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1.
DEVELOPMENT AND VALIDATION OF A METHODOLOGY FOR QUANTIFICATION OF WHEY PROTEIN FRACTIONS IN MICROPARTICULATE INGREDIENTS
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Paula, Igor L. de
; Cunha, Carolina N.
; Pinto, Caroline B. A.
; Vitral, Júlia M. P. M.
; Lazzarini, Paola F.
; Costa, Juliana de C. da
; Tavares, Guilherme M.
; Perrone, Ítalo T.
; Oliveira, Luiz Fernando C. de
; Stephani, Rodrigo
.
Microparticulated whey protein can be used as a fat substitute in foods to enhance their nutritional value and improve their sensory and rheological characteristics. Microparticulation denatures whey proteins through heat treatment, followed by shear rate control to determine the aggregate sizes formed. The processing method used during microparticulation can modify the protein denaturation rate, which may enable the application of new proteins. This study sought to develop a methodology for quantifying whey protein fractions in commercial samples before and after microparticulation at different concentrations and physical states. The developed methodology proved to be applicable because of its selectivity, quantification, detection limits, and precision. The analyzed samples exhibited a higher denaturation rate for β-lactoglobulin than α-lactoalbumin; the denaturation rate varied among samples due to differences in the microparticulation process. characteristics treatment formed states selectivity quantification limits precision βlactoglobulin β lactoglobulin αlactoalbumin α lactoalbumin α-lactoalbumin process
2.
Chemical Composition and Larvicidal Activity of Essential Oil Extracted from Anemia tomentosa (SAV.) Sw: Study Conducted in vitro and in silico SAV. SAV (SAV. Sw (SAV
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Jesus, Vilisaimon S. de
; Leite, Juliana L.
; Sousa, Jailan S.
; Barbosa, Fabricio S.
; Oliveira, Djalma M. de
; Barreto, Rubens S.
; Soares, Wagner R. A.
; Andrade, Bruno S.
; Gualberto, Simone A.
; Silva, Débora C. da
; Guimarães, Isabelly D. S.
; Silva, Luiza F.
; Aguiar, Rosane M.
.
The essential oil extracted from Anemia tomentosa (EOAT) has shown larvicidal potential against Aedes aegypti, based on methods in vitro and in silico. Chromatographic and spectrometric techniques (gas chromatography-mass spectrometry (CG-MS), gas chromatography-flame ionization detector (GC-FID)), as well as mono and bidimensional nuclear magnetic resonance spectroscopy (NMR) were used to assess 10 essential oil components. Chemical composition of essential oil comprised 87.51% sesquiterpenes, with emphasis on presilphiperfolan-1-ol (42.13%) and silphiperfol-5-ene (19.47%). Larvicidal assay conducted in vitro with EOAT has evidenced potential cytotoxic activity up to 48 h exposure to it; mortality rate observed for A. aegypti larvae exposed to essential oil reached 100%. Study conducted in silico with chemical compounds deriving from the herein investigated plant species has evidenced its potential to inhibit acetylcholinesterase in A. aegypti. Activity of triquinane sesquiterpenes ranging from -6.8 to -8.2 kcal mol-1 stood out in comparison to that of temephos (-7.5 kcal mol-1). Chemical compounds identified in the investigated essential oil presented low human and environmental toxicity, as observed in absorption, distribution, metabolism and excretion, and toxicity (ADMETox) predictions. (EOAT chromatographymass chromatography mass CGMS, CGMS CG MS , (CG-MS) chromatographyflame flame GCFID, GCFID GC FID (GC-FID)) NMR (NMR 1 components 8751 87 51 87.51 presilphiperfolan1ol presilphiperfolanol presilphiperfolan ol 42.13% 4213 42 13 (42.13% silphiperfol5ene silphiperfolene silphiperfol 5 ene 19.47%. 1947 19.47% . 19 47 (19.47%) 4 it A 100 100% 6.8 68 6 8 -6. 8.2 82 2 -8. mol1 mol mol- 7.5 75 7 (-7. mol1. mol-1) absorption distribution excretion ADMETox (ADMETox predictions (CG-MS (GC-FID) 875 87.5 42.13 421 (42.13 194 19.47 (19.47% 6. -6 8. -8 7. (-7 (GC-FID 87. 42.1 (42.1 19.4 (19.47 - (- 42. (42. 19. (19.4 ( (42 (19. (4 (19 (1
3.
Anatomical and carcass traits, partition of fat deposits, and meat quality in culled adult goats finished with high-fat diet
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Oliveira, Felipe B. B.
; Fernandes, César C. L.
; Alves, Juliana P. M.
; Marques, Iolly T. O.
; Silva, Caroline P.
; Lima, Francisco W. R.
; Carneiro, Hilton A. V.
; Filho, Nauara M. Lage
; Rêgo, Aníbal C.
; Rondina, Davide
.
Abstract The objective of this study was to examine the impact of a high-fat finishing diet on the in vivo performance, anatomical and carcass characteristics, and meat quality of adult culled goats. Over a period of 28 days leading up to slaughter, eighteen adult culled goats were subjected to a finishing diet provided in quantities sufficient to meet 3.0 times the nutritional requirements of adult non-dairy maintenance goats. The female goats were divided into two groups: one fed with the baseline diet without fat supplementation (n = 9) and the other fed a diet concentrated supplemented with whole full-fat linseed (n = 9). The diets varied in fat content (2.8% vs. 8.4% DM). The high-fat group exhibited a higher dry matter intake compared to the control group (+37%), along with elevated plasma cholesterol and triglyceride levels. The control group experienced a significant decrease in daily weight gain between the second and final week of the finishing period (-70%), in contrast to the increase observed in the high-fat group (+59%). At slaughter, no differences were noted between the groups in anatomical and carcass characteristics. Additionally, no differences were found between the diets regarding proximate composition, pH, yellow color component, and lightness of loin. The high-fat group exhibited a higher redness of loin. The inclusion of high-fat levels in finishing diets for culled adult goats allows for increased feed intake and performance but does not appear to affect carcass or meat quality.
4.
Hamamelis virginiana L. extract presents antimicrobial and antibiofilm effects, absence of cytotoxicity, anti-inflammatory action, and potential to fight infections through the nitric oxide production by macrophages L effects cytotoxicity antiinflammatory anti inflammatory action
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AMÊNDOLA, ISABELA
; VIEGAS, DAIANE DE J.
; FREITAS, EDUARDO T.
; OLIVEIRA, JONATAS R. DE
; SANTOS, JULIANA G. DOS
; OLIVEIRA, FELIPE E. DE
; LAGAREIRO NETTO, AMANDIO A.
; MARCUCCI, MARIA C.
; OLIVEIRA, LUCIANE D. DE
; BACK-BRITO, GRAZIELLA N.
.
Abstract The potential of H. virginiana L. was evaluated against Candida spp. (C. albicans, C. dubliniensis, C. glabrata, C. guilliermondii, C. krusei, and C. tropicalis) and bacteria (Acinetobacter baumannii, Escherichia coli, Enterococcus faecalis, Klebsiella pneumoniae, Staphylococcus aureus, and Streptococcus mutans). Effect on murine macrophages (RAW 264.7) was also evaluated with respect to cytotoxicity and production of cytokines (IL-1β and TNF-α) and nitric oxide (NO). The most effective concentrations of the extract were determined by microdilution broth. These concentrations were analyzed on biofilms, after 5 min or 24 h exposure. Cytotoxicity was performed by MTT assay and quantification of cytokines and NO by ELISA and Griess reagent, respectively. The extract acted against the planktonic forms and provided significant reductions of all the microbial biofilms; besides, showed no cytotoxic effect, except at 100 mg/mL, after 24 h exposure. There was cytokine production; however, a modulatory effect was observed in groups exposed to lipopolysaccharide (LPS) from E. coli. NO production was similar or higher than the control group. Thus, H. virginiana L. extract showed antimicrobial and antibiofilm effects; absence of cytotoxicity for RAW 264.7; anti-inflammatory action; and potential to fight infections through the NO production. H L spp C (C albicans dubliniensis glabrata guilliermondii krusei tropicalis Acinetobacter baumannii coli faecalis pneumoniae aureus mutans. mutans . mutans) 264.7 2647 264 7 IL1β ILβ IL 1β β TNFα TNF α TNF-α NO. (NO) broth biofilms 2 exposure reagent respectively besides 10 mgmL mg mL mg/mL however LPS (LPS E group Thus effects antiinflammatory anti inflammatory action 264. 26 (NO 1
5.
The high biodiversity of benthic organisms in a coastal ecosystem revealed by an integrative approach
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Amaral, A. Cecília Z.
; Cunha, Beatriz P.
; Checon, Helio H.
; Godoy, Angélica S. de
; Silva, Camila F. da
; Corte, Guilherme N.
; Nogueira, João M. de M.
; Fukuda, Marcelo V.
; Steiner, Tatiana M.
; Kawauchi, Gisele Y.
; Turra, Alexander
; Denadai, Márcia R.
; Ferreira, Luciane
; Mendonça, Joel B. de
; Tavares, Marcos
; Leite, Fosca P. P.
; Costa, Mariana F. B.
; Siqueira, Silvana G. L.
; Vieira, Leandro M.
; Dias, Gustavo M.
; Teixeira, Joyce A.
; Rocha, Rosana M.
; Gusmão, Luciana C.
; Borges, Michela
; Alitto, Renata
; Machado, Fabrizio M.
; Passos, Flávio D.
; Cunha, Carlo M.
; Simone, Luiz R.L.
; Araujo, Ana Paula G.
; Carbayo, Fernando
; Bahia, Juliana
; Bulnes, Verónica N.
; Castello-Branco, Cristiana
; Hajdu, Eduardo
; Vilas-Boas, Ana Carolina
; Garraffoni, André R. S.
; Schockaert, Ernest
; Fonseca, Gustavo
; Domenico, Maikon Di
; Curini-Galletti, Marco
; Sørensen, Martin V.
; Hochberg, Rick
; Oliveira, Ana Julia F. C. de
; Zampieri, Bruna Del B.
; Chinelatto, Roberta M.
; Migotto, Alvaro E.
.
Resumo O aumento da modificação dos habitats e da perda de espécies demanda esforços consistentes para descrever e compreender os padrões de biodiversidade. O programa BIOTA/FAPESP foi criado nesse contexto e é uma iniciativa de sucesso para promover estudos em biodiversidade e conservação no Brasil. O BIOTA/Araçá é um projeto interdisciplinar que promoveu uma avaliação detalhada da biodiversidade da Baía do Araçá, um ecossistema costeiro localizado ao Norte do estado de São Paulo, Sudeste do Brasil. A baía engloba múltiplos habitats, tais como praias, manguezais, costões rochosos, e uma planície de maré, e também fornece importantes serviços ecossistêmicos. Infelizmente, a baía está sujeita à conflitos sócio-ambientais complexos que contrastam demandas econômicas, sociais e ambientais (i.e. a expansão das atividades do porto vizinho vs. a pesca artesanal de pequena escala e a proteção da biodiversidade). O presente estudo apresenta um levantamento das espécies bentônicas que ocorrem nos diferentes habitats da Baía do Araçá, incluindo dados obtidos durante o projeto BIOTA/Araçá e de investigações realizadas anteriormente na área. As espécies bentônicas desempenham um papel importante no ambiente marinho, e estudar a diversidade desses organismos que vivem associados ao fundo é indispensável para compreender o funcionamento do meio ambiente. A macrofauna, meiofauna, e microorganismos associados aos fundos consolidado e inconsolidado foram listados, e informações adicionais foram fornecidas para cada espécie, tais como a distribuição geográfica e nos habitats. O checklist inclui 826 espécies, quase 70% registradas durante o projeto BIOTA/Araçá. Os taxa mais especiosos foram os anelídeos (225 spp.), moluscos (194 spp.), e crustáceos (177 spp.). Entre as espécies bentônicas listadas, sete são endêmicas da Baía do Araçá, 14 são consideradas ameaçadas de extinção, e sete são exploradas economicamente. A baía é a localidade tipo de vários taxa, e 11 novas espécies bentônicas foram descritas com base em espécimes amostrados durante o projeto. Este projeto mostra a importância da Baía do Araçá como um ambiente de riqueza biológica única e demonstra a necessidade de esforços para a sua conservação considerando as atuais ameaças. BIOTAFAPESP BIOTA FAPESP Brasil BIOTAAraçá Paulo praias manguezais rochosos maré ecossistêmicos Infelizmente sócioambientais sócio econômicas i.e. ie i (i.e vs . biodiversidade) área marinho macrofauna meiofauna listados espécie 82 70 225 (22 spp., spp spp. , spp.) 194 (19 177 (17 spp.. listadas 1 extinção economicamente ameaças i.e 8 7 22 (2 19 (1 17 2 (
Abstract Increasing habitat modification and species loss demand consistent efforts to describe and understand biodiversity patterns. The BIOTA/FAPESP Program was created in this context and it has been a successful initiative to promote studies on biodiversity and conservation in Brazil. The BIOTA/Araçá is an interdisciplinary project that provided a detailed evaluation of the biodiversity of Araçá Bay, a coastal seascape located on the North coast of the state of São Paulo, Southeast Brazil. The bay encompasses multiple habitats, such as beaches, mangroves, rocky shores, and a tidal flat, and provides important ecosystem services. Unfortunately, the bay is the subject of complex social-environmental conflicts that oppose economic, social, and environmental demands (i.e., the expansion of neighboring harbor activities vs. small-scale artisanal fisheries and protection of biodiversity). The present study presents a survey of the benthic species occurring in the different habitats of Araçá Bay, including data obtained during the BIOTA/Araçá project and previous assessments of the area. The benthic species play an important role in marine environments and studying the diversity of these organisms that live associated with the bottom is indispensable for comprehending the environment’s functioning. The macrofauna, meiofauna, and microorganisms associated with soft and hard bottom were listed, and additional information, such as the habitat and geographical distribution, were provided for each species. The checklist includes 826 species, almost 70% recorded during the BIOTA/Araçá project. The most speciose taxa were the annelids (225 spp.), mollusks (194 spp.), and crustaceans (177 spp.). Seven benthic species are endemic to Araçá Bay, 14 are considered threatened, and seven are economically exploited. Furthermore, the bay is the type locality of many taxa, and 11 new benthic species were described based on specimens sampled during the project. This project shows the importance of Araçá Bay as a unique biologically rich environment and highlights the need for conservation efforts in light of the current threats. patterns BIOTAFAPESP BIOTA FAPESP Brazil BIOTAAraçá Paulo beaches mangroves shores flat services Unfortunately socialenvironmental social economic i.e., ie i e (i.e. vs smallscale small scale biodiversity. . biodiversity) area s functioning macrofauna meiofauna listed information distribution 82 70 225 (22 spp., spp spp. , spp.) 194 (19 177 (17 spp.. 1 threatened exploited Furthermore threats i.e. (i.e 8 7 22 (2 19 (1 17 i.e 2 (
6.
OPTIMIZATION AND VALIDATION OF LIQUID-LIQUID EXTRACTION (LLE) METHOD AND THE APPLICATION OF GAS CHROMATOGRAPHY WITH FID DETECTOR FOR THE DETERMINATION AND QUANTIFICATION OF VOLATILE FATTY ACIDS IN EFFLUENTS FROM ANAEROBIC REACTORS LIQUIDLIQUID LIQUID LLE (LLE
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Lourenço, Emilene C.
; Oliveira, Camila J.
; Somer, Juliana G.
; Marteres, Tiago J.
; Luiz, Franciele N.
; Boroski, Marcela
; Toci, Aline T.
.
Controlling the chemical parameters of the anaerobic digestion (AD) process is essential for the bioconversion of organic matter to methane; among these parameters include the presence and concentration of volatile fatty acids (VFAs). It is thus necessary to use efficient analytical methods that are capable of identifying and quantifying VFAs in reactor effluents in order to obtain an immediate response to their conditions. In this study, the liquid-liquid extraction (LLE) method was optimized and validated - through an adaptation of the official method, using acetone and KHSO4, and gas chromatography with flame ionization detector (GC-FID) was used for the determination of acetic, propionic, isobutyric, butyric, isovaleric and valeric acids present in the effluents. The limit of detection (LOD) and limit of quantification (LOQ) obtained were 1.2-2.5 mg L-1 and 1.9-3.7 mg L-1, respectively, for all analytes. These low LODs and LOQs are essentially important because the presence of isobutyric and isovaleric acids above 5.0 mg can be considered indicative of imbalances in AD. The proposed method, which presented satisfactory results with good repeatability (4.2-20.7%) and recovery (90.9-104.0%) rates, was applied for the analysis of effluent samples from three continuous stirred-tank reactors (CSTR). AD (AD methane VFAs. . (VFAs) conditions study liquidliquid liquid LLE (LLE KHSO4 KHSO GCFID GC FID (GC-FID acetic propionic butyric LOD (LOD LOQ (LOQ 1.22.5 1225 1.2 2.5 1 2 5 1.2-2. L1 L L- 1.93.7 1937 1.9 3.7 9 3 7 1.9-3. L1, 1, respectively analytes 50 0 5. 4.220.7% 42207 4.2 20.7% 4 20 (4.2-20.7% 90.9104.0% 9091040 90.9 104.0% 90 104 (90.9-104.0% rates stirredtank stirred tank CSTR. CSTR (CSTR) (VFAs 22 1.22. 122 12 1. 25 2. 1.2-2 93 1.93. 193 19 37 3. 1.9-3 220 4.220.7 4220 42 4. 207 20.7 (4.2-20.7 9104 90.9104.0 909104 909 90. 1040 104.0 10 (90.9-104.0 (CSTR 1.22 1.2- 1.93 1.9- 4.220. 422 20. (4.2-20. 910 90.9104. 90910 104. (90.9-104. 4.220 (4.2-20 91 90.9104 9091 (90.9-104 4.22 (4.2-2 90.910 (90.9-10 (4.2- 90.91 (90.9-1 (4.2 (90.9- (4. (90.9 (4 (90. ( (90 (9
7.
CLASSIFICATION OF THE OCCURRENCE OF BROADLEAF WEEDS IN NARROW-LEAF CROPS NARROWLEAF NARROW LEAF
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Martins, Cenneya L.
; Oliveira, Agda L. G.
; Cunha, Isabella A. da
; Oldoni, Henrique
; Pereira, Juliana C.
; Amaral, Lucas R. do
.
ABSTRACT Considering the spectral differences between broadleaf weeds and narrow-leaf crops and the influence of terrain and soil variables on weed infestations, integrating such information into a machine-learning algorithm can lead to accurate weed maps. Therefore, we aim to evaluate the effectiveness of these variables in classifying the occurrence of broadleaf weeds in narrow-leaf crops. Weed data was collected at georeferenced points across two areas covering 200 ha (pasture) and 106 ha (sorghum), creating classes 0 (absence) and 1 (presence). For each sample point, we obtained 11 variables: soil clay content, cation exchange capacity, soil organic matter, terrain elevation, slope, NDVI, EVI, CIgreen, BGND (derived from PlanetScope images), and spatial information (X and Y coordinates). These variables were used as predictors of broadleaf weed presence and absence in the Random Forest classification algorithm. The presence and absence of broadleaf weeds were correctly classified in 84% and 74% of all predictions in the test sample sets for pasture and sorghum areas, respectively. This strategy represents an efficient way to map and manage the occurrence of broadleaf weeds in narrow-leaf crops. narrowleaf narrow leaf infestations machinelearning machine learning maps Therefore 20 (pasture 10 sorghum, , (sorghum) (absence presence. . (presence) point content capacity matter elevation slope NDVI EVI CIgreen derived images, images images) X coordinates. coordinates coordinates) 84 74 respectively 2 (sorghum (presence 8 7
8.
Effect of Photoluminescence of Nanomaterials to Verify Corrosion in Carbon Steel
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Leitão, Juliana S. Osterno
; Lima, Francisco M.
; Girão, Daniel de C.
; Fechine, Lillian M. U. D.
; Carneiro, Samuel V.
; Oliveira, Ralph S.
; Freire, Francisco N. A
; Amorim, A. F. Valentim de
; Fechine, Pierre B. A.
; Araújo, Walney Silva
; Rocha, Janaína S.
.
The use of fluorescent nanomaterials in various fields of study has become increasingly common. In this work, the use of carbon quantum dots as a corrosion marker in carbon steel is proposed. To produce the sensor, carbon quantum dots based on ethylenediamine and citric acid were used, dissolved in a polymeric matrix. The quantum dot used showed a quantum yield of 42.34%. The nanomodified coatings emitted blue light under ultraviolet radiation lamp. However, it was observed that there is a loss of photoluminescence in the coating on the carbon steel substrate compared to the coating on the polymeric substrate, which maintained photoluminescence activity after natural exposure. Thus, it is inferred that the loss of photoluminescence may be associated with the corrosion process. common work proposed sensor matrix 4234 42 34 42.34% lamp However exposure Thus process 423 4 3 42.34 42.3 42.
9.
Organic residues and Parachlorella microalgae favor the growth and gas exchange of cedar
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Santos, Cleberton Correia
; Oliveira, Mauricio Lacerda de
; Ribeiro, Dágon Manoel
; Scalon, Silvana de Paula Quintão
; Linné, Jéssica Aline
; Silverio, Juliana Milene
; Figueiredo, Vanda Maria de Aquino
; Silva, Otávio Henrique Medina da
.
ABSTRACT Using organic residues and bioinputs is a promising and sustainable practice to produce seedlings with forest essences, such as Cedrela fissilis Vell. (cedar), a vulnerable species close to extinction due to intensive exploitation in native areas. Thus, we aimed to evaluate the effect of different substrates based on organic residues associated with or without the application of Parachlorella sp. microalgae in the emergence and morphophysiology of C. fissilis seedlings. Sowing was carried out on six substrates: Oxisol with a clayey texture; Oxisol + Parachlorella sp.; Oxisol with sheep manure (3:1, v v–1); Oxisol with sheep manure + Parachlorella sp.; Oxisol with cattle manure (3:1, v v–1); and Oxisol with cattle manure + Parachlorella sp. The addition of organic residues to the soil, especially cattle manure, contributes to increasing the percentage of emergence, plant height, chlorophyll index, CO2 assimilation rate, and instantaneous carboxylation efficiency of Rubisco due to the superior chemical attributes in the substrate, which promote greater physiological efficiency. Organic residues increased the water use efficiency of seedlings. The application of Parachlorella sp. microalgae contributes to increases in the CO2 assimilation rate and stomatal conductance when seedlings are grown only in Oxisol. C. fissilis seedlings produced in the substrate with sheep and cattle manure showed better growth and gas exchange characteristics. essences Vell cedar, cedar , (cedar) areas Thus sp C texture 31, 31 3 1, 1 (3:1 v–1 v1 v–1) soil height index CO characteristics (cedar (3: v– (3 (
10.
DESORPTION ISOTHERMS OF GRAIN SORGHUM (Sorghum bicolor [L.] Moench) FLOUR Sorghum L. L [L. Moench [L
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Célia, Juliana A.
; Resende, Osvaldo
; Monteiro, Amandha R.
; Costa Neto, Francisco V.
; Oliveira, Daniel E. C. de
.
ABSTRACT This study aimed to obtain the sorption isotherms of grain sorghum flour, fit mathematical models to experimental data, and recommend safe water levels for preserving the material at different temperatures. Sorghum grains with an initial moisture content of 34% dry basis (db) were subjected to drying at a temperature of 60 °C, reaching moisture contents ranging from 32.20 to 9.8% db. Water activity was obtained using Hygropalm Aw1 equipment placed inside a BOD chamber at temperatures of 10, 20, 30, and 40 °C. The experimental data were fitted to mathematical models frequently used to predict the isotherms of plant products. The modified Oswin model presented the best fit to estimate the sorption isotherms of sorghum flour. Safe moisture content limits for storing sorghum flour are 18.45, 17.3, 16.08, and 15.2% db for temperatures of 10, 20, 30, and 40 °C, respectively. The isosteric heat for the range of equilibrium moisture contents from 9.80 to 32.20% db varied from 2779.49 to 2498.46 kJ kg−1. 34 (db 6 C °C 3220 32 20 32.2 98 9 8 9.8 Aw 10 30 4 products 1845 18 45 18.45 173 17 3 17.3 1608 16 08 16.08 152 15 2 15.2 respectively 980 80 277949 2779 49 2779.4 249846 2498 46 2498.4 kg1 kg 1 kg−1 322 32. 9. 184 18.4 17. 160 0 16.0 15. 27794 277 2779. 24984 249 2498. kg− 18. 16. 27 24
11.
Catálogo Taxonômico da Fauna do Brasil: Setting the baseline knowledge on the animal diversity in Brazil Brasil
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Boeger, Walter A.
; Valim, Michel P.
; Zaher, Hussam
; Rafael, José A.
; Forzza, Rafaela C.
; Percequillo, Alexandre R.
; Serejo, Cristiana S.
; Garraffoni, André R.S.
; Santos, Adalberto J.
; Slipinski, Adam
; Linzmeier, Adelita M.
; Calor, Adolfo R.
; Garda, Adrian A.
; Kury, Adriano B.
; Fernandes, Agatha C.S.
; Agudo-Padrón, Aisur I.
; Akama, Alberto
; Silva Neto, Alberto M. da
; Burbano, Alejandro L.
; Menezes, Aleksandra
; Pereira-Colavite, Alessandre
; Anichtchenko, Alexander
; Lees, Alexander C.
; Bezerra, Alexandra M.R.
; Domahovski, Alexandre C.
; Pimenta, Alexandre D.
; Aleixo, Alexandre L.P.
; Marceniuk, Alexandre P.
; Paula, Alexandre S. de
; Somavilla, Alexandre
; Specht, Alexandre
; Camargo, Alexssandro
; Newton, Alfred F.
; Silva, Aline A.S. da
; Santos, Aline B. dos
; Tassi, Aline D.
; Aragão, Allan C.
; Santos, Allan P.M.
; Migotto, Alvaro E.
; Mendes, Amanda C.
; Cunha, Amanda
; Chagas Júnior, Amazonas
; Sousa, Ana A.T. de
; Pavan, Ana C.
; Almeida, Ana C.S.
; Peronti, Ana L.B.G.
; Henriques-Oliveira, Ana L.
; Prudente, Ana L.
; Tourinho, Ana L.
; Pes, Ana M.O.
; Carmignotto, Ana P.
; Wengrat, Ana P.G. da Silva
; Dornellas, Ana P.S.
; Molin, Anamaria Dal
; Puker, Anderson
; Morandini, André C.
; Ferreira, André da S.
; Martins, André L.
; Esteves, André M.
; Fernandes, André S.
; Roza, André S.
; Köhler, Andreas
; Paladini, Andressa
; Andrade, Andrey J. de
; Pinto, Ângelo P.
; Salles, Anna C. de A.
; Gondim, Anne I.
; Amaral, Antonia C.Z.
; Rondón, Antonio A.A.
; Brescovit, Antonio
; Lofego, Antônio C.
; Marques, Antonio C.
; Macedo, Antonio
; Andriolo, Artur
; Henriques, Augusto L.
; Ferreira Júnior, Augusto L.
; Lima, Aurino F. de
; Barros, Ávyla R. de A.
; Brito, Ayrton do R.
; Romera, Bárbara L.V.
; Vasconcelos, Beatriz M.C. de
; Frable, Benjamin W.
; Santos, Bernardo F.
; Ferraz, Bernardo R.
; Rosa, Brunno B.
; Sampaio, Brunno H.L.
; Bellini, Bruno C.
; Clarkson, Bruno
; Oliveira, Bruno G. de
; Corrêa, Caio C.D.
; Martins, Caleb C.
; Castro-Guedes, Camila F. de
; Souto, Camilla
; Bicho, Carla de L.
; Cunha, Carlo M.
; Barboza, Carlos A. de M.
; Lucena, Carlos A.S. de
; Barreto, Carlos
; Santana, Carlos D.C.M. de
; Agne, Carlos E.Q.
; Mielke, Carlos G.C.
; Caetano, Carlos H.S.
; Flechtmann, Carlos H.W.
; Lamas, Carlos J.E.
; Rocha, Carlos
; Mascarenhas, Carolina S.
; Margaría, Cecilia B.
; Waichert, Cecilia
; Digiani, Celina
; Haddad, Célio F.B.
; Azevedo, Celso O.
; Benetti, Cesar J.
; Santos, Charles M.D. dos
; Bartlett, Charles R.
; Bonvicino, Cibele
; Ribeiro-Costa, Cibele S.
; Santos, Cinthya S.G.
; Justino, Cíntia E.L.
; Canedo, Clarissa
; Bonecker, Claudia C.
; Santos, Cláudia P.
; Carvalho, Claudio J.B. de
; Gonçalves, Clayton C.
; Galvão, Cleber
; Costa, Cleide
; Oliveira, Cléo D.C. de
; Schwertner, Cristiano F.
; Andrade, Cristiano L.
; Pereira, Cristiano M.
; Sampaio, Cristiano
; Dias, Cristina de O.
; Lucena, Daercio A. de A.
; Manfio, Daiara
; Amorim, Dalton de S.
; Queiroz, Dalva L. de
; Queiroz, Dalva L. de
; Colpani, Daniara
; Abbate, Daniel
; Aquino, Daniel A.
; Burckhardt, Daniel
; Cavallari, Daniel C.
; Prado, Daniel de C. Schelesky
; Praciano, Daniel L.
; Basílio, Daniel S.
; Bená, Daniela de C.
; Toledo, Daniela G.P. de
; Takiya, Daniela M.
; Fernandes, Daniell R.R.
; Ament, Danilo C.
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; Silva, Darliane E.
; Pollock, Darren A.
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; Gibson, David I.
; Nogueira, David S.
; Marques, Dayse W.A.
; Lucatelli, Débora
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; Ferreira, Denise N.M.
; Rueda-Ramírez, Diana
; Fachin, Diego A.
; Souza, Diego de S.
; Rodrigues, Diego F.
; Pádua, Diego G. de
; Barbosa, Diego N.
; Dolibaina, Diego R.
; Amaral, Diogo C.
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; Maccagnan, Douglas H.B.
; Caron, Edilson
; Carvalho, Edrielly
; Adriano, Edson A.
; Abreu Júnior, Edson F. de
; Pereira, Edson H.L.
; Viegas, Eduarda F.G.
; Carneiro, Eduardo
; Colley, Eduardo
; Eizirik, Eduardo
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; Shimbori, Eduardo M.
; Suárez-Morales, Eduardo
; Arruda, Eliane P. de
; Chiquito, Elisandra A.
; Lima, Élison F.B.
; Castro, Elizeu B. de
; Orlandin, Elton
; Nascimento, Elynton A. do
; Razzolini, Emanuel
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; Araujo, Enilma M. de
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; Santos, Érika C.L. dos
; Contreras, Eugenia F.
; Galati, Eunice A.B.
; Oliveira Junior, Evaldo C. de
; Gallardo, Fabiana
; Hernandes, Fabio A.
; Lansac-Tôha, Fábio A.
; Pitombo, Fabio B.
; Dario, Fabio Di
; Santos, Fábio L. dos
; Mauro, Fabio
; Nascimento, Fabio O. do
; Olmos, Fabio
; Amaral, Fabio R.
; Schunck, Fabio
; Godoi, Fábio S. P. de
; Machado, Fabrizio M.
; Barbo, Fausto E.
; Agrain, Federico A.
; Ribeiro, Felipe B.
; Moreira, Felipe F.F.
; Barbosa, Felipe F.
; Silva, Fenanda S.
; Cavalcanti, Fernanda F.
; Straube, Fernando C.
; Carbayo, Fernando
; Carvalho Filho, Fernando
; Zanella, Fernando C.V.
; Jacinavicius, Fernando de C.
; Farache, Fernando H.A.
; Leivas, Fernando
; Dias, Fernando M.S.
; Mantellato, Fernando
; Vaz-de-Mello, Fernando Z.
; Gudin, Filipe M.
; Albuquerque, Flávio
; Molina, Flavio B.
; Passos, Flávio D.
; Shockley, Floyd W.
; Pinheiro, Francielly F.
; Mello, Francisco de A.G. de
; Nascimento, Francisco E. de L.
; Franco, Francisco L.
; Oliveira, Francisco L. de
; Melo, Francisco T. de V.
; Quijano, Freddy R.B.
; Salles, Frederico F.
; Biffi, Gabriel
; Queiroz, Gabriel C.
; Bizarro, Gabriel L.
; Hrycyna, Gabriela
; Leviski, Gabriela
; Powell, Gareth S.
; Santos, Geane B. dos
; Morse, Geoffrey E.
; Brown, George
; Mattox, George M.T.
; Zimbrão, Geraldo
; Carvalho, Gervásio S.
; Miranda, Gil F.G.
; Moraes, Gilberto J. de
; Lourido, Gilcélia M.
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; Montingelli, Giovanna G.
; Maurício, Giovanni N.
; Marconato, Gláucia
; Lopez, Guilherme E.L.
; Silva, Guilherme L. da
; Muricy, Guilherme
; Brito, Guilherme R.R.
; Garbino, Guilherme S.T.
; Flores, Gustavo E.
; Graciolli, Gustavo
; Libardi, Gustavo S.
; Proctor, Heather C.
; Gil-Santana, Helcio R.
; Varella, Henrique R.
; Escalona, Hermes E.
; Schmitz, Hermes J.
; Rodrigues, Higor D.D.
; Galvão Filho, Hilton de C.
; Quintino, Hingrid Y.S.
; Pinto, Hudson A.
; Rainho, Hugo L.
; Miyahira, Igor C.
; Gonçalves, Igor de S.
; Martins, Inês X.
; Cardoso, Irene A.
; Oliveira, Ismael B. de
; Franz, Ismael
; Fernandes, Itanna O.
; Golfetti, Ivan F.
; S. Campos-Filho, Ivanklin
; Oliveira, Ivo de S.
; Delabie, Jacques H.C.
; Oliveira, Jader de
; Prando, Jadila S.
; Patton, James L.
; Bitencourt, Jamille de A.
; Silva, Janaina M.
; Santos, Jandir C.
; Arruda, Janine O.
; Valderrama, Jefferson S.
; Dalapicolla, Jeronymo
; Oliveira, Jéssica P.
; Hájek, Jiri
; Morselli, João P.
; Narita, João P.
; Martin, João P.I.
; Grazia, Jocélia
; McHugh, Joe
; Cherem, Jorge J.
; Farias Júnior, José A.S.
; Fernandes, Jose A.M.
; Pacheco, José F.
; Birindelli, José L.O.
; Rezende, José M.
; Avendaño, Jose M.
; Duarte, José M. Barbanti
; Ribeiro, José R. Inácio
; Mermudes, José R.M.
; Pujol-Luz, José R.
; Santos, Josenilson R. dos
; Câmara, Josenir T.
; Teixeira, Joyce A.
; Prado, Joyce R. do
; Botero, Juan P.
; Almeida, Julia C.
; Kohler, Julia
; Gonçalves, Julia P.
; Beneti, Julia S.
; Donahue, Julian P.
; Alvim, Juliana
; Almeida, Juliana C.
; Segadilha, Juliana L.
; Wingert, Juliana M.
; Barbosa, Julianna F.
; Ferrer, Juliano
; Santos, Juliano F. dos
; Kuabara, Kamila M.D.
; Nascimento, Karine B.
; Schoeninger, Karine
; Campião, Karla M.
; Soares, Karla
; Zilch, Kássia
; Barão, Kim R.
; Teixeira, Larissa
; Sousa, Laura D. do N.M. de
; Dumas, Leandro L.
; Vieira, Leandro M.
; Azevedo, Leonardo H.G.
; Carvalho, Leonardo S.
; Souza, Leonardo S. de
; Rocha, Leonardo S.G.
; Bernardi, Leopoldo F.O.
; Vieira, Letícia M.
; Johann, Liana
; Salvatierra, Lidianne
; Oliveira, Livia de M.
; Loureiro, Lourdes M.A. El-moor
; Barreto, Luana B.
; Barros, Luana M.
; Lecci, Lucas
; Camargos, Lucas M. de
; Lima, Lucas R.C.
; Almeida, Lucia M.
; Martins, Luciana R.
; Marinoni, Luciane
; Moura, Luciano de A.
; Lima, Luciano
; Naka, Luciano N.
; Miranda, Lucília S.
; Salik, Lucy M.
; Bezerra, Luis E.A.
; Silveira, Luis F.
; Campos, Luiz A.
; Castro, Luiz A.S. de
; Pinho, Luiz C.
; Silveira, Luiz F.L.
; Iniesta, Luiz F.M.
; Tencatt, Luiz F.C.
; Simone, Luiz R.L.
; Malabarba, Luiz R.
; Cruz, Luiza S. da
; Sekerka, Lukas
; Barros, Lurdiana D.
; Santos, Luziany Q.
; Skoracki, Maciej
; Correia, Maira A.
; Uchoa, Manoel A.
; Andrade, Manuella F.G.
; Hermes, Marcel G.
; Miranda, Marcel S.
; Araújo, Marcel S. de
; Monné, Marcela L.
; Labruna, Marcelo B.
; Santis, Marcelo D. de
; Duarte, Marcelo
; Knoff, Marcelo
; Nogueira, Marcelo
; Britto, Marcelo R. de
; Melo, Marcelo R.S. de
; Carvalho, Marcelo R. de
; Tavares, Marcelo T.
; Kitahara, Marcelo V.
; Justo, Marcia C.N.
; Botelho, Marcia J.C.
; Couri, Márcia S.
; Borges-Martins, Márcio
; Felix, Márcio
; Oliveira, Marcio L. de
; Bologna, Marco A.
; Gottschalk, Marco S.
; Tavares, Marcos D.S.
; Lhano, Marcos G.
; Bevilaqua, Marcus
; Santos, Marcus T.T.
; Domingues, Marcus V.
; Sallum, Maria A.M.
; Digiani, María C.
; Santarém, Maria C.A.
; Nascimento, Maria C. do
; Becerril, María de los A.M.
; Santos, Maria E.A. dos
; Passos, Maria I. da S. dos
; Felippe-Bauer, Maria L.
; Cherman, Mariana A.
; Terossi, Mariana
; Bartz, Marie L.C.
; Barbosa, Marina F. de C.
; Loeb, Marina V.
; Cohn-Haft, Mario
; Cupello, Mario
; Martins, Marlúcia B.
; Christofersen, Martin L.
; Bento, Matheus
; Rocha, Matheus dos S.
; Martins, Maurício L.
; Segura, Melissa O.
; Cardenas, Melissa Q.
; Duarte, Mércia E.
; Ivie, Michael A.
; Mincarone, Michael M.
; Borges, Michela
; Monné, Miguel A.
; Casagrande, Mirna M.
; Fernandez, Monica A.
; Piovesan, Mônica
; Menezes, Naércio A.
; Benaim, Natalia P.
; Reategui, Natália S.
; Pedro, Natan C.
; Pecly, Nathalia H.
; Ferreira Júnior, Nelson
; Silva Júnior, Nelson J. da
; Perioto, Nelson W.
; Hamada, Neusa
; Degallier, Nicolas
; Chao, Ning L.
; Ferla, Noeli J.
; Mielke, Olaf H.H.
; Evangelista, Olivia
; Shibatta, Oscar A.
; Oliveira, Otto M.P.
; Albornoz, Pablo C.L.
; Dellapé, Pablo M.
; Gonçalves, Pablo R.
; Shimabukuro, Paloma H.F.
; Grossi, Paschoal
; Rodrigues, Patrícia E. da S.
; Lima, Patricia O.V.
; Velazco, Paul
; Santos, Paula B. dos
; Araújo, Paula B.
; Silva, Paula K.R.
; Riccardi, Paula R.
; Garcia, Paulo C. de A.
; Passos, Paulo G.H.
; Corgosinho, Paulo H.C.
; Lucinda, Paulo
; Costa, Paulo M.S.
; Alves, Paulo P.
; Roth, Paulo R. de O.
; Coelho, Paulo R.S.
; Duarte, Paulo R.M.
; Carvalho, Pedro F. de
; Gnaspini, Pedro
; Souza-Dias, Pedro G.B.
; Linardi, Pedro M.
; Bartholomay, Pedro R.
; Demite, Peterson R.
; Bulirsch, Petr
; Boll, Piter K.
; Pereira, Rachel M.M.
; Silva, Rafael A.P.F.
; Moura, Rafael B. de
; Boldrini, Rafael
; Silva, Rafaela A. da
; Falaschi, Rafaela L.
; Cordeiro, Ralf T.S.
; Mello, Ramon J.C.L.
; Singer, Randal A.
; Querino, Ranyse B.
; Heleodoro, Raphael A.
; Castilho, Raphael de C.
; Constantino, Reginaldo
; Guedes, Reinaldo C.
; Carrenho, Renan
; Gomes, Renata S.
; Gregorin, Renato
; Machado, Renato J.P.
; Bérnils, Renato S.
; Capellari, Renato S.
; Silva, Ricardo B.
; Kawada, Ricardo
; Dias, Ricardo M.
; Siewert, Ricardo
; Brugnera, Ricaro
; Leschen, Richard A.B.
; Constantin, Robert
; Robbins, Robert
; Pinto, Roberta R.
; Reis, Roberto E. dos
; Ramos, Robson T. da C.
; Cavichioli, Rodney R.
; Barros, Rodolfo C. de
; Caires, Rodrigo A.
; Salvador, Rodrigo B.
; Marques, Rodrigo C.
; Araújo, Rodrigo C.
; Araujo, Rodrigo de O.
; Dios, Rodrigo de V.P.
; Johnsson, Rodrigo
; Feitosa, Rodrigo M.
; Hutchings, Roger W.
; Lara, Rogéria I.R.
; Rossi, Rogério V.
; Gerstmeier, Roland
; Ochoa, Ronald
; Hutchings, Rosa S.G.
; Ale-Rocha, Rosaly
; Rocha, Rosana M. da
; Tidon, Rosana
; Brito, Rosangela
; Pellens, Roseli
; Santos, Sabrina R. dos
; Santos, Sandra D. dos
; Paiva, Sandra V.
; Santos, Sandro
; Oliveira, Sarah S. de
; Costa, Sávio C.
; Gardner, Scott L.
; Leal, Sebastián A. Muñoz
; Aloquio, Sergio
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; Bueno, Sergio L. de S.
; Almeida, Sérgio M. de
; Stampar, Sérgio N.
; Andena, Sérgio R.
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; Rosa, Simone P.
; Ribeiro, Síria L.B.
; Letana, Sócrates D.
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; Andrade, Sonia C.S.
; Dávila, Stephane
; Vaz, Stéphanie
; Peck, Stewart B.
; Christo, Susete W.
; Cunha, Suzan B.Z.
; Gomes, Suzete R.
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; Marques, Taísa
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; Lima, Tarcilla C. de
; Sepulveda, Tatiana A.
; Maria, Tatiana F.
; Ruschel, Tatiana P.
; Rodrigues, Thaiana
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; Almeida, Thaís M. de
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.
ABSTRACT The limited temporal completeness and taxonomic accuracy of species lists, made available in a traditional manner in scientific publications, has always represented a problem. These lists are invariably limited to a few taxonomic groups and do not represent up-to-date knowledge of all species and classifications. In this context, the Brazilian megadiverse fauna is no exception, and the Catálogo Taxonômico da Fauna do Brasil (CTFB) (http://fauna.jbrj.gov.br/), made public in 2015, represents a database on biodiversity anchored on a list of valid and expertly recognized scientific names of animals in Brazil. The CTFB is updated in near real time by a team of more than 800 specialists. By January 1, 2024, the CTFB compiled 133,691 nominal species, with 125,138 that were considered valid. Most of the valid species were arthropods (82.3%, with more than 102,000 species) and chordates (7.69%, with over 11,000 species). These taxa were followed by a cluster composed of Mollusca (3,567 species), Platyhelminthes (2,292 species), Annelida (1,833 species), and Nematoda (1,447 species). All remaining groups had less than 1,000 species reported in Brazil, with Cnidaria (831 species), Porifera (628 species), Rotifera (606 species), and Bryozoa (520 species) representing those with more than 500 species. Analysis of the CTFB database can facilitate and direct efforts towards the discovery of new species in Brazil, but it is also fundamental in providing the best available list of valid nominal species to users, including those in science, health, conservation efforts, and any initiative involving animals. The importance of the CTFB is evidenced by the elevated number of citations in the scientific literature in diverse areas of biology, law, anthropology, education, forensic science, and veterinary science, among others. publications problem uptodate up date classifications context exception (CTFB http//fauna.jbrj.gov.br/, httpfaunajbrjgovbr http //fauna.jbrj.gov.br/ , jbrj gov br (http://fauna.jbrj.gov.br/) 2015 Brazil 80 specialists 1 2024 133691 133 691 133,69 125138 125 138 125,13 82.3%, 823 82 3 (82.3% 102000 102 000 102,00 7.69%, 769 7 69 (7.69% 11000 11 11,00 . 3,567 3567 567 (3,56 2,292 2292 2 292 (2,29 1,833 1833 833 (1,83 1,447 1447 447 (1,44 1000 1,00 831 (83 628 (62 606 (60 520 (52 50 users science health biology law anthropology education others http//fauna.jbrj.gov.br/ faunajbrjgovbr //fauna.jbrj.gov.br (http://fauna.jbrj.gov.br/ 201 8 202 13369 13 133,6 12513 12 125,1 82.3% (82.3 10200 10 00 102,0 7.69% 76 6 (7.69 1100 11,0 3,56 356 56 (3,5 2,29 229 29 (2,2 1,83 183 83 (1,8 1,44 144 44 (1,4 100 1,0 (8 62 (6 60 52 (5 5 http//fauna.jbrj.gov.br (http://fauna.jbrj.gov.br 20 1336 133, 1251 125, 82.3 (82. 1020 0 102, 7.69 (7.6 110 11, 3,5 35 (3, 2,2 22 (2, 1,8 18 (1, 1,4 14 4 ( 82. (82 7.6 (7. 3, (3 2, (2 (1 7. (7
12.
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease haystack CLN
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Lourenço, Charles Marques
; Sallum, Juliana Maria Ferraz
; Pereira, Alessandra Marques
; Girotto, Paula Natale
; Kok, Fernando
; Vilela, Daniel Reda Fenga
; Barron, Erika
; Pessoa, André
; de Oliveira, Bibiana Mello
.
Resumo Antecedentes As lipofuscinoses ceroides neuronais (neuronal ceroid lipofuscinoses, NCLs, em inglês) são um grupo de doenças autossômicas recessivas, hereditárias, lisossomais e neurodegenerativas que causam demência progressiva, crises epiléticas, distúrbios de movimento, atraso/regressão da linguagem, deficiência visual progressiva e morte precoce. A lipofuscinose ceroide neuronal tipo 2 (neuronal ceroid lipofuscinosis type 2, CLN2, em inglês), causada por variantes patogênicas bialélicas do gene TPP1, é a única com terapia-alvo aprovada. O diagnóstico laboratorial é realizado por testes específicos, o que leva a atrasos diagnósticos e, consequentemente, prejudica a disponibilização de tratamento. A epilepsia é uma característica comum e clinicamente identificável entre as NCLs, e o início das convulsões é o principal motivo para as famílias buscarem atendimento médico. Objetivo Avaliar os resultados do Programa de Epilepsia e Genética da América Latina, um painel genético, como uma ferramenta abrangente para a investigação de CLN2 entre outras causas genéticas de epilepsia. Métodos Um total de 1.284 pacientes com epilepsia sem uma causa específica e que tinham pelo menos 1 sintoma associado à CLN2 foram rastreados em busca de variantes em 160 genes associados à epilepsia ou a distúrbios metabólicos que apresentam epilepsia, por meio de um painel genético. Resultados Variantes do gene TPP1 foram identificadas em 25 indivíduos (1,9%), sendo que ; 21 apresentavam duas variantes. As duas variantes mais frequentes foram p.Arg208* e p.Asp276Val, e duas variantes novas foram detectadas neste: p.Leu308Pro e c.89 + 3G > C Intron 2. Conclusão Os resultados sugerem que os painéis genéticos de epilepsia podem ser uma ferramenta útil para confirmar ou excluir o diagnóstico de CLN2 e, se confirmado, fornecer tratamento específico para os pacientes. NCLs inglês recessivas hereditárias epiléticas movimento atrasoregressão atraso regressão linguagem precoce CLN inglês, , TPP terapiaalvo terapia alvo aprovada específicos consequentemente médico Latina genético 1284 284 1.28 16 1,9%, 19 1,9% 9 (1,9%) pArg208 pArg p Arg208 Arg p.Arg208 pAsp276Val pAspVal Asp276Val Asp Val p.Asp276Val neste pLeu308Pro pLeuPro Leu308Pro Leu Pro c89 c 89 c.8 G confirmado 128 28 1.2 1,9 (1,9% pArg20 Arg20 p.Arg20 pAsp AspVal pLeu LeuPro c8 8 c. 12 1. 1, (1,9 pArg2 Arg2 p.Arg2 (1, p.Arg (1 (
Abstract Background Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive, inherited, lysosomal, and neurodegenerative diseases that causes progressive dementia, seizures, movement disorders, language delay/regression, progressive visual failure, and early death. Neuronal ceroid lipofuscinosis type 2 (CLN2), caused by biallelic pathogenic variants of the TPP1 gene, is the only NCL with an approved targeted therapy. The laboratory diagnosis of CLN2 is established through highly specific tests, leading to diagnostic delays and eventually hampering the provision of specific treatment for patients with CLN2. Epilepsy is a common and clinically-identifiable feature among NCLs, and seizure onset is the main driver for families to seek medical care. Objective To evaluate the results of the Latin America Epilepsy and Genetics Program, an epilepsy gene panel, as a comprehensive tool for the investigation of CLN2 among other genetic causes of epilepsy. Methods A total of 1,284 patients with epilepsy without a specific cause who had at least 1 symptom associated with CLN2 were screened for variants in 160 genes associated with epilepsy or metabolic disorders presenting with epilepsy through an epilepsy gene panel. Results Variants of the TPP1 gene were identified in 25 individuals (1.9%), 21 of them with 2 variants. The 2 most frequently reported variants were p.Arg208* and p.Asp276Val, and 2 novel variants were detected in the present study: p.Leu308Pro and c.89 + 3G > C Intron 2. Conclusion The results suggest that these genetic panels can be very useful tools to confirm or exclude CLN2 diagnosis and, if confirmed, provide disease-specific treatment for the patients. (NCL recessive inherited lysosomal dementia seizures delayregression delay regression delay/regression failure death CLN2, CLN , (CLN2) TPP therapy tests clinicallyidentifiable clinically identifiable NCLs care Program panel 1284 284 1,28 16 1.9%, 19 1.9% 9 (1.9%) pArg208 pArg p Arg208 Arg p.Arg208 pAsp276Val pAspVal Asp276Val Asp Val p.Asp276Val study pLeu308Pro pLeuPro Leu308Pro Leu Pro c89 c 89 c.8 G confirmed diseasespecific disease (CLN2 128 28 1,2 1.9 (1.9% pArg20 Arg20 p.Arg20 pAsp AspVal pLeu LeuPro c8 8 c. (CLN 12 1, 1. (1.9 pArg2 Arg2 p.Arg2 (1. p.Arg (1 (
13.
Breaking dormancy in Cycas revoluta: A study of seed morphological characterization and dormancy mechanisms revoluta
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RESUMO: As sementes de Cycas revoluta apresentam dormência física e morfológica, o que representa desafios significativos para sua germinação. Este estudo investigou as características morfológicas e os mecanismos de dormência das sementes de C. revoluta e avaliou métodos para superar essas dormências. As sementes foram colhidas ao longo de dois anos consecutivos e submetidas a diferentes tratamentos. Foi realizada uma análise morfológica da estrutura das sementes, juntamente com testes físicos (tamanho, peso e grau de umidade das sementes) e fisiológicos (germinação, velocidade de germinação e tempo médio de germinação). A caracterização morfológica revelou que a espessa esclerotesta forma uma barreira impermeável, enquanto os embriões frequentemente estão subdesenvolvidos no momento da maturação das sementes. A germinação do primeiro ano demonstrou que a remoção da esclerotesta aumenta significativamente as taxas de germinação, com sementes descascadas alcançando 70% de germinação a 30 °C. No segundo ano, a imersão das sementes descascadas em ácido giberélico a 200 ppm por 24 horas promoveu ainda mais a germinação, embora seu efeito tenha sido modesto em comparação com a remoção da esclerotesta (semente descascada). Este estudo também demonstrou que o armazenamento das sementes por um ano permitiu que os embriões completassem seu desenvolvimento, aumentando ainda mais os resultados de germinação. Concluiu-se que a remoção da esclerotesta, combinada com condições ótimas de armazenamento, é uma estratégia eficaz para superar a dormência nas sementes de C. revoluta, e o tempo de imersão em ácido giberélico (200 ppm) ou em água por 24 horas também pode aumentar a taxa de germinação. RESUMO C dormências tratamentos tamanho, tamanho (tamanho (germinação . germinação) impermeável 70 3 °C 20 2 semente descascada. descascada descascada) desenvolvimento Concluiuse Concluiu se (20 7 (2 (
ABSTRACT: Cycas revoluta seeds exhibit both physical and morphological dormancy, posing significant challenges to their germination. This study investigated the morphological characteristics and dormancy mechanisms of C. revoluta seeds and evaluated methods to overcome these dormancies. Seeds were harvested over two consecutive years and subjected to different treatments. A morphological analysis of seed structure was conducted, along with assessments of physical (seed size, weight, and moisture content) and physiological tests (germination rate, germination speed, and mean time of germination).Morphological characterization revealed that the thick, woody sclerotesta forms an impermeable barrier, while the embryos within are often underdeveloped at the time of seed maturity. Germination of the first year demonstrated that removing the sclerotesta significantly enhances germination rates, with naked seeds achieving a 70% germination rate at 30 °C. In the second year, soaking naked seeds in gibberellic acid at 200 ppm for 24 hours further promoted germination, though its effect was modest compared to sclerotesta removal (naked seed). This study also demonstrated that storing seeds for a year allowed embryos to complete their development, further improving germination outcomes. These findings suggested that mechanical removal of the sclerotesta, combined with optimal storage conditions, is an effective strategy for overcoming dormancy in C. revoluta seeds and soak time in gibberellic acid (200 ppm) or water for 24 hours could enhance germination as well. ABSTRACT C dormancies treatments conducted size weight content speed germination.Morphological germinationMorphological .Morphological Morphological thick barrier maturity rates 70 3 °C 20 2 seed. . seed) development outcomes conditions (20 well 7 (2 (
14.
Description of the new HIV-1 intersubtype B/C circulating recombinant form (CRF146_BC) detected in Brazil HIV1 HIV 1 HIV- BC B C CRF146_BC CRF146BC CRFBC CRF146 CRF (CRF146_BC CRF14 CRF1
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Oliveira, Rodrigo Cunha
; Martin, Darren
; de Souza, Juliana Sacramento Mota
; Alcântara, Luiz Carlos Júnior
; Guimarães, Monick Lindenmeyer
; Brites, Carlos
; Monteiro-Cunha, Joana Paixão
.
BACKGROUND The human immunodeficiency virus 1 (HIV-1) infections in Brazil are predominantly caused by two subtypes, B and C. OBJECTIVES Here we present the characterisation of a novel HIV-1 recombinant form, indicating a new Brazilian CRF_BC, named CRF146_BC. METHODS RDP, JphMM and Simplot recombination tools were used to evaluate the mosaic pattern. FINDINGS In this work, we identified three HIV-1 nucleotide sequences previously classified as unique recombinant forms (URFs), plus one new partial genome sharing the same BC recombination pattern. The mosaic genome is almost entirely represented by the subtype C sequence, with a small subtype B recombination region in the pol gene, at the Integrase level. The phylogenetic analyses strongly indicate a common origin between the strains, which were isolated in Rio Grande do Sul, Rio de Janeiro and Bahia states. MAIN CONCLUSIONS Thus, the new HIV-1 CRF146_BC is circulating in three different Brazilian regions: South, Southeast and Northeast. HIV1 HIV (HIV-1 subtypes HIV- form CRFBC CRF CRF_BC CRF146BC CRF146 RDP pattern work URFs, URFs , (URFs) sequence gene level strains Sul states Thus regions South Northeast (HIV- CRF14 (URFs (HIV CRF1
15.
Sintomas Cardiopulmonares Pós-COVID-19: Preditores e Características de Imagem de Pacientes após a Alta Hospitalar PósCOVID19 PósCOVID Pós COVID 19 Pós-COVID-19 PósCOVID1 1 Pós-COVID-1 Pós-COVID- Pós-COVID
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Roberto, Kalil-Filho
; Saretta, Roberta
; Franci, André
; Baracioli, Luciano M.
; Galas, Filomena R. B. G.
; Gil, Juliana S.
; Ferino, Amanda
; Giacovone, Camilla
; Oliveira, Isabella
; Souza, Johnatan
; Batista, Vanessa
; Scalabrini Neto, Augusto
; Costa, Livia do Valle
; Ruiz, Amanda Danieleto
; Ledo, Carla B.
; Nascimento, Teresa Cristina D. C.
; Drager, Luciano F.
.
Resumo Fundamento A maioria da evidência sobre o impacto da síndrome COVID pós-aguda (PACS, do inglês, post-acute COVID-19 syndrome) descreve sintomas individuais sem correlacioná-los com exames de imagens. Objetivos Avaliar sintomas cardiopulmonares, seus preditores e imagens relacionadas em pacientes com COVID-19 após alta hospitalar. Métodos Pacientes consecutivos, que sobreviveram à COVID-19, foram contatados 90 dias após a alta hospitalar. A equipe de desfechos clínicos (cega quanto aos dados durante a internação) elaborou um questionário estruturado avaliando sintomas e estado clínico. Uma análise multivariada foi realizada abordando a evolução da COVID-19, comorbidades, ansiedade, depressão, e estresse pós-traumático durante a internação, e reabilitação cardíaca após a alta. O nível de significância usado nas análises foi de 5%. Resultados Foram incluídos 480 pacientes (idade 59±14 anos, 67,5% do sexo masculino) que receberam alta hospitalar por COVID-19; 22,3% necessitaram de ventilação mecânica. A prevalência de pacientes com sintomas cardiopulmonares relacionados à PACS (dispneia, cansaço/fadiga, tosse e desconforto no peito) foi de 16,3%. Vários parâmetros de tomografia computadorizada do tórax e de ecocardiograma foram similares entre os pacientes com e sem sintomas cardiopulmonares. A análise multivariada mostrou que sintomas cardiopulmonares foram relacionados de maneira independente com sexo feminino (OR 3,023; IC95% 1,319-6,929), trombose venosa profunda durante a internação (OR 13,689; IC95% 1,069-175,304), nível elevado de troponina (OR 1,355; IC95% 1,048-1,751) e de proteína C reativa durante a internação (OR 1,060; IC95% 1,023-1,097) e depressão (OR 6,110; IC95% 2,254-16,558). Conclusão Os sintomas cardiopulmonares relacionados à PACS 90 dias após a alta hospitalar são comuns e multifatoriais. Além dos marcadores trombóticos, inflamatórios e de lesão miocárdica durante a internação, sexo feminino e depressão foram associados independentemente com sintomas cardiopulmonares relacionados à PACS. Esses resultados destacaram a necessidade de uma abordagem multifacetada direcionada a pacientes susceptíveis. pósaguda pós aguda PACS, (PACS inglês postacute post acute COVID19 19 COVID-1 syndrome correlacionálos correlacioná los consecutivos COVID19, 19, 9 cega clínico comorbidades ansiedade póstraumático traumático 5 5% 48 idade 5914 59 14 59±1 anos 675 67 67,5 masculino 223 22 3 22,3 mecânica dispneia, dispneia (dispneia cansaçofadiga cansaço fadiga cansaço/fadiga peito 163 16 16,3% OR 3,023 3023 023 IC95 IC 1,3196,929, 13196929 1,319 6,929 , 1 319 6 929 1,319-6,929) 13,689 13689 13 689 1,069175,304, 1069175304 1,069 175,304 069 175 304 1,069-175,304) 1,355 1355 355 1,0481,751 10481751 1,048 1,751 048 751 1,048-1,751 1,060 1060 060 1,0231,097 10231097 1,023 1,097 097 1,023-1,097 6,110 6110 110 2,25416,558. 225416558 2,254 16,558 . 2 254 558 2,254-16,558) multifatoriais trombóticos susceptíveis COVID1 COVID- 4 591 59± 67, 22, 16,3 3,02 302 02 IC9 3196 1,3196,929 1319692 1319 1,31 6929 6,92 31 92 1,319-6,929 13,68 1368 68 069175 1,069175,304 106917530 1069 1,06 175304 175,30 06 17 30 1,069-175,304 1,35 135 35 0481 1,0481,75 1048175 1048 1,04 1751 1,75 04 75 1,048-1,75 106 0231 1,0231,09 1023109 1023 1,02 1097 1,09 09 1,023-1,09 6,11 611 11 25416 2,25416,558 22541655 2254 2,25 16558 16,55 25 55 2,254-16,558 16, 3,0 0 1,3196,92 131969 131 1,3 692 6,9 1,319-6,92 13,6 136 06917 1,069175,30 10691753 1,0 17530 175,3 1,069-175,30 1,0481,7 104817 104 1,7 7 1,048-1,7 10 1,0231,0 102310 102 109 1,023-1,0 6,1 61 2541 2,25416,55 2254165 225 2,2 1655 16,5 2,254-16,55 3, 1,3196,9 13196 1, 69 6, 1,319-6,9 13, 0691 1,069175,3 1069175 1753 175, 1,069-175,3 1,0481, 10481 1,048-1, 1,0231, 10231 1,023-1, 2,25416,5 225416 2, 165 2,254-16,5 1,3196, 1,319-6, 1,069175, 106917 1,069-175, 1,0481 1,048-1 1,0231 1,023-1 2,25416, 22541 2,254-16, 1,3196 1,319-6 1,069175 10691 1,069-175 1,048- 1,023- 2,25416 2,254-16 1,319- 1,06917 1,069-17 2,2541 2,254-1 1,0691 1,069-1 2,254- 1,069-
Abstract Background Most of the evidence about the impact of the post-acute COVID-19 Syndrome (PACS) reports individual symptoms without correlations with related imaging. Objectives To evaluate cardiopulmonary symptoms, their predictors and related images in COVID-19 patients discharged from hospital. Methods Consecutive patients who survived COVID-19 were contacted 90 days after discharge. The Clinic Outcome Team structured a questionnaire evaluating symptoms and clinical status (blinded for hospitalization data). A multivariate analysis was performed to address the course of COVID-19, comorbidities, anxiety, depression, and post-traumatic stress during hospitalization, and cardiac rehabilitation after discharge. The significance level was set at 5%. Results A total of 480 discharged patients with COVID-19 (age: 59±14 years, 67.5% males) were included; 22.3% required mechanical ventilation. The prevalence of patients with PACS-related cardiopulmonary symptoms (dyspnea, tiredness/fatigue, cough, and chest discomfort) was 16.3%. Several parameters of chest computed tomography and echocardiogram were similar in patients with and without cardiopulmonary symptoms. The multivariate analysis showed that PACS-related cardiopulmonary-symptoms were independently related to female sex (OR 3.023; 95% CI 1.319-6.929), in-hospital deep venous thrombosis (OR 13.689; 95% CI 1.069-175.304), elevated troponin I (OR 1.355; 95% CI 1.048-1.751) and C-reactive protein during hospitalization (OR 1.060; 95% CI 1.023-1.097) and depression (OR 6.110; 95% CI 2.254-16.558). Conclusion PACS-related cardiopulmonary symptoms 90 days post-discharge are common and multifactorial. Beyond thrombotic and markers of inflammation/myocardial injury during hospitalization, female sex and depression were independently associated with cardiopulmonary-related PACS. These results highlighted the need for a multifaceted approach targeting susceptible patients. postacute post acute COVID19 COVID 19 COVID-1 PACS (PACS imaging hospital 9 discharge blinded data. data . data) COVID19, 19, comorbidities anxiety posttraumatic traumatic 5 5% 48 age (age 5914 59 14 59±1 years 675 67 67.5 males included 223 22 3 22.3 ventilation PACSrelated dyspnea, dyspnea (dyspnea tirednessfatigue tiredness fatigue tiredness/fatigue cough discomfort 163 16 16.3% cardiopulmonarysymptoms OR 3.023 3023 023 95 1.3196.929, 13196929 1.319 6.929 , 1 319 6 929 1.319-6.929) inhospital 13.689 13689 13 689 1.069175.304, 1069175304 1.069 175.304 069 175 304 1.069-175.304) 1.355 1355 355 1.0481.751 10481751 1.048 1.751 048 751 1.048-1.751 Creactive C reactive 1.060 1060 060 1.0231.097 10231097 1.023 1.097 097 1.023-1.097 6.110 6110 110 2.25416.558. 225416558 2.254 16.558 2 254 558 2.254-16.558) postdischarge multifactorial inflammationmyocardial inflammation myocardial cardiopulmonaryrelated COVID1 COVID- 4 591 59± 67. 22. 16.3 3.02 302 02 3196 1.3196.929 1319692 1319 1.31 6929 6.92 31 92 1.319-6.929 13.68 1368 68 069175 1.069175.304 106917530 1069 1.06 175304 175.30 06 17 30 1.069-175.304 1.35 135 35 0481 1.0481.75 1048175 1048 1.04 1751 1.75 04 75 1.048-1.75 106 0231 1.0231.09 1023109 1023 1.02 1097 1.09 09 1.023-1.09 6.11 611 11 25416 2.25416.558 22541655 2254 2.25 16558 16.55 25 55 2.254-16.558 16. 3.0 0 1.3196.92 131969 131 1.3 692 6.9 1.319-6.92 13.6 136 06917 1.069175.30 10691753 1.0 17530 175.3 1.069-175.30 1.0481.7 104817 104 1.7 7 1.048-1.7 10 1.0231.0 102310 102 109 1.023-1.0 6.1 61 2541 2.25416.55 2254165 225 2.2 1655 16.5 2.254-16.55 3. 1.3196.9 13196 1. 69 6. 1.319-6.9 13. 0691 1.069175.3 1069175 1753 175. 1.069-175.3 1.0481. 10481 1.048-1. 1.0231. 10231 1.023-1. 2.25416.5 225416 2. 165 2.254-16.5 1.3196. 1.319-6. 1.069175. 106917 1.069-175. 1.0481 1.048-1 1.0231 1.023-1 2.25416. 22541 2.254-16. 1.3196 1.319-6 1.069175 10691 1.069-175 1.048- 1.023- 2.25416 2.254-16 1.319- 1.06917 1.069-17 2.2541 2.254-1 1.0691 1.069-1 2.254- 1.069-
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