Evaluation of Toll-Like Receptor 2 and 4 RNA Expression and the Cytokine Profile in Postmenopausal Women with Metabolic Syndrome

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Distribution of serotype-specific genotypes of Aggregatibacter actinomycetemcomitns in Brazilian patients with Down syndrome with different periodontal conditions

Fundação do Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Comparison of different analysis techniques for the determination of muscle onset in individuals with patellofemoral pain syndrome

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development resulting from cholesterol biosynthesis deficiency. A defect in 3ß-hydroxysteroid-delta7-reductase (delta7-sterol-reductase), responsible for the conversion of 7-dehydrocholesterol (7-DHC) to cholesterol, causes an increase in 7-DHC and frequently reduces plasma cholesterol levels. The clinical diagnosis of SLOS cannot always be conclusive because of the remarkable variability of clinical expression of the disorder. Thus, confirmation by the measurement of plasma 7-DHC levels is needed. In the present study, we used a simple, fast, and selective method based on ultraviolet spectrophotometry to measure 7-DHC in order to diagnose SLOS. 7-DHC was extracted serially from 200 µl plasma with ethanol and n-hexane and the absorbance at 234 and 282 nm was determined. The method was applied to negative control plasma samples from 23 normal individuals and from 6 cases of suspected SLOS. The method was adequate and reliable and 2 SLOS cases were diagnosed.

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Modified 'Stent-Graft Sandwich' Technique for Treatment of Isolated Common Iliac Artery Aneurysm in Patient With Marfan Syndrome

Isolated iliac artery aneurysms are rare in the general population (0.03%) and represent 2% of all abdominal aneurysms, and the association with Marfan syndrome is even rarer. We report a Marfan syndrome case with an isolated common iliac artery aneurysm treated by using a modified 'stent-graft sandwich' technique, with preservation of the internal iliac artery perfusion. The modified 'stent-graft sandwich' technique involves building an appropriate proximal neck just in the common iliac artery for fittingly housing two new stent-grafts inside, both deployed simultaneously and each one going to both distal iliac arteries (internal and external).

Cardiovascular assessment of patients with Ullrich-Turner's Syndrome on Doppler echocardiography and magnetic resonance imaging

OBJECTIVE: To assess the cardiovascular features of Ullrich-Turner's syndrome using echocardiography and magnetic resonance imaging, and to correlate them with the phenotype and karyotype of the patients. The diagnostic concordance between the 2 methods was also assessed. METHODS: Fifteen patients with the syndrome were assessed by echocardiography and magnetic resonance imaging (cardiac chambers, valves, and aorta). Their ages ranged from 10 to 28 (mean of 16.7) years. The karyotype was analyzed in 11 or 25 metaphases of peripheral blood lymphocytes, or both. RESULTS: The most common phenotypic changes were short stature and spontaneous absence of puberal development (100%); 1 patient had a cardiac murmur. The karyotypes detected were as follows: 45,X (n=7), mosaics (n=5), and deletions (n=3). No echocardiographic changes were observed. In regard to magnetic resonance imaging, coarctation and dilation of the aorta were found in 1 patient, and isolated dilation of the aorta was found in 4 patients. CONCLUSION: The frequencies of coarctation and dilation of the aorta detected on magnetic resonance imaging were similar to those reported in the literature (5.5% to 20%, and 6.3% to 29%, respectively). This confirmed the adjuvant role of magnetic resonance imaging to Doppler echocardiography for diagnosing cardiovascular alterations in patients with Ullrich-Turner's syndrome.

Genetic polymorphisms associated with steroids metabolism and insulin action in polycystic ovary syndrome

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Metabolic syndrome and its associated risk factors in Brazilian postmenopausal women

Objective To evaluate the prevalence of metabolic syndrome (MetS) and its associated risk factors in Brazilian postmenopausal women.Methods In this cross-sectional study, a total of 368 postmenopausal women, aged 40-75 years, seeking health care at a public outpatient center in Southeastern Brazil, were included. According to the US National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) guidelines, MetS was diagnosed in subjects with three or more of the following: waist circumference >= 88 cm, blood pressure >= 130/85 mHg, triglycerides >= 150 mg/dl, high density lipoprotein cholesterol <50 mg/dl and glucose >= 110 mg/dl. Data on past medical history, tobacco use, anthropometric indicators, and values of C-reactive protein (CRP) were collected. Multivariate analysis, using a logistic regression model (odds ratio, OR) was used to evaluate the influence of various simultaneous MetS risk factors.Results The prevalence of having at least three, four and five MetS diagnostic criteria were met in 39.6%, 16.8% and 3.8% of the cases, respectively. The most prevalent risk factor was abdominal obesity, affecting 62.5% of women. The risk of MetS increased with a personal history of diabetes (OR 5.95, 95% confidence interval (CI) 2.82-12.54), hypertension (OR 4.52, 95% CI 2.89-7.08), cardiovascular disease (OR 2.16, 95% CI 1.18-3.94) and high CRP (>1 mg/dl) (OR 3.35, 95% CI 1.65-6.79). Plasma CRP levels increased with the number of MetS components present. Age, time since menopause and smoking had no influence, while hormone therapy reduced MetS risk (OR 0.64, 95% CI 0.42-0.97).Conclusion Metabolic syndrome was highly prevalent among Brazilian postmenopausal women seeking gynecologic health care. Abdominal obesity, diabetes, hypertension and high CRP were strong MetS predictors and hormone therapy appeared to play a protective role for this condition.

Metabolic syndrome and dementia associated with Parkinson's disease: impact of age and hypertension

Objective: To determine correlations between age and metabolic disorders in Parkinson's disease (PD) patients. Methods: This observational cross-sectional study included brief tests for dementia and the Mattis test. Signals of metabolic syndrome were evaluated. Results: There was no significant effect from the presence of hypertension (OR=2.36 for patients under 65 years old and OR=0.64 for patients over 65), diabetes or hypercholesterolemia regarding occurrences of dementia associated with PD (24% of the patients). The study demonstrated that each year of age increased the estimated risk of dementia in PD patients by 9% (OR=1.09; 95%Cl: 1.01-1.17). Conclusion: There was no evidence to correlate the presence of metabolic syndrome with the risk of dementia that was associated with PD. The study confirmed that dementia in PD is age dependent and not related to disease duration.

Genotyping of AR and PSA polymorphisms in a patient with Klinefelter syndrome, non-Hodgkin lymphoma, and adenocarcinoma of the prostate

It has been hypothesized that the AR (androgen receptor) gene binds the two PSA (prostate-specific antigen) alleles with differing affinities and may differentially influence prostate cancer risk. In this article, we report a case of adenocarcinoma of the prostate in a 56-year-old man with Klinefelter syndrome (47,XXY) and non-Hodgkin lymphoma, as well as the AR and PSA genotype. AR and PSA gene polymorphisms were analyzed by polymerase chain reaction-based methods using DNA from peripheral white blood cells and the prostate cancer. We determined the methylation status of the AR gene on the X chromosome. The patient presents with the AG genotype for the ARE-I (androgen response element) region of the PSA gene. We detect the presence of two short AR alleles with 19 and 11CAG repeats each. Unmethylated alleles were demonstrated for both. The shorter allele was inactive in more than 60% of total DNA in both control blood and prostate cancer cells. The presence of short AR alleles and the G allele of the PSA gene may contribute to the development of prostate cancer in a 47,XXY patient. (C) 2004 Elsevier B.V. All rights reserved.

Metabolic syndrome in overweight children from the city of Botucatu - São Paulo State - Brazil: agreement among six diagnostic criteria

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)