Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae reveals different chromosome number for the genus

Cytogenetic analysis of the Amazon stingless bee Melipona seminigra merrillae, by conventional Giemsa staining and C-banding, revealed a different chromosome number for Melipona: 2n = 22 for females and diploid drones while the haploid drones present n = 11. There is no evidence of B chromosomes. This result contrasts with previous studies, in which the chromosome number of 19 Melipona species was determined as 2n = 18 for females and n = 9 for haploid males. Based on cytogenetic information available for other Melipona species, we propose that M. s. merrillae has a more derived diploid number. This indicates that chromosome number is not a conservative characteristic within the genus as previously thought. Cytogenetic data for stingless bees are scarce, especially in Amazon region. Additional studies will be very important in order to promote Melipona karyoevolution discussion and consequently a taxonomy review

Conhecimento do Profissional Médico que Atua na APS de Foz do Iguaçu-PR sobre Genética Médica Comunitária

Países em desenvolvimento, como o Brasil, estão passando por uma transição epidemiológica, com um aumento relativo dos fatores genéticos como causa de doença e morte. Assim, inserir Genética Médica no cotidiano da Atenção Primária à Saúde (APS) torna-se uma opção para o desenvolvimento e fortalecimento de ações de prevenção e controle, bem como a facilitação do acesso aos usuários, aos cuidados de saúde. Assim, esta pesquisa visou avaliar o nível de conhecimento sobre a Genética Médica Comunitária dos médicos que atuam na APS de Foz do Iguaçu, PR, bem como identificar as temáticas genéticas que mais geram desconforto e verificar se existe interesse em cursos de atualização na área de Genética Médica Comunitária. A amostragem foi composta por profissionais médicos que atuam na APS de Foz do Iguaçu, PR, totalizando 110 sujeitos. A presente pesquisa teve cunho observacional, descritivo e pesquisa de campo, com abordagem quantitativa e qualitativa. Para tanto, foi utilizado um questionário com perguntas fechadas e abertas, sendo os dados coletados por meio do Formulários Google entre os meses de março a agosto de 2020. Apenas 21,82% dos médicos que atuam na APS em Foz do Iguaçu aceitou participar da pesquisa e respondeu o questionário. Destes, a maioria é de brasileiros jovens, formados no Brasil na última década e que tiveram a disciplina Genética como componente curricular obrigatório. A maioria dos médicos não fez nenhuma residência médica e tem mais de 4 anos de experiência em atendimentos na Atenção Primária. Com relação à atualização em genética médica após a formação acadêmica, 70,8% respondeu que não buscou. Porém 83,3% dos participantes revelaram que já se depararam com casos de Doenças Genéticas na Atenção Primária à Saúde e a maioria dos médicos indicou que possui conhecimento razoável sobre genética, mas 62,5% relatou que seus conhecimento em Genética Médica para atuar na APS são intermediários. Isso culmina em apenas 50% dos entrevistados se sentindo confiante para dar orientações sobre genética para pacientes/famílias que acompanham. Ainda, o presente estudo demonstra que estes médicos possuem insegurança, incertezas e dúvidas com relação aos encaminhamentos, sendo também evidente que nem sempre os profissionais conseguem reconhecer a influência da genética nas patologias. Estes dados indicam a necessidade da implantação de estratégias para formação continuada dos médicos que atuam na APS de Foz do Iguaçu, promovendo a aproximação da Universidade com o Serviço, além da melhoria do serviço prestado à comunidade

New mutation in the CDKN2A gene in brazilian patients with cutaneous melanoma: a pilot study

Melanoma is a type of skin cancer very known for its aggressiveness and prognosis detected in the metastatic phases. Several mutations were identified, and in addition to the variations of this disease, predisposition has also been described in the CDKN2A gene. In the present study, 55 individuals had the CDKN2A gene sequenced and evaluated. Only one alteration was highlighted in one individual with melanoma, with this alteration being a substitution of guanine to adenine in position 436 (436 G>A), which affects exon 2 and leads to the alteration in the amino acid aspartate for an asparagine in codon 146 (Asp146Asn) from the CDKN2A gene. This found mutation is different from the ones related to the individuals in Brazil associated with the CDKN2A gene, and it is also not among the most common ones found in different countries and continents

Comparative cytogenetics of Carnegiella marthae and Carnegiella strigata (Characiformes, Gasteropelecidae) and description of a ZZ/ZW sex chromosome system

Comparative cytogenetic analyses of hatchetfishes Camegiella marthae and Camegiella strigata (Gasteropelecidae) from the Rio Negro basin were performed using conventional Giemsa staining, silver (Ag)-staining and C-banding. The diploid chromosome numbers of both species equaled 2n = 50 but their karyotypes were distinct. We found evidence for sex chromosomes in C. marthae since karyotype of males presented 20 M + 12 SM + 4 ST + 14 A and ZZ ST chromosomes while the females presented 20 M + 12 SM + 4 ST + 14 A and ZW ST chromosomes of distinct size. Conversely, C. strigata presented 4 M + 4 SM + 2 ST + 40 A chromosomes without sex chromosome heteromorphism. Karyotypes of both species had two NOR-bearing SM chromosomes of distinct size indicating the presence of multiple NOR phenotypes. The sex chromosome pair had specific C-banding pattern allowing identification of both Z and W. This heteromorphic system has previously been described for the gasteropelecids. Copyright © 2008, Sociedade Brasileira de Genética

Chromosomal distribution of microsatellite repeats in Amazon cichlids genome (Pisces, Cichlidae)

Fish of the family Cichlidae are recognized as an excellent model for evolutionary studies because of their morphological and behavioral adaptations to a wide diversity of explored ecological niches. In addition, the family has a dynamic genome with variable structure, composition and karyotype organization. Microsatellites represent the most dynamic genomic component and a better understanding of their organization may help clarify the role of repetitive DNA elements in the mechanisms of chromosomal evolution. Thus, in this study, microsatellite sequences were mapped in the chromosomes of Cichla monoculus Agassiz, 1831, Pterophyllum scalare Schultze, 1823, and Symphysodon discus Heckel, 1840. Four microsatellites demonstrated positive results in the genome of C. monoculus and S. discus, and five demonstrated positive results in the genome of P. scalare. In most cases, the microsatellite was dispersed in the chromosome with conspicuous markings in the centromeric or telomeric regions, which suggests that sequences contribute to chromosome structure and may have played a role in the evolution of this fish family. The comparative genome mapping data presented here provide novel information on the structure and organization of the repetitive DNA region of the cichlid genome and contribute to a better understanding of this fish family's genome. © Carlos Henrique Schneider et al

Heterochromatin variation and LINE-1 distribution in Artibeus (Chiroptera, Phyllostomidae) from Central Amazon, Brazil

Species in the subgenus Artibeus Leach, 1821 are widely distributed in Brazil. Conserved karyotypes characterize the group with identical diploid number and chromosome morphology. Recent studies suggested that the heterochromatin distribution and accumulation patterns can vary among species. In order to assess whether variation can also occur within species, we have analyzed the chromosomal distribution of constitutive heterochromatin in A. planirostris (Spix, 1823) and A. lituratus (Olfers, 1818) from Central Amazon (North Brazil) and contrasted our findings with those reported for other localities in Brazil. In addition, Ag-NOR staining and FISH with 18S rDNA, telomeric, and LINE-1 probes were performed to assess the potential role that these different repetitive markers had in shaping the current architecture of heterochromatic regions. Both species presented interindividual variation of constitutive heterochromatin. In addition, in A. planirostris the centromeres of most chromosomes are enriched with LINE-1, colocated with pericentromeric heterochromatin blocks. Overall, our data indicate that amplification and differential distribution of the investigated repetitive DNAs might have played a significant role in shaping the chromosome architecture of the subgenus Artibeus. © érica M. Silva de Souza

PAPEL DO FATOR DE NECROSE TUMORAL NA REABILITAÇÃO FÍSICA DO ACIDENTE VASCULAR CEREBRAL: : REVISÃO INTEGRATIVA

Stroke (CVA) is a sudden neurological condition caused by vascular injuries, with significant global impact. In 2022, in Brazil, it resulted in 87,518 deaths. Various types of injuries are typically associated with vascular obstructions, triggering an inflammatory process. Affected individuals often exhibit physical, cognitive, and language deficits, necessitating interdisciplinary rehabilitation approaches. Cytokines, particularly TNF-α, play a role in the inflammatory response, but the exact nature of their influence on recovery and rehabilitation is not yet fully understood. The aim of this review was to correlate the interaction between TNF-α and physical rehabilitation post-stroke, formulating a research question based on the PICO strategy and selecting articles published between 2010 and 2022, in English, Portuguese, and Spanish. The search process involved the analysis of 366 articles by three independent and blinded reviewers, resulting in the inclusion of two articles after successive exclusions. Among these articles, one randomized clinical study investigated the effect of aerobic training on the inflammatory response, while a meta-analysis explored the relationship between inflammation and post-stroke recovery. Both highlighted the importance of physical rehabilitation in modulating inflammatory cytokines in affected patients, although they adopted different approaches, with the purpose of demonstrating the significance of this intervention in regulating cytokines in individuals who have had a stroke. This review aims to deepen the understanding of the relationship between TNF-α and rehabilitation, emphasizing the need for future research with larger samples and more specific methodological designs for a deeper understanding of the role of TNF-α in post-stroke rehabilitationEl accidente cerebrovascular (ACV) es una condición neurológica súbita causada por lesiones vasculares, con un impacto global significativo. En 2022, en Brasil, provocó 87,518 muertes. Varios tipos de lesiones suelen estar asociados a obstrucciones vasculares, desencadenando un proceso inflamatorio. Las personas afectadas a menudo presentan déficits físicos, cognitivos y del lenguaje, lo que requiere enfoques interdisciplinarios de rehabilitación. Las citocinas, en particular el TNF-α, desempeñan un papel en la respuesta inflamatoria, pero la naturaleza exacta de su influencia en la recuperación y rehabilitación aún no se comprende completamente. El objetivo de esta revisión fue correlacionar la interacción entre el TNF-α y la rehabilitación física después de un ACV, formulando una pregunta de investigación basada en la estrategia PICO y seleccionando artículos publicados entre 2010 y 2022, en inglés, portugués y español. El proceso de búsqueda implicó el análisis de 366 artículos por tres revisores independientes y ciegos, lo que resultó en la inclusión de dos artículos después de exclusiones sucesivas. Entre estos artículos, un estudio clínico aleatorio investigó el efecto del entrenamiento aeróbico en la respuesta inflamatoria, mientras que un metaanálisis exploró la relación entre la inflamación y la recuperación después de un ACV. Ambos resaltaron la importancia de la rehabilitación física en la modulación de las citocinas inflamatorias en pacientes afectados, aunque adoptaron enfoques diferentes, con el propósito de demostrar la importancia de esta intervención en la regulación de las citocinas en individuos que han sufrido un ACV. Esta revisión tiene como objetivo profundizar en la comprensión de la relación entre el TNF-α y la rehabilitación, enfatizando la necesidad de investigaciones futuras con muestras más amplias y diseños metodológicos más específicos para una comprensión más profunda del papel del TNF-α en la rehabilitación después de un ACV.O acidente vascular cerebral (AVC) é uma condição neurológica súbita devido a lesões vasculares, com impacto global significativo. Em 2022, no Brasil, causou 87.518 óbitos. Diversos tipos de lesões estão normalmente associados a obstruções vasculares, desencadeando um processo inflamatório. Indivíduos afetados frequentemente apresentam déficits físicos, cognitivos e de linguagem, exigindo abordagens interdisciplinares de reabilitação. Citocinas, em especial o TNF-α, desempenham um papel na resposta inflamatória, mas a natureza exata de sua influência na recuperação e reabilitação ainda não está esclarecida. O objetivo desta revisão foi correlacionar a interação entre o TNF-α e a reabilitação física pós-AVC, formulando uma pergunta de pesquisa com base na estratégia PICO e selecionando artigos publicados entre 2010 e 2022, em inglês, português e espanhol. O processo de pesquisa envolveu a análise de 366 artigos por três revisores independentes e cegados, resultando na inclusão de dois artigos após exclusões sucessivas. Dentre esses artigos, um estudo clínico randomizado investigou o efeito do treinamento aeróbico na resposta inflamatória, enquanto uma metanálise explorou a relação entre inflamação e recuperação pós-AVC. Ambos destacaram a importância da reabilitação física na modulação das citocinas inflamatórias em pacientes acometidos, embora tenham adotado abordagens distintas, com o propósito de evidenciar a importância desta intervenção na regulação das citocinas em indivíduos que sofreram AVC. Esta revisão visa aprofundar a compreensão da relação entre o TNF-α e a reabilitação, enfatizando a necessidade de pesquisas futuras com amostras mais amplas e desenhos metodológicos mais específicos para uma compreensão mais aprofundada do papel do TNF-α na reabilitação pós-AVC

Repetitive sequences: The hidden diversity of heterochromatin in prochilodontid fish

The structure and organization of repetitive elements in fish genomes are still relatively poorly understood, although most of these elements are believed to be located in heterochromatic regions. Repetitive elements are considered essential in evolutionary processes as hotspots for mutations and chromosomal rearrangements, among other functions - thus providing new genomic alternatives and regulatory sites for gene expression. The present study sought to characterize repetitive DNA sequences in the genomes of Semaprochilodus insignis (Jardine & Schomburgk, 1841) and Semaprochilodus taeniurus (Valenciennes, 1817) and identify regions of conserved syntenic blocks in this genome fraction of three species of Prochilodontidae (S. insignis, S. taeniurus, and Prochilodus lineatus (Valenciennes, 1836) by cross-FISH using Cot-1 DNA (renaturation kinetics) probes. We found that the repetitive fractions of the genomes of S. insignis and S. taeniurus have significant amounts of conserved syntenic blocks in hybridization sites, but with low degrees of similarity between them and the genome of P. lineatus, especially in relation to B chromosomes. The cloning and sequencing of the repetitive genomic elements of S. insignis and S. taeniurus using Cot-1 DNA identified 48 fragments that displayed high similarity with repetitive sequences deposited in public DNA databases and classified as microsatellites, transposons, and retrotransposons. The repetitive fractions of the S. insignis and S. taeniurus genomes exhibited high degrees of conserved syntenic blocks in terms of both the structures and locations of hybridization sites, but a low degree of similarity with the syntenic blocks of the P. lineatus genome. Future comparative analyses of other prochilodontidae species will be needed to advance our understanding of the organization and evolution of the genomes in this group of fish. © Maria L. Terencio et al

Managing risk in open source software adoption

By 2016 an estimated 95% of all commercial software packages will include Open Source Software (OSS). This extended adoption is yet not avoiding failure rates in OSS projects to be as high as 50%. Inadequate risk management has been identified among the top mistakes to avoid when implementing OSS-based solutions. Understanding, managing and mitigating OSS adoption risks is therefore crucial to avoid potentially significant adverse impact on the business. In this position paper we portray a short report of work in progress on risk management in OSS adoption processes. We present a risk-aware technical decision-making management platform integrated in a business-oriented decision-making framework, which together support placing technical OSS adoption decisions into organizational, business strategy as well as the broader OSS community context. The platform will be validated against a collection of use cases coming from different types of organizations: big companies, SMEs, public administration, consolidated OSS communities and emergent small OSS products.Postprint (published version