Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet still underrepresented in genomic databanks. We hereby present a collection of exomic variants from 609 ...elderly Brazilians in a census‐based cohort (SABE609) with comprehensive phenotyping. Variants were deposited in ABraOM (Online Archive of Brazilian Mutations), a Web‐based public database. Population representative phenotype and genotype repositories are essential for variant interpretation through allele frequency filtering; since elderly individuals are less likely to harbor pathogenic mutations for early‐ and adult‐onset diseases, such variant databases are of great interest. Among the over 2.3 million variants from the present cohort, 1,282,008 were high‐confidence calls. Importantly, 207,621 variants were absent from major public databases. We found 9,791 potential loss‐of‐function variants with about 300 mutations per individual. Pathogenic variants on clinically relevant genes (ACMG) were observed in 1.15% of the individuals and were correlated with clinical phenotype. We conducted incidence estimation for prevalent recessive disorders based upon heterozygous frequency and concluded that it relies on appropriate pathogenicity assertion. These observations illustrate the relevance of collecting demographic data from diverse, poorly characterized populations. Census‐based datasets of aged individuals with comprehensive phenotyping are an invaluable resource toward the improved understanding of variant pathogenicity.
Genomic variants from highly admixed populations are still underrepresented in public databases. ABraOM is a publicly available web database, currently harboring variants from 609 WES data of an elderly population representative cohort of São Paulo metropolis. Over 200K high confidence variants absent from major databases were identified. About 1% of the individuals carry ACMG possibly actionable LoF variants. Reliable pathogenicity assertions remain challenging and elderly cohorts are an invaluable resource to enhance variant interpretation efficacy.
The present paper compared, through life cycle assessment (LCA), the production of aviation biofuel from two hydrothermal routes of microalgae cultivated in wastewater. Hydrothermal liquefaction ...(HTL) and gasification followed by Fischer-Tropsch synthesis (G + FT) were compared. Both routes included biomass production, hydrotreatment for biofuel upgrading, and product fractionation. Secondary data obtained from the literature were used for the cradle-to-gate LCA. G + FT had a higher impact than HTL in the 18 impact categories assessed, with human carcinogenic toxicity exerting the most harmful pressure on the environment. The catalysts were the inputs that caused the most adverse emissions. The solvent used for bio-oil separation also stood out in terms of impacts. In HTL, emissions for global warming were −51.6 g CO2 eq/MJ, while in G + FT, they were 250 g CO2 eq/MJ. At the Endpoint level, HTL resulted in benefits to human health and ecosystems, while G + FT caused environmental damage in these two categories, as well as in the resources category. In the improvement scenarios, besides considering solid, aqueous, and gaseous products as co-products rather than just as waste/emissions, a 20% reduction in catalyst consumption and 90% recovery were applied. Thus, in HTL, 39.47 kg CO2 eq was avoided, compared to 35.44 kg CO2 eq in the base scenario. In G + FT, emissions decreased from 147.55 kg CO2 eq to the capture of 8.60 kg CO2 eq.
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•Gasification + Fischer-Tropsch caused more impacts than liquefaction.•The environment has suffered more harmful pressure on human carcinogenic toxicity.•The catalysts used were the inputs that most caused adverse emissions.•Liquefaction route captured 39.47 kg CO2 eq with improvement scenario.•Gasification + Fischer-Tropsch captured 8.6 kg CO2 eq with the improvement scenario.
Background
Childhood-onset systemic lupus erythematosus (cSLE) is an autoimmune and multifactorial disease that can affect the renal system. Exposure to air pollution can trigger systemic ...inflammation in cSLE patients and increase risk of disease activity. We evaluated effects of individual real-time exposure to air pollutants on renal activity in cSLE patients using the
Systemic Lupus Erythematosus Disease Activity Index 2000
.
Methods
Longitudinal panel study of 108 repetitive measures from 9 pediatric lupus patients. Over three consecutive weeks, daily individual levels of fine particulate matter (PM
2.5
) and nitrogen dioxide (NO
2
) were measured, as well as weekly clinical evaluation and laboratory tests. This was repeated every 10 weeks over a 1-year period. Specific generalized estimating equation models were used to evaluate the impact of these pollutants on risk of nephritis and anti-dsDNA > 20 UI/mL and on 24-h urine protein and serum complement (C3) levels.
Results
An interquartile range (IQR) increase of 18.12 μg/m
3
in PM
2.5
daily concentration was associated with increased risk of nephritis and positive results for anti-dsDNA. Moreover, increase in 24-h urine protein and decrease in C3 serum levels also associated with exposure to pollutants. An IQR increase in PM
2.5
7-day moving average was associated with increased risks of leukocyturia (3.4; 95% CI 2.6:4.3), positive anti-dsDNA (3.1; 95% CI 2.1:4.0), and 36.3-mg increase (95% IC 20.2:52.3) in 24-h urine protein. An IQR increase (63.1 μg/m
3
) in 7-day cumulative NO
2
levels was associated with decreased serum C3 levels.
Conclusions
This prospective study suggests exposure to air pollution can trigger renal activity in cSLE patients.
Onychopetalum is an Amazonian botanical genus close-related with Bocageopsis and Unonopsis, whose species are used in traditional medicine. Although these genera are widely investigated from the ...phytochemical viewpoint, the knowledge about Onychopetalum remains almost unexplored. In order to perform a comprehensive characterization of isoquinoline-derived alkaloids from Onychopetalum amazonicum, an integrative approach based on the alkaloid profile analysis by leaf spray mass spectrometry (LS-MS), followed by a robust dereplication through high-performance liquid chromatography coupled with diode array detector and atmospheric pressure chemical ionization tandem mass spectrometry, (HPLC-DAD-APCI-MS/MS) and nuclear magnetic resonance (NMR) analysis was adopted. LS-MS allowed the tentative identification of reticuline, norjuziphine, nornuciferine, O-methylisopiline, nuciferine, N-methyl-O-methylisopiline, anonaine, and N-methylanonaine. HPLC-DAD-MS/MS analysis supported the tentative identification of N-methylasimilobine, asimilobine, norushinsunine, N-methylisopiline, isopiline, liriodenine, and lysicamine. Moreover, the integration of MS and NMR data allowed the additional identification of stepholidine and isocorypalmine. The applied integrative approach proposed herein enabled a comprehensive analysis of the alkaloid content from the O. amazonicum, showing to be a useful strategy for the dereplication of isoquinoline-derived alkaloids.
Sorghum bicolor (L.) (Moench), which stands out for dry matter yield per hectare, has been considered as potential raw material for biofuels and electricity generation. It has a production cycle of ...six months, possibility of mechanization of cultivation and harvest and good adaptation to most regions of Brazil. Sorghum genotypes were evaluated for agronomic potential and chemical composition favorable to the production of second-generation ethanol. Three brown midrib (bmr) sorghum mutant hybrids were compared to three conventional hybrids. The bmr sorghum mutant hybrids are associated with reduced lignin content, making these genotypes more promising to the enzymatic conversion processes of the biomass. Sorghum biomass showed a high potential in terms of biomass production, with an average dry matter yield of 26.57 Mg ha−1. Brown midrib sorghum hybrids showed significantly lower lignin contents than conventional hybrids and demonstrated the potential for cellulosic ethanol production.
•Sorghum biomass presented high biomass production potential.•The genotypes as brown midrib sorghum mutant hybrids differ in amount of lignin in relation to the conventional genotypes.•There was no interaction between genotypes and environments.
This paper examines the evolution of Brazil's Family Health Strategy coverage from the findings of the 2013 and 2019 National Health Survey censuses. Indicators included Family Health Clinic coverage ...of residents and households, frequency of visits by Community Health Workers, and usual source of care, all stratified by rural and urban areas, Brazilian regions, states, education of the household head, and income quintile. In 2019, 60.0% of households were enrolled in a Family Health Clinic, and population coverage was 62.6%. Coverage was higher in rural than in urban areas in the Northeast and South regions. Between 2013 and 2019, coverage increased by 11.6%, while monthly health worker visits decreased. Coverage was highest among the most vulnerable population, as defined by the household head education level or by the family income. Availability of usual source of care was highest among those enrolled in a Family Health Clinic. The 2019 National Health Survey findings confirm that Brazil's Family Health Strategy continues to be an equitable policy and the main SUS' Primary Health Care model. However, recent changes in the national policy guidance, which are weakening the community approach and the priority given to the Family Health Strategy Program, may jeopardize those gains.
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•The impacts of distinct red bet edible parts on human colonic microbiota were investigated.•Red beet roots and stem/leaves altered the abundance of distinct colonic bacterial ...groups.•Red beet roots (RBR) and stem/leaves (RBSL) had positive prebiotic indexes.•RBR and RBSL affected the production of metabolites during colonic fermentation.•RBR and RBSL increased the antioxidant capacity in colonic fermentation media.
This study investigated the effects of freeze-dried red beet root (FDBR) and freeze-dried red beet stem and leaves (FDBSL) on target bacterial groups and metabolic activity of human colonic microbiota in vitro. The capability of FDBR and FDBSL to cause alterations in the relative abundance of different selected bacterial groups found as part of human intestinal microbiota, as well as in pH values, sugar, short-chain fatty acid, phenolic compounds, and antioxidant capacity were evaluated during 48 h of in vitro colonic fermentation. FDBR and FDBSL were submitted to simulated gastrointestinal digestion and freeze-dried prior to use in colonic fermentation. FDBR and FDBSL overall increased the relative abundance of Lactobacillus spp./Enterococcus spp. (3.64–7.60%) and Bifidobacterium spp. (2.76–5.78%) and decreased the relative abundance of Bacteroides spp./Prevotella spp. (9.56–4.18%), Clostridium histolyticum (1.62–1.15%), and Eubacterium rectale/Clostridium coccoides (2.33–1.49%) during 48 h of colonic fermentation. FDBR and FDBSL had high positive prebiotic indexes (>3.61) during colonic fermentation, indicating selective stimulatory effects on beneficial intestinal bacterial groups. FDBR and FDBSL increased the metabolic activity of human colonic microbiota, evidenced by decreased pH, sugar consumption, short-chain fatty acid production, alterations in phenolic compound contents, and maintenance of high antioxidant capacity during colonic fermentation. The results indicate that FDBR and FDBSL could induce beneficial alterations in the composition and metabolic activity of human intestinal microbiota, as well as that conventional and unconventional red beet edible parts are candidates to use as novel and sustainable prebiotic ingredients.
Severe neurological complications following arbovirus infections have been a major concern in seasonal outbreaks, as reported in the Northeast region of Brazil, where the same mosquito transmitted ...Zika (ZIKV), Dengue (DENV), and Chikungunya (CHIKV) viruses. In this study, we evaluated the levels of 36 soluble markers, including cytokines, chemokines, growth factors, and soluble HLA-G (Luminex and ELISA) in: i) serum and cerebrospinal fluid (CSF), during the acute phase and two years after the infection (recovery phase, only serum), ii) the relationship among all soluble molecules in serum and CSF, and iii) serum of infected patients without neurological complications, during the acute infection. Ten markers (sHLA-G, IL-10, IL-22, IL-8, MIP-1α, MIP-1β, MCP-1, HGF, VEGF, and IL-1RA) exhibited differential levels between the acute and recovery phases, with pronounced increases in MIP-1α (
<0.0001), MCP-1 (
<0.0001), HGF (
= 0.0001), and VEGF (
<0.0001) in the acute phase. Fourteen molecules (IL-1β, IL-2, IL-3, IL-4, IL-5, IL-6, IL-7, IL-9, IL-13, IL-15, IL-17A, IFN-α, TNF, and G-CSF) exhibited distinct levels between arbovirus patients presenting or not neurological complications. IL-8, EGF, IL-6, and MCP-1 levels were increased in CSF, while RANTES and Eotaxin levels were higher in serum. Soluble serum (IL-22, RANTES, Eotaxin) and CSF (IL-8, EGF, IL-3) mediators may discriminate putative risks for neurological complications following arbovirus infections. Neurological complications were associated with the presence of a predominant inflammatory profile, whereas in non-complicated patients an anti-inflammatory profile may predominate. Mediators associated with neuroregeneration (EGF and IL-3) may be induced in response to neurological damage. Broad spectrum immune checkpoint molecules (sHLA-G) interact with cytokines, chemokines, and growth factors. The identification of soluble markers may be useful to monitor neurological complications and may aid in the development of novel therapies against neuroinflammation.
During the past decade, sweet sorghum (Sorghum bicolor Moench L.) has shown great potential for bioenergy production, especially biofuels. In this study, 223 recombinant inbred lines (RILs) derived ...from a cross between two sweet sorghum lines (Brandes × Wray) were evaluated in three trials. Single-nucleotide polymorphisms (SNPs) derived from genotyping by sequencing of 272 RILs were used to build a high-density genetic map comprising 3,767 SNPs spanning 1,368.83 cM. Multitrait multiple interval mapping (MT-MIM) was carried out to map quantitative trait loci (QTL) for eight bioenergy traits. A total of 33 QTLs were identified for flowering time, plant height, total soluble solids and sucrose (five QTLs each), fibers (four QTLs), and fresh biomass yield, juice extraction yield, and reducing sugars (three QTLs each). QTL hotspots were found on chromosomes 1, 3, 6, 9, and 10, in addition to other QTLs detected on chromosomes 4 and 8. We observed that 14 out of the 33 mapped QTLs were found in all three trials. Upon further development and validation in other crosses, the results provided by the present study have a great potential to be used in marker-assisted selection in sorghum breeding programs for biofuel production.
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