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The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium. In this ongoing observational study, 4,260 families have been informed of the project, and 3,847 consented to participate. To date, 71 disease cases have been identified, 30 of which were not detected by conventional NBS. Glucose-6-phosphate dehydrogenase deficiency was the most frequent disorder detected, with 44 positive individuals. Of the remaining 27 cases, 17 were recessive disorders. We also identified one false-positive case in a newborn in whom two variants in the AGXTgene were identified, which were subsequently shown to be located on the maternal allele. Nine heterozygous variants were identified in genes associated with dominant conditions. Results from the BabyDetect project demonstrate the importance of integrating biochemical and genomic methods in NBS programs. Challenges must be addressed in variant interpretation within a presymptomatic population and in result reporting and diagnostic confirmation.

AbstractBackgroundIn noncardiac surgery, several biomarkers are known to play a role in predicting long-term complications, such as major adverse cardiovascular events (MACE), myocardial infarction, or death. Carotid endarterectomy (CEA) is considered a low to medium-risk surgery for carotid stenosis aimed at preventing stroke events. Brain natriuretic peptide (BNP) is a biomarker with potential prognostic value regarding MACE. Since its role in patients undergoing CEA is unknown, this study aims to assess the potential role of BNP as a short and long-term predictor of all-cause mortality and MACE in patients undergoing CEA.MethodsFrom a prospective database, patients who underwent CEA under regional anesthesia (RA) at a tertiary hospital center were enrolled, and a post hocanalysis was conducted. Patients on which BNP levels were measured up to fifteen days before surgery, and two groups based on the BNP threshold (200 pg/mL) were defined and compared. Kaplan Meier survival curves and adjusted hazard ratios (aHR) were assessed by multivariable Cox regression. The primary outcome was the incidence of long-term MACE and all-cause mortality. Secondary outcomes included the incidence of AMI and AHF.ResultsA total of 89 patients were evaluated. The mean age of the cohort was 71.2 ± 8.7 years, with 71 (79.8%) males, and presented a median follow-up of 30 [13.5–46.4] months. BNP > 200 pg/mL has demonstrated positive predictive value for MACE (aHR: 5.569, confidence interval (CI): 2.441–12.7, p < 0.001) and all-cause mortality (aHR: 3.469, CI: 1.315–9.150, p = 0.018).ConclusionBNP has been demonstrated to independently predict long-term all-cause mortality, MACE and AMI following CEA. It serves as a low-cost, ready-to-use biomarker, although further studies are necessary.

The exploitation of fruit residues is a tendency that has been raising considerable interest, since it reduces the amount of residues generated during agro-industrial processing, increases the profit generated in the operation and makes use of nutritional principals normally disposed of. Melon seeds are good sources of macronutrients such as proteins, lipids and carbohydrates, as well as micronutrients such as vitamins, minerals and bioactive compounds. The germination process leads to a modification in composition, possibly increasing the nutritional quality and altering the physicochemical characteristics of the original raw material positively. Thus, the aim of the present study was to make a comparative evaluation of the physical and physicochemical characteristics, the bioactive compound content and the technological properties of flours produced from the germinated seeds of Pele-de-Sapo, Gália, Cantaloupe and Orange melons, obtained after drying at 50, 60 and 70 ºC. The germinated seed flours of the four melon varieties presented good protein, lipid, ascorbic acid, flavonoid and carotenoid contents, especially Cantaloupe, with the best values for proteins, lipids and carotenoids and the highest phenolic compound contents. All the flours were highly cohesive with low fluidity and good solubility. The variety Cantaloupe provided flours with good water and oil absorption capacities and greater emulsion activities and stability. The highest drying temperatures led to increases in the phenolic compound, flavonoid and carotenoid compounds and increased the Hausner Factor and Carr Index, but reduced the solubility, the water and oil absorption capacities and the emulsion activity. The flours produced showed good nutritional quality and stability, with emphasis on those produced from Cantaloupe melons, which showed the best nutritional characteristics and technological properties.

[Display omitted] • Modified biochars from 2G lignocellulosic residues were synthesized using K 2 CO 3. • Activated and catalytic pyrolysis increased surface area and pore volume of biochar. • Adsorption capacity of methylene blue and 17β-stradiol was investigated. • Kinetic, isotherm and thermodynamic adsorption data were measured and modeled. • Activated and catalytic biochars are viable options for removing emerging pollutants. This work compares the adsorption capacity of methylene blue (MB) and 17β-stradiol (17β-S) onto biochar (B), activated biochar (AB) and catalytic biochar (CB), obtained through pyrolysis of residual lignin of the second-generation (2G) ethanol production process from a sugarcane industry. K 2 CO 3 was used as activating agent and catalyst. Biochars were characterized by the techniques of point of zero charge, nitrogen adsorption and desorption, SEM and FTIR. Kinetic, isothermal and thermodynamic adsorption studies were carried out. Biochars behaved according to the pseudo-second order (PSO) kinetic model, with similar removal percentages of MB using AB and CB. In contrast, AB showed significantly higher removal percentages of 17β-S than CB. The Sips model agreed to isothermal adsorption data of 17β-S onto all biochars. For MB adsorption, Freundlich model agreed to data using B and AB, and Langmuir model was more suitable for CB. The process was viable, spontaneous, endothermic and showed increase in entropy, except for 17β-S adsorption onto CB. Consequently, the activated and catalytic pyrolysis processes increased the adsorptive potential of biochar derived from 2G lignocellulosic residue. Finally, CB and AB obtained significant removal percentage values of MB (85.8–99.3 %) and 17β-S (37.6–76.7 %), where CB is favorable due to its simpler preparation steps. [ABSTRACT FROM AUTHOR]

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The Shortfin Mako (Isurus oxyrinchus) is a pelagic species found in tropical and temperate waters worldwide. Despite being listed as Endangered on the International Union for Conservation of Nature (IUCN) Red List of Threatened Species, Shortfin Mako remains one of the most frequently captured species by industrial fleets and raising concerns about population declines. While interactions with oceanic fleets are well-documented, coastal captures of Shortfin Mako are less reported. In this study, we present the first record of a Shortfin Mako in the Brazilian Amazon Coast. The specimen was captured incidentally by artisanal fishers using a bottom longline at an approximate distance of 12 nautical miles from the shore. Given the challenges in sustainable fisheries and conservation along the Brazilian Amazon Coast and Shortfin Mako´s global vulnerability, comprehensive approaches, including co-participatory management are essential for better understanding the importance of the area for the species.

Reis, AL, Deus, LA, Neves, RVP, Corrêa, HL Reis, TL, Aguiar, LS Honorato, FS, Barbosa, JMS, Araújo, TB, Palmeira, TRC, Simões, HG, Prestes, J, Sousa, CV, Ide, BN, and Rosa, TdS. Exercise-induced transient oxidative stress is mitigated in Down syndrome: insights about redox balance and muscle strength. J Strength Cond Res38(3): e125–e34, 2024—This study aimed to evaluate the acute effects of a session of resistance exercise (RE) performed with elastic tubes on the redox balance and inflammatory profile in individuals with Down syndrome (DS). Subjects (n= 23) were allocated into 2 groups: individuals with DS (DS; n= 11) and individuals without DS (WDS; n= 12), who performed an acute RE session. Diagnostic assessment included medical history, anthropometric measures (body height, body mass, body mass index, and body composition assessment), biological collections, muscle strength assessments (handgrip and maximal voluntary isometric contraction tests), and exercises. The redox balance and inflammatory profile were assessed in urine and saliva samples before and after an acute RE session. There were no differences between WDS and DS groups for body composition (p> 0.05). The DS group presented higher values pre and post an acute RE session with elastic tubes for oxidative and proinflammatory markers compared with WDS (p< 0.05). Uric acid values increased from pre–acute RE session to post–acute RE session for WDS (p< 0.0001). No differences were identified within groups for the delta analysis (p> 0.05). Inverse correlations were found between total force and F2-isoprostane, 8OHdG, uric acid, allantoin, IL-6, TNF-α, and the TNF-α:IL-10 ratio. A positive correlation was found between IL-10 and total force. The DS group presented increased peak force in the knee extension and elbow flexion exercises (∼25 and 12%, respectively) but decreases in handgrip strength of ∼7%. The WDS group showed higher peak force values for knee extension, elbow flexion, and handgrip (∼16, 10, and 14%, respectively). The DS group had lower transient elevation of oxidative stress after an acute RE session compared with WDS. Oxidative stress and inflammation responses of DS to an acute RE session with elastic tubes may be insufficient to induce health adaptations for the same relative load compared with WDS.

This study aimed to assess the effects of spouted bed (SB) drying and freeze‐drying (FD) on the properties of probiotic umbu‐cajá pulp. The strain Bifidobacterium animalisssp. lactiswas employed to obtain this pulp. Initially, the study was conducted with two separate experimental designs, one for SB and another for FD, encompassing variables such as inlet temperature and concentrations of drying adjuvants (maltodextrin and inulin). This approach aimed to identify the most favorable conditions in terms of yield and cell viability. Both drying methods proved effective in preserving probiotic cells, with comparable viable cell counts (12 Log CFU g−1) and process yield of up to 30.68%. Additionally, FD exhibited advantages in preserving and increasing levels of bioactive compounds, including phenolics and carotenoids, in the final product. In contrast, SB drying stood out for retaining carotenoids and exhibiting lower degradation of ascorbic acid. In summary, this study demonstrated that both SB drying and FD are promising approaches in producing powders from probiotic umbu‐cajá pulp. However, the selection between the methods should be guided by specific production goals, considering the desired characteristics of the final product. Spouted bed drying and freeze‐drying were evaluated. Probiotic umbu‐cajá pulp powder is stable and can be stored. Probiotic umbu‐cajá pulp powder had viable cell counts of 12 Log CFU g−1. Freeze‐drying increased levels of bioactive compounds, including phenolics and carotenoids.

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Overcoming food insecurity essentially depends on the political environment and demands the implementation of public policies to ensuring Food and Nutrition Security (FNS). The literature on FNS governance is scarce, prescriptive and not based on empirical studies, especially at subnational levels. The objective of our study was to identify and analyze Governmental Initiatives related to FNS (GIs-FNS) developed in a small, rural Brazilian municipality. We presented an analytical approach to policies in the perspective of the implementation process. We identified GIs-FNS and interviewed 40 managers responsible for these GIs-FNS in 2011 and then again in 2014. The results revealed a promising scenario to deal with food insecurity formed by 33 GIs-FNS classified in six areas of activity: food and water supply (5 GIs-FNS); social protection (11 GIs-FSN); education (3 GIs-FNS); rural development (4 GIs-FNS); Health (9 GIs-FNS); and food safety (1 GIs-FNS). Most GIs were implemented between 2003 and 2014 by the national government at a local level The decentralization design promoted an increase in local government capacity, mainly by (1) decentralizing funding to different levels of the community, (2) generating demands for legal instruments for parliamentarians, (3) stimulating popular insertion in policy councils, and (4) demanding actions to monitor and evaluate public programs. We conclude that the national government implemented coordinated interventions that encouraged local FNS governance and increased local political-administrative capacity, acting in a vulnerable region with the potential to reduce regional and social inequalities.

Wearable devices are increasingly prevalent in research environments for the estimation of energy expenditure (EE) and heart rate (HR). The aim of this study was to validate the HR and EE estimates of the Fitbit charge 2 (FC2), and the EE estimates of the Sensewear armband mini (SWA). We recruited 59 healthy adults to participate in walking, running, cycling, sedentary and household tasks. Estimates of HR from the FC2 were compared to a HR chest strap (Polar) and EE to a stationary metabolic cart (Vyntus CPX). The SWA overestimated overall EE by 0.03 kcal/min−1and was statistically equivalent to the criterion measure, with a mean absolute percentage error (MAPE) of 29%. In contrast, the FC2 was not equivalent overall (MAPE = 44%). In household tasks, MAPE values of 93% and 83% were observed for the FC2 and SWA, respectively. The FC2 HR estimates were equivalent to the criterion measure overall. The SWA is more accurate than the commercial-grade FC2. Neither device is consistently accurate across the range of activities used in this study. The HR data obtained from the FC2 is more accurate than its EE estimates and future research may focus more on this variable.

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F1FO-ATP synthase is the mitochondrial complex responsible for ATP production. During myocardial ischemia, it reverses its activity, hydrolyzing ATP and leading to energetic deficit and cardiac injury. We aimed to discover novel inhibitors of ATP hydrolysis, accessing the druggability of the target within ischemia(I)/reperfusion(R) injury. New molecular scaffolds were revealed using ligand-based virtual screening methods. Fifty-five compounds were tested on isolated murine heart mitochondria and H9c2 cells for their inhibitory activity. A pyrazolo[3,4-c]pyridine hit structure was identified and optimized in a hit-to-lead process synthesizing nine novel derivatives. Three derivatives significantly inhibited ATP hydrolysis in vitro, while in vivo, they reduced myocardial infarct size (IS). The novel compound 31was the most effective in reducing IS, validating that inhibition of F1FO-ATP hydrolytic activity can serve as a target for cardioprotection during ischemia. Further examination of signaling pathways revealed that the cardioprotection mechanism is related to the increased ATP content in the ischemic myocardium and increased phosphorylation of PKA and phospholamban, leading to the reduction of apoptosis.

Fish mislabeling is a global issue with far‐reaching consequences for both food security and biodiversity conservation. This practice involves the intentional or unintentional misidentification of fish species sold in markets and restaurants, often driven by economic gain or cultural preferences. The mislabeling of threatened fish species further exacerbates the problem. This manuscript focuses on an emerging mislabeling practice in the Brazilian Amazon coast, which impacts a critically endangered elasmobranch species, the Daggernose Shark Isogomphodon oxyrhynchus. More specifically, the mislabeling of the Atlantic Tripletail Lobotes surinamensisas the Acoupa Weakfish Cynoscion acoupahas led to intensified fishing activities and incidental capture of the Daggernose Shark. Traditional enforcement approaches have shown limited effectiveness, and alternative conservation interventions, including participatory management and education programs for artisanal fishers, are needed to address this complex issue.

Introduction: The present study had the objective to describe the molecular prevalence and epidemiological aspects of the human T-lymphotropic virus 2 (HTLV-2) infection in the blood donor population of the Pará state. Methods: The present study is a descriptive, retrospective, and cross-sectional review of epidemiological, serological, and molecular data on inapt blood donors in the State Center for Hematology and Hemotherapy from January 2015 to December 2021. The data were digitalized to create a database using the Statistical Package for Social Sciences program. The prevalence of HTLV-2 was calculated based on the total number of donations during the study period. Descriptive frequency was used to analyze the qualitative data. Results: A total of 665,568 blood donations were made. Out of these, 1884 (0.2%) samples presented serological detection to HTLV and further were evaluated using molecular confirmatory tests. Out of these, 36 samples were positive for HTLV-2 using qPCR Taqman assay based on pol gene region (0.005%). The HTLV-2 was found to be more prevalent in women (63.9%); aged between 39 and 59 years (55.6%); residents of the metropolitan region of Belém (80.6%); with self-declared race as brown (80.6%); individuals who had completed high school (58.6%); and first-time donors (58.3%) Conclusion: The present study identified the presence of HTLV-2 (1 HTLV-2 case/20,000 donations; 0.005%) in the specific population of blood donors in Pará state. These findings can contribute to the existing literature on the subject both for specific population groups under study and for understanding the prevalence of HTLV-2 in the general population.

Over the years, the need for energy consumption has been increasing in all sectors of society. Consequently, discussions about renewable energy sources such as wind, solar, hydraulic and wave energy are increasingly being guided in all global environmental political discussions. More specifically, wind energy, mainly offshore, has been increasingly highlighted due to the large area to be explored. Thus, the objective of this work was to study the offshore wind profiles using five different estimation methodologies, verifying which is the best and worst scenario of wind potential. For this purpose, data from the SODAR of “Ômega Energia” located in the state of Maranhão, in the Northeast of Brazil were used; the data from the ERA5 Reanalysis and the data from the Wobben Windpower E-82 E4 wind turbine, with a nominal power of 3000 KW (3 MW). The results showed that the best method for estimating wind profiles both for this location and for the entire Northeast region of Brazil was the method using Taylor & Yelland [28] roughness estimate calculation, which considers a stable atmosphere. Comparatively, the best estimate scenario showed a gain of 0.65 MW of power generation when compared to the worst scenario.

Parasitic nematodes are a major threat to global food security, particularly as the world amasses 10 billion people amid limited arable land1–4. Most traditional nematicides have been banned owing to poor nematode selectivity, leaving farmers with inadequate means of pest control4–12. Here we use the model nematode Caenorhabditis elegansto identify a family of selective imidazothiazole nematicides, called selectivins, that undergo cytochrome-p450-mediated bioactivation in nematodes. At low parts-per-million concentrations, selectivins perform comparably well with commercial nematicides to control root infection by Meloidogyne incognita, a highly destructive plant-parasitic nematode. Tests against numerous phylogenetically diverse non-target systems demonstrate that selectivins are more nematode-selective than most marketed nematicides. Selectivins are first-in-class bioactivated nematode controls that provide efficacy and nematode selectivity.

Background: Bioelectrical impedance analysis (BIA) is a technique widely used for estimating body composition and health-related parameters. The technology is relatively simple, quick, and non-invasive, and is currently used globally in diverse settings, including private clinicians’ offices, sports and health clubs, and hospitals, and across a spectrum of age, body weight, and disease states. BIA parameters can be used to estimate body composition (fat, fat-free mass, total-body water and its compartments). Moreover, raw measurements including resistance, reactance, phase angle, and impedance vector length can also be used to track health-related markers, including hydration and malnutrition, and disease-prognostic, athletic and general health status. Body composition shows profound variability in association with age, sex, race and ethnicity, geographic ancestry, lifestyle, and health status. To advance understanding of this variability, we propose to develop a large and diverse multi-country dataset of BIA raw measures and derived body components. The aim of this paper is to describe the ‘BIA International Database’ project and encourage researchers to join the consortium. Methods: The Exercise and Health Laboratory of the Faculty of Human Kinetics, University of Lisbon has agreed to host the database using an online portal. At present, the database contains 277,922 measures from individuals ranging from 11 months to 102 years, along with additional data on these participants. Conclusion: The BIA International Database represents a key resource for research on body composition.

The importance of dynamometric and anthropometric information for industry is known; however, few studies have investigated the relationship between anthropometry and handgrip strength (HGS) in adolescents. The aim of the present study was to investigate the association of anthropometric variables with the level of HGS production in adolescents. Participants were 541 adolescents aged 12–16 years from a public school in the city of Rio de Janeiro. The behavior of the following variables was examined: the ability to generate HGS, age, total body mass, height and hand dimensions (hand width, hand span, hand length). The results showed an increase in the ability to generate HGS in adolescence and a significant difference between the genders from 13 years old, where boys generated higher HGS values. Correlations between HGS and total body mass and the hand width stood out in both genders, indicating a greater association.

This work aimed to understand how lifelong exercise training promotes the remodelling of the immune system and prostate signalome in a rat model of PCa. Fifty-five male Wistar rats were divided into four groups: control sedentary, control exercised, induced PCa sedentary and induced PCa exercised. Exercised animals were trained in a treadmill for 53 weeks. Pca induction consisted on the sequential administration of flutamide, N-methyl-N-nitrosourea and testosterone propionate implants. Serum concentrations of C-reactive protein (CRP) and tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK) were not different among groups. Peripheral levels of γδ T cells were higher in Pca exercised group than in the PCa sedentary group (p< 0.05). Exercise training also induced Oestrogen Receptor (ESR1) upregulation and Mitogen-activated Protein Kinase 13 (MAPK13) downregulation, changed the content of the phosphorylated (at Ser-104) form of this receptor (coded by the gene ESR1) and seemed to increase Erα phosphorylation and activity in exercised PCa rats when compared with sedentary PCa rats. Our data highlight the exercise-induced remodelling of peripheral lymphocyte subpopulations and lymphocyte infiltration in prostate tissue. Moreover, exercise training promotes the remodelling prostate signalome in this rat model of prostate carcinogenesis.