Initial experience in Brazil with the Helex septal occluder for percutaneous occlusion of atrial septal defects

OBJECTIVE: To evaluate the initial clinical experience with the Helex septal occluder for percutaneous closure of atrial septal defects. METHODS: Ten patients underwent the procedure, 7 patients with ostium secundum atrial septal defects (ASD) with hemodynamic repercussions and 3 patients with pervious foramen ovale (PFO) and a history of stroke. Mean age was 33.8 years and mean weight was 55.4 kg. Mean diameter by transesophageal echocardiography and mean stretched ASD diameter were 11.33 ± 3.3mm, and 15.2 ± 3.8mm, respectively. The Qp/Qs ratio was 1.9 ± 0.3 in patients with ASD. RESULTS: Eleven occluders were placed because a patient with 2 holes needed 2 devices. It was necessary to retrieve and replace 4 devices in 3 patients. We observed immediate residual shunt (< 2mm) in 4 patients with ASD, and in those with patent foramen ovale total occlusion of the defect occurred. No complications were noted, and all patients were discharged on the following day. After 1 month, 2 patients with ASD experienced trivial residual shunts (1mm). In 1 patient, we observed mild prolapse in the proximal disk in the right atrium, without consequences. CONCLUSION: The Helex septal occluder was safe and effective for occluding small to moderate atrial septal defects. Because the implantation technique is demanding, it requires specific training of the operator. Even so, small technical failures may occur in the beginning of the learning curve, but they do not involve patient safety.

Influence of skeletal muscle mass on ventilatory and hemodynamic variables during exercise in patients with chronic heart failure

OBJECTIVE: To assess the influence of skeletal muscle mass on ventilatory and hemodynamic variables during exercise in patients with chronic heart failure (CHF). METHODS: Twenty-five male patients underwent maximum cardiopulmonary exercise testing on a treadmill with a ramp protocol and measurement of the skeletal muscle mass of their thighs by using magnetic resonance imaging. The clinically stable, noncachectic patients were assessed and compared with 14 healthy individuals (S) paired by age and body mass index, who underwent the same examinations. RESULTS: Similar values of skeletal muscle mass were found in both groups (CHF group: 3863 ± 874 g; S group: 3743 ± 540 g; p = 0.32). Significant correlations of oxygen consumption in the anaerobic threshold (CHF: r = 0.39; P= 0.02 and S: r = 0.14; P = 0.31) and of oxygen pulse also in the anaerobic threshold (CHF: r = 0.49; P = 0.01 and S: r =0.12; P = 0.36) were found only in the group of patients with chronic heart failure. CONCLUSION: The results obtained indicate that skeletal muscle mass may influence the capacity of patients with CHF to withstand submaximal effort, due to limitations in their physical condition, even maintaining a value similar to that of healthy individuals. This suggests qualitative changes in the musculature.

Agentes deletéreos para Trypanosoma cruzi: Patogenia de la infección de placenta humana en la enfermedad congénita de Chagas, in vitro. Deleterious agents to Trypanosoma cruzi: Pathogenia of the human placenta infection in the congenital Chagas disease.

Trypanosoma cruzi, agente causal del Chagas, atraviesa la barrera placentaria y produce la enfermedad congénita. Objetivo general: Analizar si el T. cruzi, agente causal del Chagas, produce alteraciones trofoblásticas de las vellosidades coriónicas mediadas por óxido nítrico (principal agente deletéreo contra T. cruzi) y estrés oxidativo con variaciones que pudieran depender de la disponibiidad de L-arginine, sobre placentas en modelos in vitro de co-cultivos de explantos de vellosidades coriónicas, de sinciciotrofoblasto aislado y de células derivadas del trofoblasto de placentas humanas en interacción con distintas cepas del Trypanosoma cruzi, que pudieran dar alguna luz en la explicación de mecanismos involucrados en la infección placentaria y en algunos síndromes clínicos de la transmisión congénita del Chagas. Objetivos Específicos: a) Describir alteraciones estructurales y presencia de T. cruzi en vellosidades coriónicas de placentas humanas procedentes de co-cultivos con Trypanosoma cruzi in vitro (y sus respectivos controles), mediante técnicas histológicas y PCR analizando secuencias de ADN específicas del parásito.b) Establecer la localización y expresión proteica y la expresión transcripcional de las isoformas II y III de la Öxido Nítrico Sintasa sobre la misma población muestral de (a) mediante técnicas inmunohistoquímica, RT-PCR y semicuantificación con software adecuado. c) Analizar la susceptibilidad a la infección por el T. cruzi del citotrofoblasto (CTB) y sinciciotrofoblasto (STB) placentario aislado in vitro. d) Determinar concentraciones de óxido nítrico y estrés oxidativo del sinciciotrofoblasto (STB) aislado ante la infección por T. cruzi. e) Relacionar concentraciones de L-arginina con infección del trofoblasto aislado. f) Relacionar inhibiciones de la eNOS y de la arginasa con infección trofoblástica y óxido nítrico producido.Se emplearán métodos y técnicas de Biología celular y molecular, mediciones hormonales, enzimáticas, proteicas, parasitarias y bioquímicas en medios sobrenadantes de cultivo, de inmuno-detección de epitopes proteicos en tejidos, expresión de ARN por RT-PCR, Western blot, detección de DNA en tejidos por PCR, Cuantificaciones morfométricas. En general, el presente proyecto podría redundar en beneficios para un sector de la población de las áreas endémicas para esta enfermedad de bajos recursos económicos, sociales y culturales, mediante la obtención de datos que pudieran explicar algunos mecanismos de síndromes clínicos descriptos en esta patología y que pudieran participar en la transmisión congénita de la enfermedad de Chagas.

Investigación de defectos genéticos en el sistema de la fosforilasa hepática en pacientes argentinos. Definición nosológica mediante una estrategia de análisis molecular. Investigation of genetic defects in the hepatic phosphorylase system in Argentinean patients. Nosological definition by molecular analysis strategy.

Las Enfermedades de Atesoramiento de Glucógeno (EAGs) también llamadas Glucogenosis comprenden un grupo de entidades causadas por una deficiencia enzimática específica relacionada con la vía de síntesis o degradación de esta macromolécula. La heterogeneidad fenotípica de los pacientes afectados dificulta la identificación de las diferentes variantes de EAG y por ende la correcta definición nosológica. En el Centro de Estudio de las Metabolopatías Congénitas, CEMECO, se fueron definiendo los diferentes tipos de Glucogenosis a través de una estrategia multidisciplinaria que integra distintos niveles de investigación clínica y complementaria, laboratorio metabólico especializado, enzimático, histomorfológico y de análisis molecular. Sin embargo, en algunos enfermos, entre los que se encuentran aquellos con defectos en el sistema de la fosforilasa hepática (EAG-VI y EAG-IX), la exacta definición nosológica aún no está resulta. La EAG-VI se refiere a un defecto en la fosforilasa hepática, enzima codificada por el gen PYGL, mientras que la EAG-IX es causada por un defecto genético en una de las subunidades de la fosforilasa b quinasa hepática codicadas por los genes PHKA2, PHKB y PHKG2, respectivamente. El objetivo del presente trabajo es propender a la definición nosológica de pacientes con defectos en el sistema de la fosforilasa mediante una estrategia de análisis molecular investigando los genes PYGL, PHKA2, PHKB y PHKG2. Los pacientes incluidos en este estudio deberán ser compatibles de padecer una EAG-VI o EAG-IX sobre la base de síntomas clínicos y hallazgos bioquímicos. La metodología incluirá la determinación de la enzima fosforilasa b quinasa en glóbulos rojos y dentro del análisis molecular la extracción de DNA genómico a partir de sangre entera para la amplificación por PCR de los exones más las uniones exon/intron de los genes PHKG2 y PYGL y la extracción de RNA total y obtención de cDNA para posterior amplificación de los cDNA PHKA2 y PHKB. Todos los fragmentos amplificados serán sometidos a análisis de secuencia de nucleótidos. Resultados esperados. Este trabajo, primero en Argentina, permitirá establecer las bases moleculares de los defectos del sistema de la fosforilasa hepática (EAG-VI y EAG-IX). El poder lograr este nivel de investigación traerá aparejado, una oferta integrativa en el vasto capítulo de las glucogenosis hepáticas, con extraordinaria significación en la práctica asistencial para el manejo, pronóstico y correspondiente asesoramiento genético. Hepatic glycogen storage diseases (GSDs) are a group of disorders produced by a deficiency in a specific protein involved in the metabolism of glycogen causing different types of GSDs. Phenotypic heterogeneity of affected patients difficult to identify the different GSD variants and therefore the correct definition of the disease. In the “Centro de Estudio de las Metabolopatías Congénitas”, CEMECO, were defined the different GSD types by a protocol which included complex gradual levels of clinical, biochemical, enzymatic and morphological investigation. However, in some patients, like those one with defects in the hepatic phosphorylase system (GSD-VI and GSD-IX) the exact definition of the disease has not yet been resolved. The GSD-VI is produced by a defect in the PYGL gen that encode the liver phosphorylase, while the GSD-IX is caused by a genetic defect in one of the Phosphorylase b kinase subunits, encoded by the PHKA2, PHKB and PHKG2 genes, respectively. The aim of the present study is to define the phosphorylase system defects in argentinian patients through a molecular strategy that involve the investigation of PYGL, PHKA2, PHKB and PHKG2 genes. Patients included in the present study must be compatible with a GSD-VI or GSD-IX on the bases of clinical symptoms and biochemical findings. The phosphorylase b kinase activity will be assay on in blood red cells. The molecular study will include genomic DNA extraction for the amplification of PHKG2 and PYGL genes and the total RNA extraction for amplification of the PHKA2 and PHKB cDNA by PCR. All PCR-amplified fragments will be subjected to direct nucleotide sequencing. This work, first in Argentina, will make possible to establish the molecular basis of the defects on the hepatic phosphorylase system (GSD-VI and GSD IX). To achieve this level of research will entail advance in the study of the hepatic glycogen storage disease, with extraordinary significance in the treatment, prognosis and the genetic counselling.

Validação da versão em português do Minnesota Living with Heart Failure Questionnaire

FUNDAMENTO: O Minnesota Living with Heart Failure Questionnaire (MLHFQ) é uma importante ferramenta de avaliação da qualidade de vida em pacientes com insuficiência cardíaca. Apesar de amplamente usado em nosso meio, não contávamos com a sua tradução e validação em língua portuguesa. OBJETIVO: Este estudo pretendeu traduzir e validar a versão em português do MLHFQ em pacientes com insuficiência cardíaca. MÉTODOS: Quarenta pacientes com insuficiência cardíaca (30 homens, FEVE 30±6%, 55% de etiologia isquêmica, NYHA I a III) com estabilidade clínica e terapia medicamentosa otimizada realizaram teste cardiopulmonar máximo para avaliação da capacidade física. Logo após, o MLHFQ, devidamente traduzido, foi aplicado por um mesmo pesquisador. A classe funcional NYHA foi encaminhada pela equipe medica. RESULTADOS: A versão em português do MLHFQ apresentou-se com a mesma estrutura e métrica da versão original. Não houve dificuldade na aplicação e compreensão do questionário por parte dos pacientes. A versão em português do MLHFQ mostrou-se concordante com o pico de VO2, o tempo de exercício do teste cardiopulmonar e com a classificação funcional da NYHA. Não houve diferença da média do escore do questionário entre os grupos de etiologia isquêmica e não-isquêmica. CONCLUSÃO: A versão em língua portuguesa da MLHFQ, proposta no presente estudo, demonstrou ser válida em pacientes com insuficiência cardíaca, constituindo uma nova e importante ferramenta para avaliar a qualidade de

Mortality by Heart Failure and Ischemic Heart Disease in Brazil from 1996 to 2011

Background:Circulatory system diseases are the first cause of death in Brazil.Objective:To analyze the evolution of mortality caused by heart failure, by ischemic heart diseases and by ill-defined causes, as well as their possible relations, in Brazil and in the geoeconomic regions of the country (North, Northeast, Center-West, South and Southeast), from 1996 to 2011.Methods:Data were obtained from DATASUS and death declaration records with codes I20 and I24 for acute ischemic diseases, I25 for chronic ischemic diseases, and I50 for heart failure, and codes in chapter XIII for ill-defined causes, according to geoeconomic regions of Brazil, from 1996 to 2011.Results:Mortality rates due to heart failure declined in Brazil and its regions, except for the North and the Northeast. Mortality rates due to acute ischemic heart diseases increased in the North and Northeast regions, especially from 2005 on; they remained stable in the Center-West region; and decreased in the South and in the Southeast. Mortality due to chronic ischemic heart diseases decreased in Brazil and in the Center-West, South and Southeast regions, and had little variation in the North and in the Northeast. The highest mortality rates due to ill-defined causes occurred in the Northeast until 2005.Conclusions:Mortality due to heart failure is decreasing in Brazil and in all of its geoeconomic regions. The temporal evolution of mortality caused by ischemic heart diseases was similar to that of heart failure. The decreasing number of deaths due to ill-defined causes may represent the improvement in the quality of information about mortality in Brazil. The evolution of acute ischemic heart diseases ranged according to regions, being possibly confused with the differential evolution of ill-defined causes.

Prevalence of Rheumatic Heart Disease in a Public School of Belo Horizonte

Background: Previous studies indicate that compared with physical examination, Doppler echocardiography identifies a larger number of cases of rheumatic heart disease in apparently healthy individuals. Objectives: To determine the prevalence of rheumatic heart disease among students in a public school of Belo Horizonte by clinical evaluation and Doppler echocardiography. Methods: This was a cross-sectional study conducted with 267 randomly selected school students aged between 6 and 16 years. students underwent anamnesis and physical examination with the purpose of establishing criteria for the diagnosis of rheumatic fever. They were all subjected to Doppler echocardiography using a portable machine. Those who exhibited nonphysiological mitral regurgitation (MR) and/or aortic regurgitation (AR) were referred to the Doppler echocardiography laboratory of the Hospital das Clínicas of the Universidade Federal of Minas Gerais (HC-UFMG) to undergo a second Doppler echocardiography examination. According to the findings, the cases of rheumatic heart disease were classified as definitive, probable, or possible. Results: Of the 267 students, 1 (0.37%) had a clinical history compatible with the diagnosis of acute rheumatic fever (ARF) and portable Doppler echocardiography indicated nonphysiological MR and/or AR in 25 (9.4%). Of these, 16 (6%) underwent Doppler echocardiography at HC-UFMG. The results showed definitive rheumatic heart disease in 1 student, probable rheumatic heart disease in 3 students, and possible rheumatic heart disease in 1 student. Conclusion: In the population under study, the prevalence of cases compatible with rheumatic involvement was 5 times higher on Doppler echocardiography (18.7/1000; 95% CI 6.9/1000-41.0/1000) than on clinical evaluation (3.7/1000-95% CI).

Proposal Intensity Adequacy of Expiratory Effort and Heart Rate Behavior During the Valsalva Maneuver in Preadolescents

Background: When performing the Valsalva maneuver (VM), adults and preadolescents produce the same expiratory resistance values. Objective: To analyze heart rate (HR) in preadolescents performing VM, and propose a new method for selecting expiratory resistance. Method: The maximal expiratory pressure (MEP) was measured in 45 sedentary children aged 9-12 years who subsequently performed VM for 20 s using an expiratory pressure of 60%, 70%, or 80% of MEP. HR was measured before, during, and after VM. These procedures were repeated 30 days later, and the data collected in the sessions (E1, E2) were analyzed and compared in periods before, during (0-10 and 10-20 s), and after VM using nonparametric tests. Results: All 45 participants adequately performed VM in E1 and E2 at 60% of MEP. However, only 38 (84.4%) and 25 (55.5%) of the participants performed the maneuver at 70% and 80% of MEP, respectively. The HR delta measured during 0-10 s and 10-20 s significantly increased as the expiratory effort increased, indicating an effective cardiac autonomic response during VM. However, our findings suggest the VM should not be performed at these intensities. Conclusion: HR increased with all effort intensities tested during VM. However, 60% of MEP was the only level of expiratory resistance that all participants could use to perform VM. Therefore, 60% of MEP may be the optimal expiratory resistance that should be used in clinical practice.