The eleventh reported case of Mulvihill-Smith syndrome in the literature

Background: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentation: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.Conclusions: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV

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

Predictors of Beta-Blocker Intolerance and Mortality in Patients After Acute Coronary Syndrome

Purpose: To investigate the predictors of intolerance to beta-blockers treatment and the 6-month mortality in hospitalized patients with acute coronary syndrome (ACS).Methods: This was a single-center, prospective, and longitudinal study including 370 consecutive ACS patients in Killip class I or II. BBs were prescribed according to international guidelines and withdrawn if intolerance occurred. The study was approved by the institutional ethics committee of our university. Statistics: the clinical parameters evaluated at admission, and the related intolerance to BBs and death at 6 months were analyzed using logistic regression (p<0.05) in PATIENTS.Results: BB intolerance was observed in 84 patients and was associated with no prior use of statins (OR: 2.16, 95%CI: 1.26-3.69, p= 0.005) and Killip class II (OR: 2.5, 95%CI: 1.30-4.75, p=0.004) in the model adjusted for age, sex, blood pressure, and renal function. There was no association with ST-segment alteration or left anterior descending coronary artery plaque. Intolerance to BB was associated with the greatest risk of death (OR: 4.5, 95%CI: 2.15-9.40, p<0.001).Conclusions: After ACS, intolerance to BBs in the first 48 h of admission was associated to non previous use of statin and Killip class II and had a high risk of death within 6 months.

Burnout e enfrentamento em jogadores de futebol: fases pré e durante competição

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

Impaired acuity of the approximate number system in 22q11.2 microdeletion syndrome

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Frequency of HLA-B27 and its alleles in patients with Reiter syndrome: comparison with the frequency in other spondyloarthropathies and a healthy control population

This retrospective study analyzed the HLA-B*27 alleles in a group of 20 consecutive patients with the diagnosis of Reiter syndrome (RS) followed in a tertiary referral university hospital in Brazil, during the period 1990-2006, and compared the data with that observed in other patients with spondyloarthropathies followed at the same institution. Eight cases were associated to gastrointestinal infection, eight cases to previous urethritis, and four cases presented no established preceding infection. HLA-B*27 alleles were typed by polymerase chain reaction-amplified DNA hybridized with sequence-specific oligonucleotide probes (HLA-B*2701 to HLA-B*2721). They were compared to a group of 108 patients with ankylosing spondylitis (AS), 40 with undifferentiated spondyloarthropathy (uSpA) and 111 healthy controls. Among the 20 patients, 17 were HLA-B*27 positive (85%). Two HLA-B*27 alleles were observed: HLA-B*2705 (65%) and HLA-B*2702 (35%). In the other spondyloarthropathies, the observed alleles were HLA-B*2705 (90% in AS and 92.5% in uSpA), HLA-B*2702 (8% in AS and 5% in uSpA), HLA-B*2704 (1% in AS and 2.5% in uSpA) and HLA-B*2713 (1% in AS). Among the 111 healthy controls, 80% presented HLA-B*2705, followed by HLA-B*2702 in 10%, HLA-B*2703 in 6%, HLA-B*2707 in 3% and HLA-B*2713 in 1%. Concluding, in the HLA-B*27 positive patients with RS in this study there was predominance of HLA-B*2705 allele, in a lower frequency than that observed in patients with other spondyloarthropathies and healthy controls.

Evaluation of Clinical and Inflammatory Markers of Nonalcoholic Fatty Liver Disease in Postmenopausal Women with Metabolic Syndrome

Background: The aim of this study was to assess clinical and inflammatory markers in nonalcoholic fatty liver disease (NAFLD) in postmenopausal women with metabolic syndrome.Methods: This cross-sectional study included 180 Brazilian women (age >= 45 years and amenorrhea >= 12 months). Metabolic syndrome was diagnosed by the presence of at least three of the following indicators: Waist circumference (WC) > 88 cm, triglycerides (TGs) >= 150 mg/dL, high-density lipoprotein (HDL) < 50 mg/dL; blood pressure >= 130/85 mmHg; and glucose >= 100 mg/dL. NAFLD was diagnosed by abdominal ultrasound. Participants were divided into three groups: Metabolic syndrome alone (n = 53); metabolic syndrome + NAFLD (n = 67); or absence of metabolic syndrome or NAFLD (control, n = 60). Clinical, anthropometric, and biochemical variables were quantified. The inflammatory profile included adiponectin, interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha). Data were submitted to statistical analysis using a Tukey test, analysis of variance (ANOVA), chi-squared, Pearson correlation, and logistic regression (odds ratio, OR).Results: Women with metabolic syndrome + NAFLD, abdominal obesity, high glucose, and insulin resistance by HOMA-IR were compared to women with metabolic syndrome alone and controls (P < 0.05). High values of IL-6 and TNF-alpha and low values of adiponectin were observed among women with metabolic syndrome alone or metabolic syndrome + NAFLD when compared to controls (P < 0.05). In multivariate analysis, the variables considered as risk of NAFLD development were: High systolic blood pressure (SBP) [(OR 1.02, 95% confidence interval (CI) 1.0-1.04]; large WC (OR 1.07, 95% CI 1.01-1.13); insulin resistance (OR 3.81, 95% CI 2.01-7.13); and metabolic syndrome (OR 8.68, 95% CI 3.3-24.1). Adiponectin levels reduced NAFLD risk (OR 0.88, 95% CI 0.80-0.96).Conclusion: In postmenopausal women, metabolic syndrome, abdominal obesity, and insulin resistance were risk markers for the development of NAFLD, whereas higher adiponectin values indicated a protection marker.

Metabolic Syndrome Criteria As Predictors of Insulin Resistance, Inflammation and Mortality in Chronic Hemodialysis Patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Analysis of criteria for metabolic syndrome in a population-based study of Japanese-Brazilians

Objective: Criteria for metabolic syndrome (MS) differ particularly regarding the definition of central obesity and consequently, there could be differences in the assessment of cardiovascular risk. We estimated the prevalence of metabolic syndrome, compared the agreement of the World Health Organization (WHO) criteria with the standard and a modified National Cholesterol Education Program (NCEP) criterion and investigated whether additional factors were associated with the diagnosis of the syndrome in a Japanese descendant population.Methods: In this cross-sectional, population-based survey, 1166 Japanese-Brazilians (533 men, 633 women) aged 57.4 +/- 12.4 years with mean body mass index (BMI) and waist of 25.2 +/- 4.0 kg/m(2) and 84.5 +/- 10.6 cm, respectively, were included. McNemar and kappa statistics were used to assess the concordance between WHO criteria with the standard and a modified NCEP criteria (waist of 90 and 80 cm, for men and women, respectively). in logistic regression analysis, a number of metabolic variables and albumin-to-creatinine ratio were included to test independent associations with metabolic syndrome defined by the modified NCEP criteria.Results: According to WHO, 55.4% (95% Cl 52.5-58.2%) of the subjects had MS and to NCEP 47.4% (95% Cl 44.6-50.0%). WHO criterion detected 48.3% of central obese subjects while NCEP only 14.0%. Kappa statistics showed a good strength of agreement (k = 0.67, p < 0.01) between WHO and NCEP standard definitions of MS. Using the modified NCEP criterion for Asians, more subjects with metabolic syndrome were identified (58%) and agreement with WHO was improved (k = 0.72, p < 0.001). However, similar Framingham risk scores were attributed to the subsets of subjects classified by any of the three criteria. Areas under the receiver operating characteristic curves, obtained for the modified waist values to diagnose metabolic syndrome according to WHO, were > 0.80 and corresponded, respectively, to sensitivity and specificity of 63 and 83% for men and 77 and 72% for women. In final logistic regression model, age, male sex, BMI and homeostasis model assessment-insulin resistance but not with albumin-to-creatinine ratio (ACR) were independently associated with the syndrome.Conclusions: High prevalence of MS, independent of the criterion considered, was found in this Japanese-Brazilian population. The replacement of waist cutoff by those proposed by WHO for Asians lead to this diagnosis in a higher number of subjects with elevated cardiovascular risk. Our data did not support that ACR should be included in the classical definition of MS in Japanese descendants as previously suggested by WHO.