Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency

Bone is an androgen-dependent tissue, but it is not clear whether the androgen action in bone depends on testosterone or on dihydrotestosterone. Patients with 5alpha-reductase 2 deficiency present normal levels of testosterone and low levels of dihydrotestosterone, providing an in vivo human model for the analysis of the effect of testosterone on bone. OBJECTIVE: To analyze bone mineral density in 4 adult patients with male pseudohermaphroditism due to 5alpha-reductase 2 deficiency. RESULTS: Three patients presented normal bone mineral density of the lumbar column (L1-L4) and femur neck, and the other patient presented a slight osteopenia in the lumbar column. CONCLUSION: Patients with dihydrotestosterone deficiency present normal bone mineral density, suggesting that dihydrotestosterone is not the main androgen acting in bone.

Prevalence of antinuclear autoantibodies in the serum of normal blood dornors

OBJECTIVE:To examine the presence of serum antinuclear autoantibodies in a healthy population. METHODS: Serum of 500 normal blood donors between 18 and 60 years of age were tested for the presence of autoantibodies. Antinuclear antibodies were detected by indirect immunofluorescence technique using HEp-2 epithelial cells as the substrate. The presence of dnaN was detected by indirect immunofluorescence technique using Critidia lucillae as the substrate. Anti-SSA (RO), anti-SSB (LA), anti-Sm, and anti-RNP were determined by double radial immunodiffusion. RESULTS: In the evaluation of the presence of serum antibodies, antinuclear antibodies were detected in 22.6% of the sera. The presence of other antibodies was not significant. The majority of the titers were 1:40. CONCLUSION: The presence of autoantibodies is not necessarily pathologic and has to be related to the age group, gender, and clinical condition of the patient.

Normal aging and decision-making: a systematic review of the literature of the last 10 years

Objective Conduct a systematic review to investigate whether healthy elderly have deficits in the decision-making process when compared to the young. Methods We performed a systematic search on SciELO, Lilacs, PsycINFO, Scopus and PubMed database with keywords decision making and aging (according to the description of Mesh terms) at least 10 years. Results We found nine studies from different countries, who investigated 441 young and 377 elderly. All studies used the IOWA Gambling Task as a way of benchmarking the process of decision making. The analysis showed that 78% of the articles did not have significant differences between groups. However, 100% of the studies that assessed learning did find relevant differences. Furthermore, studies that observed the behavior of individuals in the face of losses and gains, 60% of articles showed that the elderly has more disadvantageous choices throughout the task. Conclusion: The consulted literature showed no consensus on the existence of differences in performance of the decision-making process between old and young, but it is observed that the elderly has deficits in learning and a tendency to fewer advantageous choices.

Capacidade funcional máxima e função diastólica em portadores de cardiomiopatia chagásica sem insuficiência cardíaca congestiva

OBJETIVO: Identificar disfunções cardíacas precoces em pacientes assintomáticos com cardiomiopatia chagásica. MÉTODOS: Foram estudados 38 indivíduos masculinos, sendo o grupo controle constituído de 20 indivíduos sedentários normais e o grupo Chagas de 18 pacientes assintomáticos, portadores da doença de Chagas, com eletrocardiograma alterado e fração de encurtamento (DD) normal ao ecocardiograma. Ambos os grupos foram submetidos à avaliação da capacidade funcional máxima, com medidas do consumo máximo de oxigênio (VO2max), índice de pulso de oxigênio (PO2max), ventilação máxima (VE max), freqüência cardíaca máxima (FC max), e limiar anaeróbio do VO2max (LA-VO2). A função diastólica do ventrículo esquerdo foi avaliada pelo ecocardiograma convencional (ondas E e A além da relação E/A). RESULTADOS: Não ocorreram diferenças significativas entre os dois grupos em relação ao DD (p=0,212) e a idade média (p=0,060). Houve diferença significativa (p<0,001) em relação aos parâmetros VO2max, PO2max, VE max, FC max, LA-VO2, onda E e relação E/A. Não houve significância (p=0,520) em relação a onda A. CONCLUSÃO: O comprometimento na função ventricular pode contribuir para as diferenças acima mencionadas, como conseqüência de disfunção sistólica e diastólica.

Coração de atleta em desportistas deficientes de elite

OBJETIVO: Verificar a prevalência de sinais de "coração de atleta" em desportistas deficientes para-olímpicos. MÉTODOS: Avaliação clínica, eletrocardiográfica, ecocardiográfica, vetorcardiográfica, ergométrica em 75 atletas, 27,8±6,7 anos, 56 homens, várias modalidades; com deficiência física (47), visual (12) e paralisia cerebral (16). RESULTADOS: Sinais de coração de atleta ocorreram em 33% dos exames clínicos (sopros e estalidos), em 55% dos eletrocardiogramas (bradicardia, bloqueio incompleto de ramo direito, sobrecargas, alterações de onda T), em 15% dos vetorcardiograma (sobrecargas), em 5% dos ecocardiogramas (dimensões cavitárias acima do habitual). Os sinais ocorreram em 51% dos atletas, sendo que em 46% dos casos havia 2 ou mais sinais e, em 12%, 4 ou mais sinais. O TE foi normal em 77% dos atletas; não houve ST isquêmico. Em 23% dos casos houve bloqueio divisional direito. CONCLUSÃO: Foram encontrados dois ou mais sinais de coração de atleta em 46% dos atletas deficientes para-olímpicos.

O eletrocardiograma de alta resolução no domínio da freqüência. Utilização de técnicas estatísticas de correlação espectral para identificação de pacientes com taquicardia ventricular monomórfica sustentada

OBJETIVO: Avaliar uma melhoria da acurácia diagnóstica da taquicardia ventricular monomórfica (TVM), através do eletrocardiograma de alta resolução (ECGAR), adicionando à análise no domínio do tempo (DT), técnicas estatísticas de correlação espectral no domínio da freqüência (DF). MÉTODOS: Foram estudados pelo ECGAR 137 indivíduos sendo 27 com cardiopatia e TVM sustentada, 30 com cardiopatia e sem TVM e 80 sem evidências de cardiopatia. Os parâmetros analisados no ECGAR no DT foram: duração do QRS filtrado, RMS40 e LAS40 e, no DF, as médias e os devios padrões da correlação espectral intersegmentar do sinal e da banda de freqüência delimitadora da concentração do sinal. RESULTADOS: A sensibilidade (Sb) e o valor preditivo positivo (VPP) do ECGAR no DT, DF e análise combinada de ambos os domínios foram, na detecção de TVM, respectivamente: Sb = 59,3%, 63% e 81,5% e VPP = 80,0%, 81,0% e 84,6%. CONCLUSÃO: A análise combinada do ECGAR nos DT e DF aumenta a acurácia diagnóstica de pacientes com apresentação clínica de TVM sustentada.

Avaliação de potenciais fragmentados em presença de bloqueio de ramo direito sem alterações estruturais miocárdicas ventriculares. Estudo pelo eletrocardiograma de alta resolução no domínio da freqüência

OBJETIVO: Em ausência de alterações estruturais miocárdicas (AEM), avaliar se o bloqueio de ramo direito (BRD) gera potenciais fragmentados (PF) e turbulência espectral (TE) no eletrocardiograma de alta resolução (ECGAR). MÉTODOS: Doze crianças com comunicação inter-atrial (CIA) e bloqueio incompleto do ramo direito (BIRD) sem AEM (Grupo I), foram comparadas com 17 crianças com tetralogia de Fallot (TF) operada, BCRD e AEM, 5 com extra sístoles ventriculares e 2 com taquicardia ventricular sustentada (Grupo II). Todas fizeram ECGAR nos domínios do tempo (DT) e da freqüência (DF), com cinco variáveis analisadas. RESULTADOS: Os pacientes do grupo I tiveram as variáveis normais apesar do BIRD. No grupo II, 4 das cinco variáveis foram anormais, sugerindo a presença de PF e TE atribuíveis a AEM inerentes à malformação e ao ato cirúrgico. CONCLUSÃO: Na CIA o BIRD não complicado de AEM não gera PF e TE, não constituindo fator de risco para taquicardia ventricular sustentada.

Myocardial perfusion by contrast echocardiography. Establishment of normal pattern of intracoronary injection and safety in humans

OBJECTIVE: To establish the normal pattern and safety of echocardiographic contrast in patients with no significant obstruction of epicardial coronary arteries. METHODS: 67 patients with normal coronary arteries or obstructions < 50% were selected from 277 patients who underwent coronary angiography (CA). Mean age was 56 ± 11years and 36 were males. At the end CA, echocardiographic contrast was selectively injected into each coronary artery. The parasternal short axis of the left ventricle (LV) was divided into six segments: anterior (A), antero-lateral (AL), postero-lateral (PL), posterior (P), infero-septal (IS) and antero-septal (AS). Anterolateral (ALPM) and posteromedial papillary muscles (PMPM) were also considered. The pattern and intensity of the appearance of the myocardial contrast was visually analyzed. RESULTS: The right coronary artery (RCA) was dominant in 60 patients. Contrast appearance was sudden and simultaneous in the 3 muscle layers. All segments could be contrasted after the injection in both coronary arteries. 100% of the AS, A and AL segments, 97% of the PL and 98% of the ALPM were perfused by the left coronary artery (LCA). P and IS segments were perfused by the RCA in 85% and 82%, respectively, and by a dominant LCA in 71% of the cases. The PMPM was perfused by a dominant RCA in 77% and by a dominant LCA in 86%. There were no symptoms. CONCLUSION: Intracoronary injection of the sonicated solution is a safe procedure that allows for an excellent opacification of the myocardium and can potentially be used during routine CA.

Normal values of echocardiographic measurements. A population-based study

OBJECTIVE: To describe echocardiographic measurements and left ventricular mass in a population sample of healthy adults inhabitants of the urban region of Porto Alegre. METHODS: An analytical, observational, population-based, cross-sectional study was done. Through a multi-stage probability sample, 114 individuals were selected to be submitted to a M-mode and two-dimensional echocardiogram with color Doppler. The analyses were restricted to healthy participants. Echocardiographic measurements were described by mean, standard deviation, 95 percentile and 95% confidence limits. RESULTS: A total of 100 healthy participants, with several characteristics similar to those from the original population, had a complete and reliable echocardiographic examination. The measurements of aorta, left atrium, interventricular septum, left ventricle in systole and diastole, left posterior wall and left ventricular mass, adjusted or not for body surface area or height, were significantly higher in males. The right ventricle size was similar among the genders. Several echocardiographic measurements were within standard normal limits. Interventricular septum, left posterior wall and left ventricular mass, adjusted or not for anthropometric measurements, and aortic dimensions had lower mean and range than the reference limits. CONCLUSION: The means and estimates of distribution for the measurements of interventricular septum, left posterior wall and left ventricular mass found in this survey were lower than those indicated by the international literature and accepted as normal limits.

Catecholaminergic polymorphic ventricular tachycardia. An important diagnosis in children with syncope and normal heart

Syncope in children is primarily related to vagal hyperreactivity, but ventricular tachycardia (VT) way rarely be seen. Catecholaminergic polymorphic VT is a rare entity that can occur in children without heart disease and with a normal QT interval, which may cause syncope and sudden cardiac death. In this report, we describe the clinical features, treatment, and clinical follow-up of three children with syncope associated with physical effort or emotion and cathecolaminergic polymorphic VT. Symptoms were controlled with beta-blockers, but one patient died suddenly in the fourth year of follow-up. Despite the rare occurrence, catecholaminergic polymorphic VT is an important cause of syncope and sudden death in children with no identified heart disease and normal QT interval.

Study of Coronary Sinus Flow Reserve Through Transesophageal Doppler Echocardiography in Normal Subjects

OBJECTIVE - To evaluate the Coronary Flow Reserve in the Coronary Sinus through transesophageal Doppler echocardiography in normal subjects. METHODS - We obtained technically adequate flow samples for analysis in 10 healthy volunteers (37±8 years, 5 men) with no history of heart or systemic disease and with mean left ventricular mass index by transthoracic echocardiography of 87±18 g/m². Coronary sinus flow velocity was recorded within the coronary sinus with the patient in a resting condition and during intravenous adenosine infusion at a dose of 140 µg/kg/min for 4 minutes. Recording of coronary sinus blood flow was possible in all cases with measurement of peak systolic, diastolic, and retrograde velocities (PSV, PDV, and PRV, cm/sec), mean systolic and diastolic velocities (MSV and MDV, cm/sec), and systolic and diastolic velocity time integral (VTI S and VTI D, cm/sec). RESULTS - The coronary flow reserve was calculated as the ratio between the blood flow in the basal state and the maximum measured hyperemic blood flow with adenosine infusion. Results are shown as mean and standard deviations. (CFR = PSV + PDV -- PRV/basal PSV): 1st min = 2.2±0.21; 2nd min = 3±0.3; 3rd min = 3.4±0.37; 4th min = 3.6 ± 0.33. CONCLUSION - Although coronary sinus flow had significantly increased in the first minute, higher velocities were seen at third and fourth minutes, indicating that these should be the best times to study coronary sinus flow with intravenous adenosine in continuous infusion.

Characterization of the in vivo cardiac electrophysiologic effects of high-dose cocaine in closed-chest, anesthetized dogs with normal hearts

OBJECTIVE: To characterize the cardiac electrophysiologic effects of cocaine. METHODS: In 8 dogs (9-13 kg), electrophysiologic parameters and programmed stimulation were undertaken using transvenous catheters at baseline, and after cocaine intravenous infusion (12 mg/kg bolus followed by 0.22 mg/kg/min for 25 minutes). RESULTS: Cocaine plasma levels (n=5) rose to 6.73± 0.56 mg/mL. Cocaine did not affect sinus cycle length and arterial pressure. Cocaine prolonged P wave duration (54±6 vs 73±4 ms, P<0.001), PR interval (115±17 vs 164±15 ms, P<0.001), QRS duration (62±10 vs 88±14 ms, P<0.001), and QTc interval (344±28 vs 403±62 ms, P=0.03) but not JT interval (193±35 vs 226±53 ms, NS). Cocaine prolonged PA (9±6 vs 23±8 ms, P<0.001), AH (73±16 vs 92±15 ms; P=0.03), and HV (35±5 vs 45±3ms; P<0.001) intervals and Wenckebach point (247±26 vs 280±28 ms, P=0.04). An increase occurred in atrial (138±8 vs 184± 20 ms; P<0.001) and ventricular (160±15 vs 187±25 ms; P=0.03) refractoriness at a cycle length of 300 ms. Atrial arrhythmias were not induced in any dog. Ventricular fibrillation (VF) was induced in 2/8 dogs at baseline and 4/8 dogs after cocaine. CONCLUSION: High doses of cocaine exert significant class I effects and seem to enhance inducibility of VF but not of atrial arrhythmias.

Detection of incipient left ventricular hypertrophy in mild to moderate arterial hypertension with normal electrocardiogram and echocardiogram: a new use for signal-averaged electrocardiography

OBJECTIVE: To assess signal-averaged electrocardiogram (SAECG) for diagnosing incipient left ventricular hypertrophy (LVH). METHODS: A study with 115 individuals was carried out. The individuals were divided as follows: GI - 38 healthy individuals; GII - 47 individuals with mild to moderate hypertension and normal findings on echocardiogram and ECG; and GIII - 30 individuals with hypertension and documented LVH. The magnitude vector of the SAECG was analyzed with the high-pass cutoff frequency of 40 Hz through the bidirectional four-pole Butterworth high-pass digital filter. The mean quadratic root of the total QRS voltage (RMST) and the two-dimensional integral of the QRS area of the spectro-temporal map were analyzed between 0 and 30 Hz for the frequency domain (Int FD), and between 40 and 250 Hz for the time domain (Int TD). The electrocardiographic criterion for LVH was based on the Cornell Product. Left ventricular mass was calculated with the Devereux formula. RESULTS: All parameters analyzed increased from GI to GIII, except for Int FD (GII vs GIII) and RMST log (GII vs GIII). Int TD showed greater accuracy for detecting LVH with an appropriate cutoff > 8 (sensitivity of 55%, specificity of 81%). Positive values (> 8) were found in 56.5% of the G II patients and in 18.4% of the GI patients (p< 0.0005). CONCLUSION: SAECG can be used in the early diagnosis of LVH in hypertensive patients with normal ECG and echocardiogram.