Sudden death in high performance athlete with bradycardia and SCN5A gene mutation

INTRODUCTION: Sinus bradycardia (SB) at rest is considered normal in athletes and is determined by intrinsic heart rate (HR) reduction and modulations of the autonomic system. However, the possibility of progressive degeneration in association with genetic mutations that determine rhythm alterations should make the marked and persistent BS to be better investigated. CASE REPORT: Marathon runner, 28 years, SB with HR < 30 bpm associated with first degree atrioventricular block (AVB) and left ventricular hypertrophy (LVH). Diagnosed with atrial flutter (AF) during a period of high-intensity training, which was treated with ablation. After 16 years of follow-up, he had an ischemic stroke (IS), treated with trombolisys, without neurologic sequelae. After developed episodes of sudden loss of consciousness, which was attributed to seizures resulting from the IS. However, the SB with pauses persisted, despite the improvement in the (LVH) pattern. HOLTER showed HR 36-48-80 bpm, BS rhythm, alternating with atrial ectopic rhythm, episodes of type I 2nd degree AVB and pauses of up to 2.7s. TILT-TEST with marked SB, 1st degree AVB and junctional escape, with accentuation of bradycardia and prolonged pauses to orthostasis, without HR response to sensitization with vasodilator, as well as with atropine. Suspecting genetic mutations that cause hereditary primary electrical diseases, a genetic test was collected. However, the patient had sudden death during sleep, before the result, which revealed a mutation of the SCN5A gene. DISCUSSION: SB, prevalent in athletes, may be accompanied by AVB of varying degrees. In this case, in addition to marked bradycardia, the patient had AF. Despite the causal relationship between mutations in the SCN5A gene and the Brugada Syndrome phenotype, there are atypical clinical manifestations that include, in addition to the set of signs and symptoms of Brugada syndrome, AF, sinus node dysfunction, long QT syndrome, dilated cardiomyopathy , and others. Carriers of SCN5A mutations linked to Brugada syndrome or progressive cardiac conduction system degeneration are at increased risk of sudden death. CONCLUSION: Marked bradycardia in athletes should be investigated and the association with channelopathies leads to phenotypes with aberrant rhythms and progressive degeneration of the cardiac conduction system, which can determine fatal arrhythmias.

Home-based training program in patients with chronic heart failure and reduced ejection fraction: a randomized pilot study.

OBJECTIVES: We aimed to compare the effects of home-and center-based exercise training programs on functional capacity, inspiratory muscle strength, daily physical activity level, and quality of life (QoL) in patients with chronic heart failure (CHF) over a 12-week period. METHODS: This study included 23 patients with CHF (left ventricular ejection fraction 31±6%) randomized to a home-based (n=11) or center-based (n=12) program. Patients underwent 12 weeks of aerobic training (60%-70% heart rate reserve): walking for the home-based and supervised cycling for the center-based group, both combined with resistance training (50% of 1 maximum repetition). At baseline and after 12 weeks of training, we assessed cardiopulmonary test variables, 6-min walk test distance (6 MWD), steps/day with accelerometry, and QoL (Minnesota Living with Heart Failure questionnaire). Maximal inspiratory pressure and handgrip strength were measured at baseline and after 4, 8, and 12 weeks of training. ClinicalTrials.gov: NCT03615157. RESULTS: There were no adverse events during training in either group. The home- and center-based training groups obtained similar improvements in peak oxygen uptake, maximal ventilation, and 6 MWD. However, there were significant between-group differences: center-based training was more effective in improving maximal inspiratory pressure (p=0.042), number of steps/day (p=0.001), and QoL (p=0.039). CONCLUSIONS: Home-based training is safe and can be an alternative to improve the exercise capacity of patients with stable CHF. However, center-based training was superior in improving inspiratory muscle strength, QoL, and daily physical activity.

Home-based training program in patients with chronic heart failure and reduced ejection fraction: a randomized pilot study

OBJECTIVES: We aimed to compare the effects of home-and center-based exercise training programs on functional capacity, inspiratory muscle strength, daily physical activity level, and quality of life (QoL) in patients with chronic heart failure (CHF) over a 12-week period. METHODS: This study included 23 patients with CHF (left ventricular ejection fraction 31±6%) randomized to a home-based (n=11) or center-based (n=12) program. Patients underwent 12 weeks of aerobic training (60%-70% heart rate reserve): walking for the home-based and supervised cycling for the center-based group, both combined with resistance training (50% of 1 maximum repetition). At baseline and after 12 weeks of training, we assessed cardiopulmonary test variables, 6-min walk test distance (6 MWD), steps/day with accelerometry, and QoL (Minnesota Living with Heart Failure questionnaire). Maximal inspiratory pressure and handgrip strength were measured at baseline and after 4, 8, and 12 weeks of training. ClinicalTrials.gov: NCT03615157. RESULTS: There were no adverse events during training in either group. The home- and center-based training groups obtained similar improvements in peak oxygen uptake, maximal ventilation, and 6 MWD. However, there were significant between-group differences: center-based training was more effective in improving maximal inspiratory pressure (p=0.042), number of steps/day (p=0.001), and QoL (p=0.039). CONCLUSIONS: Home-based training is safe and can be an alternative to improve the exercise capacity of patients with stable CHF. However, center-based training was superior in improving inspiratory muscle strength, QoL, and daily physical activity.

Efeitos de um programa de treinamento domiciliar sobre a capacidade funcional e qualidade de vida de pacientes com insuficiência cardíaca crônica / Effects of a home training program on the functional capacity and quality of life of patients with chronic heart failure

INTRODUÇÃO: O treinamento físico melhora a capacidade funcional e a qualidade de vida em pacientes com insuficiência cardíaca crônica (IC). Entretanto, devido à baixa disponibilidade de centros de reabilitação cardíaca e limitações pessoais (custos de transporte, tempo, preferências), a inclusão e a adesão ao treinamento físico supervisionado são baixas, sendo proposto o treinamento domiciliar como alternativa. OBJETIVO: Comparar os efeitos de dois programas de treinamento: um domiciliar e um supervisionado ao longo de 12 semanas sobre a capacidade funcional, atividade física diária e qualidade de vida em pacientes com IC. MÉTODOS: Foram incluídos 23 pacientes com IC (classe funcional NYHA II e III, fração de ejeção do ventrículo esquerdo ≤40%) randomizados em Grupo Domiciliar (GD, n=11) ou Grupo Supervisionado (GS, n=12). Os pacientes realizaram, ao longo de 12 semanas exercícios aeróbios (60-70% da frequência cardíaca de reserva): caminhada para o GD e cicloergômetro para o GS combinados a exercícios resistidos (50% de uma repetição máxima). As variáveis-desfecho foram: pico de consumo de oxigênio e ventilação máxima do teste cardiopulmonar, distância percorrida no teste da caminhada de seis minutos, força muscular do quadríceps, pressão inspiratória máxima, número de passos/dia e qualidade de vida. RESULTADOS: Após 12 semanas,GD e GS apresentaram aumentos significantes (p=0,025) no pico de consumo de oxigênio (0,8 e 3,7 ml/kg/min, respectivamente), na ventilação máxima (11,5 e 15,6 l/min, respectivamente), na distância percorrida (40 e 25 m, respectivamente), na porcentagem de força muscular do quadríceps (21% e 11%, respectivamente) e na qualidade de vida avaliada por meio do questionário Minnesota Living with Heart Failure (1 e 13, respectivamente), sem diferenças entre GD e GS. Entretanto, o GS mostrou melhora na força muscular inspiratória (p=0,042), aumento no número de passos/dia (p=0,001) e no componente de saúde mental do questionário SF-36 (p=0,001) superior ao GD. CONCLUSÕES: O treinamento domiciliar pode ser uma alternativa ao treinamento supervisionado para melhorar a capacidade funcional e a qualidade de vida em pacientes com IC. Além desses benefícios, o treinamento supervisionado foi superior em aumentar a força muscular inspiratória, o número de passos/dia e melhorar os aspectos de saúde mental em pacientes com IC. (AU)

Detection of extended spectrum beta-lactamases and resistance in members of the Enterobacteriaceae family isolated from healthy sheep and dogs in Umuarama, Paraná, Brazil / Detecção de beta-lactamases de espectro estendido e resistência as quinolonas mediada por plasmídeos em membros da família Enterobacteriaceae isolados de ovinos e cães sadios de propriedades rurais da região de Umuarama, Paraná, Brasil

Bacterial resistance is a primary public health concern worldwide. Within this context, pets and breeding animals act as reservoirs for multidrug-resistant bacteria (MR), such as those producing extended spectrum beta-lactamases (ESBL) and those presenting plasmid-mediated quinolone resistance (PMQR). The aim of this study was to detect the presence of ESBL and PMQR in members of the Enterobacteriaceae family, isolated from healthy sheep and dogs from non-intense farming rural properties in the Umuarama region of Paraná, Brazil. A total of 81 oral and rectal swabs from dogs and sheep from 11 small rural properties were analyzed. These swabs were inoculated in tubes containing brain heart infusion broth (BHI), and the resulting cultures were inoculated on MacConkey agar (MAC) supplemented with 10 μg/mL cefotaxime for the selection of ESBL producers. The cells were also plated on MAC supplemented with 50 μg/mL nalidixic acid for selecting quinolone-resistant enterobacteria. The bacterial isolates were subjected to biochemical identification tests, antibiograms, double-disk synergic tests, and polymerase chain reaction analysis for resistance-inducing genes (blaESBL, qnr, and genes encoding efflux pump and acetylases). Four (5.00%) bacterial isolates (3 Escherichia coli and 1 Morganella morganii) resistant to cephalosporins and/or quinolones were identified; of these, three (75%) isolates were from sheep and one (25%) from a dog. These findings indicate the presence of MR bacteria in the normal microbiota of the animals studied. Animals colonized with such bacteria can contribute to the dissemination of antimicrobial resistance to other animals, environment, and/or human beings and can harbor endogenous infections in unfavorable conditions, which have poor prognosis due to the limited therapeutic options.(AU)

Resistência bacteriana é considerado o maior problema de saúde pública mundial da atualidade, sendo os relatos de infecções e surtos causados por bactérias multirresistentes cada vez mais frequentes na clínica veterinária e humana. Neste contexto, animais de companhia e criação podem atuar como reservatório de bactérias multirresistentes, como as produtoras de beta-lactamases de espectro estendido (ESBL) e as que apresentam resistência as quinolonas mediada por plasmídeos (PMQR). O objetivo deste trabalho foi detectar beta-lactamases de espectro estendido e resistência as quinolonas mediada por plasmídeos em membros da família Enterobacteriaceae isolados de ovinos e cães de propriedades rurais não tecnificadas da região de Umuarama, Paraná, Brasil. Foram analisados 81 swabs de cães e ovinos provenientes de 11 pequenas propriedades rurais da região de Umuarama (PR). Os swabs foram inoculados em caldo Brain Heart Infusion (BHI) e o crescimento obtivo foi em seguida semeado em placas de Petri contendo ágar MacConkey (MC) acrescido de cefotaxima 10 μg/mL para seleção de bactérias gram-negativas produtoras de ESBL; e placas contendo MC acrescido de ácido nalidíxico 50 g/mL para seleção de bactérias gram-negativas resistentes as quinolonas. Os isolados bacterianos obtidos foram submetidos a testes de antibiograma pelo método de disco-difusão em ágar, teste sinérgico do duplo-disco e reação em cadeia da polimerase (PCR) para genes que conferem resistência do tipo ESBL e para quinolonas. Dos 81 swabs coletados foi possível detectar quatro (4,97%) isolados bacterianos (3Escherichia coli e 1 Morganellamorganii) resistentes a cefalosporinas e/ou quinolonas. Destes isolados, três (75%) eram de ovinos e um (25%) de cão. Os resultados encontrados indicam a presença de cepas multirresistentes na microbiota normal dos animais estudados.[...](AU)

Detection of extended spectrum beta-lactamases and resistance in members of the Enterobacteriaceae family isolated from healthy sheep and dogs in Umuarama, Paraná, Brazil / Detecção de beta-lactamases de espectro estendido e resistência as quinolonas mediada por plasmídeos em membros da família Enterobacteriaceae isolados de ovinos e cães sadios de propriedades rurais da região de Umuarama, Paraná, Brasil

Bacterial resistance is a primary public health concern worldwide. Within this context, pets and breeding animals act as reservoirs for multidrug-resistant bacteria (MR), such as those producing extended spectrum beta-lactamases (ESBL) and those presenting plasmid-mediated quinolone resistance (PMQR). The aim of this study was to detect the presence of ESBL and PMQR in members of the Enterobacteriaceae family, isolated from healthy sheep and dogs from non-intense farming rural properties in the Umuarama region of Paraná, Brazil. A total of 81 oral and rectal swabs from dogs and sheep from 11 small rural properties were analyzed. These swabs were inoculated in tubes containing brain heart infusion broth (BHI), and the resulting cultures were inoculated on MacConkey agar (MAC) supplemented with 10 μg/mL cefotaxime for the selection of ESBL producers. The cells were also plated on MAC supplemented with 50 μg/mL nalidixic acid for selecting quinolone-resistant enterobacteria. The bacterial isolates were subjected to biochemical identification tests, antibiograms, double-disk synergic tests, and polymerase chain reaction analysis for resistance-inducing genes (blaESBL, qnr, and genes encoding efflux pump and acetylases). Four (5.00%) bacterial isolates (3 Escherichia coli and 1 Morganella morganii) resistant to cephalosporins and/or quinolones were identified; of these, three (75%) isolates were from sheep and one (25%) from a dog. These findings indicate the presence of MR bacteria in the normal microbiota of the animals studied. Animals colonized with such bacteria can contribute to the dissemination of antimicrobial resistance to other animals, environment, and/or human beings and can harbor endogenous infections in unfavorable conditions, which have poor prognosis due to the limited therapeutic options.

Resistência bacteriana é considerado o maior problema de saúde pública mundial da atualidade, sendo os relatos de infecções e surtos causados por bactérias multirresistentes cada vez mais frequentes na clínica veterinária e humana. Neste contexto, animais de companhia e criação podem atuar como reservatório de bactérias multirresistentes, como as produtoras de beta-lactamases de espectro estendido (ESBL) e as que apresentam resistência as quinolonas mediada por plasmídeos (PMQR). O objetivo deste trabalho foi detectar beta-lactamases de espectro estendido e resistência as quinolonas mediada por plasmídeos em membros da família Enterobacteriaceae isolados de ovinos e cães de propriedades rurais não tecnificadas da região de Umuarama, Paraná, Brasil. Foram analisados 81 swabs de cães e ovinos provenientes de 11 pequenas propriedades rurais da região de Umuarama (PR). Os swabs foram inoculados em caldo Brain Heart Infusion (BHI) e o crescimento obtivo foi em seguida semeado em placas de Petri contendo ágar MacConkey (MC) acrescido de cefotaxima 10 μg/mL para seleção de bactérias gram-negativas produtoras de ESBL; e placas contendo MC acrescido de ácido nalidíxico 50 g/mL para seleção de bactérias gram-negativas resistentes as quinolonas. Os isolados bacterianos obtidos foram submetidos a testes de antibiograma pelo método de disco-difusão em ágar, teste sinérgico do duplo-disco e reação em cadeia da polimerase (PCR) para genes que conferem resistência do tipo ESBL e para quinolonas. Dos 81 swabs coletados foi possível detectar quatro (4,97%) isolados bacterianos (3Escherichia coli e 1 Morganellamorganii) resistentes a cefalosporinas e/ou quinolonas. Destes isolados, três (75%) eram de ovinos e um (25%) de cão. Os resultados encontrados indicam a presença de cepas multirresistentes na microbiota normal dos animais estudados.[...]

Circulaçäo assistida como ponte para transplante cardiaco / Assisted circulation like bridged to heart transplantation

O presente estudo relata a experiencia do InCor-FMUSP na utilizaçäo de suporte circulatório mecânico como ponte para transplante cardiaco, totalizando três casos. A ponte para transplante cardiaco por meio de dispositivo de assistência circulatoria mecânica consiste num modo de aumentar a sobrevida dos pacientes que esperam por um transplante cardiaco e ainda e pouco empregada em nosso pais