Cystic fibrosis with normal sweat chloride concentration: case report

Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

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.

Weight loss and morphometric study of intestinal mucosa in rats after massive intestinal resection: influence of a glutamine-enriched diet

Short-bowel syndrome is responsible for significant metabolic alterations that compromise nutritional status. Glutamine is considered an essential nutrient for enterocytes, so beneficial effects from supplementation of the diet with glutamine are hypothesized. PURPOSE: In this study, the effect of a diet enriched with glutamine was evaluated in rats undergoing extensive small bowel resection, with analysis of postoperative weight loss and intestinal morphometrics of villi height, crypt depth, and thickness of the duodenal and remnant jejunal mucosa. METHODS: Three groups of male Wistar rats were established receiving the following diets: with glutamine, without glutamine, and the standard diet of laboratory ration. All animals underwent an extensive small bowel resection, including the ileocecal valve, leaving a remnant jejunum of only 25 cm from the pylorus that was anastomosed lateral-laterally to the ascendant colon. The animals were weighed at the beginning and end of the experiment (20th postoperative day). Then they were killed and the remnant intestine was removed. Fragments of duodenal and jejunal mucosa were collected from the remnant intestine and submitted to histopathologic exam. The morphometric study of the intestinal mucosa was accomplished using a digital system (KS 300) connected to an optic microscope. Morphometrics included villi height, crypt depth, and the total thickness of intestinal mucosa. RESULTS: The weight loss comparison among the 3 groups showed no significant loss difference. The morphometric studies showed significantly taller duodenal villi in the glutamine group in comparison to the without glutamine group, but not different from the standard diet group. The measurements obtained comparing the 3 groups for villi height, crypt depth, and thickness of the remnant jejunum mucosa were greater in the glutamine-enriched diet group than for the without-glutamine diet group, though not significantly different from with standard-diet group. CONCLUSIONS: In rats with experimentally produced short-bowel syndrome, glutamine-enrichment of an isonitrogenous test diet was associated with an improved adaptation response by the intestinal mucosa but not reduced weight loss. However, the adaptation response in the group receiving the glutamine-enriched diet was not improved over that for the group fed regular chow.

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.

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.

A função mecânica do miocárdio remanescente a um infarto do miocárdio é normal durante o período de cicatrização, embora exista insuficiência cardíaca

OBJETIVO: A relação temporal entre disfunção ventricular (DV) após infarto do miocárdio (IM) e função mecânica do miocárdio remanescente não está estabelecida. O trabalho analisou, por ecodopplercardiograma (ECO), a função ventricular de ratos com IM de grandes dimensões e a função mecânica de músculos papilares (MP) no término do período de cicatrização. MÉTODOS: Estudados ECO e MP de 9 ratos Wistar (IM), três semanas após IM e 9 controles (C). Determinaram-se: tensão desenvolvida (TD) e sua primeira derivada positiva e negativa, tempo de pico de tensão, tensão de repouso e tempo de relaxamento a 50% de TD em concentrações de cálcio (em mM) de 0,5, 1,0, 1,5, 2,0 e 2,5. Após rianodina, foram promovidas contrações tetânicas em concentrações de cálcio de 1,5, 2,5 e 5,0. RESULTADOS: O ECO caracterizou DV com marcada anormalidade do volume diastólico e da fração de ejeção do VE, além de nítido padrão restritivo do fluxo sangüíneo pela valva mitral. Não foi identificada diferença significante entre os dados de mecânica miocárdica dos ratos IM e C. CONCLUSÃO: A insuficiência cardíaca (IC) que ocorre em ratos com IM > 40% do VE, no final do período de cicatrização, não depende de disfunção miocárdica. As modificações estruturais da câmara e a menor população de miócitos devem fundamentar a DV e a IC.

Efeitos da estimulação ventricular convencional em pacientes com função ventricular normal

FUNDAMENTO: A estimulação de ventrículo direito pode ser deletéria em pacientes com disfunção ventricular, entretanto há poucas evidências sobre o impacto dessa estimulação em pacientes com função normal. OBJETIVO: Avaliar a evolução clínica e laboratorial de pacientes com função ventricular normal submetidos a implante de marcapasso cardíaco artificial. MÉTODOS: Foram estudados de forma prospectiva 16 pacientes com os seguintes critérios de inclusão: função ventricular normal definida pelo ecocardiograma e presença de estimulação ventricular superior 90% (avaliação por telemetria do gerador). Parâmetros analisados: classe funcional (CF), teste de caminhada, dosagem de BNP, ecocardiograma (convencional e parâmetros de dessincronia intraventricular e teste de qualidade de vida (SF36). Essas medidas fora feitas com 10 dias(d) (t1), 120d(t2) e 240 d(t3). Os dados foram comparados ao longo do tempo segundo método ANOVA. Comparações múltiplas de médias foram efetuadas utilizando-se o método de Tukey. RESULTADOS: Dos dados avaliados os seguintes não apresentaram variação estatística significante (p>0,05): classe funcional, dosagem de BNP, parâmetros ecocardiográficos convencionais, dessincronia intraventricular (Doppler tecidual). Apresentaram piora (p<0,05) o teste de caminhada (entre t2 e t3) e o tempo entre a contração septal e a parede posterior do ventrículo esquerdo, porém sem preencher critérios de dessincronia. Avaliação de qualidade de vida (SF36) mostrou melhora na capacidade funcional, nos aspectos sociais e estado geral de saúde. CONCLUSÃO: Após oito meses, em pacientes com função normal não foram evidenciadas alterações clínicas (CF e SF 36) e laboratoriais (ecocardiografia convencional, parâmetros de dessincronia e dosagem de BNP); entretanto, houve piora no teste de caminhada.

Insuficiência cardíaca com fração de ejeção normal: novos critérios diagnósticos e avanços fisiopatológicos

A insuficiência cardíaca (IC) é uma complexa síndrome cardiovascular com elevada prevalência, sendo que seu quadro clínico frequentemente é associado à dilatação do ventrículo, à diminuição da contratilidade e à reduzida fração de ejeção do ventrículo esquerdo (FE). Porém, nas últimas duas décadas, estudos têm mostrado que muitos pacientes com sintomas e sinais de IC apresentam FE normal (maior que 50%). A grande dificuldade dos médicos estaria na identificação desses pacientes que apresentam insuficiência cardíaca com fração de ejeção normal (ICFEN). Esta dificuldade parece estar relacionada principalmente a alta complexidade da síndrome e a falta de um método padrão para confirmar ou excluir o diagnóstico, que pudesse ser utilizado rotineiramente na prática clínica. Diferentemente da insuficiência cardíaca com fração de ejeção reduzida (ICFER), em que um único parâmetro - a FE menor que 50% - confirma o diagnóstico da síndrome, na ICFEN diferentes índices diastólicos têm sido empregados para caracterizar a presença ou não da disfunção diastólica (DD). Esta revisão tem o propósito de mostrar novos conceitos relacionados à função diastólica que irão auxiliar no entendimento da fisiopatologia cardiovascular presente na ICFEN. O presente trabalho tem também o objetivo de discutir a nova diretriz da Sociedade Européia de Cardiologia para o diagnóstico e exclusão da ICFEN, baseada nos índices de função cardíaca obtidos pelo ecocardiograma com Doppler tecidual (EDT) e na dosagem do peptídeo natriurético.