Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Conclusions Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson`s disease.

The Challenges of Antimicrobial Resistance in Brazil

Brazil is a country with continental proportions with high geographic and economic diversity. Despite its medical centers of excellence, antimicrobial resistance poses a major therapeutic challenge. Rates of methicillin-resistant Staphylococcus aureus are up to 60% and are related to an endemic Brazilian clone. Local resistance to vancomycin in Enterococci was first related to Enterococcus faecalis, which differs from European and American epidemiology. Also, local Klebsiella pneumoniae and Escherichia coli isolates producing extended-spectrum beta-lactamases have a much higher prevalence (40%-50% and 10%-18%, respectively). Carbapenem resistance among the enterobacteriaceae group is becoming a major problem, and K. pneumoniae carbapenemase isolates have been reported in different states. Among nonfermenters, carbapenem resistance is strongly related to SPM-1 (Pseudomonasaeruginosa) and OXA-23 (Acinetobacter baumannii complex) enzymes, and a colistin-only susceptible phenotype has also emerged in these isolates, which is worrisome. Local actions without loosing the global resistance perspective will demand multidisciplinary actions, new policies, and political engagement.

Longitudinal scaling property of the charge balance function in Au plus Au collisions at root s(NN)=200 GeV

We present measurements of the charge balance function, from the charged particles, for diverse pseudorapidity and transverse momentum ranges in Au + Au collisions at root S(NN) = 200 GeV using the STAR detector at RHIC. We observe that the balance function is boost-invariant within the pseudorapidity coverage vertical bar-1.3, 1.3 vertical bar. The balance function properly scaled by the width of the observed pseudorapidity window does not depend on the position or size of the pseudorapidity window. This scaling property also holds for particles in different transverse momentum ranges. In addition, we find that the width of the balance function decreases monotonically with increasing transverse momentum for all centrality classes. (c) 2010 Elsevier B.V. All rights reserved.

Observation of an Antimatter Hypernucleus

Nuclear collisions recreate conditions in the universe microseconds after the Big Bang. Only a very small fraction of the emitted fragments are light nuclei, but these states are of fundamental interest. We report the observation of antihypertritons-comprising an antiproton, an antineutron, and an antilambda hyperon-produced by colliding gold nuclei at high energy. Our analysis yields 70 +/- 17 antihypertritons (3/Lambda(H) over bar) and 157 +/- 30 hypertritons ((3)(Lambda)H). The measured yields of (3)(Lambda)H (3/Lambda(H) over bar) and (3)He ((3)(He) over bar) are similar, suggesting an equilibrium in coordinate and momentum space populations of up, down, and strange quarks and antiquarks, unlike the pattern observed at lower collision energies. The production and properties of antinuclei, and of nuclei containing strange quarks, have implications spanning nuclear and particle physics, astrophysics, and cosmology.

Center of mass energy and system-size dependence of photon production at forward rapidity at RHIC

We present the multiplicity and pseudorapidity distributions of photons produced in Au + Au and Cu + Cu collisions at root(s)NN = 62.4 and 200 GeV. The photons are measured in the region -3.7 < eta < -2.3 using the photon Multiplicity detector in the STAR experiment at RHIC. The number of photons produced per average number of participating nucleon pairs increases with the beam energy and is independent of (lie collision centrality. For collisions with similar average numbers of participating nucleons the photon multiplicities are observed to be similar for An + Au and Cu + Cu collisions at a given beam energy. The ratios of the number of charged particles to photons in the measured pseudorapidity range are found to be 1.4 +/- 0.1 and 1.2 +/- 0.1 for root(s)NN = 62.4 and 200 GeV, respectively. The energy dependence of this ratio could reflect varying contributions from baryons to charged particles, while mesons are the dominant contributors to photon production in the given kinematic region. The photon pseudorapidity distributions normalized by average number of participating nucleon pairs, when plotted as a function of eta-Y(beam), are found to follow a longitudinal scaling independent of centrality and colliding ion species at both beam energies. (C) 2009 Elsevier B.V. All rights reserved.

Observation of the antimatter helium-4 nucleus

High-energy nuclear collisions create an energy density similar to that of the Universe microseconds after the Big Bang(1); in both cases, matter and antimatter are formed with comparable abundance. However, the relatively short-lived expansion in nuclear collisions allows antimatter to decouple quickly from matter, and avoid annihilation. Thus, a high-energy accelerator of heavy nuclei provides an efficient means of producing and studying antimatter. The antimatter helium-4 nucleus ((4)(He) over bar), also known as the anti-alpha ((alpha) over bar), consists of two antiprotons and two antineutrons (baryon number B = -4). It has not been observed previously, although the alpha-particle was identified a century ago by Rutherford and is present in cosmic radiation at the ten per cent level(2). Antimatter nuclei with B -1 have been observed only as rare products of interactions at particle accelerators, where the rate of antinucleus production in high-energy collisions decreases by a factor of about 1,000 with each additional antinucleon(3-5). Here we report the observation of (4)<(He) over bar, the heaviest observed antinucleus to date. In total, 18 (4)(He) over bar counts were detected at the STAR experiment at the Relativistic Heavy Ion Collider (RHIC; ref. 6) in 10(9) recorded gold-on-gold (Au+Au) collisions at centre-of-mass energies of 200 GeV and 62 GeV per nucleon-nucleon pair. The yield is consistent with expectations from thermodynamic(7) and coalescent nucleosynthesis(8) models, providing an indication of the production rate of even heavier antimatter nuclei and a benchmark for possible future observations of (4)(He) over bar in cosmic radiation.

Ways of knowing in ways of moving : A study of the meaning of capability to move

The overall aim of this thesis has been to investigate the meaning of the capability to move in order to identify and describe this capability from the perspective of the one who moves in relation to specific movements. It has been my ambition to develop ways to explicate, and thereby open up for discussion, what might form an educational goal in the context of movements and movement activities in the school subject of physical education and health (PEH). In this study I have used a practical epistemological perspective on capability to move, a perspective that challenges the traditional distinction between mental and physical skills as well as between theoretical and practical knowledge. Movement actions, or ways of moving, are seen as expressions of knowing. In order to explore an understanding of the knowing involved in specific ways of moving, observations of  actors’ ways of moving and their own experiences of moving were brought together. Informants from three different arenas took part: from PEH in upper secondary school, from athletics and from free-skiing. The results of the analyses suggest it is possible to describe practitioners’ developed knowing as a number of specific ways of knowing that are in turn related to specific ways of moving. Examples of such specific ways of moving may be discerning and modifying one’s own rotational velocity and navigating one’s (bodily) awareness. Additionally, exploring learners’ pre-knowing of a movement ‘as something’ may be fruitful when planning the teaching and learning of capability to move. I have suggested that these specific ways of knowing might be regarded as educational goals in PEH. In conducting this study, I have also had the ambition to contribute to the ongoing discussion of what ‘ability’ in the PEH context might mean. In considering specific ways of knowing in moving, the implicit and taken-for-granted meaning of ‘standards of excellence’ and ‘sports ability’can be discussed, and challenged.

Fluoride Intake from Meals Served in Daycare Centres in Municipalities with Different Fluoride Concentrations in the Water Supply

Purpose: The aim of this study was (1) to determine the fluoride content in the meals served to children aged up to 36 months in daycare centres of two municipalities with different levels of fluoride in the water supply, (2) to calculate the mean fluoride ingested daily by the children when consuming those meals and (3) to analyse the contribution of this consumption to the development of dental fluorosisMaterials and Methods: Samples of the meals served to the children were collected during a whole week. The fluoride content of the samples of solid foods and milk was analysed using an ion-specific electrode combined with reference electrode after diffusion facilitated by hexamethyldisiloxane Samples of beverages were buffered with an equal volume of total ionic strength adjustment buffer and analysed using a combined electrode. The results were compared using the Mann Whitney testResults: Mean fluoride contents of the meals were of 0.204 +/- 0 179 and 0.322 +/- 0.242 mu g F/mL (P < 0.05), respectively, in the municipalities with low and adequate fluoride content. Daily fluoride intake in the former was 0.013 +/- 0.003 mg/kg body weight/day and in the latter was 0.012 +/- 0 001 mg/kg body weight/day (P > 0 05)Conclusions: The children were not exposed to dental fluorosis in the daycare centres However, the risk cannot be ignored, considering the meals and the use of fluoridated dentifrices at home may also contribute to fluoride intake.

Anurans of a seasonally dry tropical forest: Morro do Diabo State Park, São Paulo state, Brazil

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

Molecular screening of Plasmodium sp. asymptomatic carriers among transfusion centers from Brazilian Amazon region

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Weather-based prediction of anthracnose severity using artificial neural network models

Data were collected and analysed from seven field sites in Australia, Brazil and Colombia on weather conditions and the severity of anthracnose disease of the tropical pasture legume Stylosanthes scabra caused by Colletotrichum gloeosporioides. Disease severity and weather data were analysed using artificial neural network (ANN) models developed using data from some or all field sites in Australia and/or South America to predict severity at other sites. Three series of models were developed using different weather summaries. of these, ANN models with weather for the day of disease assessment and the previous 24 h period had the highest prediction success, and models trained on data from all sites within one continent correctly predicted disease severity in the other continent on more than 75% of days; the overall prediction error was 21.9% for the Australian and 22.1% for the South American model. of the six cross-continent ANN models trained on pooled data for five sites from two continents to predict severity for the remaining sixth site, the model developed without data from Planaltina in Brazil was the most accurate, with >85% prediction success, and the model without Carimagua in Colombia was the least accurate, with only 54% success. In common with multiple regression models, moisture-related variables such as rain, leaf surface wetness and variables that influence moisture availability such as radiation and wind on the day of disease severity assessment or the day before assessment were the most important weather variables in all ANN models. A set of weights from the ANN models was used to calculate the overall risk of anthracnose for the various sites. Sites with high and low anthracnose risk are present in both continents, and weather conditions at centres of diversity in Brazil and Colombia do not appear to be more conducive than conditions in Australia to serious anthracnose development.

Paulista registry of glomerulonephritis: 5-year data report

Background. The Paulista Registry of Glomerulopathies was created in May 1999 and comprises several centres of São 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.

Home ranges of Guiana dolphins (Sotalia guianensis) (Cetacea: Delphinidae) in the Cananeia estuary, Brazil

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

Discrimination of production environments of specialty coffees by means of stable isotopes and discriminant model

The south of Minas Gerais, Brazil stands out among various regions through its capacity for production of specialty coffees. Its potential, manifested through being one of the most award-winning Brazilian regions in recent years, has been recognized by the Cup of Excellence (COE). With the evident relationship between product quality and the environment in mind, the need arises for scientific studies to provide a foundation for discrimination of product origin, creating new methods for combating possible fraud. The aim of this study was to evaluate the use of carbon and nitrogen isotopes in discrimination of production environments of specialty coffees from the Serra da Mantiqueira of Minas Gerais by means of the discriminant model. Coffee samples were composed of ripe yellow and red fruits collected manually at altitudes below 1,000 m, from 1,000 to 1,200 m and above 1,200 m. The yellow and red fruits were subjected to dry processing and wet processing, with five replications. A total of 119 samples were used for discrimination of specialty coffee production environments by means of stable isotopes and statistical modeling. The model generated had an accuracy rate of 89% in discrimination of environments and was composed of the isotope variables of δ15N, δ13C, %C, %N, δD, δ18O (meteoric water) and sensory analysis scores. In addition, for the first time, discrimination of environments on a local geographic scale, within a single municipality, was proposed and successfully concluded. This shows that isotope analysis is an effective method in verifying geographic origin for specialty coffees.

System size and energy dependence of near-side dihadron correlations

Two-particle azimuthal (Delta phi) and pseudorapidity (Delta eta) correlations using a trigger particle with large transverse momentum (p(T)) in d+Au, Cu+Cu, and Au+Au collisions at root s(NN) = 62.4 GeV and 200 GeV from the STAR experiment at the Relativistic Heavy Ion Collider are presented. The near-side correlation is separated into a jet-like component, narrow in both Delta phi and Delta eta, and the ridge, narrow in Delta phi but broad in Delta eta. Both components are studied as a function of collision centrality, and the jet-like correlation is studied as a function of the trigger and associated p(T). The behavior of the jet-like component is remarkably consistent for different collision systems, suggesting it is produced by fragmentation. The width of the jet-like correlation is found to increase with the system size. The ridge, previously observed in Au+Au collisions at root s(NN) = 200 GeV, is also found in Cu+Cu collisions and in collisions at root s(NN) = 62.4 GeV, but is found to be substantially smaller at root s(NN) = 62.4 GeV than at root s(NN) = 200 GeV for the same average number of participants (< N-part >). Measurements of the ridge are compared to models.