Será que a Definição de Síndroma Metabólica pela International Diabetes Federation Melhora a Capacidade Preditora para Doença Coronária e do Espessamento da Íntima-Média Carotídea?

BACKGROUND: Metabolic syndrome (MS) is associated with increased incidence of diabetes and atherosclerotic complications. The new definition of the International Diabetes Federation (IDF) increases the population with this entity, compared to the NCEP ATP III definition. OBJECTIVES: To study the prevalence of coronary artery disease (CAD) and carotid intima-media thickness (IMT) in patients with and without MS, according to the NCEP ATP III and IDF definitions, and the predictive ability of carotid IMT for CAD. METHODS: We studied 270 consecutive patients admitted for elective coronary angiography due to suspicion of CAD. All patients underwent ultrasound study of the carotid arteries to measure IMT (the highest value between the right and left common carotid arteries was used in the analysis). Coronary stenosis of > or =70% (or 50% for the left main coronary artery) was considered significant. RESULTS: By the ATP III definition, 14% of the patients had MS, and these patients had a higher prevalence of CAD (87% vs. 63%, p = 0.004), but no significant difference was found for carotid IMT (1.03 +/- 0.36 mm vs. 0.95 +/- 0.35 mm, p=NS). With the IDF definition, 61% of the patients had MS; this group was slightly older and included more women. There were no differences in terms of CAD (68% vs. 63%) or carotid IMT (0.97 +/- 0.34 vs. 0.96 +/- 0.39 mm). On multivariate analysis, the ATP III definition of MS predicts CAD (OR 4.76, 95% CI 1.71-13.25, p = 0.003), but the IDF definition does not (OR 1.29, 95% CI 0.74-2.27, p = 0.37). On ROC curve analysis, an IMT of > or = 0.95 mm predicts CAD (AUC 0.66, p < 0.001), with a sensitivity of 52% and specificity of 75%. CONCLUSIONS: The new IDF definition increases the population with MS, decreasing the capacity to predict the presence of CAD. In our population, neither the ATP III nor the IDF definition showed differences in terms of carotid IMT. Carotid IMT can predict CAD, but with only modest sensitivity.

Primary Antiphospholipid Syndrome: Pregnancy Outcome in a Portuguese Population

Introduction:Women with antiphospholipid syndrome(APS) may suffer from recurrent miscarriage, fetal death, fetal growth restriction (FGR), pre-eclampsia, placental abruption, premature delivery and thrombosis. Treatment with aspirin and low molecular weight heparin (LMWH) combined with close maternal-fetal surveillance can change these outcomes. Objective: To assess maternal and perinatal outcome in a cohort of Portuguese women with primary APS. Patients and Methods: A retrospective analysis of 51 women with primary APS followed in our institution (January 1994 to December 2007). Forty one(80.4%) had past pregnancy morbidity and 35.3%(n=18) suffered previous thrombotic events. In their past they had a total of 116 pregnancies of which only 13.79 % resulted in live births. Forty four patients had positive anticardiolipin antibodies and 33 lupus anticoagulant. All women received treatment with low dose aspirin and LMWH. Results: There were a total of 67 gestations (66 single and one multiple). The live birth rate was 85.1%(57/67) with 10 pregnancy failures: seven in the first and second trimesters, one late fetal death and two medical terminations of pregnancy (one APS related). Mean (± SD) birth weight was 2837 ± 812 g and mean gestational age 37 ± 3.3 weeks. There were nine cases of FGR and 13 hypertensive complications(4 HELLP syndromes). 54.4% of the patients delivered by caesarean section. Conclusions: In our cohort, early treatment with aspirin and LMWH combined with close maternal-fetal surveillance was associated with a very high chance of a live newborn.

Prevalence of Metabolic Syndrome and Diabetes on a High-Risk Population with Suspected Coronary Artery Disease

Objectivos: A prevalência de Sindroma Metabólica (SM) e diabetes é variável consoante a definição utilizada, assim como com a região geográfica e o grupo étnico estudado. Não existem estudos em indivíduos portugueses com suspeita de doença arterial coronária. Analisámos a prevalência de SM e diabetes nesta população específica de doentes, comparando também definições. Métodos: Incluíram-se no estudo 300 indivíduos, com uma idade media de 64 ± 9 anos, 59% do género masculino, admitidos para angiografia coronária electiva, tendo sido excluídos os doentes com doença cardíaca previamente conhecida. Avaliou-se a prevalência de SM e de diabetes. Resultados: A prevalência ajustada de SM foi de 39,3% (critério NCEP-ATP III), 53,8% (critério IDF) e 48,4% (critério AHA/NHLBI). A prevalência ajustada de diabetes foi de 14,8% pela definição prévia da ADA e de 36.4% com a definição mais recente. A concordância global entre as definições de SM foi de 45,3%, sendo mais elevada entre as definições da AHA/NHLBI e da NCEP-ATP III (Kappa 0,821). A prevalência de SM está altamente dependente da idade em ambos os géneros, sendo mais prevalente no género feminino. A prevalência de diabetes é também dependente da idade, sendo semelhante em ambos os géneros. O componente de SM mais frequente é a hipertensão arterial, seguido pela obesidade abdominal, elevação da glicose, colesterol-HDL baixo e finalmente elevação dos triglicéridos. É também importante referir que 60% dos doentes estavam sob terapêutica hipolipemiante (56,6% com estatinas, 1,7% com fibratos e 1,7% com ambos). A diferença mais significativa entre géneros no que diz respeito aos componentes de SM é a elevada prevalência de obesidade abdominal no género feminino. Conclusões: Nesta população de alto risco, a prevalência de SM é elevada, sendo contudo a prevalência de diabetes semelhante à registada em estudos epidemiológicos na população geral.

Optimal Cut-Off Value for Homeostasis Model Assessment (HOMA) Index of Insulin-Resistance in a Population of Patients Admitted Electively in a Portuguese Cardiology Ward

INTRODUCTION: Insulin resistance is the pathophysiological key to explain metabolic syndrome. Although clearly useful, the Homeostasis Model Assessment index (an insulin resistance measurement) hasn't been systematically applied in clinical practice. One of the main reasons is the discrepancy in cut-off values reported in different populations. We sought to evaluate in a Portuguese population the ideal cut-off for Homeostasis Model Assessment index and assess its relationship with metabolic syndrome. MATERIAL AND METHODS: We selected a cohort of individuals admitted electively in a Cardiology ward with a BMI < 25 Kg/m2 and no abnormalities in glucose metabolism (fasting plasma glucose < 100 mg/dL and no diabetes). The 90th percentile of the Homeostasis Model Assessment index distribution was used to obtain the ideal cut-off for insulin resistance. We also selected a validation cohort of 300 individuals (no exclusion criteria applied). RESULTS: From 7 000 individuals, and after the exclusion criteria, there were left 1 784 individuals. The 90th percentile for Homeostasis Model Assessment index was 2.33. In the validation cohort, applying that cut-off, we have 49.3% of individuals with insulin resistance. However, only 69.9% of the metabolic syndrome patients had insulin resistance according to that cut-off. By ROC curve analysis, the ideal cut-off for metabolic syndrome is 2.41. Homeostasis Model Assessment index correlated with BMI (r = 0.371, p < 0.001) and is an independent predictor of the presence of metabolic syndrome (OR 19.4, 95% CI 6.6 - 57.2, p < 0.001). DISCUSSION: Our study showed that in a Portuguese population of patients admitted electively in a Cardiology ward, 2.33 is the Homeostasis Model Assessment index cut-off for insulin resistance and 2.41 for metabolic syndrome. CONCLUSION: Homeostasis Model Assessment index is directly correlated with BMI and is an independent predictor of metabolic syndrome.

Validation of Two US Risk Scores for Percutaneous Coronary Intervention in a Single-Center Portuguese Population of Patients with Acute Coronary Syndrome

INTRODUCTION: New scores have been developed and validated in the US for in-hospital mortality risk stratification in patients undergoing coronary angioplasty: the National Cardiovascular Data Registry (NCDR) risk score and the Mayo Clinic Risk Score (MCRS). We sought to validate these scores in a European population with acute coronary syndrome (ACS) and to compare their predictive accuracy with that of the GRACE risk score. METHODS: In a single-center ACS registry of patients undergoing coronary angioplasty, we used the area under the receiver operating characteristic curve (AUC), a graphical representation of observed vs. expected mortality, and net reclassification improvement (NRI)/integrated discrimination improvement (IDI) analysis to compare the scores. RESULTS: A total of 2148 consecutive patients were included, mean age 63 years (SD 13), 74% male and 71% with ST-segment elevation ACS. In-hospital mortality was 4.5%. The GRACE score showed the best AUC (0.94, 95% CI 0.91-0.96) compared with NCDR (0.87, 95% CI 0.83-0.91, p=0.0003) and MCRS (0.85, 95% CI 0.81-0.90, p=0.0003). In model calibration analysis, GRACE showed the best predictive power. With GRACE, patients were more often correctly classified than with MCRS (NRI 78.7, 95% CI 59.6-97.7; IDI 0.136, 95% CI 0.073-0.199) or NCDR (NRI 79.2, 95% CI 60.2-98.2; IDI 0.148, 95% CI 0.087-0.209). CONCLUSION: The NCDR and Mayo Clinic risk scores are useful for risk stratification of in-hospital mortality in a European population of patients with ACS undergoing coronary angioplasty. However, the GRACE score is still to be preferred.

Under-Report and Underdiagnosis of Chronic Respiratory Diseases in an African Country

BACKGROUND: Chronic respiratory diseases (CRD) are greatly underestimated. The aim of this study was to assess the burden associated with reported CRD and chronic obstructive pulmonary disease, as defined on the basis of various standardized criteria, by estimating their point prevalence in a sample of individuals attending the Primary Health Care (PHC) level and Emergency Room (ER) Departments in Cape Verde (CV) archipelago. The second aim of the study was to identify factors related to airways obstruction and reported CRD in this population. METHODS: A cross-sectional study was carried out in CV during 2 weeks. Outpatients aged more than 20 years seeking care at PHC level and ER answered a standardized questionnaire and were subjected to spirometry, independently of their complaint. Two criteria for airways obstruction were taken into account: forced expiratory volume (FEV(1)) <80% of the predicted value and FEV(1)/forced vital capacity (FVC) ratio <0.70. RESULTS: A total of 274 individuals with a satisfactory spirometry were included. 22% of the individuals had a FEV(1) < 80%. Individuals older than 46 years had a higher risk of having airways obstruction. Asthma diagnosis (11%) had a clear association with airways obstruction. Smoking was a risk factor for a lower FEV(1). Working in a dust place and cooking using an open fire were both related to chronic bronchitis and asthma diagnosis. CONCLUSION: Under-report and underdiagnosis of chronic respiratory conditions seem to be a reality in CV just as in other parts of the world. To improve diagnosis, our results reinforce the need of performing a spirometry

Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portuguese Population

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.