Abstract Background: Coarctation of the aorta is a congenital segmental narrowing of the aortic arch with severe hemodynamic repercussions and increased cardiovascular mortality. Early surgical correction and life-time echocardiographic follow-up must be performed to improve prognosis. However, this goal has been challenged by high rates of underdiagnosis, which delay surgical correction, and by recoarctation in up to one third of operated patients. Objectives: The objectives of this study were: (i) to register the frequency of common clinical signs at diagnosis of coarctation of the aorta; (ii) to describe the course of echocardiographic parameters before and during the follow-up of coartectomized subjects; (iii) to analyze the clinical prognosis of patients according to baseline characteristics, occurrence of recoarctation and associated malformations. Methods: Case-series of 72 patients coarctectomized between June 1996 and November 2016 in a tertiary care hospital. Clinical, echocardiographic and surgical variables were considered. All patients were submitted to coarctectomy by posterolateral thoracotomy and end-to-end anastomosis. Data were classified as parametric or non-parametric by Kolmogorov-Smirnov test. Parametric data were expressed as mean and standard deviation, and non-parametric data as median and interquartile range. Continuous variables were analyzed using paired t-tests, and categorical variables were compared by chi-square test. For all analysis, a p-value of less than 0.05 was considered statistically significant. Statistical analysis was performed using SPSS, version 20.0 (IBM, Chicago, IL, USA). Results: The mean follow-up time was 5.8 years (range: 0-20 years). At diagnosis, most patients had heart murmur (88%), non-palpable pulse in the lower limbs (50%), left ventricular hypertrophy (78%), and bicuspid aortic valve (33%), with a mean aortic peak gradient of 55 mmHg. After surgical correction, those without recoarctation were less symptomatic (60 vs 4.5%; p < 0.001), had lower aortic peak gradient (54 ± 3.8 vs 13 ± 0.8; p = 0.01) and left ventricle mass (95 ± 9.2 vs. 63 ± 11; p = 0.01), and the most common complications were late hypertension (39.2%), and recoarctation (27.6%). Recoarcted patients did not show improvement of neither clinical nor echocardiographic variables. Age at repair and bicuspid aortic valve groups had comparable results with controls. Surgical procedure was safe; mean time of hospitalization was 10 days and mean surgery time 2.3 hours. Conclusions: Coarctectomy improves cardiac symptoms and left ventricular hypertrophy, with a slight effect on the incidence of hypertension. Recoarctation occurs in one-third of patients and draws attention for the need of lifelong surveillance by echocardiography.

Abstract Mucopolysaccharidoses (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Clinical observations suggest a health-related impairment in quality of life in patients with MPS. Professionals with extensive experience in the care of patients with inborn errors of metabolism, such as MPS, held a meeting in April 2017 to discuss and propose recommendations for the evaluation and management of quality of life in MPS patients in Latin America. In the light of this scenario, the present work summarizes the content of the discussions and presents the recommendations produced at the meeting. The panel had suggested the use of the following tools for the assessment of health-related quality of life (HRQoL): Children's Health Assessment Questionnaire (CHAQ) for children and patients unable to express their feelings, Health Assessments Questionnaire (HAQ) and EuroQol 5 Domains (EQ-5D) scales for adult patients. Based on the scores verified in these scales, the panel proposes interventions that aim reducing the impairment of the quality of life in patients with MPS disorders.

INTRODUÇÃO: Pacientes com doença arterial obstrutiva periférica (DAOP) e claudicação intermitente (CI) apresentam prejuízo no desempenho de caminhada e alterações nos parâmetros espaço-temporais da marcha, mesmo na ausência de dor. OBJETIVO: Analisar os parâmetros espaço-temporais da marcha de pacientes com DAOP e CI participantes de programa de reabilitação. MÉTODOS: A amostra foi constituída por 12 pacientes com DAOP e CI, sendo 75% do sexo masculino e idade média de 63,3 ± 8,6 anos. Todos os pacientes participavam de programa de reabilitação e apresentavam melhora no desempenho de caminhada após os tratamentos; sete foram avaliados em longo prazo (de seis a 24 meses) e cinco em curto prazo (dois meses). Velocidade, comprimento da passada e cadência foram analisados antes e logo após o início da claudicação em pista de 6m de papel. A claudicação foi induzida por meio de caminhada em esteira ergométrica. As avaliações foram realizadas ao final dos tratamentos e analisadas inter e intragrupos. RESULTADOS: Velocidade de marcha (1,06m/s ± 0,29 vs 1,10m/s ± 0,06), comprimento da passada (1,34m ± 0,27 vs 1,33m ± 0,11) e cadência (93,81 passos/min ± 7,20 vs 99,84 passos/min ± 8,99) foram similares entre os grupos tratados em curto e em longo prazos (p > 0,05). Na avaliação intragrupos, ocorreu diminuição significativa no comprimento da passada dos pacientes tratados em curto prazo após a indução da claudicação (1,34m ± 0,27 vs 1,09m ± 0,03), com p = 0,05. CONCLUSÃO: Não ocorreram diferenças significativas nos parâmetros espaço-temporais da marcha entre os grupos. As características da marcha persistem, inclusive na ausência da dor e com a melhora do desempenho de caminhada, em pacientes participantes de programa de reabilitação.

INTRODUCTION: Patients with peripheral obstructive arterial disease (POAD) and intermittent claudication (IC) present difficulty in gait performance and alterations in the spatio-temporal parameters of gait, even in the absence of pain. AIM: to assess the spatio-temporal of gait parameters of patients with POAD and IC participants in a rehabilitation program. METHODS: The sample was composed of 12 patients with POAD and IC, being 75% males and mean age of 63.3 8.6 years. All patients participated in a rehabilitation program and presented gait improvement after treatments; seven patients were long-term assessed (from six to 24 months) and five patients were short-term assessed (two months). Velocity, step length and cadence were assessed before and immediately after claudication began on a 6-m paper track. Claudication was induced by gait on treadmill. Evaluations were performed at the end of the treatment and inter and intra-groups assessment was carried out. RESULTS: Gait velocity (1.06 m/s 0.29 vs 1.10m/s 0.06) step length (1.34 m 0.27 vs 1.33m 0.11) and cadence (93.81 steps/min 7.20 vs 99.84 steps/min ± 8.99) were similar between groups short and long-term treated (p> 0.05). In intragroup assessment, significant decrease was observed in the step length of patients short-term treated after claudication induction (1.34m ± 0.27 vs 1.09m ± 0.03) with p = 0.05. CONCLUSION: No significant differences were observed in the spatio-temporal parameters of gait between groups. The gait characteristics remain, even in the absence of pain and with gait performance improvement with patients participating in rehabilitation programs.

O tratamento convencional da trombose venosa profunda na fase aguda consiste em restrição ao leito. Porém, estudos recentes contestam essa abordagem terapêutica, enfatizando que a mobilização precoce propicia resultados clínicos favoráveis. O objetivo deste estudo foi pesquisar em literatura científica, principalmente ensaios clínicos controlados, sobre a mobilização precoce de pacientes portadores de trombose venosa profunda de membros inferiores na fase aguda. Utilizou-se como estratégia de pesquisa o site PubMed para a busca de estudos relacionados à mobilização precoce, deambulação e trombose venosa profunda na fase aguda. Os artigos consultados abrangeram o período de 1992 a 2007. Em todos os estudos, a mobilização precoce esteve associada à heparina de baixo peso molecular e a terapia de compressão. Estudos avaliados nesta revisão têm demonstrado os benefícios na redução da dor e edema, com melhora da qualidade de vida, pela estratégia terapêutica de mobilização precoce em combinação com anticoagulação e compressão da perna na trombose venosa profunda, sem que ocorra maior risco de desfechos relevantes, como embolia pulmonar e morte.

Conventional treatment of deep venous thrombosis in the acute phase includes bed rest. However, recent studies have challenged such therapeutic approach, emphasizing that early mobilization provides favorable clinical outcomes. This study aimed at finding qualified scientific studies, especially controlled clinical trials, on early mobilization of patients with acute deep venous thrombosis of the lower limbs. PubMed was used to search for articles related to early mobilization, ambulation and acute deep venous thrombosis. Articles covered the period from 1992 to 2007. In all studies, early mobilization was associated with low molecular weight heparin and compression therapy. Studies evaluated in this review showed benefits in reducing pain and edema, with improvement in quality of life, using the therapeutic strategy of early mobilization in combination with anticoagulation and compression of the leg in patients with deep venous thrombosis, without increased risk of relevant outcomes, such as pulmonary embolism and death.

OBJETIVO: Determinar a acurácia diagnóstica do ecocardiograma, analisando prospectivamente, o valor do método na indicação cirúrgica sem cateterismo em portadores de cardiopatia congênita, através da comparação do diagnóstico ecocardiográfico com os achados intra-operatórios e/ou do estudo invasivo. MÉTODOS: De fevereiro/2000 a janeiro/2001, foram acompanhados 493 pacientes cardiopatas congênitos com indicação cirúrgica, submetidos a ecocardiograma com mapeamento de fluxo em cores para decisão terapêutica. Os resultados foram comparados aos achados cirúrgicos e/ou de cateterismo quando realizado para complementação diagnóstica. RESULTADOS: Dos pacientes estudados, 94,3% (465 casos) foram submetidos à correção da cardiopatia congênita apenas com o ecocardiograma e sem cateterismo diagnóstico. O estudo invasivo foi realizado para complementação diagnóstica em 28 (5,6%) casos, o tratamento cirúrgico realizado em mais de 95% dos casos e o cateterismo terapêutico em 3,6%. Os achados do ecocardiograma se confirmaram em 464 (94,1%) dos casos, demonstrando uma alta acurácia do método. Ocorreram 8 (1,6%) casos de falso positivos e 39 (7,9%) casos de falso negativos. Segundo os cirurgiões, nenhum dos erros diagnósticos levaram a complicações ou afetaram os resultados cirúrgicos adversamente. CONCLUSÃO: O ecocardiograma se mostrou método sensível e seguro para indicação cirúrgica, dispensando, muitas vezes, a realização de estudo invasivo, ficando este, restrito aos casos de complementação diagnóstica ou terapêutica.

OBJECTIVE: To determine the diagnostic accuracy of echocardiography for indicating surgery without catheterization in patients with congenital heart disease through a prospective analysis and comparison of the echocardiographic diagnosis with the intraoperative findings, or invasive study, or both. METHODS: From February 2000 to January 2001, 493 patients with congenital heart diseases indicated for surgery were followed up. They underwent echocardiography with color-flow mapping for a therapeutic decision. The results were compared with the findings of surgery or catheterization, or both, when the latter were performed for diagnostic reasons. RESULTS: Of the patients studied, 94.3% (465 cases) underwent congenital heart disease correction based only on echocardiographic findings, without a diagnostic catheterization. The invasive study was performed for diagnostic reasons in 28 (5.6%) patients, the surgical treatment was performed in more than 95% of the patients, and therapeutic catheterization was performed in 3.6%. The echocardiographic findings were confirmed in 464 (94.1%) patients, which showed the high accuracy of the method. False-positive findings occurred in 8 (1.6%) patients, and false-negative findings in 39 (7.9%). According to surgeons, no diagnostic error led to complications or adversely affected the surgical results. CONCLUSION: Echocardiography proved to be a sensitive and safe method for indicating surgery, making catheterization, often, unnecessary. The invasive study was restricted to diagnostic or therapeutic uses.