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Background: Erythrocytosis is a relatively common condition, however a large proportion of these patients (70%) remain without a clear etiologic explanation. Methods: We set up a targeted NGS panel for patients with erythrocytosis and 118 sporadic patients with idiopathic erythrocytosis were studied. Results: In 40 (34%) patients no variant was found while in 78 (66%) we identified at least one germinal variant; 55 patients (70.5%) had 1 altered gene, 18 (23%) had 2 alterations, and 5 (6.4%) had 3. An altered HFE gene was observed in 51 cases (57.1%), EGLN1 in 18 (22.6%) and EPAS1, EPOR, JAK2, and TFR2 variants in 7.7%, 10.3%, 11.5%, and 14.1% patients, respectively. In 23 patients (19.45%), more than 1 putative variant was found in multiple genes. Conclusions: Genetic variants in patients with erythrocytosis were detected in about 2/3 of our cohort. A NGS panel including more candidate genes should reduce the number of cases diagnosed as “idiopathic” erythrocytosis in whom a cause cannot yet be identified. It is known that HFE variants are common in idiopathic erythrocytosis. TFR2 alterations supports the existence of a relationship between genes involved in iron metabolism and impaired erythropoiesis. Some novel multiple variants were identified. Erythrocytosis appears to be often of multigenic nature.

The advent of bioprinting has enabled the creation of precise three‐dimensional (3D) cell cultures suitable for biomimetic in vitro models. In this study, we developed a novel protocol for 3D printing methacrylated collagen (ColMa, or PhotoCol®) combined with tendon stem/progenitor cells (hTSPCs) derived from human tendon explants. Although pure ColMa has not previously been proposed as a printable hydrogel, this paper outlines a robust and highly reproducible pipeline for bioprinting this material. Indeed, we successfully fabricated a 3D bioengineered scaffold and cultured it for 21 days under perfusion conditions with medium supplemented with growth/differentiation factor‐5 (GDF‐5). This bioprinting pipeline and the culture conditions created an exceptionally favorable 3D environment, enabling the cells to proliferate, exhibit tenogenic behaviors, and produce a new collagen type I matrix, thereby remodeling the surrounding environment. Indeed, over the 21‐day culture period under perfusion condition, tenomodulin expression showed a significant upregulation on day 7, with a 2.3‐fold increase, compared to days 14 and 21. Collagen type I gene expression was upregulated nearly 10‐fold by day 14. This trend was further confirmed by western blot analysis, which revealed a statistically significant difference in tenomodulin expression between day 21 and both day 7 and day 14. For type I collagen, significant differences were observed between day 0 and day 21, as well as between day 0 and day 14, with a p‐value of 0.01. These results indicate a progressive over‐expression of type I collagen, reflecting cell differentiation towards a proper tenogenic phenotype. Cytokines, such as IL‐8 and IL‐6, levels peaked at 8566 and 7636 pg/mL, respectively, on day 7, before decreasing to 54 and 46 pg/mL by day 21. Overall, the data suggest that the novel ColMa bioprinting protocol effectively provided a conducive environment for the growth and proper differentiation of hTSPCs, showcasing its potential for studying cell behavior and tenogenic differentiation. [ABSTRACT FROM AUTHOR]

Neste artigo, apresentam-se resultados de pesquisa vinculado ao projeto trienal (2018/2021) do Grupo de Estudo e Pesquisa Linguagem Oral, Leitura e Escrita na Infância (UFMT), em que se enfocam narrativas/voos de pesquisador/a e professor/a mediante pesquisa colaborativa sobre as vivências de crianças e estudantes do curso de Pedagogia, a partir das asas da literatura infantil como direito incompressível na formação do ser humano. Os participantes se relacionaram com a linguagem poética em saraus de leitura, criação de um livro de poemas e sessão de autógrafos organizados por crianças-alunos, vivenciando os jogos de ser autor, leitor e ilustrador. Constatou-se que ensinar e aprender a ler e a escrever como um processo discursivo – na interação, interlocução dialógica e produção de significados/sentidos – é um constante exercício de (trans)formação/voos, individuais e/ou coletivos, nas relações entre professores(as) e crianças-alunos como autoras, leitoras, ilustradoras.

This article discusses a case of Bernard-Soulier Syndrome (BSS), a severe congenital bleeding disorder caused by deficiency or dysfunction of the glycoprotein GPIb-IX-V complex (GP complex) on platelets. The case involves a 17-year-old patient with thrombocytopenia and recurrent epistaxis. Genetic analysis revealed a homozygous frameshift variant in the GP9 gene and a missense variant in the GP1BB gene. The authors suggest that these variants may have a synergistic negative effect on the clinical phenotype of BSS. However, further functional studies are needed to confirm this hypothesis. [Extracted from the article]

Impulsive behaviour is common in various neuropsychiatric disorders. Here, the authors identify a pathway from the lateral hypothalamus to the ventral hippocampus and the role of melanin-concentrating hormone signaling in these neurons in specifically regulating impulsivity.

Con el objetivo de analizar la contribución de la literatura infantil, especialmente, de tradición oral al desarrollo de la primera infancia, se realizó una investigación de maestría en educación de enfoque cualitativo, bajo una observación participante donde se desenvolvieron una serie de actividades con literatura de tradición oral en niños de preescolar en Antioquia-Colombia. Los resultados permiten constatar que el trabajo literario aporta al desarrollo del pensamiento, lenguaje y las habilidades sociales a través de la cultura y la interacción social con el medio contiguo, así pues, este tipo de actividades pueden ser aplicables en cualquier contexto del ser humano.

Neste artigo apresentam-se resultados parciais de pesquisas que visam a contribuir para a ampliação da compreensão sobre o processo discursivo no ensino inicial da leitura e da escrita para crianças de escolas públicas, em Mato Grosso. Elaborou-se um instrumento de pesquisa mediante revisão bibliográfica e documental e a análise da configuração textual da tese de Ana Luiza Smolka. O mapeamento preliminar da produção acadêmica indica que essa proposta tem se disseminado pelas cinco regiões do país e que, ao se apropriarem dessa concepção, as alfabetizadoras experimentaram a função transformadora da linguagem em suas salas e relações de ensino dentro e fora da escola, transformando a monotonia em espaços dinâmicos e saborosos de ensinar-aprender a serem autoras e protagonistas de suas histórias de ler e escrever.

Feeding-relevant vagal signaling occurs between the gastrointestinal tract and the brain, but it is unclear if this pathway influences cognitive processes. This study shows that endogenous gastrointestinal derived vagal sensory signaling promotes hippocampal-dependent memory function via a multi-order brainstem–septal pathway.

Objective: Glucagon-like peptide-1 (GLP-1) neurons in the hindbrain densely innervate the dorsomedial hypothalamus (DMH), a nucleus strongly implicated in body weight regulation and the sympathetic control of brown adipose tissue (BAT) thermogenesis. Therefore, DMH GLP-1 receptors (GLP-1R) are well placed to regulate energy balance by controlling sympathetic outflow and BAT function. Methods: We investigate this possibility in adult male rats by using direct administration of GLP-1 (0.5 ug) into the DMH, knocking down DMH GLP-1R mRNA with viral-mediated RNA interference, and by examining the neurochemical phenotype of GLP-1R expressing cells in the DMH using in situ hybridization. Results: GLP-1 administered into the DMH increased BAT thermogenesis and hepatic triglyceride (TG) mobilization. On the other hand, Glp1r knockdown (KD) in the DMH increased body weight gain and adiposity, with a concomitant reduction in energy expenditure (EE), BAT temperature, and uncoupling protein 1 (UCP1) expression. Moreover, DMH Glp1r KD induced hepatic steatosis, increased plasma TG, and elevated liver specific de-novo lipogenesis, effects that collectively contributed to insulin resistance. Interestingly, DMH Glp1r KD increased neuropeptide Y (NPY) mRNA expression in the DMH. GLP-1R mRNA in the DMH, however, was found in GABAergic not NPY neurons, consistent with a GLP-1R-dependent inhibition of NPY neurons that is mediated by local GABAergic neurons. Finally, DMH Glp1r KD attenuated the anorexigenic effects of the GLP-1R agonist exendin-4, highlighting an important role of DMH GLP-1R signaling in GLP-1-based therapies. Conclusions: Collectively, our data show that DMH GLP-1R signaling plays a key role for BAT thermogenesis and adiposity. Keywords: Neuropeptide, Hypothalamus, Sympathetic nerve, Adipose tissue, Obesity

Resumo O estudo nasce das inquietações sobre a conscientização da relevância de pesquisas que dialoguem entre a Educação Ambiental, as concepções dos estudos de Paulo Freire voltados à cidadania planetária e o compromisso com a formação humana. Tem como foco analisar ações conscientes dos professores e alunos comprometidos com a sociedade, e que se questionam acerca do que se pretende para o futuro de nossos cidadãos. Busca levantar a contribuições das pesquisas que contemplam Freire (1980,1987,1996,2007,2008), como Gadotti,(2001,2008,2009.2010) e Cortella (2008,2010) entre outros, com o objetivo de uma análise crítica sobre as práticas docentes dos profissionais da Educação sobre o Meio Ambiente e a conscientização da Humanização frente a realidade. Visa a participação da escola em ações interdisciplinares nas quais envolva profissionais da educação, da comunidade, asseguradas nas políticas públicas e no compromisso social para o enfrentamento dos desastres ambientais que envolvem grupos ou pessoas que ocupam espaços vulneráveis. Palavras chave: cidadania planetária; educação ambiental; gerenciamento de riscos; Humanização; compromisso profissional. Abstract The study concerns about the relevance of research about Environmental Education, the conceptions of Paulo Freire's studies focused on planetary citizenship and the commitment to human formation. Its focus is to analyze conscious actions of teachers and students committed to society, and who are questioning about what is intended for the future of our citizens. It seeks to raise the contributions of Freire (1980,1987,1996,2007,2008), as Gadotti, (2001,2008,2009.2010) and Cortella (2008,2010) among others, looking for a critical analysis on the teaching practices of Environmental Education professionals and the awareness of Humanization. It aims at the participation of the school in interdisciplinary actions in which it involves professionals of education, of the community, assured in the public policies and the social commitment to the confrontation of the environmental disasters that involve groups or people occupying spaces vulnerable. Keywords: planetary citizenship; environmental education; Risk management; Humanization; commitment.