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Pathoanatomical studies of diseases that affect wild animals are extremely important as appropriate measures can then be taken for the prevention and control of such diseases. We report here the case of death of a greater rhea (Rhea americana) by intestinal intussusception secondary to the ingestion of a large amount of sand. The animal was bred at the Center for Multiplication of Wild Animals of the Federal Rural University of the Semi-Arid. The animal died after presenting clinical signs of apathy, weakness, prostration, and inability to move, drink water, or eat. After death, the carcass was immediately sent for necropsy. During necropsy, intussusception was found involving the jejunum, ileum, and colon. The duodenum contained large amounts of coarse sand. The invaginated intestinal segments were reddish in color, with necrotic spots, and covered by a fibrinous exudate. Histopathological examination of the invaginated segments showed necrosis of the enterocytes, detachment of the intestinal epithelium, and the presence of inflammatory cells. The ingestion of a large amount of sand may have resulted in altered intestinal transit, contributing to the occurrence of intussusception, which resulted in ischemic alterations, intestinal necrosis, and consequent death of the animal.

Rafael Gauche,1 Ricardo M Lima,1,2 Jonathan Myers,2 André B Gadelha,1 Silvia GR Neri,1 Claudia LM Forjaz,3 Lauro C Vianna1 1Faculty of Physical Education, University of Brasília, Brasília, Brazil; 2Cardiology Division, Veterans Affairs Palo Alto Health Care System and Stanford University, Palo Alto, CA, USA; 3School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil Purpose: This study aimed to investigate the effects of resistance exercise (RE) on autonomic control and blood pressure (BP) reactivity during mental stress (MS) in treated older hypertensive women. Methods: Ten older hypertensive women (age =71.1±5.5 years; body mass index =24.2±3.9; mean BP [MBP] =85.4±3.5) underwent a protocol consisting of BP and heart rate variability (HRV) output assessments at baseline and during MS, and these measurements were taken before and 60 minutes after two bouts of RE (traditional and circuit). MS was induced through a computerized 3-minute Stroop color–word test before and 1 hour after each exercise session; BP was measured every minute during MS, and HRV was monitored as a measure of cardiac autonomic control. Results: A significant effect of time on systolic BP (∆pre =17.4±12.8 versus ∆post =12.5±9.6; P=0.01), diastolic BP (∆pre =13.7±7.1 versus ∆post =8.8±4.5; P=0.01), and MBP (∆pre =14.0±7.7 versus ∆post =9.3±5.4; P

The selection of strategic conservation areas is a complex undertaking that requires the integration of various elements, including planning, indicators, and mapping. An extensive evaluation of vertebrate distribution patterns in Espírito Santo state, southern Brazil, revealed the existence of four consensus areas defined by two endemicity methods that can be designated as priority regions for multitaxa conservation. A brief remark is made regarding the importance of endemic areas and biogeographic units in the definition of priority areas for conservation.

Introdução: Quadros de demência são cada vez mais prevalentes entre a população. Uma das causas mais frequentes de demência é a doença de Alzheimer (DA). Testes de rastreio têm sido utilizados visando ao diagnóstico precoce da DA, especificamente aqueles relativos às funções executivas e de linguagem, comprometidas na fase inicial. Existem poucos instrumentos padronizados e validados para o nosso meio. Objetivo: Analisar o impacto do tamanho das sentenças na abstração dos provérbios, no Teste de Rastreio da Doença de Alzheimer com Provérbios (TRDAP), em idosos saudáveis e com DA em fase inicial. Método: Levantamento documental (banco de dados), analisando-se as respostas dos idosos (interpretação abstrata ou concreta dos provérbios), relacionando o tamanho das sentenças (provérbios) da etapa "B" do TRDAP com o diagnóstico da DA e a interferência das variáveis idade e escolaridade. Resultados: Idosos saudáveis apresentaram maior capacidade de abstração do que os com DA. Houve diferença significativa nos provérbios 1 (p = 0,033) e 2 (p = 0,001), correspondendo às menores sentenças, o que não ocorreu com o provérbio 3 (p = 0,090), com sentença maior. Quanto à idade, não se verificou diferença significativa entre os saudáveis e entre os DA, ocorrendo apenas com o provérbio 3; já a escolaridade só diferenciou os saudáveis. Conclusão: Idosos com DA, na fase inicial, apresentam desempenho inferior na compreensão de sentenças ambíguas, interpretação e abstração de provérbios, corroborando a literatura. O tamanho dessas sentenças mostra-se inversamente proporcional ao acerto da interpretação, em idosos com e sem DA. Quanto menor a sentença, melhor a capacidade de abstração.

Abstract Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019. Results The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF. Conclusion This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.

Abstract Background The COVID-19 pandemic has been the most significant health challenge of the last century. Multiple and successive waves of COVID-19 cases, driven particularly by the emergence of new SARS-CoV-2 variants, have kept the world in a constant state of alert. Methods We present an observational, descriptive, cross-sectional study aimed at identifying SARS-CoV-2 variants circulating during two local waves of COVID-19 cases in southern Bahia, Brazil (late 2021 and late 2022), and analyzing the association between the detected variants and the epidemiological and clinical characteristics of the disease. For this purpose, data and nasopharyngeal samples from individuals in southern Bahia, Brazil, with suspected COVID-19 were included. Viral detection was performed by RT-qPCR, and SARS-CoV-2 variants were identified by next-generation viral sequencing. Results A total of 368 nasopharyngeal samples were tested. Approximately 23% of the samples from late 2021 tested positive for SARS-CoV-2, while in 2022, the positivity rate was about 56%. All sequenced samples from 2021 were identified as the Delta variant, while in 2022, all samples were classified as the Omicron variant. Overall, individuals who tested positive for SARS-CoV-2 in 2022 were younger than those who tested positive in 2021. Moreover, we observed significant differences in the clinical spectrum of SARS-CoV-2 infection when comparing the two periods. Individuals who presented with anosmia/ageusia were more likely to test positive for SARS-CoV-2 infection in 2021 but not in 2022. Additionally, fever, dry cough, pharyngalgia, headache, and rhinorrhea were more frequent among individuals infected with the Omicron variant than among those infected with the Delta variant. Conclusions The profile of COVID-19 in southern Bahia differed when analyzing two distinct waves of the pandemic in the region. These differences are likely related to the variants, which may differ in transmissibility and virulence, thereby altering the dynamics of the pandemic. This underscores the importance of genomic surveillance in better understanding the behavior of viral infections.

Abstract Gaucher Disease (GD) is an autosomal recessive, lysosomal storage disease caused by pathogenic variants in the glucocerebrosidase gene, leading to the loss of β-glucocerebrosidase (GCase) enzymatic activity. Enzyme replacement therapy (ERT) with recombinant GCase is the standard of care in GD patients. Our study investigates the combined use of in silico molecular evolution, synthetic biology and gene therapy approaches to develop a new synthetic recombinant enzyme. We engineered four GCases containing missense mutations in the signal peptide (SP) from four selected mammalian species, and compared them with human GCase without missense mutations in the SP. We investigated transcriptional regulation with CMV and hEF1a promoters alongside a GFP control construct in 293-FT human cells. One hEF1a-driven mutant GCase shows a 5.2-fold higher level of transcription than control GCase. In addition, this mutant exhibits up to a sixfold higher activity compared with the mock-control, and the predicted tertiary structure of this mutant GCase aligns with human GCase. We also evaluated conserved and coevolved residues mapped to functionally important positions. Further studies are needed to assess its functionality in a GD animal model. Altogether, our findings provide in vitro evidence of the potential of this engineered enzyme for improved therapeutic effects for GD. Article highlights. Conservation and coevolution analysis of amino acid frequencies in GBA1 homologs of pathogenic variants associated with Gaucher disease, Parkinson’ disease risk or Dementia with Lewy bodies risk. Graphic Abstract

Pituitary gigantism is a rare pediatric disorder caused by excess growth hormone (GH) secretion. In almost 50% of cases, a genetic cause can be identified, with pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene being the most common. We present a case of an 11-year-old boy who exhibited progressive vision loss, associated with accelerated linear growth, and weight gain. On physical examination, he had enlarged hands, right eye amaurosis, and was already above his target height. Increased GH and IGF-I concentrations confirmed the diagnosis of pituitary gigantism. Magnetic resonance imaging showed a giant sellar lesion with supra- and para-sellar extensions. He underwent two surgeries which did not achieve a cure or visual improvement. Histopathological analysis revealed a sparsely granulated tumor, negative for somatostatin receptor type 2 (SST2) and an immunoreactivity score of 6 for somatostatin receptor type 5 (SST5). Our published artificial intelligence prediction model predicted an 83% chance of not responding to first-generation somatostatin receptor ligands. Pasireotide was therefore prescribed, and afterward cabergoline was added on. IGF-I concentrations decreased but did not normalize. We discovered a novel germline single nucleotide variant in the splicing donor region of intron 2 of the AIP gene (NM_003977.4:c.279+1 G>A), classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines.

Game designers and researchers have sought to create gameful environments that consider user preferences to increase engagement and motivation. In this sense, it is essential to identify the most suitable game elements for users' profiles. Designers and researchers must choose strategies to classify users into predefined profiles and select the most appropriate game elements for each user. This activity may challenge designers, learning designers, and researchers since they must base their choice on personal aspects that require a deep understanding. Therefore, this article aims to assist game designers, learning designers, and researchers in selecting user classification strategies to customize and personalize game-based and gamified learning environments. By conducting systematic literature mapping, we consolidate the most common strategies and explore their applications in games and gamification. Our analysis, based on 25 publications, reveals that we can classify the strategies according to user interaction, user personality, learning style, and motivation for learning. Strategies based on user interactions emerge as the most popular, while questionnaires and log data systems are commonly used instruments for identifying user profiles. The findings of this SLM offer valuable knowledge for game designers and researchers to define the criteria that will be used to evaluate the effect of games and gamified environments in educational contexts.

Pedro Ferreira Alves Oliveira,1 André Bonadias Gadelha,2 Rafael Gauche,2 Flávio Macedo Lahud Paiva,2 Martim Bottaro,2 Lauro C Vianna,2 Ricardo Moreno Lima2 1Department of Physical Education, Instituto Federal de Brasília, 2College of Physical Education, University of Brasília, Brasília, DF, Brazil Purpose: To examine the effects of resistance training (RT) on metabolic syndrome-related phenotypes in postmenopausal women. Patients and methods: Twenty-two postmenopausal women (65.0±4.2 years) underwent 12 weeks of whole body progressive training with intensity prescribed based on rating of perceived exertion. Dominant knee extension strength was assessed using an isokinetic dynamometer before and after the intervention. Moreover, all volunteers had blood samples collected for lipid profile, glycemic control, and C-reactive protein analyses. Waist circumference and arterial blood pressure were also measured at baseline and after the training period. Student’s t-tests for paired samples and repeated measures ANOVA were used to compare dependent variables, and statistical significance was set at P

Problem The coronavirus disease 2019 (COVID-19) pandemic has highlighted global disparities in accessing essential health products, demonstrating the critical need for low- and middle-income countries to develop local production and innovation capabilities. Approach The health economic-industrial complex approach changed the values that guided innovation and industrial policies in Brazil. The approach directed health production and innovation to universal access; the health ministry led a whole-of-government approach; and public procurement was strategically applied to stimulate productive public and private investments. The institutional, technological and productive capacities built up by the health economic-industrial complex allowed the country to quickly establish local COVID-19 vaccines production and guarantee access for the population. Local setting Brazil has a universal health system that guarantees access to health for its 215 million population. Relevant changes Public policies and actions, based on the health economic-industrial complex, guided investment projects in line with health demands, strengthened local producers, and increased autonomy in the production of health products in areas of greater technological dependence. During the COVID-19 pandemic, the country was able to rapidly scale up local vaccine production. By August 2021, Brazil had produced 74.8% (151 463 502/202 437 516) of the vaccine doses used in the country. Lessons learnt The Brazilian example shows that low- and middle-income countries can build systemic development policies that increase their capability to produce and innovate in concert with universal health systems. This increased capacity can guarantee access to health products and supplies that are critical during global health emergencies. [phrase omitted] Probleme La pandemie de maladie a coronavirus 2019 (COVID-19) a mis en lumiere les disparites mondiales en matiere d'acces aux produits medicaux essentiels, soulignant la necessite, pour les pays a revenu faible et intermediaire, de developper des capacites locales de production et d'innovation. Approche Le complexe economique-industriel de la sante a redefini les valeurs qui guident les politiques d'innovation et les politiques industrielles au Bresil. Ce complexe a reoriente la production et l'innovation dans le domaine de la sante vers un acces universel; le Ministere de la Sante a adopte une approche pangouvernementale; et enfin, les marches publics ont ete passes de maniere strategique afin de stimuler les investissements productifs dans les secteurs public et prive. Les capacites institutionnelles, technologiques et productives developpees par le complexe economique-industriel de la sante ont permis au pays d'etablir rapidement une production locale de vaccins contre la COVID-19 et d'en assurer l'acces a la population. Environnement local Le Bresil possede un systeme de sante universel permettant a ses 215 millions d'habitants de beneficier d'une prise en charge medicale. Changements significatifs Les politiques et actions publiques fondees sur le complexe economique-industriel de la sante ont donne lieu a des projets d'investissement correspondant aux exigences sanitaires, soutenu les producteurs locaux et favorise une autonomie accrue dans la fabrication de produits medicaux au sein des regions plus dependantes sur le plan technologique. Durant la pandemie de COVID-19, le pays a pu rapidement accroitre sa production de vaccins. En aout 2021, le Bresil produisait 74,8% (151 463 502/202 437 516) des doses utilisees sur son territoire. Lecons tirees Lexemple du Bresil montre que les pays a revenu faible et intermediaire peuvent instaurer des politiques de developpement systemiques qui renforcent leurs capacites de production et d'innovation, et vont de pair avec des systemes de sante universels. Cette augmentation des capacites est susceptible de garantir un acces aux equipements et produits medicaux essentiels en cas d'urgence sanitaire mondiale. [phrase omitted] Situacion La pandemia de la enfermedad por coronavirus de 2019 (COVID-19) ha evidenciado las disparidades mundiales en el acceso a productos sanitarios esenciales, demostrando la necesidad critica de que los paises de ingresos bajos y medios desarrollen capacidades locales de produccion e innovacion. Enfoque El enfoque del complejo economico e industrial de la salud cambio los valores que guiaban la innovacion y las politicas industriales en Brasil. El enfoque oriento la produccion y la innovacion sanitarias hacia el acceso universal; el ministerio de salud lidero un enfoque de todo el gobierno; y la contratacion publica se aplico estrategicamente para estimular las inversiones productivas publicas y privadas. Las capacidades institucionales, tecnologicas y productivas creadas por el complejo economico e industrial de la salud permitieron al pais establecer rapidamente la produccion local de vacunas contra la COVID-19 y garantizar el acceso de la poblacion. Marco regional Brasil tiene un sistema sanitario universal que garantiza el acceso a la salud a sus 215 millones de habitantes. Cambios importantes Las politicas y acciones publicas, basadas en el complejo economico e industrial de la salud, orientaron los proyectos de inversion en funcion de las demandas sanitarias, reforzaron a los productores locales y aumentaron la autonomia en la produccion de productos sanitarios en las areas de mayor dependencia tecnologica. Durante la pandemia de la COVID-19, el pais fue capaz de escalar rapidamente la produccion local de vacunas. En agosto de 2021, Brasil habia producido el 74,8% (151 463 502/202 437 516) de las dosis de vacunas utilizadas en el pais. Lecciones aprendidasEl ejemplo brasileno demuestra que los paises de ingresos bajos y medios pueden crear politicas de desarrollo sistemicas que aumenten su capacidad de producir e innovar en colaboracion con los sistemas sanitarios universales. Esta mayor capacidad puede garantizar el acceso a productos y suministros sanitarios que son fundamentales durante las emergencias sanitarias mundiales., Introduction During the coronavirus disease 2019 (COVID-19) pandemic, global disparities in production and innovation capacities resulted in the lack of access to essential health products and services, such as COVID-19 [...]