Introns 1 and 22 inversions and factor VIII inhibitors in patients with severe haemophilia A in southern Brazil

Summary.  A total of 107 unrelated severe haemophilia A patients living in the southern Brazilian state of Rio Grande do Sul were studied in relation to the prevalence of inversions present in introns 22 and 1 and a subsample of them (95) tested for the presence of Factor VIII inhibitors. These data were then incorporated with those from 15 other countries and 3871 patients. The frequencies of these two inversions show a remarkable homogeneity in series collected in different continents, from people with diverse ethnic extraction. The prevalence of inhibitors among patients with inversion 22, on the other hand, varies widely (5–51%; seven countries, 1482 patients), the value observed by us being the highest. The importance of obtaining data from patients throughout the world to clarify the aetiology of this important complicating factor in the therapeutics of the disease is emphasized.     

Cytokine gene variants and venous thrombotic risk in the BRATROS (BRAZILIAN THROMBOSIS STUDY)

INTRODUCTION: Venous thrombosis (VT) and inflammation are two closely related entities. In the present investigation we assessed whether there is a relation between genetic modifiers of the inflammatory response and the risk of VT. MATERIALS AND METHODS: 420 consecutive and unrelated patients with an objective diagnosis of deep VT and 420 matched controls were investigated. The frequencies of the following gene polymorphisms were determined in all subjects: TNF-alpha-308 G/A, LT-alpha+252 A/G, IL-6-174 G/C, IL1-ra 86 bp VNTR, IL-10-1082 A/G and CD-31 125 C/G. RESULTS: Overall odds ratio (OR) for VT related to TNF-alpha-308 G/A, LT-alpha+252 A/G, IL-6-174 G/C, A1 allele (4 bp repeat) of the IL1-ra 86 bp VNTR, IL-10-1082 A/G and CD-31 125 C/G were respectively: 1.0 (CI95: 0.8-1.5), 1.3 (CI95: 1.0-1.7), 1.1 (CI95: 0.9-1.5), 1.6 (CI95: 1-2.5), 1.2 (CI95: 0.8-1.7) and 0.8 (CI95: 0.6-1.1). A possible interaction between polymorphisms was observed only for the co-inheritance of the mutant alleles of the LT-alpha+252 A/G and IL-10-1082 G/A polymorphisms (OR=2; CI95: 1.1-3.8). The risk of VT conferred by factor V Leiden and FII G20210A was not substantially altered by co-inheritance with any of the cytokine gene polymorphisms. CONCLUSIONS: Cytokine gene polymorphisms here investigated did not significantly influence venous thrombotic risk.     

No association between SNP309 promoter polymorphism in the MDM2 and cervical cancer in a study from northeastern Brazil

Background: A functional variant in the MDM2 promoter (a T/G substitution, SNP309) was found to be associated with increased expression of MDM2 gene products and at significantly earlier age onset of tumors in both hereditary Li-Fraumeni individuals and sporadic cancer patients. We tested the hypothesis that this functional variant was associated with either risk or early age diagnosis of cervical cancer in a Brazilian population. Methods: A primer-introduced restriction analysis PCR assay was used to genotype the MDM2 SNP309 of 72 cervical carcinoma patients and 100 healthy women. Results: No statistically significant association was observed between SNP309 and cervical cancer. We did not find allele or genotype frequency differences between the group of patients with cancer diagnosis at an early age (younger than 40 years old) and the group of older patients. Conclusions: Our findings suggest that SNP309 MDM2 may not be a risk factor for cervical cancer.     

Methicillin-resistant Staphylococcus aureus carrying SCCmec type II was more frequent than the Brazilian endemic clone as a cause of nosocomial bacteremia

Fifty consecutive MRSA blood isolates were evaluated: 30(60%) carried SCCmec type II (single PFGE clone; sequence type 5 or ST105); 12 (26%), IV; 5 (10%), III; 3 (6%), I. Brazilian endemic clone, carrying SCCmec type III, has been the main nosocomial clone in Brazil; however, this study showed that a clone carrying type II predominated.     

Sustainability of cosmetic products in Brazil

Background  The most recent research in the area of cosmetics to sustainability has focused on obtaining formulations rich in nontraditional oils and butters from seeds and fruits native to Brazilian tropical flora. These have contributed to aggregate value for the raw materials and involvement of small farms forming rural production in Brazil, since the plants are cultivated in preservation areas sponsored by companies who are partners in the Government Program for Brazilian Sustainability. Given that the oils extracted from seeds have the potential to replace these cutaneous constituents, it has been verified that new products of strong commercial impact show an increasing tendency to incorporate in their formulas the oils of plants grown in Brazilian soil.     

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles

Cystic fibrosis (CF) is a genetic disease that frequently leads to death in infancy among Europeans and their descendants. The goals of the present study were to analyze the molecular aspects of CFTR gene characterizing mutations, their frequencies, and the haplotypes formed by four CFTR gene intragenic markers, IVS8-6(T)n, IVS8CA, IVS17bTA and IVS17bCA, in a southern Brazilian population of Caucasian origin. DNA samples from 56 non-related CF patients were analyzed using scanning techniques (single strand conformation polymorphism and denaturing gradient gel electrophoresis), restriction fragment length polymorphism and direct DNA sequencing to identify the mutations. Our results revealed a total of 25 different CF mutations representing nearly 90% of CF alleles, two being novel mutations. Microsatellite haplotypes were defined for CF and normal alleles. The mutational spectrum and the associated haplotypes described for the first time in this study should prove relevant for genetic counselling and CF population screening in Brazil. Moreover, our results suggest the presence of a major Mediterranean component in the contemporary Brazilian CF patient pool.     

Intrapocket topical anesthetic versus injected anesthetic for pain control during scaling and root planing in adult patients: Systematic review and meta-analysis

Background

In this systematic review and meta-analysis, the authors evaluated the pain during scaling and root planing with use of topical anesthetic versus that with the use of injected anesthetic in adult patients.

Cardiometabolic risk factors and Framingham Risk Score in severely obese patients: Baseline data from DieTBra trial

Background and aimsLittle is known about differences of cardiometabolic risk factors (CMRF) and the function of Framingham Risk Score (FRS) within severe obesity, thus we aimed to study not only CMRF and FRS, but to determine significant differences between BMI ranges within severe obesity.Methods and resultsIn this baseline analysis of the Traditional Brazilian Diet (DieTBra) Trial, several CMRF were assessed in 150 adult patients in two BMI ranges: 35.0–44.9 kg/m² (n = 76) and ≥45 kg/m² (n = 74). Body composition was evaluated by multifrequency bioelectrical impedance analysis to measure the percent of body fat, visceral fat area and waist circumference. Pearson's Chi-squared, Fisher's Exact, Student's t-test, and Mann–Whitney's test were used in the statistical analysis with a 5% significance level. Hypertension, C-reactive protein, systolic and diastolic blood pressure and positive family history for heart diseases were more prevalent in BMI ≥45.0 kg/m² (p < 0.05). Mean values of waist circumference, body fat %, visceral fat area, and systolic blood pressure were significantly higher in patients with BMI ≥45.0 kg/m². Regarding the function of FRS, 40.0% of the patients were at high risk. No differences were found for diabetes, lifestyle, lipid parameters, and FRS within different BMI ranges, except for dyslipidemia, significantly higher among participants with BMI 35.0–44.9 kg/m².ConclusionBMI >45 kg/m² was associated with higher prevalence of hypertension, systolic and diastolic blood pressure, C-reactive protein, waist circumference, body fat % and family history of heart diseases, enhancing the risk for the occurrence of cardiovascular diseases.     

Paulista Registry of glomerulonephritis: 5-year data report.

BACKGROUND: The Paulista Registry of Glomerulopathies was created in May 1999 and comprises several centres of S?o Paulo, the most populous Brazilian State, that concentrates people from all regions of the country who look for health care. METHODS: This report includes data from 2086 patients from Brazil submitted to renal biopsy due to the presumed diagnosis of glomerular diseases, registered prospectively since May 1999 until January 2005. Data were collected by the integrants of the 11 centres involved, utilizing a standardized questionnaire. RESULTS: The mean age of the patients was 34.5+/-14.6 years. Primary glomerular diseases were more frequent in males (55.1%) than in females; on the other hand, secondary glomerular diseases were more frequent in females (71.8%). The most common clinical presentation was nephrotic syndrome and the frequency of hypertension, at this time, was 55.5%. There was a predominance of indication of biopsies in the third, fourth and fifth decades of life. The most common primary glomerular diseases were focal and segmental glomerulosclerosis (29.7%), followed by membranous nephropathy (20.7%), IgA nephropathy (17.8%), minimal change disease (9.1%), membranoproliferative glomerulonephritis (7%), crescentic glomerulonephritis (4.1%), advanced chronic glomerulopathy (4%), non-IgA mesangial glomerulonephritis (3.8%), diffuse proliferative glomerulonephritis (2.5%), focal segmental proliferative glomerulonephritis (1%) and others (0.3%). The most frequent secondary glomerular disease was lupus nephritis, corresponding to 66.2% of the cases, followed by post-infectious glomerulonephritis (12.5%), diabetic nephropathy (6.2%), diseases associated to paraproteinaemia (4.9%), hereditary diseases (4.6%), vasculitis (3.2%), malignancies (0.9.%), secondary focal segmental glomerulosclerosis (0.6%) and others (0.9%). CONCLUSION: Focal segmental glomerulosclerosis was the most frequent primary glomerular disease, followed by membranous nephropathy and IgA nephropathy. Lupus nephritis predominated over all the other secondary glomerular diseases.