Common functional polymorphisms in β-adrenergic receptor (βAR) genes have been associated with heart failure (HF) phenotypes and pharmacogenetic interactions with βAR blockers. This study evaluated the association between βAR polymorphisms and carvedilol drug response and prognosis in patients with HF. In this prospective cohort controlled study, 326 volunteers were enrolled [146 HF patients (ejection fraction (EF)<50% by Simpson) and 180 healthy controls]. Drug response was evaluated by echocardiography and outcomes were mortality and hospitalization. DNA was extracted from peripheral blood leukocytes, fragments were amplified by the polymerase reaction and genotyped by restriction fragment length polymorphism (RFLP) for Ser49Gly and Arg389Gly βAR-1 polymorphisms and Gln27Glu and Arg16Gly βAR-2 polymorphisms. The study population was in Hardy‑Weinberg equilibrium. The survival rate was adjusted using the Kaplan-Meier method. HF patients showed the following characteristics: EF 35±9%, 69.9% male, age 59±13 years, 50.7% self-identified as black, 46% had ischemic etiology. The mean follow-up of 23 months showed 18 mortalities and 46 hospitalizations. The genotypes Glu27Glu (24.7 vs. 6.1%, p=0.0004) and Arg16Arg (72.6 vs. 22.8, p<0.0001) of βAR2 polymorphisms and Gly49Gly (33.6 vs. 4.3%, p<0.0001) of the βAR1 polymorphism were higher in HF patients compared with controls. Patients with hospital admission showed a significantly higher Gly389 allelic frequency (54.9 vs. 42.1%, p=0.039), and the trend prevailed among patients who succumbed to the disease (61.1%, p=0.047). Black patients with the Ser49Ser genotype showed a reduced survival compared with the Gly49Gly or Ser49Gly genotypes (p=0.028). There was no association between improved LVEF >20% and βAR polymorphisms. HF patients with β-blocker therapy and the Gly389 allele have reduced event-free survival compared to those carrying the Arg389 allele. Additionally, systolic HF outpatients undergoing β-blocker therapy, self‑identified as black and homozygous for Ser49Ser may have reduced event-free survival, while Glu27Glu, Arg16Arg and Gly49Gly genotypes may be associated with risk for HF.
Autonomic dysfunction is highly prevalent in hemodialysis patients and has been implicated in their increased risk of cardiovascular mortality.ObjectiveTo evaluate the ability of different parameters of exercise treadmill test to detect autonomic dysfunction in hemodialysis patients.MethodsCross-sectional study involving hemodialysis patients and a control group. Clinical examination, blood sampling, echocardiogram, 24-hour Holter, and exercise treadmill test were performed. A ramp treadmill protocol symptom-limited with active recovery was employed.ResultsForty-one hemodialysis patients and 41 controls concluded the study. There was significant difference between hemodialysis patients and controls in autonomic function parameters in 24h-Holter and exercise treadmill test. Probability of having autonomic dysfunction in hemodialysis patients compared to controls was 29.7 at the exercise treadmill test and 13.0 in the 24-hour Holter. Chronotropic index, heart rate recovery at the 1st min, and SDNN at exercise were used to develop an autonomic dysfunction score to grade autonomic dysfunction, in which, 83% of hemodialysis patients reached a scoring ≥2 in contrast to 20% of controls. Hemodialysis was independently associated with either altered chronotropic index or autonomic dysfunction scoring ≥2 in every tested model (OR=50.1, P=0.003; and OR=270.9, P=0.002, respectively, model 5).ConclusionThe exercise treadmill test was feasible and useful to diagnose of the autonomic dysfunction in hemodialysis patients. Chronotropic index and autonomic dysfunction scoring ≥2 were the most effective parameters to differentiate between hemodialysis patients and controls suggesting that these variables portrays the best ability to detect autonomic dysfunction in this setting.
RESUMO -Racional -A esofagectomia laparoscópica transhiatal para doença benigna ou maligna do esôfago é cirurgia complexa, associada a altas taxas de morbimortalidade. Nas últimas décadas ganhou aceitação para o tratamento do câncer de esôfago e algumas doenças benignas por evitar toracotomia, diminuindo, assim as complicações associadas a essa abordagem. INTRODUÇÃOEm todo o mundo, o câncer de esôfago é a sexta maior causa de morte por neoplasia. Em 2003, 13.900 novos casos foram registrados nos EUA com 13.000 óbitos. Essa alta taxa de mortalidade explica-se pelo fato de que mais de 50% dos pacientes apresentam tumor inoperável no momento do diagnóstico. Os principais tipos histológicos são carcinoma epidermóide e adenocarcinoma, sendo o primeiro com taxa de incidência superior, embora nos EUA haja uma equivalência entre ambos. Os principais fatores de risco são o tabagismo e o etilismo, sendo os homens mais acometidos que as mulheres (4,23) . A esofagectomia transhiatal para doença benigna ou maligna do esôfago é cirurgia complexa, associada a altas taxas de morbimortalidade. Nas últimas décadas ganhou popularidade e aceitação com ORRINGER (21). e PINOTTI et al.(23) para tratamento do câncer de esôfago. Em nosso meio, a esofagectomia sem toracotomia foi publicada por FERREIRA (7,8,9) e iniciada no serviço, em 1982, por TINOCO et al. (30,31) . A necessidade de diminuir as complicações per e pós-operatórias favoreceu o desenvolvimento de técnicas minimamente invasivas (20,26,29,33,34) , como a esofagectomia laparoscópica transhiatal (ELTH), inicialmente descrita por DePAULA et al.(3) e, a seguir, por SWANSTRONM et al. (27) A cirurgia laparoscópica é considerada padrão-ouro para colecistectomia e hernioplastia hiatal. Suas vantagens incluem morbidade, dor e permanência hospitalares menores (21,22,27,28,29,30) . O objetivo deste trabalho foi avaliar aspectos das complicações per e pós-operatórias e da evolução dos pacientes submetidos a ELTH no Serviço de Cirurgia Geral e Laparoscopia do Hospital São José do Avaí, em Itaperuna, RJ. MÉTODOSNo período de novembro 1993 a junho 2005, 64 pacientes foram submetidos a ELTH por neoplasia esofagiana. Houve predomínio do sexo masculino (81%), com média de idade de 56,5 anos (29-73 anos). A apresentação clínica e os hábitos sociais dos pacientes estão demonstrados nas Tabela 1 e 2, respectivamente, e o estádio da doença no momento do diagnóstico na Tabela 3. A análise histopatológica demonstrou 46 casos de carcinoma epidermóide (72%) e 18 de adenocarcinoma (28%). A localização primária do tumor era assim distribuída: 2 casos (3,2%) se encontravam no terço superior do esôfago, 32 (50%) no terço médio e 30 (46,8%) no terço inferior.A abordagem dos pacientes era feita com a realização de radioterapia e quimioterapia neo-adjuvantes, segundo mostra a Figura 1 e a avaliação pré-operatória incluiu
BackgroundAutonomic dysfunction (AD) is highly prevalent in hemodialysis (HD) patients and has been implicated in their increased risk of cardiovascular mortality.ObjectiveTo correlate heart rate variability (HRV) during exercise treadmill test (ETT) with the values obtained when measuring functional aerobic impairment (FAI) in HD patients and controls.MethodsCross-sectional study involving HD patients and a control group. Clinical examination, blood sampling, transthoracic echocardiogram, 24-hour Holter, and ETT were performed. A symptom-limited ramp treadmill protocol with active recovery was employed. Heart rate variability was evaluated in time domain at exercise and recovery periods.ResultsForty-one HD patients and 41 controls concluded the study. HD patients had higher FAI and lower HRV than controls (p<0.001 for both). A correlation was found between exercise HRV (SDNN) and FAI in both groups. This association was independent of age, sex, smoking, body mass index, diabetes, and clonidine or beta-blocker use, but not of hemoglobin levels.ConclusionNo association was found between FAI and HRV on 24-hour Holter or at the recovery period of ETT. Of note, exercise HRV was inversely correlated with FAI in HD patients and controls.
Análise de um modelo de risco pré-operatório específico para cirurgia valvar e a relação com o tempo de internação em unidade de terapia intensiva
ResumoCoarctação da aorta constitui um estreitamento de origem congênita na porção inicial da aorta torácica. Tem incidência de 6 a 8% em nascidos vivos. A apresentação clínica é variada. O tratamento de escolha é o cirúrgico. Relatamos um caso de paciente do sexo feminino de 31 anos, com queixa de dor constrictiva na região cervical, dispnéia e claudicação intermitente em membros inferiores, sendo diagnosticada coarctação da aorta associada a estenose aórtica grave, que foi tratada com combinação das técnicas implantação de stent endovascular e angioplastia por balão. Palavra-chave:Coarctação aorta, stent, angioplastia. AbstractAortic coarctation is a congenital stenosis in the initial portion of the thoracic aorta. Its incidence ranges between 6-8% of liveborns. Clinical presentations are diversified. The treatment of choice is surgery. We report the case of a 31-year-old female patient with constrictive pain in the cervical region, dyspnea, and intermittent claudication of the lower limbs. She was diagnosed with aortic coarctation associated with severe aortic stenosis, which was treated using a combination of endovascular stent implantation and balloon angioplasty.
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