338 resultados para Prenatal Diagnosis
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OBJECTIVE: To report the pattern of occurrence, diagnosis, and treatment of hypertension in a female nursing staff of an emergency hospital. METHODS: We carried out a cross-sectional study that included interviews and blood pressure measurements of 494 nursing professionals at an emergency hospital in the city of Salvador, in the state of Bahia, Brazil. We considered hypertensive all individual with blood pressure > or = 140/90 mmHg or normal pressure if on regular treatment. RESULTS: We found a prevalence of hypertension of 36.4%. Only 18.3% of the individuals ignored their hypertensive condition, and 64.2% admitted not being having regular treatment. Of those individuals who were having treatment, 69.4% had elevated blood pressure on examination. The major reasons for not being on treatment was the occasional elevation of blood pressure (22.2%) and medical counseling (20.0%). CONCLUSION: The results point to the need to introduce hypertension control measures in this occupational group, because of the magnitude of the disease and the potential impact on diffusion of knowledge and measures to control hypertension.
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OBJECTIVE: To assess the intraobserver reliability of the information about the history of diagnosis and treatment of hypertension. METHODS: A multidimensional health questionnaire, which was filled out by the interviewees, was applied twice with an interval of 2 weeks, in July '99, to 192 employees of the University of the State of Rio de Janeiro (UERJ), stratified by sex, age, and educational level. The intraobserver reliability of the answers provided was estimated by the kappa statistic and by the coefficient of intraclass correlation (CICC). RESULTS: The general kappa (k) statistic was 0.75 (95% CI=0.73-0.77). Reliability was higher among females (k=0.88, 95% CI=0.85-0.91) than among males (k=0.62, 95% CI=0.59-0.65).The reliability was higher among individuals 40 years of age or older (k=0.79; 95% CI=0.73-0.84) than those from 18 to 39 years (k=0.52; 95% CI=0.45-0.57). Finally, the kappa statistic was higher among individuals with a university educational level (k=0.86; 95% CI=0.81-0.91) than among those with high school educational level (k=0.61; 95% CI=0.53-0.70) or those with middle school educational level (k=0.68; 95% CI=0.64-0.72). The coefficient of intraclass correlation estimated by the intraobserver agreement in regard to age at the time of the diagnosis of hypertension was 0.74. A perfect agreement between the 2 answers (k=1.00) was observed for 22 interviewees who reported prior prescription of antihypertensive medication. CONCLUSION: In the population studied, estimates of the reliability of the history of medical diagnosis of hypertension and its treatment ranged from substantial to almost perfect reliability.
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This is a case report of a double-outlet left ventricle associated with tricuspid atresia and hypoplasia of the right ventricle, diagnosed during echocardiography with color-flow imaging, in a three-month-old child who presented with fatigue and cyanosis. The child underwent palliative pulmonary arterial banding without an invasive procedure, and showed sustained improvement during follow-up.
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We report 2 cases of transposition of the great arteries associated with anomalous pulmonary venous connection emphasizing the clinical findings, the diagnosis, and the evolution of the association. One of the patients had the anomalous pulmonary venous connection in its total infradiaphragmatic form, in the portal system, and the other patient had a partial form, in which an anomalous connection of the left superior lobar vein with the innominate vein existed. At the time of hospital admission, the patients had cyanosis and respiratory distress with clinical findings suggesting transposition of the great arteries. The diagnosis in 1 of the cases, in which the anomalous connection was partial, was established only with echocardiography, without invasive procedures that would represent risk for the patient; in the other case, in which the anomalous connection was total, the malformation was only evidenced with catheterization. The patients underwent surgery for anatomical correction of the heart disease. Only 1 patient had a good outcome.
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We report the case of an 8-month-old female infant with Uhl's anomaly, who underwent successful cardiac transplantation. The clinical findings, complementary laboratory tests, anatomic findings, and differential diagnosis of the anomaly are discussed.
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We report the case of a 3-year-old female patient, who, since birth, had cyanosis difficult to explain with usual diagnostic tests. The only findings on physical examination were cyanosis and clubbing of her fingers. Chest computerized tomography showed images of excessive attenuation in the right lung, which resembled arteriovenous fistulae that were later confirmed on cardiac catheterization. The fistulous trajectories were then embolized with 7 Gianturco coils, which resulted in an immediate increase in the arterial saturation of blood oxygen.
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
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OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). METHODS - Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis to detect the frequency and the size of GAA expansion, by polymerase chain reaction analysis. RESULTS - Homozygous GAA expansion was detected in 17 patients (68%) -- all typical cases. In 8 (32%) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered Friedreich's ataxia. All patients with GAA expansion (100%) had electrocardiographic abnormalities, and only 25% of the cases without GAA expansion had some abnormality on this exam. However, only 6% of all patients revealed some signals/symptoms suggestive of cardiac involvement. CONCLUSION - A molecular analysis is essential to confirm the diagnosis of Friedreich's ataxia; however, an adequate cardiac evaluation, including an electrocardiogram, was extremely useful to better screening the patients which should perform these molecular analysis.
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OBJECTIVE: To determine the utility of B-type natriuretic peptide (BNP) in the diagnosis of congestive heart failure (CHF) in patients presenting with dyspnea to an emergency department (ED). METHODS: Seventy patients presenting with dyspnea to an ED from April to July 2001 were included in the study. Mean age was 72±16 years and 33 (47%) were male. BNP was measured in all patients at the moment of admission to the ED. Emergency-care physicians, blinded to BNP values, were required to assign a probable initial diagnosis. A cardiologist retrospectively reviewed the data (blinded to BNP measurements) and assigned a definite diagnosis, which was considered the gold standard for assessing the diagnostic performance of BNP. RESULTS: The mean BNP concentration was higher in patients with CHF (n=36) than in those with other diagnoses (990±550 vs 80±67 pg/mL, p<0.0001). Patients with systolic dysfunction had higher BNP levels than those with preserved systolic function (1,180±641 vs 753±437 pg/mL, p=0.03). At a blood concentration of 200 pg/mL, BNP showed a sensitivity of 100%, specificity of 97.1%, positive predictive value of 97.3%, and negative predictive value of 100%. The application of BNP could have potentially corrected all 16 cases in which the diagnosis was missed by the emergency department physician. CONCLUSION: BNP measurement is a useful tool in the diagnosis of CHF in patients presenting to the ED with dyspnea.
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OBJECTIVE: To differentiate the nature of functional cardiorespiratory limitations during exercise in individuals with chronic obstructive pulmonary disease (COPD) or congestive heart failure (CHF) and to determine indicators that may help their classifications. METHODS: The study comprised 40 patients: 23 with COPD and 17 with CHF. All individuals underwent maximal cardiopulmonary exercise testing on a treadmill. RESULTS: The values of peak gas exchange ratio (R peak), peak carbon dioxide production (VCO2 peak), and peak oxygen ventilatory equivalent (V E O2 peak) were higher in the patients with CHF than in those with COPD, and, therefore, those were the variables that characterized the differences between the groups. For group classification, the differentiating functions with the R peak, VCO2 peak (L/min), and V E O2 peak variables were used as follows: group COPD: - 44.886 + 78.832 x R peak + 5.442 x VCO2 peak + 0.336 x V E O2 peak; group CHF: - 69.251 + 89.740 x R peak + 8.461 x VCO2 peak + 0.574 x V E O2 peak. The differentiating function, whose result is greater, correctly classifies the patient's group as 90%. CONCLUSION: The R peak, VCO2 peak, and V E O2 peak values may be used to identify the cause of the functional cardiorespiratory limitations in patients with COPD and CHF.
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OBJECTIVE: To verify the hypothesis that the pulmonary vein pulsatility index is higher in fetuses of diabetic mothers than it is in normal fetuses of nondiabetic mothers. METHODS: Twenty-four fetuses of mothers with either gestational or previous diabetes (cases), and 25 normal fetuses of mothers without systemic disease (control) were examined. Fetuses were examined through prenatal Doppler and color flow mapping. The pulmonary vein pulsatility index was obtained by placing the pulsed Doppler sample volume over the right superior pulmonary vein and applying the formula (systolic velocity - presystolic velocity)/mean velocity. RESULTS: The mean gestational age of the study fetuses was 30.3±2.7 weeks, and gestational age of the controls was 29±3.3 weeks, with no significant difference in gestational age between groups (p=0.14). Fetuses of diabetic mothers had a mean pulmonary vein pulsatility index of 1.6±1, and those of the control group had an index of 0.86±0.27. CONCLUSION: Fetuses of diabetic mothers had pulmonary vein pulsatility indexes (parameter easily obtained through Doppler echocardiography that may be related to fetal diastolic function) higher than those in fetuses of mothers with normal glycemia.
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Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.
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Background: Infant mortality has decreased in Brazil, but remains high as compared to that of other developing countries. In 2010, the Rio Grande do Sul state had the lowest infant mortality rate in Brazil. However, the municipality of Novo Hamburgo had the highest infant mortality rate in the Porto Alegre metropolitan region. Objective: To describe the causes of infant mortality in the municipality of Novo Hamburgo from 2007 to 2010, identifying which causes were related to heart diseases and if they were diagnosed in the prenatal period, and to assess the access to healthcare services. Methods: This study assessed infants of the municipality of Novo Hamburgo, who died, and whose data were collected from the infant death investigation records. Results: Of the 157 deaths in that period, 35.3% were reducible through diagnosis and early treatment, 25% were reducible through partnership with other sectors, 19.2% were non-preventable, 11.5% were reducible by means of appropriate pregnancy monitoring, 5.1% were reducible through appropriate delivery care, and 3.8% were ill defined. The major cause of death related to heart disease (13.4%), which was significantly associated with the variables ‘age at death’, ‘gestational age’ and ‘birth weight’. Regarding access to healthcare services, 60.9% of the pregnant women had a maximum of six prenatal visits. Conclusion: It is mandatory to enhance prenatal care and newborn care at hospitals and basic healthcare units to prevent infant mortality.
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Background: Heart transplant rejection originates slow and fragmented conduction. Signal-averaged ECG (SAECG) is a stratification method in the risk of rejection. Objective: To develop a risk score for rejection, using SAECG variables. Methods: We studied 28 transplant patients. First, we divided the sample into two groups based on the occurrence of acute rejection (5 with rejection and 23 without). In a second phase, we divided the sample considering the existence or not of rejection in at least one biopsy performed on the follow-up period (rejection pm1: 18 with rejection and 10 without). Results: On conventional ECG, the presence of fibrosis was the only criterion associated with acute rejection (OR = 19; 95% CI = 1.65-218.47; p = 0.02). Considering the rejection pm1, an association was found with the SAECG variables, mainly with RMS40 (OR = 0.97; 95% CI = 0.87-0.99; p = 0.03) and LAS40 (OR = 1.06; 95% IC = 1.01-1.11; p = 0.03). We formulated a risk score including those variables, and evaluated its discriminative performance in our sample. The presence of fibrosis with increasing of LAS40 and decreasing of RMS40 showed a good ability to distinguish between patients with and without rejection (AUC = 0.82; p < 0.01), assuming a cutoff point of sensitivity = 83.3% and specificity = 60%. Conclusion: The SAECG distinguished between patients with and without rejection. The usefulness of the proposed risk score must be demonstrated in larger follow-up studies.
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Serum protein abnormalities were examined in six kala-azar (KA) patients, six controls with positive immunofluorescence tests with Leishmania donovani antigens, and six seronegative controls. KA patients were clearly distinguishable from controls by several parameters, including A/G ratio, albumin and globulin levels, IgM and IgG titers, and positive rheumatoid factor (RF) tests. A positive relationship was noted between RF titers and serum levels of IgM. The diagnostic value and possibel pathologic significance of serum abnormalities in KA is discussed.
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Detection of rotavirus RNA by polyacrylamide gel electrophoresis (PAGE) proved to be a highly sensitive and rapid diagnostic test. A comparison of this assay with immuno-electron microscopy (IEM) and enzyme immunoassay (EIA) in 245 faeces from children with gastroenteritis revealed complete agreement between the three assays in 238 (97.14%) samples. Among 75 samples positive in at least one of the three assays, negative results were observed in 5 (6.48%) by PAGE, in 6 (6.76%) by EIA and in none by IEM. Silver staining greatly increased the sensitivity of the PAGE assay. We conclude that although IEM remains the most sensitive and rapid rotavirus diagnostic assay, the PAGE technique has many advantages in its favour, including the non-requirement of expensive equipment, the use of only chemically defined reagents and the capacity to distinguish virus subgroup and variants and to detect non-crossreactive rotaviruses which are missed in serological assays.