Multisystemic RFC1-Related Disorder: Expanding the Phenotype Beyond Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Background and Objectives: The RFC1 spectrum has become considerably expanded as multisystemic features beyond the triad of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) have started to be unveiled, although many still require clinical replication. Here, we aimed to clinically characterize a cohort of RFC1-positive patients by addressing both classic and multisystemic features. In a second part of this study, we prospectively assessed small nerve fibers (SNF) and autonomic function in a subset of these RFC1-related patients. Methods: We retrospectively enrolled 67 RFC1-positive patients from multiple neurologic centers in Portugal. All patients underwent full neurologic and vestibular evaluation, as well as neuroimaging and neurophysiologic studies. For SNF and autonomic testing (n = 15), we performed skin biopsies, quantitative sensory testing, sudoscan, sympathetic skin response, heart rate deep breathing, and tilt test. Results: Multisystemic features beyond CANVAS were present in 82% of the patients, mainly chronic cough (66%) and dysautonomia (43%). Other features included motor neuron (MN) affection and motor neuropathy (18%), hyperkinetic movement disorders (16%), sleep apnea (6%), REM and non-REM sleep disorders (5%), and cranial neuropathy (5%). Ten patients reported an inverse association between cough and ataxia severity. A very severe epidermal denervation was found in skin biopsies of all patients. Autonomic dysfunction comprised cardiovascular (67%), cardiovagal (54%), and/or sudomotor (50%) systems. Discussion: The presence of MN involvement, motor neuropathy, small fiber neuropathy, or extrapyramidal signs should not preclude RFC1 testing in cases of sensory neuronopathy. Indeed, the RFC1 spectrum can overlap not only with multiple system atrophy but also with hereditary motor and sensory neuropathy, hereditary sensory and autonomic neuropathy, and feeding dystonia phenotypes. Some clinical-paraclinical dissociations can pose diagnostic challenges, namely large and small fiber neuropathy and sudomotor dysfunction which are usually subclinical.

Cardiovascular rehabilitation in patients aged 70-year-old or older: benefits on functional capacity, physical activity and metabolic profile in younger vs. older patients.

BACKGROUND: The benefits of exercise-based cardiac rehabilitation (EBCR) programs in post-acute myocardial infarction (AMI) patients have been demonstrated. Our aim was to assess the impact of EBCR in ≥ 70-years-old vs. younger post-AMI patients. METHODS: We retrospectively evaluated patients who underwent a supervised EBCR protocol, twice a week during 6-12 weeks. We evaluated changes in several outcomes based on pre- and post-CRP assessments. RESULTS: Of a total of 1607 patients, 333 (21%) were ≥ 70-years-old. After the EBCR, an overall improvement on functional capacity, daily physical activity, lipid profile, body mass index, glycated hemoglobin (HbA1c), N-terminal pro-brain natriuretic peptide (NT-pro-BNP) and C-reactive protein was observed in both younger and older patients (P < 0.05). Older patients showed a smaller benefit on the increment of daily physical activity and lipid profile improvement, but a larger reduction in NT-pro-BNP. In the multivariate analysis, only improvements on daily physical activity and HbA1c were dependent on age. CONCLUSION: As their younger counterparts, older patients, significantly improved functional capacity, metabolic parameters and level of daily physical activity after EBCR.

[Predictors of changes in functional capacity on a cardiac rehabilitation program]. / Fatores preditores da evolução da capacidade funcional num programa de reabilitação cardíaca.

INTRODUCTION: The effectiveness of cardiac rehabilitation programs (CRP) strongly influences the recovery of functional capacity (FC), resulting in improved prognosis and survival. OBJECTIVE: To determine the cardiovascular risk factors that predict changes in FC in patients on CRP. METHODS: We performed a cross-sectional descriptive retrospective study of patients who began a CRP between January 2008 and December 2013. The dependent variable was changes in FC estimated in metabolic equivalents (METs) achieved in stress testing at the beginning and end of the phase II program. The independent variables were age, gender, dyslipidemia, diabetes, smoking, body mass index, physical activity level and reason for referral to the CRP. RESULTS: The sample included 1399 patients, of whom 1125 (80.4%) completed the program. FC improved in most patients (93%), with a mean gain of 1.45 ± 1.19 METs. Patients aged 45 -65 and over 65 years achieved a greater increase in FC compared with other age groups. Patients admitted to the CRP after coronary artery bypass graft surgery obtained a greater improvement in FC compared to patients with acute coronary syndrome. Non-diabetic patients benefited more than diabetic patients. No significant differences were seen between the groups in the other variables. CONCLUSION: This study highlights the need for new and individualized approaches in certain subgroups of patients on CRP.

Cardiac rehabilitation in patients with type 2 diabetes mellitus and coronary disease: a comparative study.

INTRODUCTION AND AIMS: Diabetic patients have a 2-4 times higher risk of cardiovascular disease than non-diabetic individuals. The aims of this study are to evaluate the effects of a cardiac rehabilitation program (phase II) in patients with diabetes and coronary disease and to compare the results with regard to control of cardiovascular risk factors and improvement in functional capacity with coronary patients without diabetes. METHODS: This was a prospective study of patients diagnosed with ischemic heart disease referred for a cardiac rehabilitation program between January 2009 and June 2013. The population was divided into two groups: diabetic and non-diabetic. Patients were assessed at the beginning of phase II and three months later and the following parameters were recorded: body mass index, waist circumference, lipid profile, blood glucose and glycated hemoglobin in diabetic patients, blood pressure, smoking, physical activity level (using the International Physical Activity Questionnaire) and functional capacity (on treadmill stress testing). RESULTS: The study population consisted of 682 patients (253 diabetic and 429 non-diabetic). Diabetic patients were significantly older, had a worse cardiovascular risk profile (higher prevalence of overweight, dyslipidemia, hypertension and sedentary lifestyle) and lower functional capacity. At the end of phase II, there was a statistically significant improvement (p<0.05) in all risk factors and functional capacity, which was similar in both groups, except for body mass index, triglycerides and functional capacity. CONCLUSIONS: Diabetic patients may benefit from a cardiac rehabilitation program and achieve comparable results to non-diabetic patients.

The benefits of cardiac rehabilitation in coronary heart disease: a gender issue?

INTRODUCTION AND OBJECTIVES: Coronary heart disease is the leading cause of death in women worldwide and several studies have shown that they are under-represented in cardiac rehabilitation therapy. The objectives of this study were to assess the prevalence of women in a cardiac rehabilitation program and to assess their response to this intervention. METHODS: This is a retrospective study of 858 patients who attended an exercise-based cardiac rehabilitation program after an acute coronary syndrome or elective percutaneous coronary intervention, between January 2008 and December 2012. The patients were analyzed by gender, and the impact of the intervention on cardiovascular risk factors and NT-proBNP was studied. In a subgroup of 386 patients the impact on functional capacity, resting heart rate, chronotropic index and heart rate recovery was also analyzed. RESULTS: Only 24% of the 858 patients who attended the program were women. Women showed statistically significant improvements in all cardiovascular risk factors, NT-proBNP, functional capacity and heart rate recovery (p<0.05) after the program. There were also improvements in resting heart rate and chronotropic index, but these were not statistically significant (p=0.08 and p=0.40, respectively) and when the improvements in these two parameters were compared between genders, there was no statistically significant difference (p=0.33 and p=0.17, respectively). CONCLUSIONS: Only 24% of the patients attending the program were women. We found that they benefited from cardiac rehabilitation therapy, with significant improvements in cardiovascular risk factors and in most of the prognostic markers studied.

[Long-term effects of a cardiac rehabilitation program in the control of cardiovascular risk factors]. / Efeitos a longo prazo de um programa de reabilitação cardíaca no controlo dos fatores de risco cardiovasculares.

INTRODUCTION: Cardiac rehabilitation programs are designed to improve patients' functional capacity, as well as to educate them and to monitor their cardiovascular risk factors. AIM: The study aims to evaluate the effects of cardiac rehabilitation programs in patients with coronary disease over a 12-month follow-up period with regard to control of cardiovascular risk factors. METHODS: This was a prospective study of patients diagnosed with coronary disease who completed an exercise-based cardiac rehabilitation program between January 2008 and December 2009 and who were not lost to follow-up. Patients were evaluated at an early stage (first medical consultation in phase II of the program) and 3, 6 and 12 months later, the following parameters being assessed: weight and body mass index, waist circumference, lipid profile, HbA1c in diabetic patients, blood pressure, smoking status and physical activity (using the International Physical Activity Questionnaire). RESULTS: In the sample of 256 patients (76.2% male, mean age 67 years), dyslipidemia proved to be the most prevalent risk factor (74.2%), followed by overweight (71.5%). There was a statistically significant improvement (p<0,05) in all risk factors studied at the end of phase II of the program, which was maintained at 6 and 12 months of follow-up, with the exception of body mass index (loss of statistical significance at 6-month assessment, p=0,92). CONCLUSION: This study highlights the need for cardiac rehabilitation programs in the context of secondary prevention of cardiovascular disease and the importance of implementing strategies that promote long-term maintenance of their benefits.

[What factors determine the levels of physical activity after cardiac rehabilitation program?]. / Que Fatores Determinam os Níveis de Atividade Física após Programa de Reabilitação Cardíaca?

INTRODUCTION: The Cardiac Rehabilitation Programs have gained tremendous importance in the prevention of cardiovascular disease and it's a challenge to ensure the practice of regular exercise during and after the supervised program. The aim of this study was to determine the factors that influence the physical activity habits at 12 months after the Cardiac Rehabilitation Program. MATERIAL AND METHODS: Prospective study, including 580 patients with ischemic heart disease who were consecutively oriented for Cardiac Rehabilitation Program at Cardiovascular Prevention and Rehabilitation Unit of Centro Hospitalar do Porto, between January 2008 and June 2011. Physical activity levels were measured with International Physical Activity Questionnaire which was calculated at the beginning of the program, 3 and 12 months later. The following variables were chosen and tested as potential determinants of physical activity habits of 12 months after program: age; sex; modifiable risk factors; functional capacity (achieved in treadmill stress test); laboratory analysis (HbA1c, lipid profile, C-Reactive Protein and Brain Natriuretic Peptide). A linear regression analysis was carried to identify the significant determinants and to find the best model adjustment. RESULTS: Advanced age, female gender, functional capacity and low levels of physical activity prior to the Cardiac Rehabilitation Program, as well as a weak evolution of the International Physical Activity Questionnaire during the program were the best univariable predictors of a less favourable evolution of the International Physical Activity Questionnaire during 12 months of follow-up. A multivariable linear regression analysis showed that the best explanatory model included age, gender and evolution of the International Physical Activity Questionnaire during the supervised program (R2 Adj. = 0.318; f = 60.62, p < 0.001). CONCLUSION: The identification of certain subgroups of patients with lower tendency toward physical activity is beneficial to enable timely and individualized strategies to maximize the therapeutic and preventive potential of the Cardiac Rehabilitation Programs.

Introdução: Os Programas de Reabilitação Cardíaca ganharam enorme relevância na prevenção de doenças cardiovasculares constituindo um desafio assegurar a prática de exercício físico regular durante e após o fim do programa supervisionado. O objetivo deste trabalho foi determinar os fatores que influenciam os hábitos de atividade física 12 meses após um Programa de Reabilitação Cardíaca.Material e Métodos: Estudo prospetivo abrangendo 580 doentes com cardiopatia isquémica consecutivamente orientados para Programas de Reabilitação Cardíaca na Unidade de Reabilitação Cardiovascular do Centro Hospitalar do Porto, entre Janeiro de 2008 e Junho de 2011. Avaliaram-se os níveis de atividade física através do International Physical Activity Questionnaire realizado no início do programa, aos 3 e 12 meses depois. Foram testados como potenciais determinantes dos hábitos de atividade física a longo prazo: idade; sexo; fatores de risco modificáveis; capacidade funcional (alcançada em prova de esforço); análises laboratoriais (HbA1c, perfil lipídico, Proteína C Reativa e Peptideo Natriurético Cerebral). Realizou-se análise de regressão linear para identificar os preditores significativos e encontrar o melhor ajuste do modelo.Resultados: A idade avançada, género feminino, a capacidade funcional, níveis de atividade física baixos previamente ao Programa de Reabilitação Cardíaca e uma fraca evolução do International Physical Activity Questionnaire durante o programa foram os melhores preditores univariáveis de uma evolução menos favorável do International Physical Activity Questionnaire nos 12 meses de follow-up. A análise de regressão linear multivariável concluiu que o melhor modelo explicativo incluía: idade, género, evolução do IPAQ no programa (R2 ajust = 0,318; f = 60,62; p < 0,001).Conclusão: A identificação de subgrupos de doentes com menor tendência à prática de atividade física permite desenvolver estratégias individualizadas, maximizando o potencial terapêutico e preventivo dos Programas de Reabilitação Cardíaca.

Noncompaction of ventricular myocardium.

Noncompaction of ventricular myocardium is a rare cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium; its true prevalence is still uncertain. A strong association between noncompaction and neuromuscular disorders has been described. Its major clinical manifestations are heart failure, arrhythmias and systemic embolic events. Diagnosis of noncompaction of ventricular myocardium can be made by conventional two-dimensional and color Doppler echocardiography. Recently contrast echocardiography has been used to provide a definitive diagnosis in most cases in which conventional echocardiography could not do so. We describe the case of a patient with clinical suspicion of noncompaction of ventricular myocardium established by conventional two-dimensional and color Doppler echocardiography and definitive diagnosis, as well as additional information, obtained by cardiac magnetic resonance imaging. We also discuss the difficulties in defining the therapeutic approach.