Federal University of São Paulo

About: Federal University of São Paulo is a education organization based out in São Paulo, Brazil. It is known for research contribution in the topics: Population & Transplantation. The organization has 27971 authors who have published 49365 publications receiving 935536 citations. The organization is also known as: Universidade Federal de São Paulo & Universidade Federal de Sao Paulo.

Updating the MISEV minimal requirements for extracellular vesicle studies: building bridges to reproducibility.

Abstract: An editorial describing “minimal experimental requirements for definition of extracellular vesicles (EVs)”, or more simply “minimal information for studies of EVs (MISEV)” was published in the Jour...

Dados normativos para o teste de fluencia verbal categoria animais em nosso meio

Abstract: OBJECTIVE: Evaluate the performance on verbal fluency (VF) in our population in a Brazilian sample checking the influence of age and literacy. METHODS: 336 people without neurological or psychiatric complaints evaluated through Mini-Mental State Examination and VF (animals). For comparison, and to determine cut-off points, 65 people with cognitive loss followed at our clinic were also evaluated. RESULTS: We found a mean of 13.8 animals in 1 minute, with the following distribution: illiterates, 11.9; up 4 years of education, 12.8; 4 to 7 years, 13.4; 8 years or more, 15.8 (p= 0.0001). In relation to age the means were: up to 64 years, 13.7; 65 years or more, 13.9. There was no difference between the two groups. The cut-off points were 9 for people under 8 years of education with a sensitivity of 75% for illiterates, 100% for low educational level (up 4 years),and 87% for middle level (4 to 7 years). The specificity was respectively 79%, 84%, and 88%. For the high educational level the mean was 13 with a sensitivity of 86% and specificity of 67%. CONCLUSIONS: In the VF (animals) there is a significant influence of schooling and different cut-off points should be used.

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

Abstract: Pheochromocytomas and paragangliomas are genetically heterogeneous neural crest-derived neoplasms. We recently identified germline mutations of the novel transmembrane-encoding gene FP/TMEM127 in familial and sporadic pheochromocytomas consistent with a tumor suppressor effect.

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Abstract: Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an ∼5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954. Mutational analysis of positional candidate genes was performed, and we describe herein three different mutations, in five different families and in isolated cases, in ANK, a multipass transmembrane protein involved in the transport of intracellular pyrophosphate into extracellular matrix. The mutations are two in-frame deletions and one in-frame insertion caused by a splicing defect. All mutations cluster within seven amino acids in one of the six possible cytosolic domains of ANK. These results suggest that the mutated protein has a dominant negative effect on the function of ANK, since reduced levels of pyrophosphate in bone matrix are known to increase mineralization.

Vitamin D deficiency in patients with active systemic lupus erythematosus

Abstract: We investigated the effects of disease activity on bone metabolism in 36 patients with systemic lupus erythematosus (SLE). Changes in bone remodeling were not explained by corticosteroid use. A high prevalence of 25OHD deficiency in SLE patients indicates the need for vitamin D replacement, mainly during high disease activity periods. We investigated the effects of SLE disease activity on bone metabolism, their relation to inflammatory cytokines and vitamin D levels. We performed a cross-sectional analysis of 36 SLE patients classified according to the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) in high activity (group I: 12 patients, mean age 29.6 years) or in minimal activity (group II: 24 patients, mean age 30.0 years), and compared them to normal controls (group III: 26 women, 32.8 years). Serum calcium, phosphorus, parathyroid and sex hormones, bone remodeling markers, interleukin (IL)-6, soluble IL-6 receptor (sIL-6R), IL-1, tumor necrosis factor-α (TNF), 25-hydroxivitamin D (25OHD), and 1,25-dihydroxyvitamin D3 were measured, plus bone mineral density. All cytokines were significantly higher in SLE groups; IL-6 could differentiate SLE patients from controls. In group I, 25OHD levels were lower (P < 0.05), which was related to the SLEDAI (R = -0.65, P < 0.001). In multiple regression analysis, the 25OHD level was associated with SLEDAI, osteocalcin and bone-specific alkaline phosphatase. The SLEDAI score was positively correlated with all measured cytokines and especially TNF (R = 0.75, P < 0.001). SLE patients demonstrated changes in bone remodeling strongly related to disease activity. A high prevalence of 25OHD deficiency was observed in SLE patients, indicating the need for vitamin D replacement.