Association study of the Ile349val polymorphism of the gene ADH1C and alcohol dependence

OBJECTIVE: The aim of this study was to investigate the polymorphism Ile349Val of the enzyme alcohol dehydrogenase ADH1C gene among individuals with alcohol dependence syndrome (ADS) attending Alcoholics Anonymous (AA) meetings. METHODS: A total of 120 subjects residing in Rio de Janeiro city participated in this study. Subjects were divided into two groups: a group consisting of 54 individuals from the ADS group and 66 individuals that declared not having any alcohol dependence (control group). DNA was extracted from mouth epithelial cells by phenol-chloroform method and further submitted to amplification by polymerase chain reaction (PCR). RESULTS: Our results did not show differences between the genotypes of control individuals and ADS subjects. Nevertheless, we found increased rates of alcoholism in families of ADS subjects as compared to controls. CONCLUSIONS: Our results did not show any genotype difference on the ADH1C gene when control and AA genotypes are compared.

Uso do procedimento de bissecção temporal na avaliação de idosos com doença de Alzheimer: uma revisão sistemática

OBJETIVO: Realizar revisão sistemática de artigos que utilizaram o método de bissecção, para avaliar a percepção de tempo em idosos com doença de Alzheimer e analisar seus parâmetros. MÉTODO: As buscas dos artigos foram conduzidas no período de março a maio de 2011, nas seguintes bases de dados: Web of Science, Science Direct on Line, Biological Abstracts, PsychoInfo e Medline. As palavras-chave e operadores booleanos foram: "interval timing" ou "perception of time" ou "time discrimination" ou "reproduction of time" e "Alzheimer's disease". Também foram realizadas buscas manuais nas referências dos artigos selecionados. RESULTADOS: Quatro artigos contemplavam todos os critérios de inclusão, nos quais foram encontradas grandes variações nos parâmetros utilizados no método. CONCLUSÃO: Pacientes com doença de Alzheimer apresentam prejuízos nas tarefas de bissecção de tempo, que podem ser explicados pelo declínio gradual nas habilidades que são utilizadas no teste de percepção de tempo. Há grandes variações nos intervalos de tempo utilizados. Neste contexto, há necessidade de mais estudos, controlados e randomizados, para investigar potenciais efeitos das variações nos intervalos de tempo do método de bissecção. Os resultados de tais estudos poderão contribuir para o estabelecimento de parâmetros mais adequados e fidedignos.

Influence of the elevation of the left ventricular diastolic pressure on the values of the first temporal derivative of the ventricular pressure (dP/dt)

PURPOSE: To assess the effects of the elevation of the left ventricular end-diastolic pressure (LVEDP) on the value of the 1st temporal derivative of the ventricular pressure (dP/dt). METHODS: Nineteen anesthetized dogs were studied. The dogs were mechanically ventilated and underwent thoracotomy with parasympathetic nervous system block. The LVEDP was controlled with the use of a perfusion circuit connected to the left atrium and adjusted to the height of a reservoir. The elevation of the LVEDP was achieved by a sudden increase in the height of a reservoir filled with blood. Continuous recordings of the electrocardiogram, the aortic and ventricular pressures and the dP/dt were performed. RESULTS: Elevation of the LVEDP did not result in any variation of the heart rate (167±16.0bpm, before the procedure; 167±15.5bpm, after the procedure). All the other variables assessed, including systolic blood pressure (128±18.3mmHg and 150±21.5mmHg), diastolic blood pressure (98±16.9mmHg and 115±19.8mmHg), LVEDP (5.5±2.49 and 9.3±3.60mmHg), and dP/dt (4,855 ± 1,082 mmHg/s and 5,149±1,242mmHg/s) showed significant increases following the expansion of the ventricular cavity. Although the elevation of the dP/dt was statistically significant, 6 dogs curiously showed a decrease in the values of dP/dt. CONCLUSION: Sudden elevation of the LVEDP resulted in increased values of dP/dt; however, in some dogs, this response was not uniform.

Ebstein's anomaly with coarctation of the aorta. An unusual association

Ebstein's anomaly with coarctation of the aorta is an extremely unusual condition. In this report, the clinical and surgical features of 3 male patients, aged 7 months, 4 years and 14 years, are discussed. All patients were in situs solitus. The first 2 patients had atrioventricular and ventriculoarterial discordance and progressed to heart failure in the neonatal period. The third had atrioventricular and ventriculoarterial concordance, as well as Wolf-Parkinson-White syndrome, with frequent episodes of paroxysmal tachycardia. The 3 patients underwent surgery for correction of the coarctation of the aorta. The patient with atrioventricular and ventriculoarterial concordance underwent tricuspid valvuloplasty using a DeVega-like technique. In addition, ablation of 2 anomalous pathways (Kent bundle), which were detected by the electrophysiologic study, was also subsequently performed. The 3 patients showed a good postoperative outcome for 2 years, although, in those with discordance, the surgical procedure did not influence the dysplasia of the tricuspid valve, because this valve showed light to moderate dysfunction.

Association of pulmonary atresia with intact ventricular septum and aortic valve stenosis. Prenatal diagnosis

A rare association of pulmonary atresia with an intact septum was diagnosed through echocardiography in a fetus 32 weeks of gestational age. The diagnosis was later confirmed by echocardiography of the newborn infant and further on autopsy. The aortic valve was bicuspid with a pressure gradient of 81mmHg, and the right ventricle was hypoplastic, as were the pulmonary trunk and arteries, and the blood flow was totally dependent on the ductus arteriosus.

Lipid profile of nutrition students and its association with cardiovascular disease risk factors

OBJECTIVE: To describe the lipid profile and to verify its relationship with cardiovascular disease risk factors in students at a public university in São Paulo. METHODS: After obtaining clinical, anthropomorphic, and lipid profile data from 118 students, variables of the lipid profile were related to other risk factors. RESULTS: The mean age of the students was 20.3 years (SD=1.5). The risk of cardiovascular disease was characterized by a positive family history of ischemic heart disease in 38.9%; sedentariness in 35.6%; limiting and increased total and LDL-C cholesterol levels in 17.7% and 10.2%, respectively; decreased HDL-C levels in 11.1%; increased triglyceride levels in 11.1%; body mass index >25 in 8.5%, and smoking in 6.7% of the subjects. Students' diet was found to be inadequate regarding protein, total fat, saturated fat, sodium, and fiber contents. A statistically significant association between cholesterol and contraceptive use, between HDL-C and contraceptive use, age and percent body fat, and triglycerides and percent lean weight was observed. CONCLUSION: A high prevalence of some risk factors of cardiovascular disease as well as the association between these factors with altered lipid profiles was observed in the young population studied.

Aortopulmonary window and double aortic arch. A rare association

We report the case of a 27-year-old male patient with dyspnea on physical exertion. Clinical assessment and various tests led to the diagnosis of aortopulmonary window and double aortic arch. According to a literature search, this may be the first report on such association.

Analysis of the Association Between Apolipoprotein E Polymorphism and Cardiovascular Risk Factors in an Elderly Population with Longevity

OBJECTIVE: To establish the allelic and genotypic frequencies related to apolipoprotein E (ApoE) polymorphism and association of the genotypes with risk factors and cardiovascular morbidity in an elderly population with longevity. METHODS: We analyzed 70 elderly patients aged 80 years or more who were part of the Projeto Veranópolis. We used the gene amplification technique through the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and cleavage with the restriction enzyme Hha I to identify the ApoE genotypes. The most frequent genotypes were compared considering biological variables and cardiovascular risks and morbidity. RESULTS: The frequencies of the E2, E3, and E4 alleles were 0.05, 0.84, and 0.11, respectively, and of the genotypes were as follows: E3E3 (0.70), E3E4 (0.22), E2E3 (0.06), and E2E2 (0.02). Individuals with the E3E4 had a mean age greater than those with the E3E3. No association was observed between the genotypes and the variables analyzed, except for obesity, which was associated with the E3E3 genotype. Individuals with the E3E4 genotype had high levels of LDL-cholesterol and fibrinogen as compared with those with the E3E3 genotype. CONCLUSION: The results suggest that the E4E4 genotype may be associated with early mortality. A balance between the protective or neutral factors and the cardiovascular risk factors may occur among the individuals with different genotypes, attenuating the negative effects of the E4 allele.

Assessment of the DIXTAL DX-2710 Automated Oscillometric Device for Blood Pressure Measurement with the Validation Protocols of the British Hypertension Society (BHS) and the Association for the Advancement of Medical Instrumentation (AAMI)

OBJECTIVE: To assess the Dixtal DX2710 automated oscillometric device used for blood pressure measurement according to the protocols of the BHS and the AAMI. METHODS: Three blood pressure measurements were taken in 94 patients (53 females 15 to 80 years). The measurements were taken randomly by 2 observers trained to measure blood pressure with a mercury column device connected with an automated device. The device was classified according to the protocols of the BHS and AAMI. RESULT: The mean of blood pressure levels obtained by the observers was 148±38/93±25 mmHg and that obtained with the device was 148±37/89±26 mmHg. Considering the differences between the measurements obtained by the observer and those obtained with the automated device according to the criteria of the BHS, the following classification was adopted: "A" for systolic pressure (69% of the differences < 5; 90% < 10; and 97% < 15 mmHg); and "B" for diastolic pressure (63% of the differences < 5; 83% < 10; and 93% < 15 mmHg). The mean and standard deviation of the differences were 0±6.27 mmHg for systolic pressure and 3.82±6.21 mmHg for diastolic pressure. CONCLUSION: The Dixtal DX2710 device was approved according to the international recommendations.

Tetralogy of Fallot and hypertrophic cardiomyopathy: a rare association

Tetralogy of Fallot is known as the most common cyanotic congenital heart disease and has a prevalence of 10% of all congenital heart diseases. Although many other heart anomalies may coexist, the association of tetralogy of Fallot and hypertrophic cardiomyopathy is extremely rare. We report this association in a 15-month-old female, cyanotic since birth, in her first hospital admission for diagnosis and treatment of recurring cyanotic crises. In addition, a review of the literature and of the problems related to the treatment is provided.

Association between coronary artery atherosclerosis and the intima-media thickness of the common carotid artery measured on ultrasonography

OBJECTIVE: To assess whether the intima-media thickness of the common carotid artery of patients with coronary artery disease is greater than that of individuals without that disease. METHODS: Case-control prospective study of prevalence assessing the thickness of the intima and media layers of 29 patients with coronary artery disease and 29 individuals without that disease by using ultrasonography of the carotid arteries. Diabetic patients and those with peripheral artery and cerebral vasculopathies were excluded from the study. RESULTS: The mean age was 51±7.5 years. Fifty-five per cent of the patients were males. Acute myocardial infarction was present in 62%; cardiac catheterization in 72%; saphenous bypass in 5%; and coronary angioplasty in 24%. The intima-media thickness of the common carotid artery in case patients and in control patients was, respectively, 0.81±0.25 mm and 0.62±0.18 mm (P=0.001). CONCLUSION: Intima-media thickness of the common carotid artery was significantly greater in patients with coronary artery disease.

Tendência temporal de letalidade hospitalar por infarto agudo do miocárdio: 1994-2003

OBJETIVO: Analisar a tendência temporal de letalidade atribuída ao infarto agudo do miocárdio (IAM) e se a mudança de conduta interferiu diretamente nesta letalidade. MÉTODOS: Avaliaram-se 1055 pacientes não selecionados internados em unidade coronariana de 1994-2003. Foram analisadas variáveis relacionadas ao perfil clínico e terapêutico. A análise estatística utilizou o amortecimento exponencial de séries temporais e outras técnicas como a regressão linear logística. RESULTADOS: A letalidade média foi de 10,8%, sendo 12% em 1994 e 7% em 2002 (p=0,000), uma redução relativa de 58%. Não houve variação significativa do perfil de risco dos pacientes. Eram 67,4% homens e 32,4% mulheres, com idade média de 60,93 e 64,84 anos, respectivamente e observou-se aumento significativo no percentual de cateterismos cardíacos (de 14% para 51%), na angioplastia realizada após 24 horas do infarto (de 2% para 33%), na cirurgia de revascularização miocárdica (de 4% para 7%) e na angioplastia primária (de 4% para 11%) com p=0,000, p=0,021, p=0,000 e p=0,000, respectivamente, para tendência linear. Nas primeiras 24 horas houve aumento do uso de aspirina e betabloqueadores, de 78% para 100% e, de 33% para 76% (p=0,003 e p=0,004, respectivamente) ao longo dos anos. Após a análise, persistiram como determinantes de letalidade a terapia de reperfusão miocárdica, a utilização de aspirina e de betabloqueador nas primeiras 24 horas do IAM (p=0,010, p=0,024 e p=0,035, respectivamente). CONCLUSÃO: Houve queda da letalidade e a mudança de conduta no tratamento do IAM ao longo dos anos foi responsável pela redução da letalidade nesta série temporal.

Mortalidade por insuficiência cardíaca: análise ampliada e tendência temporal em três estados do Brasil

FUNDAMENTO: A insuficiência cardíaca (IC) é uma doença crônica de grande prevalência e altas taxas de mortalidade. A mortalidade por IC, no Brasil, tem sido estudada mais frequentemente com dados de internações hospitalares. OBJETIVO: Avaliar as taxas de mortalidade por IC, por sexo e faixa etária, no conjunto dos estados do Rio de Janeiro, São Paulo e Rio Grande do Sul, de 1999 a 2005. MÉTODOS: As informações foram obtidas dos atestados de óbito examinados nos três estados. A mortalidade por IC foi avaliada em modo restrito (causa básica de morte), modo abrangente (presente em qualquer linha do atestado) e modo ampliado (todos os códigos com presença de IC). RESULTADOS: As taxas específicas de mortalidade apresentaram tendências de quedas nítidas nos grupos de idade, exceto nos de 80 anos ou mais. As taxas aumentaram com a idade, sendo maiores nos homens, de forma clara, até os 80 anos. As taxas de mortalidade por IC foram três vezes maiores no modo abrangente do que no modo restrito. O modo ampliado acrescentou ainda 20% de óbitos em que havia IC. CONCLUSÃO: Os resultados deste estudo demonstram tendências de quedas nas taxas de mortalidade por IC no conjunto dos três estados - cerca de 43% do Brasil -, de 1999 a 2005. A metodologia de causas múltiplas de morte, além das básicas, permite apresentar dimensão mais abrangente da importância da IC como causa de óbito. A seleção adequada dos códigos da Classificação Internacional de Doenças (CID), que compreendem a totalidade do fenômeno de IC, permanece como desafio para futuros estudos.

Variação Temporal no Prognóstico e Tratamento da Insuficiência Cardíaca Avançada - Antes e Após 2000

Fundamento: O tratamento da insuficiência cardíaca evoluiu nas últimas décadas, sugerindo que sua sobrevida tem aumentado. Objetivo: Verificar se houve melhora na sobrevida dos pacientes com insuficiência cardíaca avançada. Métodos: Comparamos retrospectivamente os dados de seguimento e tratamento de duas coortes de pacientes com insuficiência cardíaca sistólica admitidos para compensação até o ano 2000 (n = 353) e após 2000 (n = 279). Foram analisados: morte hospitalar, re-hospitalizações e morte no seguimento de 1 ano. Utilizamos os testes U de Mann-Whitney e qui-quadrado para comparação entre os grupos. Os preditores de mortalidade foram identificados pela análise de regressão por meio do método dos riscos proporcionais de Cox e análise de sobrevida pelo método de Kaplan-Meier. Resultados: Os pacientes internados até o ano 2000 eram mais jovens, tinham menor comprometimento ventricular esquerdo e receberam menor proporção de betabloqueadores na alta. A sobrevida dos pacientes hospitalizados antes de 2000 foi menor do que a dos hospitalizados após 2000 (40,1% vs. 67,4%; p < 0,001). Os preditores independentes de mortalidade na análise de regressão foram: a etiologia chagásica (hazard ratio: 1,9; intervalo de confiança de 95%: 1,3-3,0), inibidores da enzima conversora da angiotensina (hazard ratio: 0,6; intervalo de confiança de 95%: 0,4-0,9), betabloqueador (hazard ratio: 0,3; intervalo de confiança de 95%: 0,2-0,5), creatinina ≥ 1,4 mg/dL (hazard ratio: 2,0; intervalo de confiança de 95%: 1,3-3,0), sódio sérico ≤ 135 mEq/L (hazard ratio: 1,8; intervalo de confiança de 95%: 1,2-2,7). Conclusões: Pacientes com insuficiência cardíaca avançada apresentaram melhora significativa na sobrevida e redução nas re-hospitalizações. O bloqueio neuro-hormonal, com inibidores da enzima conversora da angiotensina e betabloqueadores, teve papel importante no aumento da sobrevida desses pacientes com insuficiência cardíaca avançada.