Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients

Background:Familial amyloidotic polyneuropathy (FAP) is a rare disease diagnosed in Brazil and worldwide. The frequency of cardiovascular involvement in Brazilian FAP patients is unknown.Objective:Detect the frequency of cardiovascular involvement and correlate the cardiovascular findings with the modified polyneuropathy disability (PND) score.Methods:In a national reference center, 51 patients were evaluated with clinical examination, electrocardiography (ECG), echocardiography (ECHO), and 24-hour Holter. Patients were classified according to the modified PND score and divided into groups: PND 0, PND I, PND II, and PND > II (which included PND IIIa, IIIb, and IV). We chose the classification tree as the statistical method to analyze the association between findings in cardiac tests with the neurological classification (PND).Results:ECG abnormalities were present in almost 2/3 of the FAP patients, whereas ECHO abnormalities occurred in around 1/3 of them. All patients with abnormal ECHO also had abnormal ECG, but the opposite did not apply. The classification tree identified ECG and ECHO as relevant variables (p < 0.001 and p = 0.08, respectively). The probability of a patient to be allocated to the PND 0 group when having a normal ECG was over 80%. When both ECG and ECHO were abnormal, this probability was null.Conclusions:Brazilian patients with FAP have frequent ECG abnormalities. ECG is an appropriate test to discriminate asymptomatic carriers of the mutation from those who develop the disease, whereas ECHO contributes to this discrimination.

Validation of a Brazilian Portuguese Version of the Walking Estimated-Limitation Calculated by History (WELCH)

Abstract Background: The Walking Estimated-Limitation Calculated by History (WELCH) questionnaire has been proposed to evaluate walking impairment in patients with intermittent claudication (IC), presenting satisfactory psychometric properties. However, a Brazilian Portuguese version of the questionnaire is unavailable, limiting its application in Brazilian patients. Objective: To analyze the psychometric properties of a translated Brazilian Portuguese version of the WELCH in Brazilian patients with IC. Methods: Eighty-four patients with IC participated in the study. After translation and back-translation, carried out by two independent translators, the concurrent validity of the WELCH was analyzed by correlating the questionnaire scores with the walking capacity assessed with the Gardner treadmill test. To determine the reliability of the WELCH, internal consistency and test–retest reliability with a seven-day interval between the two questionnaire applications were calculated. Results: There were significant correlations between the WELCH score and the claudication onset distance (r = 0.64, p = 0.01) and total walking distance (r = 0.61, p = 0.01). The internal consistency was 0.84 and the intraclass correlation coefficient between questionnaire evaluations was 0.84. There were no differences in WELCH scores between the two questionnaire applications. Conclusion: The Brazilian Portuguese version of the WELCH presents adequate validity and reliability indicators, which support its application to Brazilian patients with IC.

The Relationship between GRACE Score and Epicardial Fat Thickness in non-STEMI Patients

Abstract Background: GRACE risk score (GS) is a scoring system which has a prognostic significance in patients with non-ST segment elevation myocardial infarction (non-STEMI). Objective: The present study aimed to determine whether end-systolic or end-diastolic epicardial fat thickness (EFT) is more closely associated with high-risk non-STEMI patients according to the GS. Methods: We evaluated 207 patients who had non-STEMI beginning from October 2012 to February 2013, and 162 of them were included in the study (115 males, mean age: 66.6 ± 12.8 years). End-systolic and end-diastolic EFTs were measured with echocardiographic methods. Patients with high in-hospital GS were categorized as the H-GS group (in hospital GS > 140), while other patients were categorized as the low-to-moderate risk group (LM-GS). Results: Systolic and diastolic blood pressures of H-GS patients were lower than those of LM-GS patients, and the average heart rate was higher in this group. End-systolic EFT and end-diastolic EFT were significantly higher in the H-GS group. The echocardiographic assessment of right and left ventricles showed significantly decreased ejection fraction in both ventricles in the H-GS group. The highest correlation was found between GS and end-diastolic EFT (r = 0.438). Conclusion: End-systolic and end-diastolic EFTs were found to be increased in the H-GS group. However, end-diastolic EFT and GS had better correlation than end-systolic EFT and GS.

Potential Utility of the SYNTAX Score 2 in Patients Undergoing Left Main Angioplasty

Abstract Background: The revascularization strategy of the left main disease is determinant for clinical outcomes. Objective: We sought to 1) validate and compare the performance of the SYNTAX Score 1 and 2 for predicting major cardiovascular events at 4 years in patients who underwent unprotected left main angioplasty and 2) evaluate the long-term outcome according to the SYNTAX score 2-recommended revascularization strategy. Methods: We retrospectively studied 132 patients from a single-centre registry who underwent unprotected left main angioplasty between March 1999 and December 2010. Discrimination and calibration of both models were assessed by ROC curve analysis, calibration curves and the Hosmer-Lemeshow test. Results: Total event rate was 26.5% at 4 years.The AUC for the SYNTAX Score 1 and SYNTAX Score 2 for percutaneous coronary intervention, was 0.61 (95% CI: 0.49-0.73) and 0.67 (95% CI: 0.57-0.78), respectively. Despite a good overall adjustment for both models, the SYNTAX Score 2 tended to underpredict risk. In the 47 patients (36%) who should have undergone surgery according to the SYNTAX Score 2, event rate was numerically higher (30% vs. 25%; p=0.54), and for those with a higher difference between the two SYNTAX Score 2 scores (Percutaneous coronary intervention vs. Coronary artery by-pass graft risk estimation greater than 5.7%), event rate was almost double (40% vs. 22%; p=0.2). Conclusion: The SYNTAX Score 2 may allow a better and individualized risk stratification of patients who need revascularization of an unprotected left main coronary artery. Prospective studies are needed for further validation.

Konzeption einer Benutzerschnittstelle sowie Realisierung von Usability– und UI-Tests im Rahmen der prototypischen Entwicklung einer Android-App für eine Crowdtesting-Plattform

[s.c.]

Hausman tests for inefficient estimators: application to demand for health care service (revised)

The Hausman (1978) test is based on the vector of differences of two estimators. It is usually assumed that one of the estimators is fully efficient, since this simplifies calculation of the test statistic. However, this assumption limits the applicability of the test, since widely used estimators such as the generalized method of moments (GMM) or quasi maximum likelihood (QML) are often not fully efficient. This paper shows that the test may easily be implemented, using well-known methods, when neither estimator is efficient. To illustrate, we present both simulation results as well as empirical results for utilization of health care services.

The black-white test score gap widens with age?

We re-examine the theoretical concept of a production function for cognitive achievement, and argue that an indirect production function that depends upon the variables that constrain parents' choices is both moretractable from an econometric point of view, and more interesting from an economic point of view than is a direct production function that depends upon a detailed list of direct inputs such as number of books in the household. We estimate flexible econometric models of indirect production functions for two achievement measures from the Woodcock-Johnson Revised battery, using data from two waves of the Child Development Supplement to the PSID. Elasticities of achievement measures with respect to family income and parents' educational levels are positive and significant. Gaps between scores of black and white children narrow or remain constant as children grow older, a result that differs from previous findings in the literature. The elasticities of achievement scores with respect to family income are substantially higher for children of black families, and there are some notable difference in elasticities with respect to parents' educational levels across blacks and whites.

Thermal tests on the LISA pathfinder engineering model

Report for the scientific sojourn carried out at Albert Einstein Institut in Germany, from April to July 2006.

Indirect immunofluorescence(IgG and IgM) tests for toxoplasmosis on 203 persons, with no symptomatology suggesting the disease, located in the city of Rio de Janeiro. Serological follow up one to two years later.

Clinical and serological follow up examinations were performed on 203 persons, from three to twenty years of age, from the otolaryngology department of a hospital in the city of Rio de Janeiro, with no symptomatology suggesting toxoplasmosis, but suffering from chronic tonsillitis. According to results obtained during the first indirect immunofluorescence tests, the patients were divided into following groups: Group I (non-reactive IgG and IgM), 98 persons (48.3%); Group II (1:16 ≤ IgG ≤ 1:256 and non-reactive IgM), 74 persons (36.5%); Group III (IgM ≥ 1:1024 and non-reactive IgM), 18 persons (8.8%), and Group IV (IgG and IgM reactive), 13 persons (6.4%). One to two years later, 131 (64.5%) of the 203 persons were reexamined by a second indirect immunofluorescence test. In the case of 66 persons (Group I) whose serum was non-reactive in the IgG and IgM classes during the first indirect immunofluorescence test, serum conversion was observed in aproximately 21.2%. in 65 individuals (49.6%), (Groups II, III and IV),with reactive serum in the IgG classes during the first indirect immunofluorescence test, the second reaction showed an increase in titres in 20% of the cases, a decrease in 67.7% of the cases, or no alterations in 12.3 of the cases. In the IgM class, all 131 sera were non-reactive at 116 dilution the second immunofluorescence test, including the 13 cases that had previously been reactive in the immunoglobulin class, Symptomatology suggesting toxoplasmosis was only observed in one case during the second testing, this patient's principal physical sign being hypertrophied lymph nodes. during this period, the Toxoplasma antibodies showed titres of IgG 1:32000 and non-reactive IgM, whilst one year previously, during the first test, these titres were IgG 1:1024 and IgM 1:64. Differences in the age, sex and skin coloring of patients were not statistically significant as regards alterations in the indirect immunofluorescence test titres.

Diagnostic d'embolie pulmonaire: problématique résiduelle des D-dimères faussement positifs [The unresolved issue of false-positive D-dimer results in the diagnostic workup of pulmonary embolism].

The unresolved issue of false-positive D-dimer results in the diagnostic workup of pulmonary embolism Pulmonary embolism (PE) remains a difficult diagnosis as it lacks specific symptoms and clinical signs. After the determination of the pretest PE probability by a validated clinical score, D-dimers (DD) is the initial blood test in the majority of patients whose probability is low or intermediate. The low specificity of DD results in a high number of false-positives that then require thoracic angio-CT. A new clinical decision rule, called the Pulmonary Embolism Rule-out criteria (PERC), identifies patients at such low risk that PE can be safely ruled-out without a DD test. Its safety has been confirmed in US emergency departments, but retrospective European studies showed that it would lead to 5-7% of undiagnosed PE. Alternative strategies are needed to reduce the proportion of false-positive DD results.

In postmenopausal women with osteoporosis, denosumab significantly improved trabecular bone score (TBS), an index of trabecular microarchitecture

Background/Purpose: The trabecular bone score (TBS), a novel graylevel texture index determined from lumbar spine DXA scans, correlates with 3D parameters of trabecular bone microarchitecture known to predict fracture. TBS may enhance the identification of patients at increased risk for vertebral fracture independently of bone mineral density (BMD) (Boutroy JBMR 2010; Hans JBMR 2011). Denosumab treatment for 36 months decreased bone turnover, increased BMD, and reduced new vertebral fractures in postmenopausal women with osteoporosis (Cummings NEJM 2009). We explored the effect of denosumab on TBS over 36 months and evaluated the association between TBS and lumbar spine BMD in women who had DXA scans obtained from eligible scanners for TBS evaluation in FREEDOM. Methods: FREEDOM was a 3-year, randomized, double-blind trial that enrolled postmenopausal women with a lumbar spine or total hip DXA T-score __2.5, but not __4.0 at both sites. Women received placebo or 60 mg denosumab every 6 months. A subset of women in FREEDOM participated in a DXA substudy where lumbar spine DXA scans were obtained at baseline and months 1, 6, 12, 24, and 36. We retrospectively applied, in a blinded-to-treatment manner, a novel software program (TBS iNsightR v1.9, Med-Imaps, Pessac, France) to the standard lumbar spine DXA scans obtained in these women to determine their TBS indices at baseline and months 12, 24, and 36. From previous studies, a TBS _1.35 is considered as normal microarchitecture, a TBS between 1.35 and _1.20 as partially deteriorated, and 1.20 reflects degraded microarchitecture. Results: There were 285 women (128 placebo, 157 denosumab) with a TBS value at baseline and _1 post-baseline visit. Their mean age was 73, their mean lumbar spine BMD T-score was _2.79, and their mean lumbar spine TBS was 1.20. In addition to the robust gains in DXA lumbar spine BMD observed with denosumab (9.8% at month 36), there were consistent, progressive, and significant increases in TBS compared with placebo and baseline (Table & Figure). BMD explained a very small fraction of the variance in TBS at baseline (r2_0.07). In addition, the variance in the TBS change was largely unrelated to BMD change, whether expressed in absolute or percentage changes, regardless of treatment, throughout the study (all r2_0.06); indicating that TBS provides distinct information, independently of BMD. Conclusion: In postmenopausal women with osteoporosis, denosumab significantly improved TBS, an index of lumbar spine trabecular microarchitecture, independently of BMD.

Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.

AIMS/HYPOTHESIS: Several susceptibility genes for type 2 diabetes have been discovered recently. Individually, these genes increase the disease risk only minimally. The goals of the present study were to determine, at the population level, the risk of diabetes in individuals who carry risk alleles within several susceptibility genes for the disease and the added value of this genetic information over the clinical predictors. METHODS: We constructed an additive genetic score using the most replicated single-nucleotide polymorphisms (SNPs) within 15 type 2 diabetes-susceptibility genes, weighting each SNP with its reported effect. We tested this score in the extensively phenotyped population-based cross-sectional CoLaus Study in Lausanne, Switzerland (n = 5,360), involving 356 diabetic individuals. RESULTS: The clinical predictors of prevalent diabetes were age, BMI, family history of diabetes, WHR, and triacylglycerol/HDL-cholesterol ratio. After adjustment for these variables, the risk of diabetes was 2.7 (95% CI 1.8-4.0, p = 0.000006) for individuals with a genetic score within the top quintile, compared with the bottom quintile. Adding the genetic score to the clinical covariates improved the area under the receiver operating characteristic curve slightly (from 0.86 to 0.87), yet significantly (p = 0.002). BMI was similar in these two extreme quintiles. CONCLUSIONS/INTERPRETATION: In this population, a simple weighted 15 SNP-based genetic score provides additional information over clinical predictors of prevalent diabetes. At this stage, however, the clinical benefit of this genetic information is limited.

High fat versus high carbohydrate nutritional supplementation: a one year trial in stunted rural Gambian children.

OBJECTIVE: The study tests the hypothesis that a low daily fat intake may induce a negative fat balance and impair catch-up growth in stunted children between 3 and 9y of age. DESIGN: Randomized case-control study. SETTING: Three rural villages of the West Kiang District, The Gambia. SUBJECTS: Three groups of 30 stunted but not wasted children (height for age z-score < or = -2.0, weight for height z-score > or = -2.0) 3-9 y of age were selected by anthropometric survey. Groups were matched for age, sex, village, degree of stunting and season. INTERVENTION: Two groups were randomly assigned to be supplemented five days a week for one year with either a high fat (n = 29) or a high carbohydrate biscuit (n = 30) each containing approximately 1600 kJ. The third group was a non supplemented control group (n = 29). Growth, nutritional status, dietary intake, resting energy expenditure and morbidity were compared. RESULTS: Neither the high fat nor the high carbohydrate supplement had an effect on weight or height gain. The high fat supplement did slightly increase adipose tissue mass. There was no effect of supplementation on resting energy expenditure or morbidity. In addition, the annual growth rate was not associated with a morbidity score. CONCLUSIONS: Results show that neither a high fat nor a high carbohydrate supplement given during 12 months to stunted Gambian children induced catch-up growth. The authors suggest that an adverse effect of the environment on catch-up growth persists despite the nutritional interventions.