University of São Paulo

About: University of São Paulo is a education organization based out in São Paulo, Brazil. It is known for research contribution in the topics: Population & Health care. The organization has 136513 authors who have published 272320 publications receiving 5127869 citations. The organization is also known as: USP & Universidade de São Paulo.

De Novo Copy Number Variants Identify New Genes and Loci in Isolated, Sporadic Tetralogy of Fallot

Abstract: Tetralogy of Fallot (TOF), the most common severe congenital heart malformation, occurs sporadically, without other anomaly, and from unknown cause in 70% of cases. Through a genome-wide survey of 114 subjects with TOF and their unaffected parents, we identified 11 de novo copy number variants (CNVs) that were absent or extremely rare (<0.1%) in 2,265 controls. We then examined a second, independent TOF cohort (n = 398) for additional CNVs at these loci. We identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, OR = 22.3) of nonsyndromic sporadic TOF cases. We also identified recurrent CNVs at 3p25.1, 7p21.3 and 22q11.2. CNVs in a single subject with TOF occurred at six loci, two that encode known (NOTCH1, JAG1) disease-associated genes. Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF.

Absence of suppression in particle production at large transverse momentum in √sNN = 200 GeV d + Au collisions

Abstract: Transverse momentum spectra of charged hadrons with p(T)<8 GeV/c and neutral pions with p(T)<10 GeV/c have been measured at midrapidity by the PHENIX experiment at BNL RHIC in d+Au collisions at sqrt[s(NN)]=200 GeV. The measured yields are compared to those in p+p collisions at the same sqrt[s(NN)] scaled up by the number of underlying nucleon-nucleon collisions in d+Au. The yield ratio does not show the suppression observed in central Au+Au collisions at RHIC. Instead, there is a small enhancement in the yield of high momentum particles.

Intestinal barrier and gut microbiota: Shaping our immune responses throughout life.

Abstract: The gastrointestinal (GI) tract is considered the largest immunological organ in the body having a central role in regulating immune homeostasis. Contrary to earlier belief, the intestinal epithelial barrier is not a static physical barrier but rather strongly interacts with the gut microbiome and cells of the immune system. This intense communication between epithelial cells, immune cells and microbiome will shape specific immune responses to antigens, balancing tolerance and effector immune functions. Recent studies indicate that composition of the gut microbiome affects immune system development and modulates immune mediators, which in turn affect the intestinal barrier. Moreover, dysbiosis may favor intestinal barrier disruption and could be related to increased susceptibility to certain diseases. This review will be focused on the development of the intestinal barrier and its function in host immune defense and how gut microbiome composition throughout life can affect this role.

Brazilian wetlands: their definition, delineation, and classification for research, sustainable management, and protection

Abstract: Although 20% of Brazilian territory is covered by wetlands, wetland inventories are still incomplete. In 1993, Brazil signed the Ramsar Convention but a coherent national policy for the sustainable management and protection of wetlands has yet to be established. Major gaps in the definition of a specific wetland policy are twofold: (1) the lack of standardized criteria by which wetlands are defined and delineated that reflects the specific ecological conditions of the country and (2) the lack of a national classification of wetlands that takes into account specific hydrological conditions and respective plant communities. In recent years, efforts have been made at a regional level to improve public awareness of the ecology of Brazilian wetlands, their benefits to society, and the major threats endangering them. Studies have shown that wetlands play a crucial role in the regional hydrological cycle and provide multiple benefits for local populations. Furthermore, Brazilian wetlands contribute significantly to South American biodiversity. Therefore, wetland conservation and sustainable management should be given high legislative priority. This article provides a synthesis of the current body of knowledge on the distribution, hydrology, and vegetation cover of Brazilian wetlands. Their definition, delineation, and classification at the national level are proposed in order to establish a scientific basis for discussions on a national wetland policy that mandates the sustainable management of Brazil's extremely diverse and complex wetlands. This goal is particularly urgent in the face of the continuing and dramatic deterioration of wetlands resulting from large-scale agro-industrial expansion, and hydroelectric projects as well as the projected impact of global climate change on hydrological cycles.