Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance. When MI occurs early in life, genetic inheritance is a major component to risk. ...Previously, rare mutations in low-density lipoprotein (LDL) genes have been shown to contribute to MI risk in individual families, whereas common variants at more than 45 loci have been associated with MI risk in the population. Here we evaluate how rare mutations contribute to early-onset MI risk in the population. We sequenced the protein-coding regions of 9,793 genomes from patients with MI at an early age (≤50 years in males and ≤60 years in females) along with MI-free controls. We identified two genes in which rare coding-sequence mutations were more frequent in MI cases versus controls at exome-wide significance. At low-density lipoprotein receptor (LDLR), carriers of rare non-synonymous mutations were at 4.2-fold increased risk for MI; carriers of null alleles at LDLR were at even higher risk (13-fold difference). Approximately 2% of early MI cases harbour a rare, damaging mutation in LDLR; this estimate is similar to one made more than 40 years ago using an analysis of total cholesterol. Among controls, about 1 in 217 carried an LDLR coding-sequence mutation and had plasma LDL cholesterol > 190 mg dl(-1). At apolipoprotein A-V (APOA5), carriers of rare non-synonymous mutations were at 2.2-fold increased risk for MI. When compared with non-carriers, LDLR mutation carriers had higher plasma LDL cholesterol, whereas APOA5 mutation carriers had higher plasma triglycerides. Recent evidence has connected MI risk with coding-sequence mutations at two genes functionally related to APOA5, namely lipoprotein lipase and apolipoprotein C-III (refs 18, 19). Combined, these observations suggest that, as well as LDL cholesterol, disordered metabolism of triglyceride-rich lipoproteins contributes to MI risk.
Abstract Chagas disease (American trypanosomiasis) is caused by the protozoan parasite Trypanosoma cruzi . Chagas disease following solid-organ transplantation has occurred in Latin America. This ...report presents the occurrence of Chagas disease despite negative serological tests in both the donor and the recipient, as well as the effectiveness of treatment. A 21-year-old woman from the state of Sao Paulo (Brazil) underwent cadaveric donor liver transplantation in November 2005, due to cirrhosis of autoimmune etiology. Ten months after liver transplantation, she developed signs and symptoms of congestive heart failure (New York Heart Association functional class IV). The echocardiogram, which was normal preoperatively, showed dilated cardiac chambers, depressed left ventricular systolic function (ejection fraction = 35%) and moderate pulmonary hypertension. Clinical investigation discarded ischemic heart disease and autoimmune and other causes for heart failure. Immuno fluorescence (immunoglobulin M and immunoglobulin G) and hemagglutination tests for T cruzi were positive, and abundant T cruzi amastigotes were readily identified in myocardial biopsy specimens. Treatment with benznidazole for 2 months yielded an excellent clinical response. At the moment of submission, the patient remains in functional class I. This case highlighted that more appropriate screening for T cruzi infection is mandatory in potential donors and recipients of solid-organ transplants in regions where Chagas disease is prevalent. Moreover, it stressed that this diagnosis should always be considered in recipients who develop cardiac complications, since negative serological tests do not completely discard the possibility of disease transmission and since good results can be achieved with prompt trypanocidal therapy.
•Symptoms and severity of hepatitis A increase with age and in vulnerable patients.•Hepatitis A notification and hospitalisation rates are decreasing in Europe.•In Europe, increasing age at ...hospitalisation is not reflected in increased severity.•In Europe, older patients with liver diseases remain at increased risk of severe disease.
We analysed hepatitis A (HepA) notifications and hospitalisations in Italy, the Netherlands, Norway, Spain, and Sweden for available periods between 1995 and 2014. We aimed to investigate whether decreasing HepA incidence is associated with increasing age at infection and worsening HepA presentation and to identify groups at risk of severe disease.
We performed a retrospective cohort study including 36 734 notified and 36 849 hospitalised patients. We used negative binomial regressions to identify over time: i) trends in hospitalisation and notification rates; ii) proportion of hospitalised and notified patients aged ≥40 years; iii) proportion of “severe hospitalisations”; and iv) risk factors for severe hospitalisation.
During the study period both HepA notifications and hospitalisations decreased, with notification rates decreasing faster, patients aged ≥40 years increased, however, the proportion of severe HepA hospitalisations remained stable. Older patients and patients with comorbidities, particularly liver diseases, were more likely to experience severe disease.
We used digitalised health information to confirm decreasing trends in HepA hospitalisations and notifications, and the increasing age of patients with HepA in Europe. We did not identify an increase in the severity of the clinical presentation of patients with HepA. Older patients with liver diseases are at increased risk of severe disease and should be prioritised for vaccination.
Riverine nitrogen distribution is increasingly controlled by anthropogenic activities in their watersheds, regardless of spatial scale, climate, and geographical zone. Consequently, modelling efforts ...to predict the export of nitrogen from rivers worldwide have used attributes such as population density, land use, urbanization and sanitation. These models have greatly enhanced our understanding of the sources and fate of nitrogen added to terrestrial systems and transported to rivers and streams, especially for developed countries of the North temperate zone. However, much of the world's population lives in developing countries of the tropics, where the effects of human activities on riverine N exports are still poorly understood. In an effort to close this gap, we compare riverine nitrogen data from 32 Brazilian rivers draining two contrasting regions in this tropical country in terms of economic development - the State of São Paulo and the Amazon. Our data include nitrogen in different dissolved forms, such as Dissolved Inorganic Nitrogen (DIN) and Dissolved Organic Nitrogen (DON). The results show that nitrogen concentrations decreased as river runoff increased in both study areas, and that concentrations were significantly higher in rivers draining the most economically developed region. The relationships between nitrogen concentrations and fluxes with demographic parameters such as population density were also determined and compared to those in temperate systems. In contrast to temperate watersheds, we found that nitrogen fluxes increased only after population densities were higher than 10 individuals per km².
We analyzed the influence of emissions from burning sugar cane on the respiratory system during almost 1 year in the city of Piracicaba in southeast Brazil. From April 1997 through March 1998, ...samples of inhalable particles were collected, separated into fine and coarse paniculate mode, and analyzed for black carbon and tracer elements. At the same time, we examined daily records of children (< 13 years of age) and elderly people (> 64 years of age) admitted to the hospital because of respiratory diseases. Generalized linear models were adopted with natural cubic splines to control for season and linear terms to control for weather. Analyses were carried out for the entire period, as well as for burning and nonburning periods. Additional models were built using three factors obtained from factor analysis instead of particles or tracer elements. Increases of $10.2 \mu g/m^3$ in particles $\leq 2.5 \mu m/m^3$ aerodynamic diameter (PM2.5) and $42.9 \mu g/m^3$ in PM10 were associated with increases of 21.4% 95% confidence interval (CI), 4.3-38.5 and 31.03% (95% CI, 1.25-60.21) in child and elderly respiratory hospital admissions, respectively. When we compared periods, the effects during the burning period were much higher than the effects during nonburning period. Elements generated from sugar cane burning (factor 1) were those most associated with both child and elderly respiratory admissions. Our results show the adverse impact of sugar cane burning emissions on the health of the population, reinforcing the need for public efforts to reduce and eventually eliminate this source of air pollution.
Summary Introduction Lower urinary tract dysfunction (LUTD) involves faults in the filling and emptying phases of bladder function in toilet-trained children with no previous infection or any other ...obvious pathology. Lower urinary tract dysfunction is associated with conditions such as vesicoureteral reflux, recurrent urinary infection, behavioral alterations and decreased quality of life. The literature suggests an association between LUTD and obesity; however, the association between each individual symptom and obesity has yet to be evaluated. Objective To evaluate the association between excess weight and LUTD in children and adolescents in a community-based sample. Study design This cross-sectional study included 423 children and adolescents aged 5-17 years, and randomly selected in public places and schools between May and July 2015. The participants and their mothers completed the Dysfunctional Voiding Scoring System (DVSS) questionnaire, except for the questions on constipation and with the addition of a question on enuresis. They also completed the Rome III questionnaire, in which two positive responses defined the presence of constipation. Participants were classified as being of normal weight, overweight or obese, which was based on the BMI-for-age indicator. Results Mean age was 9.7 years (SD 2.9), with girls comprising 50.6% of the sample and adolescents 52.5%. The prevalence of LUTD was 7.1%, with 13.5% of participants being overweight and 12.1% obese. Constipation was present in 5.9% of participants and enuresis in 10.8%. In the multivariate analysis, three factors were independently and significantly associated with a positive DVSS: age <10 years (β=0.76; 95% CI: 0.34-1.18), constipation (β=1.79; 95% CI: 0.88-2.70) and obesity (β=0.89; 95% CI: 0.25-1.52). Discussion Only bladder filling symptoms were associated with obesity. This may be explained by the fact that both obese individuals and those with emptying symptoms were shown to have activation alterations in the same brain regions. One limitation of this study was the use of questionnaires alone to diagnose LUTD and constipation. Conclusion Only the bladder-emptying symptoms of LUTD appear to be associated with obesity. This hypothesis may serve as a basis for future studies.
•Most of the shoyu produced in Brazil has a low content of soy and a higher content of maize.•The law in Brazil allows the presence of maize as an ingredient in shoyu.•The price of soybean is higher ...than maize and it is probably the main reason for this discrepancy.
Carbon and nitrogen (N) isotopic compositions were used to test the presence of C4 carbon in soy sauces (shoyu) produced in Brazil. Seventy samples of Brazilian shoyu were analyzed and compared with the same product from Japan, China, Singapore, Taiwan, and United States. The average (±standard-deviation) δ13C of the Brazilian shoyu was −15.0 ± 3.4. The average (±standard-deviation) δ13C of five shoyu samples from Japan was −25.2 ± 0.6‰. The δ13C of shoyu from US (−25.3‰) and Singapore (−25.9‰) were close to Japanese samples. Shoyu δ13C values from China were equal to −20‰ and −15.4‰, and from Taiwan equal to −20.2‰. The average δ15N value of Brazilian shoyu was 0.3 ± 1.2‰. The variability of δ15N values among shoyu from other countries was much lower than Brazilian shoyu, and the average was 1.4 ± 0.3‰. Using a simple isotopic mass balance, we estimated that most of the shoyu in Brazil contains <20% soy, and the dominant cereal is maize, probably because in Brazil maize is cheaper than soybean.
The viability of small-scale heavy-metal waste immobilization into iron phosphate glasses was investigated. Several waste forms containing different amounts of heavy-ion wastes were evaluated (5%, ...10%, 15%, 20%, 26%, 33%, 40% and 50% by mass) and their X-ray diffraction patterns revealed that no crystallization occurred in glasses with waste concentrations up to 26%. The dissolution rates for all of the reported glass compositions (ca. 10-8 g cm-2 min-1) are similar to those reported for the materials most commonly used for waste vitrification. Iron phosphate glasses thus proved to be very useful for the immobilization of heavy-metal wastes, exhibiting good contention and chemical durability comparable to that of borosilicate glasses.
The Atlantic Forest is one of the most important biomes of Brazil. Originally covering approximately 1.5 million of km², today this area has been reduced to 12% of its original size. Climate changes ...may alter the structure and the functioning of this tropical forest. Here we explore how increases in temperature and changes in precipitation distribution could affect dynamics of carbon and nitrogen in coastal Atlantic Forest of the southeast region of Brazil The main conclusion of this article is that the coastal Atlantic Forest has high stocks of carbon and nitrogen above ground, and especially, below ground. An increase in temperature may transform these forests from important carbon sinks to carbon sources by increasing loss of carbon and nitrogen to the atmosphere. However, this conclusion should be viewed with caution because it is based on limited information. Therefore, more studies are urgently needed to enable us to make more accurate predictions.
Structural features of lead iron phosphate glasses Reis, S.T.; Faria, D.L.A.; Martinelli, J.R. ...
Journal of non-crystalline solids,
06/2002, Letnik:
304, Številka:
1
Journal Article, Conference Proceeding
Recenzirano
Lead iron–phosphate glasses were investigated for use as wasteform because of their improved chemical durability. There is a controversy if lead should or should not be used in iron phosphate ...glasses, and on the role of Fe in the inhibition of corrosion. The structure of the 43.3PbO·13.7Fe
2O
3·43P
2O
5 (mol%) glass, which has a dissolution rate in aqueous solution at 90 °C of 1.26×10
−9 g/cm
−2
min
−1, and the same O/P ratio, 3.5, as the lead-free 40Fe
2O
3·60P
2O
5 glass, was investigated. Glass samples were produced by melting batches of Fe
2O
3, PbO, and NH
4H
2PO
4 at 1100 °C for 1 h, and pouring the liquid into steel mold. Samples were annealed at 450 °C for 3 h. Some samples were crystallized by heating at 700 °C for 24 h. X-ray diffraction, Mössbauer, EPR, infrared, and Raman scattering spectroscopy were performed and compared to spectra obtained after crystallization. The crystalline phase Fe
2Pb(P
2O
7)
2 was identified after crystallization. The hyperfine parameters from the Mössbauer spectrum indicates that Fe
2+ and Fe
3+ ions are in octahedral coordination, and some of the Fe
3+ ions in the starting batch are reduced to Fe
2+ ions after melting. The infrared and Raman scattering spectra are representative of a mixture of chain-terminating Q
1 species and chain-forming Q
2 species. No Raman bands related to PO vibrations and Q
0 species were observed. From the EPR measurements it is concluded that all Fe
3+ ions are not constrained to central positions of tetrahedral and octahedral sites of the glass formers.
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