Comparative transcriptomic analysis of circulating endothelial cells in sickle cell stroke.

Ischemic stroke (IS) is one of the most impairing complications of sickle cell anemia (SCA), responsible for 20% of mortality in patients. Rheological alterations, adhesive properties of sickle reticulocytes, leukocyte adhesion, inflammation and endothelial dysfunction are related to the vasculopathy observed prior to ischemic events. The role of the vascular endothelium in this complex cascade of mechanisms is emphasized, as well as in the process of ischemia-induced repair and neovascularization. The aim of the present study was to perform a comparative transcriptomic analysis of endothelial colony-forming cells (ECFCs) from SCA patients with and without IS. Next, to gain further insights of the biological relevance of differentially expressed genes (DEGs), functional enrichment analysis, protein-protein interaction network (PPI) construction and in silico prediction of regulatory factors were performed. Among the 2469 DEGs, genes related to cell proliferation (AKT1, E2F1, CDCA5, EGFL7), migration (AKT1, HRAS), angiogenesis (AKT1, EGFL7) and defense response pathways (HRAS, IRF3, TGFB1), important endothelial cell molecular mechanisms in post ischemia repair were identified. Despite the severity of IS in SCA, widely accepted molecular targets are still lacking, especially related to stroke outcome. The comparative analysis of the gene expression profile of ECFCs from IS patients versus controls seems to indicate that there is a persistent angiogenic process even after a long time this complication has occurred. Thus, this is an original study which may lead to new insights into the molecular basis of SCA stroke and contribute to a better understanding of the role of endothelial cells in stroke recovery.

Realização periódica do Papanicolau: uma contribuição de empoderamento através de oficina / Periodic realization of Papanicolaou: a contribution to the empowerment of women / Realización periódica de Papanicolaou: una contribución al empoderamiento de la mujer

Objetivo: desenvolver uma oficina como forma de contribuição ao empoderamento de mulheres para a realização periódica do Papanicolau. Método: qualitativo, exploratório e descritivo, tipo pesquisa participante, em uma unidade de saúde, com mulheres entre 25 a 59 anos, através de entrevista semiestruturada coletiva, durante uma oficina ocorrida em fevereiro de 2023, analisada por meio da Análise Temática de Conteúdo. Resultados: a oficina mostrou-se como um dispositivo que potencializa o empoderamento feminino, interferindo no processo saúde-doença. Desvelou-se ainda como ferramenta de dialogicidade e escuta ativa, na compreensão dos determinantes que se configuram como empecilhos na realização periódica do Papanicolau. Considerações finais: como forma de romper barreiras, ao tratar-se da periodicidade do Papanicolau, a oficina é uma ferramenta eficiente e incentivadora de promoção à participação ativa, à autonomia, à autoestima e ao empoderamento social por meio do processo educativo

Objective: develop a workshop as a way of contributing to the empowerment of women to carry out regular Pap smears. Method: qualitative, exploratory and descriptive, participant research type, in a health unit, with women between 25 and 59 years old, through collective semi-structured interviews, during a workshop, analyzed through Thematic Content Analysis. Results: the workshop proved to be a device that enhances female empowerment, interfering in the health-disease process. It also revealed itself as a tool for dialogue and active listening, in understanding the determinants that constitute obstacles in the periodic performance of the Pap smear. Final considerations: as a way of breaking down barriers, when it comes to the frequency of the Pap smear, the workshop is an efficient and encouraging tool to promote active participation, autonomy, self- esteem and social empowerment through the educational process

Objetivos: desarrollar un taller como forma de contribuir al empoderamiento de las mujeres para la realización periódica de Papanicolaou. Método: investigación cualitativa, exploratoria y descriptiva, tipo participante, en una unidad de salud, con mujeres entre 25 y 59 años, a través de entrevistas colectivas semiestructuradas, durante un taller, analizadas mediante Análisis de Contenido Temático. Resultados: el taller resultó ser un dispositivo que potencia el empoderamiento femenino, interfiriendo en el proceso salud-enfermedad. También se reveló como una herramienta de diálogo y escucha activa, en la comprensión de los determinantes que constituyen obstáculos en la realización periódica del Papanicolaou. Consideraciones finales: como una forma de romper barreras en cuanto a la frecuencia de la prueba de Papanicolaou, el taller es una herramienta eficiente y alentadora para promover la participación activa, la autonomía, la autoestima y el empoderamiento social a través del proceso educativo

Crianças raras: vivências e desafios maternos / Children with rare diseases: maternal experiences and challenges

Objetivo: Analisar vivências e desafios de mães mediante a revelação do diagnóstico para anomalias congênitas. Métodos: Pesquisa qualitativa, exploratória e descritiva, desenvolvida no município de Dormentes, Estado de Pernambuco, Brasil, em Unidades Básicas de Saúde, através da entrevista semiestruturada, com 8 mães que receberam o diagnóstico para anomalia congênita durante o pré-natal ou pós-nascimento, ocorrida entre 2017 e 2022. Utilizou-se uma amostra não probabilística, por intencionalidade, com fechamento amostral por exaustão. Os dados coletados foram analisados a partir da técnica da análise temática de conteúdo. Resultados: As mães ao vivenciarem o diagnóstico experimentam medo, tristeza e luto. A revelação do diagnóstico implica em adaptações que envolvem toda a família, na qual, os desafios postos, ao receber a notícia, evidenciaram a importância do acolhimento, do esclarecimento do diagnóstico e apontaram para busca de informações e da religiosidade, como dispositivos de fortalecimento. Conclusão: Os achados desvelaram os processos adaptativos das famílias, principalmente das mães, apontando sobretudo para a necessidade de os profissionais, em específico, da enfermagem, repensarem seu papel alicerçado na empatia e na humanização, buscando o empoderamento das famílias para se adaptar ao novo, encorajando-as a vivenciarem o processo. Descritores: Anormalidades Congênitas; Relação Mãe-Filho; Enfermagem.

Objective: To analyze mothers' experiences and challenges when informed about a diagnosis of congenital anomalies.Methods:Qualitative, exploratory and descriptive research, developed at Basic Health Units in the municipality of Dormentes, state of Pernambuco, Brazil, through semi-structured interviews with 8 mothers who were informed about the diagnosis of a congenital anomaly during prenatal care or after birth, from 2017 to 2022. A non-probability and intentional sample was used, with closure due to exhaustion. The data collected were analyzed based on the thematic content analysis technique. Results: When informed about thediagnosis, the mothers experience fear, sadness and grief. Disclosure of the diagnosis implies adaptations that involve the entire family, in which the challenges posed upon receiving the news evidenced the importance of welcoming and of clarifying the diagnosis and pointed to the search for information and religiousness as strengthening devices.Conclusion:The findings revealed the families' adaptive processes, mainly in the mothers, pointing above all to the need for professionals, in particular, from the Nursing area, to rethink their role based on empathy and humanization, seeking to empower families to adapt to the new reality and encouraging them to experience the process. Descriptors: Congenital Abnormalities; Mother-Child Relations; Nursing.

Percepções de mães de crianças com autismo sobre rede apoiadora e estratégias de cuidado consigo / Perceptions of mothers of children withautism about a support network and self-care strategies

Objetivo: Analisar as percepções das mães de crianças com autismo quanto à rede de apoio existente e as estratégias de cuidado para si que poderiam ser oferecidas pelos serviços terapêuticos em sala de espera. Métodos: Estudo qualitativo, exploratório e descritivo, realizado em outubro de 2021, aprovado pelo comitê de ética, parecer 4.767.339. Empregou-se a entrevista semiestruturada com 29 mães de crianças diagnosticadas com Transtorno do Espectro Autista, através da análise temática de conteúdo. Resultados: Perante a necessidade terapêutica dos filhos, cabe às mães toda a logística de acompanhamento da família, em uma representação patriarcal que ainda não rompeu com o romantismo da maternidade. As mães apontam a necessidade de momentos que pudessem proporcionar a realização de atividade física, alongamento, meditação e de cuidados estéticos, pois devido à sobrecarga a qual são submetidas e à carência da rede de apoio a elas ofertadas, os locais terapêuticos poderiam também vir a ser ambientes de autocuidado. Conclusão: Ressalta-se que os serviços precisam reconhecer as marcas do patriarcalismo e, ao mesmo tempo, ofertar acolhimento, escuta e atendimento a outras necessidades que permeiam a maternagem de uma criança com autismo. Descritores: Saúde da mulher; Mães;Transtorno do Espectro Autista; Autocuidado; Salas de espera

Objective:To analyze the perceptions of mothers of children with autism regarding the existing support network and self-care strategies that might be offered by therapeutic services in waiting rooms.Methods:A qualitative, exploratory and descriptive study carried out in October 2021, duly approved by the ethics committee under opinion No.4,767,339. Semi-structured interviews were conducted with 29 mothers of children diagnosed with Autistic Spectrum Disorder, through thematic content analysis. Results:Given the therapeutic needs of their children, it is up to the mothers to take care of all the monitoring logistics of the family, in a patriarchal representation that has not yet broken away from the romanticism of motherhood. The mothers point out the need for moments that may provide physical activity, stretching, meditation and aestheticcare since, due to the overload to which they are subjected and the absence of support network offered to them, therapeutic places might also come to be self-care environments. Conclusion:It is emphasized that the services need to recognize the distinctive signs of patriarchy and, at the same time, offer welcoming, listening and assistance to other needs that permeate the aspects of being the mother of a child with autism.Descriptors:Women's health; Mothers; Autism Spectrum Disorder; Self-care; Waitingrooms.

Comparative transcriptome analysis of endothelial progenitor cells of HbSS patients with and without proliferative retinopathy.

Among sickle cell anemia (SCA) complications, proliferative sickle cell retinopathy (PSCR) is one of the most important, being responsible for visual impairment in 10-20% of affected eyes. The aim of this study was to identify differentially expressed genes (DEGs) present in pathways that may be implicated in the pathophysiology of PSCR from the transcriptome profile analysis of endothelial progenitor cells. RNA-Seq was used to compare gene expression profile of circulating endothelial colony-forming cells (ECFCs) from HbSS patients with and without PSCR. Furthermore, functional enrichment analysis and protein-protein interaction (PPI) networks were performed to gain further insights into biological functions. The differential expression analysis identified 501 DEGs, when comparing the groups with and without PSCR. Furthermore, functional enrichment analysis showed associations of the DEGs in 200 biological processes. Among these, regulation of mitogen-activated protein (MAP) kinase activity, positive regulation of phosphatidylinositol 3-kinase (PI3K), and positive regulation of Signal Transducer and Activator of Transcription (STAT) receptor signaling pathway were observed. These pathways are associated with angiogenesis, cell migration, adhesion, differentiation, and proliferation, important processes involved in PSCR pathophysiology. Moreover, our results showed an over-expression of VEGFC (vascular endothelial growth factor-C) and FLT1 (Fms-Related Receptor Tyrosine Kinase 1) genes, when comparing HbSS patients with and without PSCR. These results may indicate a possible association between VEGFC and FLT1 receptor, which may activate signaling pathways such as PI3K/AKT and MAPK/ERK and contribute to the mechanisms implicated in neovascularization. Thus, our findings contain preliminary results that may guide future studies in the field, since the molecular mechanisms of PSCR are still poorly understood.

Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort.

BACKGROUND: Primary open-angle glaucoma (POAG), the world's main cause of irreversible blindness, is an asymptomatic and neurodegenerative disease of multifactorial etiology with ethnic and geographic disparities. Multiethnic genome-wide association studies (GWAS) identified single nucleotide variants (SNVs) in ATXN2, FOXC1, and TXNRD2 loci as risk factors for POAG pathophysiology and/or endophenotypes. The aim of this case-control study was to investigate the association of the variants rs7137828 (ATXN2), rs2745572 (FOXC1), and rs35934224 (TXNRD2), as risk factors for POAG development, additionally to rs7137828 association with glaucoma clinical parameters in a Brazilian cohort from the Southeast and South regions. METHODS: This investigation comprised 506 cases and 501 controls. Variants rs2745572 and rs35934224 were genotyped through TaqMan® assays and validated by Sanger sequencing. Variant rs7137828 was genotyped exclusively by Sanger sequencing. RESULTS: The primary research outcome revealed that the variant rs7137828 (ATXN2) was associated with an increased risk for the development of POAG in the presence of the TT genotype compared to the CC genotype (p = 0.006; Odds Ratio [OR] = 1.717; Confidence Interval [CI] 95% = 1.169-2.535). There was no significant association of rs2745572 and rs35934224 genotypes with POAG. The CT genotype of the rs7137828 was associated with the vertical cup-to-disk ratio (VCDR) (p = .023) but not with the age at diagnosis or the mean deviation. CONCLUSION: Our data indicate the rs7137828 associated with increased risk for the development of POAG and VCDR in a Brazilian cohort. If validated in additional populations, these findings may enable the development of relevant strategies for early diagnosis of glaucoma in the future.

Avaliação da incidência de uso de antidepressivos em estudantes de medicina do estado de Alagoas / Evaluation of the incidence of antidepressant use among medical students in the state of Alagoas

O presente estudo objetivou determinar a frequência do uso de antidepressivos entre os estudantes de Medicina do Estado de Alagoas, dessa forma, consiste em um estudo prospectivo e transversal, realizado nas instituições de ensino superior do Estado de Alagoas possuidoras da graduação de Medicina. Critérios de inclusão foram estar matriculado e frequentando o curso, cursando do primeiro ao quarto ano e possuir 18 anos ou mais. Já os critérios de exclusão foram ser do quinto ou sexto ano de graduação; possuir idade menor que 18 anos, mesmo que emancipado. Através de questionário autopreenchido (informações sociodemográficas, estilo de vida e inventário de Ansiedade de Beck), foram entrevistados 342 acadêmicos de forma aleatória. Os dados adquiridos foram digitados, tabulados e analisados. Este estudo teve aprovação do Comitê de Ética em Pesquisa. Todos os participantes leram e assinaram o Termo de Consentimento Livre e Esclarecido em conformidade aos critérios da resolução 466/12. Dos entrevistados, 15% recorrem a antidepressivo e 85% não fazem uso desse tipo de fármaco. Mesmo dando uma percentagem baixa, ainda é preocupante e bastante importante abordar sempre esse tema e reformular o ensino médico, de modo a diminuir os níveis de estresse e ansiedade dos estudantes (AU).

This study aimed to determine the frequency of antidepressant use among medical students in the State of Alagoas, thus consisting of a prospective and cross-sectional study carried out in higher education institutions in the State of Alagoas that offer undergraduate medical education. Inclusion criteria were being enrolled and attending the course, from the first to the fourth year, and being 18 years old or older. The exclusion criteria were being in the fifth or sixth year of medical school; being younger than 18 years old, even if emancipated. Through a self-completed questionnaire (sociodemographic information, lifestyle, and Beck's Anxiety Inventory), 342 students were randomly interviewed. The data were typed, tabulated and analyzed. This study was approved by the Research Ethics Committee. All participants who participated read and signed the Informed Consent Form according to the criteria of resolution 466/12. Fifteen percent of the respondents use antidepressants and 85% do not use this type of drug. Even giving a low percentage, it is still worrisome and quite important to always address this issue and reformulate medical education in order to decrease the levels of stress and anxiety among students (AU).

Job satisfaction and work context among rehabilitation care professionals in Alagoas, Brazil: an observational study / Satisfação no trabalho e contexto de trabalho entre profissionais de reabilitação em Alagoas, Brasil: um estudo observacional

ABSTRACT Job satisfaction is multifactorial and is directly related to the quality of health services. The main objective of this study was to characterize the level of job satisfaction and the work context of the multidisciplinary teams in specialized rehabilitation services in the state of Alagoas, Brazil. We evaluated the professional profile of participants and sociodemographic information. The Work Context Assessment Scale (WCAS) which is divided into three dimensions and questions adapted from the satisfaction and remuneration dimensions of the Great Place to Work methodology for the Organizational Climate Survey, was used. We included 190 professionals, the mean age was 35.47±9.25 and 86.3% were women. Most participants worked in the capital (60%) and 84.7% had a monthly wage ranging from R$1,000 to R$3,000. The dimension of "work organization" was crucial. The items "pace of work," "strong demand," "performance monitoring," and "repetitive tasks" presented the worst results, but 92.7% are satisfied with their professional activities. The logistic regression analysis showed that more years since graduation and lower scores of Work conditions and Socio-professional relationships were associated with higher job satisfaction. Job satisfaction was found to be high, the dimension of work organization was crucial, and almost half of the participants have already thought about leaving their careers.

RESUMEN La satisfacción laboral es multifactorial y está directamente relacionada con la calidad de los servicios de salud. El objetivo principal de este estudio fue identificar el nivel de satisfacción y el contexto de trabajo de equipos multidisciplinarios en servicios especializados de rehabilitación en el estado de Alagoas, Brasil. Se evaluó el perfil profesional y el perfil sociodemográfico, y se aplicaron la Escala de Evaluación del Contexto de Trabajo (EACT), dividida en tres dimensiones, y preguntas adaptadas de las dimensiones de satisfacción y remuneración de la metodología de encuesta de clima organizacional, Great Place to Work. Se incluyeron a 190 profesionales, de los cuales el 86,3% eran mujeres, y la edad media fue de 35,47±9,25 años. La mayoría trabajaba en la capital (60%) y el 84,7% ganaba entre R$1.000 y R$3.000. La dimensión "organización del trabajo" fue crítica. Los ítems "ritmo de trabajo", "exigencia de resultados", "control del rendimiento" y "tareas repetitivas" obtuvieron los peores resultados, pero el 92,7% de los participantes estaban satisfechos con su actividad profesional. La regresión logística mostró que a más años de formación y puntuaciones más bajas en las dimensiones "condiciones de trabajo" y "relación socioprofesional" se asociaban a una mayor satisfacción laboral. La satisfacción laboral fue alta, la dimensión "organización del trabajo" crítica, y casi la mitad de los participantes había pensado en dejar su carrera.

RESUMO A satisfação no trabalho é multifatorial e está diretamente relacionada com a qualidade dos serviços de saúde. O objetivo principal deste estudo foi caracterizar o nível de satisfação e o contexto de trabalho de equipes multidisciplinares de serviços especializados em reabilitação no estado de Alagoas, Brasil. Foi avaliado o perfil profissional e sociodemográfico e foram aplicadas a escala de avaliação do contexto de trabalho (EACT), que é dividida em três dimensões, e questões adaptadas das dimensões de satisfação e remuneração da metodologia Great Place to Work da pesquisa de clima organizacional. Incluímos 190 profissionais, sendo 86,3% do sexo feminino, e a idade média foi de 35,47±9,25 anos. A maioria trabalhava na capital (60%) e 84,7% recebiam mensalmente de R$ 1.000,00 a R$ 3.000,00. A dimensão organização do trabalho foi considerada crítica. Os itens ritmo de trabalho, cobrança por resultados, fiscalização do desempenho e tarefas repetitivas tiveram os piores resultados, mas 92,7% dos participantes estavam satisfeitos com suas atividades profissionais. A regressão logística mostrou que mais anos de formado e menores pontuações nas dimensões condições de trabalho e relações socioprofissionais estão associados com maior satisfação no trabalho. A satisfação no trabalho foi alta, a dimensão organização do trabalho crítica, e quase metade dos participantes já pensaram em deixar sua carreira.

Fatores relacionados ao sucesso na amamentação / Factors related to successful breastfeeding / Factores relacionados con la lactancia exitosa

Objetivo: Analisar os fatores que se associam ao sucesso na amamentação, de acordo com a literatura. Método: Revisão sistemática de literatura, cadastrado na base de registro de protocolos. As bases usadas foram Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde, Cumulative Index to Nursing and Allied Helth Literature, Embase e PubMed. Os critérios de elegibilidade foram: estudos de ensaio clínico randomizado e que avaliaram fatores relacionados ao sucesso da amamentação. Resultados: Foram identificados 92 artigos. Após retirada de duplicatas, análise de títulos e critérios de inclusão/exclusão pelos pares, obteve-se nove estudos. As principais características associadas ao sucesso na amamentação foram: confiança no leite humano, percepção de produção insuficiente de leite e/ou ralo. Em relação ao apoio do conjugue, influencia diretamente na duração da amamentação exclusiva. Sobre o apoio profissional, o encorajamento durante o prénatal e a educação após o parto ofertado pelos profissionais teve impacto significativo sobre a amamentação. Em relação ao bem-estar materno, a depressão perinatal pode estar associada à interrupção precoce da amamentação exclusiva. Conclusão: Ao fim, a revisão trouxe elementos importantes para o sucesso na amamentação. As mulheres, profissionais de saúde e rede de apoio têm importância nesse processo

Objective: To analyze the factors that are associated with success in breastfeeding, according to the literature. Method: Systematic literature review, registered in the protocols registry base (PROSPERO). The databases used were the Latin American and Caribbean Center for Health Sciences Information (BIREME), Cumulative Index to Nursing and Allied Health Literature (CINAHL), Embase and PubMed. Eligibility criteria were: randomized clinical trial studies that evaluated factors related to successful breastfeeding. Results: 92 articles were identified. After removal of duplicates, analysis of titles and inclusion/exclusion criteria by peers, nine studies were obtained. The main characteristics associated with successful breastfeeding were: confidence in human milk, perception of insufficient and/or thin milk production. Regarding the support of the spouse, it directly influences the duration of exclusive breastfeeding. Regarding professional support, encouragement during prenatal care and postpartum education offered by professionals had a significant impact on breastfeeding. Regarding maternal well-being, perinatal depression may be associated with early cessation of exclusive breastfeeding. Conclusion: In the end, the review brought important elements for successful breastfeeding. Women, health professionals and the support network are important in this process

Objetivo: Analizar los factores que se asocian al éxito en la lactancia materna, según la literatura. Método: Revisión sistemática de la literatura, registrada en la base de registro de protocolos (PROSPERO). Las bases de datos utilizadas fueron el Centro Latinoamericano y del Caribe de Información en Ciencias de la Salud (BIREME), Cumulative Index to Nursing and Allied Health Literature (CINAHL), Embase y PubMed. Los criterios de elegibilidad fueron: estudios de ensayos clínicos aleatorizados que evaluaron factores relacionados con una lactancia materna exitosa. Resultados: se identificaron 92 artículos. Después de la eliminación de duplicados, análisis de títulos y criterios de inclusión/exclusión por pares, se obtuvieron nueve estudios. Las principales características asociadas a la lactancia materna exitosa fueron: confianza en la leche humana, percepción de producción de leche insuficiente y/o escasa. En cuanto al apoyo del cónyuge, influye directamente en la duración de la lactancia materna exclusiva. En cuanto al apoyo profesional, el estímulo durante la atención prenatal y la educación posparto ofrecida por los profesionales tuvo un impacto significativo en la lactancia materna. En cuanto al bienestar materno, la depresión perinatal puede estar asociada con el cese temprano de la lactancia materna exclusiva. Conclusión: Al final, la revisión trajo elementos importantes para una lactancia exitosa. Las mujeres, los profesionales de la salud y la red de apoyo son importantes en este proceso

Sua esmola também mata: uma análise discursiva das reações a campanhas contra esmolas no Instagram / Your handout also kills: a discursive analysis of reactions to campaigns against handouts on Instagram

Este estudo se propõe a refletir a respeito da repercussão de campanhas contrárias à doação de esmolas a pessoas em situação de rua, que vêm se tornando frequentes em algumas cidades brasileiras. Nosso objetivo é identificar quais as principais teses defendidas pelos segmentos responsáveis por essas campanhas e pelas pessoas que as apoiam. Para isso, vamos tomar como corpus alguns cartazes que foram publicados no Instagram do Padre Júlio Lancellotti e os comentários de internautas a favor das campanhas, publicados no mesmo Instagram. Para a descrição e análise dos dados recorremos aos pressupostos da Teoria Semiolinguística do Discurso, o que nos permitiu, a partir da descrição dos principais procedimentos associados aos modos de organização enunciativo, descritivo, narrativo e argumentativo, propostos por Charaudeau (2008)1, identificar os imaginários representados nos discursos em questão. A partir das análises, constatamos que os discursos contrários às esmolas se fundamentam em valores de ordem ética e pragmática pautados na tese de que as doações são diretamente responsáveis pela manutenção das pessoas na rua e por todos os prejuízos que isso pode causar.

Relação entre o tempo de espera e o impacto no cotidiano de pacientes submetidos à artroplastia total de joelho / Relationship between waiting time and the impact on the daily life of patients submitted to total knee arthroplasty

Objetivo: avaliar a relação entre a qualidade de vida e o tempo de espera para a realização de artroplastia total do joelho (ATJ) em pacientes usuários do sistema público de saúde. Método: estudo observacional, retrospectivo, do tipo corte transversal, entre janeiro a junho de 2021. Foram incluídos no estudo os pacientes com idade igual ou superior a 50 anos que adentraram em fila de espera para tratamento cirúrgico por artroplastia total do joelho, desde setembro de 2018, em um hospital público terciário. Os dados foram coletados por meio de questionário desenvolvido e validado pelo próprio serviço de psicologia da instituição e processados por meio de estatística descritiva e inferencial. Resultados: trinta pacientes participaram da pesquisa, com idade de 67 ± 6,63 anos, 70% do sexo feminino com renda mensal média de R$1.558,00. Quanto ao tempo de espera pela ATJ, 56,67% dos pacientes esperaram até 90 dias; 16,67% entre 90 e 180 dias e 26,67% esperaram mais de 180 dias. Foi demonstrada melhora significativa entre as condições clínicas pré e pós ATJ, como mobilidade, edema, rigidez matinal e dor. A redução da dor foi preditora significativamente mais associada com a satisfação com o procedimento. Análise de regressão verificou que os piores resultados foram encontrados nos pacientes que esperaram por mais de 90 dias pela ATJ. Conclusão: o tempo de espera causa um impacto significativo no cotidiano dos pacientes submetidos à ATJ. Quanto maior o tempo de espera, piores são os resultados funcionais, a satisfação e a qualidade de vida desses pacientes.

Objective: to evaluate the relationship between quality of life and waiting time for total knee arthroplasty (TKA) in patients using the public health system. Method: an observational, retrospective, cross-sectional study from January to June 2021. Patients aged 50 years or older who joined the waiting list for surgical treatment for total knee arthroplasty in September 2018 in a tertiary public hospital were included in the study. Data were collected using a questionnaire developed and validated by the institution's own psychology service and processed using descriptive and inferential statistics. Results: thirty patients participated in the research, aged 67 ± 6.63 years, 70% female, and with a mean monthly income of R$1,558.00. Regarding the waiting time for TKA, 56.67% of patients waited up to 90 days; 16.67% between 90 and 180 days, and 26.67% waited more than 180 days. Significant improvement was demonstrated between pre-and post-TKA clinical conditions, such as mobility, edema, morning stiffness, and pain. Pain reduction was significantly more predictor associated with satisfaction with the procedure. Regression analysis found that the worst outcomes were found in patients who waited longer than 90 days for TKA. Conclusion: waiting time has a significant impact on the daily lives of patients undergoing TKR. The longer the waiting time, the worse are the functional results, satisfaction, and quality of life of these patients.

Educação permanente na pandemia de COVID-19: técnicos de enfermagem estatutários como educadores / Continued professional development in the COVID-19 pandemic: statutory nursing technicians as educators / Educación permanente en la pandemia de COVID-19: los técnicos de enfermería estatutarios como educadores

Objetivo: analisar a prática do profissional técnico de enfermagem como educador em uma dimensão técnico-operacional de educação permanente voltado para a doença causada pelo coronavírus do tipo 2 (COVID-19). Método: estudo com abordagem qualitativa, realizado com técnicos de enfermagem de uma unidade de terapia intensiva, após aprovação pelo Comitê de Ética em Pesquisa. Resultados: Foram entrevistados 20 profissionais, sem ocorrência de recusa por parte dos profissionais estatutários, sendo 83% deles do sexo feminino, com média de idade de 41 anos e, em média, 17 anos de atuação na enfermagem, que precisaram, nesse período crítico, adequarem-se à função de educadores. Conclusão: evidenciou-se que os técnicos de enfermagem tiveram que ressignificar suas práticas em virtude das necessidades específicas inerentes à pandemia. As atividades de treinamento e capacitação profissional tendem a ser conduzidas por enfermeiros e, consequentemente, os técnicos de enfermagem como público-alvo dessas atividades não são tratados como membros integrantes do serviço de educação permanente.

Objective: to examine the practice of professional nursing technicians as educators in a technical-operational dimension of continued professional development focused on the disease caused by type-2 coronavirus (COVID-19). Method: this qualitative study was conducted with nursing technicians at an intensive care unit, after approval by the research ethics committee. Results: 20 nursing technicians were interviewed (with no refusal from statutory personnel), 83% of them female, mean age 41 years and averaging 17 years' experience in Nursing, who had to adapt, in this critical period, to the function of educators. Conclusion: the nursing technicians were found to have to reframe their practice to the specific needs inherent to the pandemic. Professional training and qualification activities tend to be conducted by nurses and, consequently, nursing technicians, as the target public for these activities, are not treated as integral members of the continued professional development service.

Objetivo: analizar la práctica de profesionales técnicos de enfermería como educadores en una dimensión técnico-operativa de educación permanente con foco en la enfermedad provocada por el coronavirus tipo 2 (COVID-19). Método: estudio con enfoque cualitativo, realizado con técnicos de enfermería de una unidad de cuidados intensivos, previa aprobación del Comité de Ética en Investigación. Resultados: se entrevistaron 20 profesionales, sin negativa por parte de los estatutarios, siendo 83% del sexo femenino, con media de edad de 41 años y, en promedio, 17 años de experiencia en enfermería, que necesitaban, en este período crítico, adaptarse a la función de educadores. Conclusión: fue evidente que los técnicos de enfermería tuvieron que replantear sus prácticas debido a las necesidades específicas inherentes a la pandemia. Las actividades de capacitación y calificación profesional tienden a ser realizadas por enfermeros y, en consecuencia, los técnicos de enfermería como público objetivo de estas actividades no son tratados como miembros integrantes del servicio de educación permanente.

Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses.

OBJECTIVE: The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical findings, analyze the prevalence of VUS, report the rare variants found and additionally highlight the clinical importance of microarray-based comparative genomic hybridization (aCGH) in prenatal diagnosis. STUDY DESIGN: We retrospectively analyzed a cohort of 772 fetuses with indication for genetic study in two tertiary hospitals, in a 9-years-period, using aCGH. RESULTS: Our results demonstrated 8.3 % (6.4-10.5 %, 95 % CI) detection rate of pathogenic CNVs. Within this group, the main indication was structural malformations (57 %) mainly involving central nervous system, skeletal and cardiac systems. Pathogenic results in cases with multiple malformations were higher than in cases with isolated anatomical system malformations showing statistical significant differences (p < 0.001). The second indication where we found more pathogenic CNVs was increased nuchal translucency (5-6.4 mm). In fact, the rate of pathogenic CNVs did not show significant differences between structural and non-structural malformations (p > 0.001), highlighting the relevance of genetic study by aCGH also in cases with no structural malformations. A total of 217 fetuses with CNVs classified as VUS were identified, mainly involving chromosomes X, 1 and 16. CONCLUSION: Our findings demonstrate 4.9 % (4.2-5.6 %, 95 % CI) increased in the diagnostic yield using aCGH compared to the use of conventional karyotype alone, confirming that the aCGH can improve the accuracy of prenatal diagnosis. Our survey provides a full genotype-phenotype analysis that can be clinically useful for the classification of variants in the context of prenatal setting, helping to provide a better reproductive genetic counselling.

Epigenetic analysis in placentas from sickle cell disease patients reveals a hypermethylation profile.

Pregnancy in Sickle Cell Disease (SCD) women is associated to increased risk of clinical and obstetrical complications. Placentas from SCD pregnancies can present increased abnormal findings, which may lead to placental insufficiency, favoring adverse perinatal outcome. These placental abnormalities are well known and reported, however little is known about the molecular mechanisms, such as epigenetics. Thus, our aim was to evaluate the DNA methylation profile in placentas from women with SCD (HbSS and HbSC genotypes), compared to uncomplicated controls (HbAA). We included in this study 11 pregnant women with HbSS, 11 with HbSC and 21 with HbAA genotypes. Illumina Methylation EPIC BeadChip was used to assess the whole placental DNA methylation. Pyrosequencing was used for array data validation and qRT-PCR was applied for gene expression analysis. Our results showed high frequency of hypermethylated CpGs sites in HbSS and HbSC groups with 73.5% and 76.2% respectively, when compared with the control group. Differentially methylated regions (DMRs) also showed an increased hypermethylation status for the HbSS (89%) and HbSC (86%) groups, when compared with the control group methylation data. DMRs were selected for methylation validation (4 DMRs-HbSS and 3 DMRs the HbSC groups) and after analyses three were validated in the HbSS group, and none in the HbSC group. The gene expression analysis showed differential expression for the PTGFR (-2.97-fold) and GPR56 (3.0-fold) genes in the HbSS group, and for the SPOCK1 (-2.40-fold) and ADCY4 (1.80-fold) genes in the HbSC group. Taken together, these data strongly suggest that SCD (HbSS and HbSC genotypes) can alter placental DNA methylation and lead to gene expression changes. These changes possibly contribute to abnormal placental development and could impact in the clinical course, especially for the fetus, possibly leading to increased risk of abortion, fetal growth restriction (FGR), stillbirth, small for gestational age newborns and prematurity.

Epidemiological profile and temporal trend of exogenous intoxications in children and adolescents.

OBJECTIVE: To describe the epidemiological profile and to analyze the trend in the incidence rate of exogenous poisoning concerning children and adolescents (0-19 years old) in the city of Arapiraca, Alagoas, Brazil, in the period from 2007 to 2015. METHODS: Observational study with data extracted from the Notifiable Diseases Information System. The variables sex, age group, toxic agent, and circumstance were analyzed using descriptive statistics. For temporal analysis, cut-off rates of incidence/10,000 inhabitants were calculated and the inflection point regression model was used for analysis. RESULTS: There were 5,539 cases of exogenous intoxication in individuals aged 0-19 years in the city, of which 53.1% (n=2,944) occurred in girls and 61.5% (n=3,405) in children aged 0-9 years. Medicines consisted in the main agent responsible for intoxications (28.5%; n=1,580), mainly by accidental use (18.2%; n=1,010). There was a significant increase in the events during the study period (Average Annual Percent Change: 12.7; 95%CI 1.1-25.6; p<0.001), with rates increasing from 56.52/10,000 inhabitants in 2007 to 56.64/10,000 inhabitants in 2015. The incidence of cases in girls increased from 57.34/10,000 inhabitants in 2007 to 62.27/10,000 inhabitants in 2015. In boys, the incidence of cases was stationary: 55.69/10,000 inhabitants to 50.9 /10,000 inhabitants in the same period. CONCLUSIONS: The study showed a higher frequency of cases in girls aged 0 to 4 years and an increasing trend in the incidence rate during the study period. Implementation of actions and strategies, with emphasis on health education, is needed in order to prevent cases of exogenous intoxication.

Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients.

PURPOSE: To analyze the correlations between age-related macular degeneration (AMD) and genetic and environmental risk factors for in a Brazilian population. DESIGN: Cross-sectional study with a control group. METHODS: We collected data on 236 participants 50 years of age or older (141 with AMD and 95 controls without the disease). Data was obtained using a questionnaire and included information on demographics, ocular and medical history, family history of AMD, lifestyle, and smoking and drinking habits. Genetic evaluations included direct sequencing for the LOC387715 (rs10490924) variant, as well as PCR and enzymatic digestion for the CFH Y402H (rs1061170) and HTRA1 (rs11200638) variants. We performed a risk assessment of environmental risk factors and genetic variants associated with AMD and determined correlations between AMD and the data collected using multiple linear regression analysis. RESULTS: Of the 141 AMD cases, 99 (70%) had advanced AMD in at least one eye (57% neovascular AMD and 13% geographic atrophy), and 42 (30%) had not-advanced AMD. Family history of AMD (OR: 6.58; 95% CI: 1.94-22.31), presence of cardiovascular disease (CVD) (OR: 2.39; 95% CI: 1.08-5.28), low physical activity level (OR: 1.39; 95% CI: 0.82-2.37), and high serum cholesterol (OR: 1.49; 95% CI: 0.84-2.65) were associated with an increased risk for AMD. There was a significant association between CVD and incidence of advanced AMD (OR: 2.29; 95% CI 0.81-6.44). The OR for the risk allele of the LOC387715 gene, the CFH gene and the HTRA1 gene were 2.21 (95% CI: 1.47-3.35), 2.27 (95% CI: 1.52-3.37), and 2.76 (95% CI: 1.89-4.03), respectively. In the stepwise multiple linear regression analyses, the HTRA1 and CFH risk alleles, family history of AMD, the LOC387715 risk allele, and CVD were associated with an increased risk of AMD for a total of 25.6% contribution to the AMD phenotype. CONCLUSIONS: The analysis correlating environmental and genetic risk factors such as family history of AMD, and CVD and the variants of HTRA1, CFH, and LOC387715 genes showed an expressive contribution for the development of AMD among this admixed population.

Demographic history differences between Hispanics and Brazilians imprint haplotype features.

Admixture is known to greatly impact the genetic landscape of a population and, while genetic variation underlying human phenotypes has been shown to differ among populations, studies on admixed subjects are still scarce. Latin American populations are the result of complex demographic history, such as 2 or 3-way admixing events, bottlenecks and/or expansions, and adaptive events unique to the American continent. To explore the impact of these events on the genetic structure of Latino populations, we evaluated the following haplotype features: linkage disequilibrium, shared identity by descent segments, runs of homozygosity, and extended haplotype homozygosity (integrated haplotype score) in Latinos represented in the 1000 Genome Project along with array data from 171 Brazilians sampled in the South and Southeast regions of Brazil. We found that linkage disequilibrium decay relates to the amount of American and African ancestry. The extent of identity by descent sharing positively correlates with historical effective population sizes, which we found to be steady or growing, except for Puerto Ricans and Colombians. Long runs of homozygosity, a particular instance of autozygosity, was only enriched in Peruvians and Native Americans. We used simulations to account for random sampling and linkage disequilibrium to filter positive selection indexes and found 244 unique markers under selection, 26 of which are common to 2 or more populations. Some markers exhibiting positive selection signals had estimated time to the most recent common ancestor consistent with human adaptation to the American continent. In conclusion, Latino populations present highly divergent haplotype characteristics that impact genetic architecture and underlie complex phenotypes.

Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population.

Purpose: Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years, there have been advances in knowledge about the genetics involved in POAG, but genetic studies in admixed populations, such as Brazilians, are still rare. This study aimed to evaluate the association of single nucleotide variants (SNV) of the ABCA1 (rs2472493) and GAS7 (rs9913911) genes with POAG in a sample of the Brazilian population. Furthermore, the study aimed to evaluate the relationship between these SNVs and the need for surgical intervention in glaucoma control. Methods: A cross-sectional association study with 1,009 subjects (505 patients with POAG and 504 controls) was performed. Participants underwent a comprehensive ocular examination, including the need for surgical procedures for intraocular pressure control. Genotyping of SNVs was performed using the TaqMan genotyping assay. Results: SNV rs9913911 of GAS7 was found to be associated with POAG in the presence of the risk allele A (p = 0.0004) and the AA genotype (p = 0.002). There was no association between SNV rs2472493 of ABCA1 for either the allele risk or genotypes. However, the combination of these variants showed an additive effect on the risk for POAG: ABCA1(GG) + GAS7(AA; p = 0.02), ABCA1(GG) + GAS7(AG; p = 0.003), and ABCA1(AG) + GAS7(AG; p = 0.004). Also, POAG patients carrying the AA genotype of the GAS7 gene required antiglaucomatous surgery more frequently than those without the AA genotype (p = 0.01). Conclusions: In a Brazilian population sample, there was an association identified between SNV rs9913911 (GAS7) and the risk of POAG, and an additive effect was found when GAS7 was combined with SNV rs2472493 (ABCA1). There was an association between SNV rs9913911 (GAS7) and the risk for antiglaucomatous surgery.

Transcriptomics and network analysis highlight potential pathways in the pathogenesis of pterygium.

Pterygium is a common ocular surface condition frequently associated with irritative symptoms. The precise identity of its critical triggers as well as the hierarchical relationship between all the elements involved in the pathogenesis of this disease are not yet elucidated. Meta-analysis of gene expression studies represents a novel strategy capable of identifying key pathogenic mediators and therapeutic targets in complex diseases. Samples from nine patients were collected during surgery after photo documentation and clinical characterization of pterygia. Gene expression experiments were performed using Human Clariom D Assay gene chip. Differential gene expression analysis between active and atrophic pterygia was performed using limma package after adjusting variables by age. In addition, a meta-analysis was performed including recent gene expression studies available at the Gene Expression Omnibus public repository. Two databases including samples from adults with pterygium and controls fulfilled our inclusion criteria. Meta-analysis was performed using the Rank Production algorithm of the RankProd package. Gene set analysis was performed using ClueGO and the transcription factor regulatory network prediction was performed using appropriate bioinformatics tools. Finally, miRNA-mRNA regulatory network was reconstructed using up-regulated genes identified in the gene set analysis from the meta-analysis and their interacting miRNAs from the Brazilian cohort expression data. The meta-analysis identified 154 up-regulated and 58 down-regulated genes. A gene set analysis with the top up-regulated genes evidenced an overrepresentation of pathways associated with remodeling of extracellular matrix. Other pathways represented in the network included formation of cornified envelopes and unsaturated fatty acid metabolic processes. The miRNA-mRNA target prediction network, also reconstructed based on the set of up-regulated genes presented in the gene ontology and biological pathways network, showed that 17 target genes were negatively correlated with their interacting miRNAs from the Brazilian cohort expression data. Once again, the main identified cluster involved extracellular matrix remodeling mechanisms, while the second cluster involved formation of cornified envelope, establishment of skin barrier and unsaturated fatty acid metabolic process. Differential expression comparing active pterygium with atrophic pterygium using data generated from the Brazilian cohort identified differentially expressed genes between the two forms of presentation of this condition. Our results reveal differentially expressed genes not only in pterygium, but also in active pterygium when compared to the atrophic ones. New insights in relation to pterygium's pathophysiology are suggested.

Epidemiological and clinical profile and trend analysis of hospitalizations for fall-related injuries among older adults, Alagoas (Brazil), 2008­2019 / Perfil epidemiológico e clínico e tendência temporal de internações por quedas em idosos, Alagoas (Brasil), 2008­2019

Objective: To analyze the epidemiological and clinical profile and the time trend of hospitalizations for fall-related injuries among older people (aged 60 years or older) in Alagoas between 2008 and 2019. Methods: This is a time series study with data collected from the Hospital Information System of the Unified National Health System (SIHSUS) referring to hospitalizations for fallrelated injuries among older adults in Alagoas (Brazil) between 2008 and 2019. Hospitalization and lethality rates, average annual percent change (AAPC), and annual percent change (APC) were calculated; time trends were analyzed using a Joinpoint Regression Model according to sex, skin color, age range, and causes. A 95% confidence interval (95%CI) was adopted. A p-value<0.01 was adopted for defining statistical significance. Results: In Alagoas, 14 817 cases of hospitalizations due to fall-related injuries were reported among older people in the analyzed period. The highest incidence rate was observed in 2016 (48.39/10 000 inhabitants). There were 517 deaths, and the mean lethality rate was 3.4%. A higher proportion of cases was seen in men (66.36%; n=9832), those aged 80 years or older(34.59%; n=5125), and with Brown skin (54.70%; n=8106). The incidence coefficient varied, showing an upward trend with time (APC: 4.1; 95%CI 0.2­8.2; p<0.01). Conclusion: The study showed a higher incidence in individuals aged 80 years or older, men, and found an upward trend in hospitalizations. We suggest the'

Objetivo: Analisar o perfil epidemiológico e clínico e a tendência temporal das internações por quedas em idosos de 60 anos ou mais, ocorridas em Alagoas, no período de 2008­2019. Metodologia: Realizou-se um estudo de séries temporais com dados coletados no Sistema de Informações Hospitalares do Sistema Único de Saúde, referentes a internações por quedas em idosos de 60 anos ou mais em Alagoas (Brasil), entre 2008 e 2019. Foram calculadas as taxas de incidência de internação e letalidade, a variação percentual anual média (AAPC) e a variação anual percentual (APC). A tendência foi analisada pelo modelo de regressão por pontos de inflexão (joinpoint regression model) segundo sexo, cor, faixa etária e categoria de causas. Adotou-se intervalo de confiança de 95% (IC95%) e, para análise do nível de significância estatística, valor de p < 0,01. Resultados: Foram notificados 14.817 casos de internações por quedas em idosos de 60 anos ou mais no período analisado, em Alagoas. A maior taxa de incidência ocorreu em 2016 (48,39/10 mil habitantes). Ocorreram 517 óbitos, e a taxa média de letalidade foi de 3,4%. Verificou-se maior proporção de casos no sexo masculino (66,36%; n = 9.832), na faixa etária de 80 anos (34,59%; n = 5.125) e na cor parda (54,70%; n = 8.106). Houve variação do coeficiente de incidência, o qual apresentou comportamento temporal crescente (APC: 4,1; IC95% de 0,2 a 8,2; p < 0,01). Conclusão: O estudo mostrou maior incidência na faixa etária de 80 anos ou mais no período analisado, maior frequência no sexo masculino e tendência crescente de internações. Sugere-se otimizar a assistência hospitalar e incentivar programas de prevenção de quedas em idosos.