rate of restenosis, led to the repositioning of RA as an adjunctive technique in the preparation of densely calcified lesions, improving stent delivery and expansion.In recent years, a better understanding of the mechanism of action of RA has changed it from a plaque debulking to a compliance modifying technique. As a result, RA has become less aggressive, using smaller size burrs and lower rotational speeds. This conservative approach has improved immediate results, with increased safety and better long-term outcomes.In this review paper, the technique of RA is explained in the light of current knowledge. Resumo: A angioplastia coronária tornou-se a forma mais habitual de revascularização miocárdica na doença coronária sintomática. Na população mais idosa, nos diabéticos e nos doentes com insuficiência renal crónica, a prevalência de lesões calcificadas tende a aumentar. A aterectomia rotacional (AR) é uma técnica de grande utilidade no tratamento destas situações.Tendo-se considerado inicialmente que a erosão da placa podia constituir uma alternativa à angioplastia de balão, a técnica de aterectomia rotacional utilizava protocolos de alta velocidade com olivas que ultrapassavam os 2,0 mm de diâmetro. A ocorrência de complicações agudas e resultados insuficientes a longo prazo limitaram a sua difusão. O aparecimento dos stents com fármaco com redução significativa das taxas de reestenose, levou ao reposicionamento da aterectomia rotacional como técnica adjuvante na preparação das lesões permitindo uma melhor entrega e expansão dos stents, no contexto de doença aterosclerótica calcificada.Nos últimos anos, tem-se assistido a uma melhor compreensão do mecanismo de acção da aterectomia rotacional que passou de debulking para modificação de compliance da placa. Consequentemente, a técnica tem-se tornado menos agressiva: utilizam-se olivas de menor calibre, com menor velocidade de rotação, alcançando-se elevadas taxas de sucesso e de segurança no procedimento.Neste artigo procuramos reunir o conhecimento atual sobre como executar a técnica de aterectomia rotacional. Keywords: Rotational atherectomy, Rotational atherectomy technique, Percutaneous coronary intervention, Coronary calcification, Palavras-chave: Aterectomia rotacional, Técnica de aterectomia rotacional, Intervenção coronária percutânea, Calcificação coronária

Introduction and Objectives: Intravenous loop diuretics are an essential part of acute heart failure management; however, data to guide their use is sparse. Our aim was to compare continuous intravenous infusion of loop diuretics with intravenous bolus administration in terms of efficacy and adverse events in patients admitted with severe acute heart failure. Methods: Over a period of three years, 110 patients were admitted to our cardiac intensive care unit with acute heart failure. Clinical, laboratory and prognostic parameters were compared according to the diuretic strategy used and mortality and readmission for acute heart failure during follow-up were analyzed. Results: Previous medical history was similar in the two groups. At admission, the continuous infusion group met criteria for worse prognosis: lower systolic blood pressure (p=0.011), more severe renal injury (p=0.008), lower left ventricular ejection fraction (p=0.016) and higher incidence of restrictive pattern of diastolic dysfunction (p=0.032). They were more often treated with vasopressors (p=0.003), inotropes (p=0.010), renal support therapy (p=0.003) and non-invasive ventilation (p

Abstract Pemphigus herpetiformis is an autoimmune bullous disease, that combines clinical features of dermatitis herpetiformis and linear IgA bullous dermatosis and immunological characteristics of pemphigus, which makes this disease peculiar and this diagnosis rarely suspected in the first evaluation of the patient. The reported case is of a patient with clinically bullous disease similar to dermatitis herpetiformis, whose multiple biopsies were inconclusive, and only after direct immunofluorescence with a pemphigus pattern (intraepidermal intercellular pattern) the confirmation of the diagnosis was possible.

Pulmonary valve endocarditis is a rare type of infective endocarditis (IE). Streptococcus pneumoniae is a pathogen that is uncommonly associated with IE. A 50 year-old male was referred to us after an incidental echocardiographic finding of a pulmonary valve vegetation. The patient had a recent admission for drainage of a scrotal abscess from which S. pneumoniae was isolated, complicated by hospital acquired pneumonia and pulmonary embolism. Analysis using polymerase chain reaction of the surgically resected mass revealed signs of 16S ribosomal DNA consistent with S. pneumoniae infection. This was an extremely rare case of pneumococcal pulmonary valve IE presenting entirely asymptomatically in the absence of any known risk factors.

Resumo: Introdução: A avaliação do risco isquémico e hemorrágico é fundamental na abordagem dos idosos com síndromes coronárias agudas, mas tem sido pouco estudada. Objetivo: Este estudo pretende avaliar a adequação dos scores GRACE e CRUSADE a doentes com síndrome coronária aguda sem supradesnivelamento‐ST e idade ≥ 80 anos, e identificar os principais preditores de mortalidade intra‐hospitalar e hemorragia major nesta população. Métodos: Foram avaliados 544 doentes com idade ≥ 80 anos com síndrome coronária aguda sem supradesnivelamento‐ST, incluídos no Registo Português de Síndromes Coronárias Agudas. Foram identificados os preditores de mortalidade intra‐hospitalar e de hemorragia major durante o internamento. Criaram‐se modelos preditores destes endpoints, posteriormente comparados com os scores GRACE e CRUSADE, e avaliada a sua adequação à população em estudo. Resultados: A realização de coronariografia associou‐se a redução do risco de mortalidade intra‐hospitalar e não se associou a aumento do risco de hemorragia major (OR 0,2, IC 95% 0,006‐0,49, p = 0,001). A hemorragia major foi preditora independente de mortalidade intra‐hospitalar (OR 10,9, IC 95% 2,36‐50,74, p = 0,002), e associou‐se a comorbilidades e à terapêutica farmacológica instituída. O score GRACE apresentou boa acuidade diagnóstica para mortalidade intra‐hospitalar (AUC 0,75, IC 95% 0,63‐0,87, p

Resumo: Introdução e objetivos: O valor prognóstico da deterioração da função renal é indiscutível nos doentes com insuficiência cardíaca aguda. No contexto nacional sabe‐se pouco acerca do peso relativo da síndrome cardiorrenal no internamento destes doentes. Este trabalho pretende avaliar a prevalência, fatores preditores e consequências desta entidade em doentes internados por insuficiência cardíaca aguda. Métodos: Análise retrospetiva de 155 doentes internados por insuficiência cardíaca aguda. Síndrome cardiorrenal definida como um aumento ≥ a 26,5 umol/L na creatinina sérica relativamente ao valor da admissão. Avaliados e comparados dados clínicos, analíticos e ecocardiográficos. Feito seguimento, referente a mortalidade, aos 30 e 90 dias. Resultados: A síndrome cardiorrenal ocorreu em 46 (29,7%) doentes, 5,4 ± 4,4 dias após a admissão; 66,7% (n = 24) não recuperaram a função renal basal. Associaram‐se ao desenvolvimento desta entidade: idades mais avançadas; antecedentes de insuficiência renal crónica; insuficiência mitral moderada/grave; níveis na admissão mais elevados de ureia, creatinina e troponina I; e mais baixos de taxa de filtração glomerular. Os doentes com síndrome cardiorrenal tiveram internamentos mais longos; necessitaram de doses diárias máximas de furosemida mais elevadas; mais frequentemente necessitaram de inotrópicos e de terapêutica de substituição renal. A sua mortalidade no internamento e aos 30 dias foi superior, sendo a síndrome cardiorrenal um fator preditor independente de mortalidade intra‐hospitalar. Conclusões: A disfunção renal é comum em doentes com insuficiência cardíaca aguda, com impacto claramente negativo no prognóstico, devendo a prevenção da lesão renal ser um objetivo primário passando por novas estratégias terapêuticas e identificação de novos biomarcadores. Abstract: Introduction and Objective: Worsening renal function has an unquestionably negative impact on prognosis in patients with acute heart failure (HF). In Portugal there is little information about the importance of this entity in HF patients admitted to hospital. The objective of this work was to assess the prevalence of cardiorenal syndrome and to identify its key predictors and consequences in patients admitted for acute HF. Methods: This was a retrospective study of 155 patients admitted for acute HF. Cardiorenal syndrome was defined as an increase in serum creatinine of ≥26.5 μmol/l. Clinical, laboratory and echocardiographic parameters were analyzed and compared. Mortality was assessed at 30 and 90 days. Results: Cardiorenal syndrome occurred in 46 patients (29.7%), 5.4±4.4 days after admission; 66.7% (n=24) did not recover baseline creatinine levels. The factors associated with cardiorenal syndrome were older age, chronic renal failure, moderate to severe mitral regurgitation, higher admission blood urea nitrogen, creatinine and troponin I, and lower glomerular filtration rate. Patients who developed cardiorenal syndrome had longer hospital stay, were treated with higher daily doses of intravenous furosemide, and more often required inotropic support and renal replacement therapy. They had higher in‐hospital and 30‐day mortality, and multivariate analysis identified cardiorenal syndrome as an independent predictor of in‐hospital mortality. Conclusions: Renal dysfunction is common in acute HF patients, with a negative impact on prognosis, which highlights the importance of preventing kidney damage through the use of new therapeutic strategies and identification of novel biomarkers. Palavras‐chave: Insuficiência cardíaca aguda, Síndrome cardiorrenal, Prognóstico, Keywords: Acute heart failure, Cardiorenal syndrome, Prognosis

Resumo: A insuficiência cardíaca aguda na estenose aórtica grave com compromisso da função sistólica global tem um prognóstico reservado, com opções terapêuticas limitadas.Os autores descrevem o caso clínico de um doente admitido por enfarte agudo do miocárdio sem supradesnivelamento de ST, no qual o estudo complementar revelou estenose aórtica grave, com boa função ventricular esquerda, e doença coronária de 2 vasos. O desenvolvimento de choque cardiogénico, com compromisso grave da função sistólica global, ao quarto dia de internamento, alterou a estratégia terapêutica, optando-se por realizar valvuloplastia aórtica com balão e revascularização miocárdica percutânea completa, com vista a posterior referenciação para cirurgia valvular. Após a alta, apresentou novo quadro de choque cardiogénico em contexto de insuficiência cardíaca aguda e paragem cardiorrespiratória. Por dificuldade na extubação, iniciou perfusão de levosimendan, com franca melhoria clínica e ecocardiográfica. Posteriormente, o doente foi submetido com sucesso a implantação de prótese valvular aórtica.Este caso demonstra o desafio que caracteriza a estabilização e o tratamento destes doentes. A valvuloplastia aórtica com balão e o levosimendan foram eficazes e seguros no tratamento da insuficiência cardíaca aguda e permitiram estabelecer a ponte para a cirurgia. Abstract: Acute heart failure in patients with severe aortic stenosis and left ventricular systolic dysfunction is well known for its dire prognosis and limited therapeutic options.The authors describe the case of a man admitted for non-ST-elevation myocardial infarction. Diagnostic exams revealed severe aortic stenosis, with good left ventricular systolic function, and two-vessel coronary artery disease. The development of cardiogenic shock with left ventricular systolic dysfunction on day four led to changes in the therapeutic strategy. Percutaneous aortic balloon valvuloplasty coupled with complete myocardial revascularization was performed with a view to future surgical intervention. After discharge, the patient was readmitted with acute pulmonary edema, cardiogenic shock and cardiopulmonary arrest. Ventilator weaning was not possible due to acute heart failure and so it was decided to administer levosimendan, which resulted in substantial clinical and echocardiographic improvement. The patient subsequently underwent successful aortic valve replacement.This case highlights the challenge that characterizes the management of patients with concomitant coronary artery disease, left ventricular systolic dysfunction and severe aortic stenosis. Percutaneous aortic balloon valvuloplasty and levosimendan were safe and effective in the treatment of acute heart failure, acting as a bridge to surgery. Palavras-chave: Estenose aórtica grave, Choque cardiogénico, Valvuloplastia aórtica com balão, Levosimendan, Keywords: Severe aortic stenosis, Cardiogenic shock, Aortic balloon valvuloplasty, Levosimendan

Resumo: Os autores apresentam um caso de amiloidose sistémica com envolvimento cardíaco e discutem a importância de um elevado índice de suspeição para o diagnóstico, os meios de diagnóstico e as opções terapêuticas à luz do conhecimento atual. Homem de 78 anos, com antecedentes de doença renal crónica e fibrilhação auricular, admitido por insuficiência cardíaca aguda de etiologia desconhecida. O ecocardiograma transtorácico mostrou ventrículo esquerdo não dilatado, com compromisso severo da função sistólica global com overlap fenotípico de miocardiopatia hipertrófica e restritiva. Após estudo complementar alargado, o diagnóstico definitivo de amiloidose foi obtido por biópsia da gordura abdominal. Abstract: The authors present a case of systemic amyloidosis with cardiac involvement. We discuss the need for a high level of suspicion to establish a diagnosis, diagnostic techniques and treatment options. Our patient was a 78‐year‐old man with chronic renal disease and atrial fibrillation admitted with acute decompensated heart failure of unknown cause. The transthoracic echocardiogram revealed severely impaired left ventricular function with phenotypic overlap between hypertrophic and restrictive cardiomyopathy. After an extensive diagnostic workup, which included an abdominal fat pad biopsy, the final diagnosis was amyloidosis. Palavras‐chave: Amiloidose, Miocardiopatia hipertrófica, Miocardiopatia restritiva, Insuficiência cardíaca, Keywords: Amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Heart failure

Resumo: Introdução: O encerramento percutâneo (EP) de defeitos do septo interauricular (SIA) é uma técnica comprovadamente eficaz para o tratamento da comunicação interauricular (CIA) e prevenção de embolia paradoxal em doentes com foramen ovale patente (FOP). A monitorização com ecocardiograma transesofágico (ETE) é o método habitualmente utilizado mas o ecocardiograma intracardíaco (EIC) constitui uma alternativa prática e segura para o controlo imagiológico destes procedimentos. Objetivo: Apresentar a experiência de um centro no EP de CIA e FOP guiado exclusivamente por EIC. Métodos: Analisámos retrospetivamente uma série de doentes consecutivos com CIA ou FOP submetidos a EP sob controlo por EIC no período de janeiro de 2008 a dezembro de 2010. Foram todos avaliados clínica, eletro e ecocardiograficamente à data da alta e após o 1.°, 3.°, 6.° e 12.° mês para excluir shunt residual (SR) e malaposição do dispositivo. Resultados: Um total de 127 doentes (46,6 ± 12,2 anos; 71% de mulheres) foi submetido a EP de CIA ou FOP durante o referido período. A utilização do EIC durante o EP permitiu a colocação eficaz dos dispositivos em 100% dos casos, com uma reduzida taxa de complicações, dispensando a utilização adicional de outras técnicas de imagem durante os procedimentos. Conclusão: O EIC fornece informação anatómica detalhada da CIA/FOP e estruturas cardíacas adjacentes, facilitando assim os procedimentos de intervenção. Elimina os inconvenientes do ETE e possibilita ao cardiologista de intervenção controlar os vários aspetos do procedimento sem necessitar de apoio ecocardiográfico adicional. Abstract: Introduction: Device closure of interatrial communications has become a well-established technique to treat left-to-right shunt associated with atrial septal defect (ASD) and to prevent paradoxical embolism in patients with patent foramen ovale (PFO). Guidance by transesophageal echocardiography (TEE) is the standard practice but intracardiac echocardiography (ICE) is a feasible and safe alternative for monitoring these procedures. Objectives: To report our experience in the percutaneous closure of ASD and PFO guided by ICE. Methods: We retrospectively reviewed all patients with ASD or PFO who underwent percutaneous closure guided exclusively by ICE between January 2008 and December 2010. All patients were followed clinically with regular echocardiographic evaluation (at discharge, one month, three, six and twelve months) to exclude residual shunt and device malposition. Results: A total of 127 patients (mean age 46.6±12.2 years; 71% female) underwent transcatheter device closure of ASD or PFO during the study period. Device deployment with ICE monitoring was 100% successful, with a low rate of complications and eliminating the need for additional imaging techniques. Conclusions: ICE provides anatomical detail of ASD/PFO and cardiac structures, facilitating congenital cardiac interventional procedures. It eliminates the major drawbacks associated with TEE and enables the interventional cardiologist to control all aspects of the procedure without relying on additional echocardiographic support. Palavras-chave: Ecocardiograma intracardíaco, Defeitos do septo interauricular, Encerramento percutâneo, Keywords: Intracardiac echocardiography, Atrial septal defects, Transcatheter device closure

Resumo: Introdução: A intervenção coronária percutânea (ICP) de lesões gravemente calcificadas constitui um desafio para o cardiologista de intervenção, estando associada a maior taxa de reestenose e necessidade de reintervenção na lesão alvo. A preparação adequada das lesões pela técnica de aterectomia rotacional (AR), seguida da colocação de stent farmacoativo, tem demonstrado resultados favoráveis. Objectivo: Reportar a experiência recente do nosso centro na utilização de AR para o tratamento de lesões coronárias complexas e calcificadas. Material e métodos: Analisámos retrospetivamente uma série de doentes consecutivos submetidos a ICP com recurso a AR no período de Janeiro de 2009 a Dezembro de 2010. Foram incluídos 42 doentes (dts), dos quais 65% tinham sido recusados para cirurgia por apresentarem múltiplas comorbilidades ou anatomia coronária desfavorável. A AR foi realizada utilizando o sistema Rotablator® da Boston Scientific. O procedimento foi realizado ad-hoc em 50% dos casos e utilizou-se a via radial em 35% dos doentes. Foi avaliada a ocorrência de eventos no pós-procedimento imediato e realizado follow-up (FUP) com avaliação de eventos cardiovasculares major após a alta hospitalar – morte cardiovascular (MCV), enfarte agudo do miocárdio, reintervenção na lesão alvo (RLA) e recorrência de angina (RA). Resultados: De um total de 1650 ICP realizadas durante um período de 23 meses desde Janeiro de 2009, 42 (2,5%) envolveram a técnica de AR. Num total de 42 doentes submetidos a AR (70,3 ± ,1 anos, 67% homens, 55% de diabéticos), 3 apresentavam doença (DC) de tronco comum (TC), 6 dts DC de 3 vasos, 18 dts DC de 2 vasos e 15 dts DC de um vaso. As lesões tratadas (71% > 20 mm) classificaram-se como tipo C em 69% e oclusão total crónica em 4%. Intervencionou-se a descendente anterior em 56% dos casos. Utilizou-se uma média de 1,3 olivas por lesão e implantaram-se no total 69 stents, 81% dos quais eram farmacoativos. Verificou-se RA em 3 dts, RLA em apenas um dt e MCV em 2 dts. Em 83% dos doentes verificou-se melhoria da classe funcional. Conclusão: A utilização da AR na ICP de lesões gravemente calcificadas, seguida de colocação de stent, é um procedimento seguro e com uma elevada taxa de sucesso, permitindo a revascularização coronária a um maior número de doentes. Abstract: Introduction: Percutaneous coronary intervention (PCI) of heavily calcified lesions is a challenge for the interventional cardiologist and is associated with a high rate of restenosis and target lesion revascularization (TLR). Adequate lesion preparation by rotational atherectomy followed by drug-eluting stent implantation has shown favorable results. Objective: To report the recent experience of our center with rotational atherectomy (RA) of complex and heavily calcified coronary lesions. Methods: We retrospectively analyzed consecutive patients who underwent PCI with RA in our center between January 2009 and December 2010. A total of 42 patients were included, 65% of whom had been previously refused for coronary artery bypass grafting due to unfavorable coronary anatomy or high surgical risk. RA was performed using the standard Boston Scientific Rotablator® system. The procedure was performed ad-hoc in 50% of patients and transradial access was used in 35%. Data were collected on immediate post-procedural events and major cardiac events during follow-up – cardiovascular death, myocardial infarction, TLR and recurrent angina. Results: Of 1650 PCIs performed in a 23-month period from January 2009, 42 (2.5%) involved RA, a total of 42 patients (mean age 70.3±10.1 years, 67% male, 55% diabetic), three of whom had left main disease, six had three-vessel disease, 18 had two-vessel disease and the other 15 had single-vessel disease. Of the lesions treated, 71% were >20 mm long and classified in 69% of cases as type C according to the ACC/AHA lesion classification, 4% being chronic total occlusions. The left anterior descending artery was treated in 56% of the procedures. The mean number of burrs used per lesion was 1.3 and a total of 69 stents were implanted, 81% of which were drug-eluting. During follow-up three patients had recurrent angina, one required TLR and two died due to a cardiovascular event. There was significant clinical improvement in 83% of patients. Conclusions: This study demonstrates that rotational atherectomy followed by stenting in heavily calcified lesions can nowadays be performed with high success rates and few complications, extending the possibility of coronary revascularization to a greater number of patients. Palavras-chave: Calcificação coronária, Intervenção coronária percutânea, Aterectomia rotacional, Stents farmacoativos, Keywords: Coronary calcification, Percutaneous coronary intervention, Rotational atherectomy, Drug-eluting stents

Resumo: A aterosclerose é uma doença arterial difusa, com distribuição descontínua, cujo significado fisiopatológico nem sempre é linear. A partir de um caso paradigmático faz-se a revisão das técnicas actualmente disponíveis na sala de hemodinâmica, para este fim. Trata-se de um paciente do sexo masculino, com aterosclerose coronária difusa conhecida, previamente submetido a intervenção percutânea, que realiza coronariografia após descompensação por edema agudo do pulmão, com deterioração da função ventricular esquerda e documentação de isquémia em cintigrafia de perfusão miocárdica. No cateterismo foi observada uma lesão de significado angiográfico intermédio na artéria descendente anterior, em território diferente do documentado por cintigrafia. Procedeu-se primeiro à avaliação do significado da lesão quer anatómico, através de ultrassonografia intravascular, quer funcional, através da determinação da reserva coronária com guia de pressão. Revemos a fisiopatologia desta doença, parâmetros da sua avaliação global, focando estas técnicas per-cateterismo, suas indicações e contribuição no diagnóstico e terapêutica da aterosclerose coronária. Abstract: Atherosclerosis is a diffuse arterial disease, discontinuously distributed, that is not always linear in its pathophysiological significance. Starting with a paradigmatic clinical case, we review the hemodynamic techniques that are currently available for the assessment of this condition. We present the case of a male patient with known diffuse atherosclerotic disease, who had previously undergone angioplasty, in which angiography was repeated after acute pulmonary edema, with worsening left ventricular function and local ischemia documented by myocardial scintigraphy. The angiogram showed an intermediate lesion in the left anterior descending artery, not related to the ischemic territory. The signifi cance of the lesion was evaluated anatomically with intravascular ultrasound, and functionally by determining fractional flow reserve with a pressure wire. We review the pathophysiology of the disease and the parameters used for overall evaluation, focusing on catheterization laboratory techniques and their indications and contribution to the diagnosis and treatment of coronary atherosclerosis. Palavras-chave: Aterosclerose, Guia de pressão, IVUS, Angiografia, Keywords: Atherosclerosis, Pressure wire, IVUS, Angiography

Resumo: O cancro do pulmão é considerado uma doença relacionada com o meio ambiente, consequência da exposição a agentes mutagénicos, nomeadamente os presentes no fumo do tabaco. O gene CYP1A1 codifica a enzima aril hidrocarboneto hidroxilase (AHH), da fase I, do sistema multienzimático do citocromo P450, que desempenha uma função preponderante na bioactivação dos procarcinogénios do tabaco. Dois polimorfismos do CYP1A1, m1 (transição T6235C) e m2 (transição A4889G), estão associados a uma maior actividade enzimática, tendo sido referidos como factores genéticos de susceptibilidade para o cancro do pulmão.Este trabalho teve como objectivo verificar esta possível associação em 175 doentes com cancro do pulmão e 217 controlos da Região Centro de Portugal, por RFLP (polimorfismo de comprimento de fragmentos de restrição).Foi encontrada a seguinte distribuição para as frequências alélicas: 0.12 e 1.14, para os alelos mutados C e G, respectivamente, na população controlo. Os resultados não revelaram significado estatístico quando comparados com a distribuição encontrada na população de doentes. Relativamente à distribuição genotípica, a situação foi semelhante, não se registando significado estatístico, mesmo quando foram considerados genótipos de alto risco. Tal como noutras populações de diferente origem étnica, parece existir desequilíbrio de ligação para ambos os polimorfimos na população-controlo. Concluímos que nesta amostra de população portuguesa os polimorfismos m1 e m2 de CYP1A1 são particularmente raros, parecendo não existir relevância clínica nem associação à susceptibilidade ao cancro do pulmão.Rev Port Pneumol 2010; XVI (1): 89-98 Abstract: Lung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer.The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer pa tients and 217 non-cancer patients from Portugalâs midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay. The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer.Rev Port Pneumol 2010; XVI (1): 89-98 Palavras-chave: Cancro do pulmão, tabaco, citocromo p450, CYP1A1, desequilíbrio de ligação, Key-words: Lung cancer, smoking, cytochrome P450, CYP1A1, linkage disequilibrium

Lung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer. The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer patients and 217 non-cancer patients from Portugal’s midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay. The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer.O cancro do pulmão é considerado uma doença relacionada com o meio ambiente, consequência da exposição a agentes mutagénicos, nomeadamente os presentes no fumo do tabaco. O gene CYP1A1 codifica a enzima aril hidrocarboneto hidroxilase (AHH), da fase I, do sistema multienzimático do citocromo P450, que desempenha uma função preponderante na bioactivação dos procarcinogénios do tabaco. Dois polimorfismos do CYP1A1, m1 (transição T6235C) e m2 (transição A4889G), estão associados a uma maior actividade enzimática, tendo sido referidos como factores genéticos de susceptibilidade para o cancro do pulmão. Este trabalho teve como objectivo verificar esta possível associação em 175 doentes com cancro do pulmão e 217 controlos da Região Centro de Portugal, por RFLP (polimorfismo de comprimento de fragmentos de restrição). Foi encontrada a seguinte distribuição para as frequências alélicas: 0.12 e 1.14, para os alelos mutados C e G, respectivamente, na população controlo. Os resultados não revelaram significado estatístico quando comparados com a distribuição encontrada na população de doentes. Relativamente à distribuição genotípica, a situação foi semelhante, não se registando significado estatístico, mesmo quando foram considerados genótipos de alto risco. Tal como noutras populações de diferente origem étnica, parece existir desequilíbrio de ligação para ambos os polimorfimos na população-controlo. Concluímos que nesta amostra de população portuguesa os polimorfismos m1 e m2 de CYP1A1 são particularmente raros, parecendo não existir relevância clínica nem associação à susceptibilidade ao cancro do pulmão.

Departing from a material cultural studies anthropology, the paper takes film production and consumption as part of representational systems, analysing the city image of Porto as represented in six Portuguese films of the 20 th century. Looking at what is filmed and how it is filmed, it highlights the main themes found in this city image production and discusses the role of film in the construction of a collective memory.

Introduction: Minimal hepatic encephalopathy refers to a mild neurocognitive impairment not detectable by clinical examination that can be present in cirrhotic patients. Aim: To determine the prevalence of minimal hepatic encephalopathy in a secondary healthcare center in Northern Portugal. Material and Methods: A cross-sectional study was conducted. Cirrhotic outpatients were included. Exclusion criteria: overt hepatic encephalopathy, illiteracy, active alcohol consumption, psychotropic drug use and therapy with lactulose. The presence of minimal hepatic encephalopathy was defined as a value ≤ -4 on the Psychometric Hepatic Encephalopathy Score, calculated according to the Portuguese norms. Variables analyzed: etiology and severity of liver disease and venous blood ammonia concentration. p values < 0.05 were considered significant. Results: From the 102 patients who were evaluated, 41 were included: 31 males, mean age 57 ± 10 years, mean education 5 ± 2 years, 31 in Child-Pugh class A, mean MELD score 6 ± 3. Minimal hepatic encephalopathy was diagnosed in 14 (34%) patients. The presence of minimal hepatic encephalopathy was unrelated to severity of liver disease. Despite being more elevated, the mean venous ammonia concentration in minimal hepatic encephalopathy patients was not statistically different from the mean venous ammonia concentration in non-minimal hepatic encephalopathy patients (48.5 ± 13.3 vs. 45.6 ± 15.6 μmol/L, p = 0.555). Discussion: The prevalence of minimal hepatic encephalopathy reported is in accordance with the international published data. Conclusion: Minimal hepatic encephalopathy is a frequent condition that is present early in the course of cirrhosis, even in compensated cirrhotic patients. Therefore, this hidden entity should be actively pursued and managed properly.

Resumo: Os autores apresentam o caso de uma doente com os diagnósticos de miocardiopatia hipertrófica e estenose aórtica, na qual foi identificada a presença de um gradiente elevado ao nível do trato de saída do ventrículo esquerdo. O reconhecimento da patologia responsável pela sintomatologia foi desafiante, com envolvimento de várias técnicas de imagem, tendo sido fundamental a contribuição do ecocardiograma transesofágico. O diagnóstico final de estenose aórtica severa conduziu à referenciação para cirurgia de substituição valvular, com sucesso. A presença destas duas patologias em simultâneo num mesmo doente é conhecida, embora incomum. A sua combinação cria importantes desafios diagnósticos e terapêuticos, os quais serão objeto de discussão neste artigo. Abstract: The authors report the case of a patient diagnosed with both hypertrophic cardiomyopathy and aortic stenosis. Due to clinical deterioration, additional investigation was performed, and a high left ventricular outflow tract gradient was identified. Correct identification of the condition causing the symptoms was challenging, and involved several imaging techniques, the contribution of transesophageal echocardiography being crucial. The final diagnosis of severe aortic stenosis led to successful valve replacement surgery. The presence of these two conditions in the same patient has been documented, although it is uncommon. This association poses particular diagnostic and therapeutic challenges, which are discussed in this paper. Palavras‐chave: Estenose aórtica, Cardiomiopatia hipertrófica, Obstrução do trato de saída do ventrículo esquerdo, Ecocardiografia, Ecocardiografia Doppler, Keywords: Aortic valve stenosis, Hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Echocardiography, Doppler echocardiography

Resumo: Os autores reportam o caso de um doente de 53 anos, com diagnóstico prévio de estenose mitral ligeira, admitido por agravamento do cansaço. O ecocardiograma (Eco) transtorácico, limitado pela janela acústica, mostrava válvula mitral com ecogenicidade aumentada a nível do anel, deficiente observação dos folhetos e área valvular estimada de 1,8 cm2 por tempo de hemipressão. No entanto, a identificação de elevados gradientes transmitral médio e ventrículo direito/aurícula direita (atingindo respetivamente 39 e 117 mmHg) intrigou os autores. No Eco transesofágico foi observada estrutura hiperecogénica sobre o anel mitral a condicionar obstrução grave (área do orifício efetivo de 0,7 cm2), o que levantou a suspeita de anel supramitral. Esta foi confirmada durante a cirurgia. Após a ressecção do anel e implantação de prótese mecânica, verificou‐se uma franca melhoria clínica e normalização do gradiente aurícula esquerda (AE)/ventrículo esquerdo (VE).O anel supramitral é uma causa invulgar de estenose mitral congénita, caracterizado pela presença de uma membrana fibrosa adjacente à face auricular da válvula mitral. Existem poucos casos reportados na literatura, sendo a maioria descritos em idade pediátrica e em associação a outras anomalias congénitas. O diagnóstico é desafiante, dado que o anel raramente é visualizado nos exames complementares. Uma elevada suspeita clínica e a integração dos vários achados ecocardiográficos são aspetos fundamentais para a sua identificação, permitindo o tratamento adequado com bons resultados a longo prazo. Abstract: The authors report the case of a 53‐year‐old man, with a long‐standing history of mild mitral stenosis, admitted for worsening fatigue. Transthoracic echocardiography (limited by poor image quality) showed mitral annular calcification, leaflets that were difficult to visualize and an estimated mitral valve area of 1.8 cm2 by the pressure half‐time method. However, elevated mean transmitral and right ventricle/right atrium gradients were identified (39 and 117 mmHg, respectively). This puzzling discrepancy in the echocardiographic findings prompted investigation by transesophageal echocardiography, which revealed an echogenic structure adjacent to the mitral annulus, causing severe obstruction (effective orifice area 0.7 cm2). The suspicion of supravalvular mitral ring was confirmed during surgery. Following ring resection and mitral valve replacement there was significant improvement in the patient's clinical condition and normalization of the left atrium/left ventricle gradient.Supravalvular mitral ring is an unusual cause of congenital mitral stenosis, characterized by an abnormal ridge of connective tissue on the atrial side of the mitral valve, which often obstructs mitral valve inflow. Few cases have been reported, most of them in children with concomitant congenital abnormalities. Diagnosis of a supravalvular mitral ring is challenging, since it is very difficult to visualize in most diagnostic tests. It was the combination of clinical and various echocardiographic findings that led us to suspect this very rare condition, enabling appropriate treatment, with excellent long‐term results. Palavras‐chave: Anel supramitral, Anel mitral supravalvular, Estenose mitral, Estenose mitral congénita, Estenose mitral supravalvular, Keywords: Supravalvular ring, Supravalvular mitral ring, Mitral stenosis, Congenital mitral stenosis, Supravalvular mitral stenosis

A utilização de jogos em contexto educativo tem sido alvo de várias investigações e, se forem aplicados considerando os conteúdos e os objetivos, os jogos que recorrem à tecnologia reúnem inúmeras vantagens ao nível da motivação e do interesse dos alunos. Neste sentido, desenvolveu-se um estudo com recurso ao jogo “Fazenda Feliz”, disponível gratuitamente na Internet, com alunos do 1º CEB do 4º ano de escolaridade, por se considerar uma ferramenta capaz de permitir a exploração de conteúdos da área disciplinar de Estudo do Meio. Posteriormente selecionaram-se os objetivos que se pretendiam explorar especificamente relacionados com a agricultura e a criação de gado, temas integrados no “Bloco 6 - À Descoberta das Inter-relações entre a Natureza e a Sociedade”. Como forma de recolha de dados, recorreu-se à aplicação de um questionário, uma ficha de trabalho e registos num diário de bordo, que posteriormente foram submetidos a análise. A utilização do jogo no contexto educativo descrito motivou os discentes, fazendo com que estivessem visivelmente atentos e empenhados na realização das tarefas. O jogo revelou-se uma excelente ferramenta para o desenvolvimento de conceitos relacionados com os conteúdos e, apesar de se tratar de uma fazenda virtual, contribuiu para a aprendizagem dos alunos.

Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by abnormalities of the GLA gene, which encodes the enzyme α-galactosidase A. A deficiency of this enzyme leads to the lysosomal accumulation of glycosphingolipids, which may cause left ventricular hypertrophy that is typically concentric and symmetric.We present the case of a 60-year-old woman with symptoms of dyspnea, atypical chest pain and palpitations, in whom a transthoracic echocardiogram revealed an apical variant of hypertrophic cardiomyopathy. Analysis of specific sarcomeric genetic mutations was negative. The patient underwent a screening protocol for Anderson-Fabry disease, using a dried blood spot test, which was standard at our institution for patients with left ventricular hypertrophy. The enzymatic activity assay revealed reduced α-galactosidase A enzymatic activity. Molecular analysis identified a missense point mutation in the GLA gene (p.R118C).This case report shows that Anderson-Fabry disease may cause an apical form of left ventricular hypertrophy. The diagnosis was only achieved because of systematic screening, which highlights the importance of screening for Anderson-Fabry disease in patients with unexplained left ventricular hypertrophy, including those presenting with more unusual patterns, such as apical variants of left ventricular hypertrophy. This case also supports the idea that the missense mutation R118C is indeed a true pathogenic mutation of Anderson-Fabry disease. Resumo: A doença de Anderson-Fabry é uma doença do lisossoma associada ao cromossoma X, causada por alterações no gene GLA que codifica a enzima α-galactosidase A. A deficiência desta enzima leva à acumulação de glicosfingolípidos, podendo causar hipertrofia ventricular esquerda, tipicamente concêntrica e simétrica.Apresentamos o caso de uma mulher de 60 anos com queixas de dispneia, dor torácica atípica e palpitações, que realizou um ecocardiograma transtorácico que mostrou uma variante apical de miocardiopatia hipertrófica. A pesquisa de mutações nos genes das proteínas do sarcómero foi negativa. A doente foi incluída num protocolo de rastreio de doença de Anderson-Fabry, usando o teste da gota de sangue seca, para doentes com miocardiopatia hipertrófica. Foi documentada uma redução da atividade enzimática da enzima α-galactosidase A. A análise molecular identificou uma mutação missense do gene GLA (p.R118C).Este caso clínico mostra que a doença de Anderson-Fabry se pode apresentar com um padrão de hipertrofia ventricular apical. Este diagnóstico apenas foi feito devido ao rastreio sistemático realizado em todos os doentes com hipertrofia ventricular esquerda de causa não esclarecida, incluindo mesmo os doentes com padrões de hipertrofia menos usuais. Este caso clínico também suporta a ideia de que a mutação missense R118C é de facto uma mutação patogénica de doença de Anderson-Fabry. Keywords: Apical hypertrophic cardiomyopathy, Echocardiography, Genetics, Anderson-Fabry disease, Screening, Palavras-chave: Miocardiopatia hipertrófica apical, Ecocardiograma, Genética, Doença de Anderson-Fabry, Rastreio

Estagiários do Internato Rural da Faculdade de Medicina da UFMG realizaram levantamento da prevalência da esquistossomose mansoni e de parasitoses intestinais em 20 escolas da área rural do município de Jaboticatubas, MG. Foi feita avaliação sumária das condições de habitação e saneamento, e os escolares foram submetidos a exame clínico e parasitológico de fezes. Observou-se que 15,43% dos escolares apresentaram ovos de S. mansoni nas fezes, o que representou a parasitose de maior prevalência. Foram encontrados 13,76% de exames com a presença de G. lamblia; 12,89% de S. stercoralis; 11,13% de A. lumbricoides; 9,96% de ancilostomideos; 9,57% de E. histolytica, tendo os outros parasitas apresentado prevalências inferiores às citadas. Todas as crianças que apresentaram ovos de parasitas nas fezes foram tratadas. Os resultados encontrados mostram que a esquistossomose mansoni é um grave problema de saúde pública e que medidas na área do saneamento básico se fazem necessárias para controle da endemia.Students from a Rural Boarding house of UFMG School of Medicine performed a survey of prevalence of schistosomiasis mansoni and other intestinal parasites in 20 rural schools in Jaboticatubas, MG. An evaluation of house and sanitation conditions was made and stool parasitological examinations were realised in all school children. It was noticed that 15.43% of the children presented S. mansoni's ova in stool - that was the most prevalent parasite. From the examinations we verify 13.76% positive cases for G. lamblia; 12.89% for S. stercoralis; 11.13% for A. lumbricoides; 9.96% for hookworms; 9.57% for E. histolytica. The other parasites appeared with lower prevalence. All the children that presented parasite's ova in stool received treatment. The result that was found shows that schistosomiasis mansoni is a very serious problem of public health and basic sanitation actions are necessary to the endemic control.

Mark Rice, Making Machu Picchu: The Politics of Tourism in Twentieth Century Peru (Chapel Hill, NC: University of North Carolina Press, 2018), xvi + 253 pp., ISBN 978-1-4696-4353-3, S28.75 (paperback). [...]

Valerio Simoni. Tourism and Informal Encounters in Cuba (Oxford; Berghahn, 2016), 282+xvi pp, ISBN 978-1-78533-833-5, $27.95 (paperback). If ever there were a book needed to testify to the maturity of [...]