Résumé
O assentimento infantil é uma exigência ética em pesquisas com crianças, porém sua comunicação eficaz tem sido um desafio. Neste relato, descrevemos a construção teórica e metodológica de um termo de assentimento infantil em formato de história em quadrinhos. A experiência foi realizada em uma escola municipal de Teresina, Piauí, com 32 crianças entre oito e dez anos. As etapas consistiram no estudo das questões éticas envolvidas, na construção da arte sequencial, na observação participante, em ajustes na história em quadrinhos e na aplicação e assinatura do termo de assentimento. A experiência resultou em um termo com legibilidade de Flesch de 91,81 sobre as questões éticas na pesquisa com crianças. O assentimento infantil em formato de história em quadrinhos apresentou linguagem acessível, lúdica e legibilidade adequada para comunicar pesquisa com crianças.
Child assent is an ethical requirement in research with children, however effective communication has been a challenge. In this report we describe the theoretical and methodological construction of a child assent term in comic book format. The experience was carried out in a municipal school of Teresina-Piaui with 32 children between eight and ten years old. The steps consisted of the study of ethical issues, the construction of sequential art, in participant observation, in adjustments to the comic strip and in the application and signature of the assent term. The experience resulted in a term with Flesch readability of 91.81 on ethical issues in research with kids. The childish nod in comic book format presented accessible, playful language and adequate legibility to communicate research with children.
El asentimiento infantil es una exigencia ética en investigaciones con niños. Sin embargo, la comunicación eficaz ha sido un desafío. En este relato describimos la construcción teórica y metodológica de un término de asentimiento infantil en formato de cómics. La experiencia ha sido realizada en una escuela municipal de Teresina, Piauí, con 32 niños entre ocho y diez años. Las etapas consistieron en el estudio de las cuestiones éticas, en la construcción del arte secuencial, en la observación participante, en ajustes en los cómics y en la aplicación y firma del término de asentimiento. La experiencia resultó en un término con legibilidad de Flesch de 91,81 sobre las cuestiones éticas en la investigación con niños. El asentimiento infantil en formato de cómics presentó lenguaje accesible, lúdica y legibilidad adecuada para comunicar investigación con niños.
Sujets)
Protection de l'enfance , Éthique de la recherche , Développement Technologique et Recherche Scientifique , Communication sur la santé , Magazines de bandes dessinées , LégislationRésumé
The outer membrane composed predominantly of lipopolysaccharide (LPS) is an essential biological barrier for most Gram-negative (G-) bacteria. Lipopolysaccharide transport protein (Lpt) complex LptDE is responsible for the critical final stage of LPS transport and outer membrane assembly. The structure and function of LptDE are highly conserved in most G- bacteria but absent in mammalian cells, and thus LptDE complex is regarded as an attractive antibacterial target. In recent 10 years, the deciphering of the three-dimensional structure of LptDE protein facilities the drug discovery based on such "non-enzyme" proteins. Murepavadin, a peptidomimetic compound, was reported to be the first compound able to target LptD, enlightening a new class of antibacterial molecules with novel mechanisms of action. This article is devoted to summarize the molecular characteristics, structure-function of LptDE protein complex and review the development of murepavadin and related peptidomimetic compounds, in order to provide references for relevant researches.
Résumé
Aim To prepare tripterygium glycoside nanoparticles and probe into their therapeutic effect on collagen-induced arthritis ( CIA) rats. Methods Tripterygium glycosides polyglycoside nanoparticles were prepared by thin film dispersion method and their quality was assessed. The CIA model was established and drug intervention performed. The body weight, toe swelling degree and arthritis index were measured. The pathological changes of the organs, knee and ankle synovium were observed. The serum levels of kidney function and inflammatory cytokine expression were detected in rats. Results The prepared tripterygium wil-fordii polyglycoside nanoparticles were round particles with uniform distribution and stable properties under electron microscope. Compared with the model group, the swelling of the left and right toes of medication group significantly decreased (P < 0. 01), and the ar-thritis index markedly decreased ( P < 0. 01). Among them, the efficacy of the TG-NPs group was better than that of the TG group. Compared with the normal group, the indexes of heart, spleen, kidney and testis all significantly decreased (P <0. 05, P<0.01). TG-NPs group had a significantly reduced pathological ankle-joint injury in knee cartilage and increased apoptotic synovial cells. Compared with the model group, the serum levels of ALT and BUN and CRE in TG-NPs group were significantly lower (P < 0. 05 ), and IL-1β, TNF-α and IL-6 levels decreased significantly (P <0. 05). Conclusions TG-NPs have good therapeutic effect on CIA through induction of synovial cell apoptosis and decrease of the expression of inflammatory cytokines. By intravenous injection of blood circula-tion, slow and controlled release of drugs can be achieved, the first pass effect caused by oral drug can be avoided, the viscera toxicity can be reduced, which provides an experimental basis for the development of new nanoagents for the treatment of rheumatoid arthritis.
Résumé
As the search for effective treatments for COVID-19 continues, the high mortality rate among critically ill patients in Intensive Care Units (ICU) presents a profound challenge. This study explores the potential benefits of traditional Chinese medicine (TCM) as a supplementary treatment for severe COVID-19. A total of 110 critically ill COVID-19 patients at the Intensive Care Unit (ICU) of Vulcan Hill Hospital between Feb., 2020, and April, 2020 (Wuhan, China) participated in this observational study. All patients received standard supportive care protocols, with a subset of 81 also receiving TCM as an adjunct treatment. Clinical characteristics during the treatment period and the clinical outcome of each patient were closely monitored and analysed. Our findings indicated that the TCM group exhibited a significantly lower mortality rate compared with the non-TCM group (16 of 81 vs 24 of 29; 0.3 vs 2.3 person/month). In the adjusted Cox proportional hazards models, TCM treatment was associated with improved survival odds (P < 0.001). Furthermore, the analysis also revealed that TCM treatment could partially mitigate inflammatory responses, as evidenced by the reduced levels of proinflammatory cytokines, and contribute to the recovery of multiple organic functions, thereby potentially increasing the survival rate of critically ill COVID-19 patients.
Sujets)
Humains , COVID-19 , Médecine traditionnelle chinoise , SARS-CoV-2 , Maladie grave , Résultat thérapeutiqueRésumé
@#Vaccines with novel adjuvants have been listed abroad,while in China,except for aluminum adjuvants widely used in vaccine research and production,few other novel adjuvants have been successfully listed. This paper briefly summarized the source,development history,research progress on biological activity and immune mechanism as well as safety evaluation of the novel BC adjuvant system with independent intellectual property right which has been applied to the vaccine in clinical research stage,so as to provide theoretical support for selection of the adjuvant in the development of novel vaccine.
Résumé
ABSTRACT Objectives: to report an educational technology construction on nursing professionals' rights. Methods: an experience report on educational technology construction during the crediting of university extension hours in an undergraduate nursing course at a Brazilian public university, between March and June 2023. The Deming cycle was used as a procedural method. Results: four meetings were held between students and extension workers. Eight comic books were produced based on the Code of Ethics for Nurses, addressing professional autonomy, fair remuneration, risk-free work, denial of exposure in the media and others. The Deming cycle proved to be an important strategy for constructing products. Conclusions: nursing professionals' rights must be discussed and improved. Educational technologies, such as comic books, provide playful and reflective learning.
RESUMEN Objetivos: informar la construcción de una tecnología educativa sobre los derechos de los profesionales de enfermería. Métodos: relato de experiencia sobre la construcción de tecnología educativa durante la acreditación de horas de extensión universitaria en una carrera de pregrado en enfermería en una universidad pública brasileña, entre marzo y junio de 2023. Se utilizó el ciclo de Deming como método procesal. Resultados: se realizaron cuatro reuniones entre estudiantes y extensionistas. Se produjeron ocho historietas basadas en el Código de Ética para los Profesionales de Enfermería, abordando la autonomía profesional, la remuneración justa, el trabajo libre de riesgos, la negación de la exposición en los medios de comunicación y otros. El ciclo de Deming demostró ser una estrategia importante para la construcción de productos. Conclusiones: los derechos de los profesionales de enfermería deben ser discutidos y mejorados. Las tecnologías educativas, como los cómics, proporcionan un aprendizaje lúdico y reflexivo.
RESUMO Objetivos: relatar a construção de uma tecnologia educacional sobre os direitos dos profissionais de enfermagem. Métodos: relato de experiência sobre a construção de tecnologia educacional durante a creditação de horas de extensão universitária em uma disciplina da graduação em enfermagem de uma universidade pública brasileira, entre março e junho de 2023. Utilizou-se o ciclo de Deming como método processual. Resultados: foram realizados quatro encontros entre estudantes e extensionistas. Oito histórias em quadrinhos foram produzidas pautadas no Código de Ética dos Profissionais de Enfermagem abordando autonomia profissional, remuneração justa, trabalho sem riscos, negação à exposição em mídias e outros. O ciclo de Deming mostrou-se importante estratégia para construção dos produtos. Conclusões: os direitos dos profissionais de enfermagem devem ser discutidos e aprimorados. Tecnologias educacionais, como histórias em quadrinhos, proporcionam aprendizagem lúdica e reflexiva.
Résumé
Purpose: To explore the vitreous humor proteome from type 2 diabetes subjects with proliferative diabetic retinopathy (PDR) in the Indian population. Methods: We performed mass spectrometry?based label?free quantitative analysis of vitreous proteome of PDR (n = 13) and idiopathic macular hole (IMH; control) subjects (n = 14). Nine samples of PDR and 10 samples of IMH were pooled as case and control, respectively, and compared. Four samples each of PDR and IMH were analyzed individually without pooling to validate the results of the pooled analysis. Comparative quantification was performed using Scaffold software which calculated the fold changes of differential expression. Bioinformatics analysis was performed using DAVID and STRING software. Results: We identified 469 proteins in PDR and 517 proteins in IMH vitreous, with an overlap of 172 proteins. Also, 297 unique proteins were identified in PDR and 345 in IMH. In PDR vitreous, 37 proteins were upregulated (P < 0.05) and 19 proteins were downregulated compared to IMH. Protein distribution analysis clearly demonstrated a separation of protein expression in PDR and IMH. Significantly upregulated proteins included fibrinogen gamma chain, fibrinogen beta chain, and carbonic anhydrase 1 and downregulated proteins included alpha?1?antitrypsin, retinol?binding protein 3, neuroserpin, cystatin C, carboxypeptidase E and cathepsin?D. Conclusion: Diabetic retinopathy pathogenesis involves proteins which belong to inflammation, visual transduction, and extracellular matrix pathways. Validation?based experiments using enzyme?linked immunosorbent assay (ELISA) or western blotting are needed to establish cause and effect relationships of these proteins to the disease state, to develop them as biomarkers or drug molecules
Résumé
Though technological advancements have transcended beyond expectation, phacoemulsification remains a challenge in uncooperative patients, where the procedure may be contemplated under general anesthesia, with simultaneous bilateral cataract surgery (SBCS) being the surgery of choice. In this manuscript, we have reported a novel two-surgeon technique of SBCS on a 50-year-old mentally subnormal patient. Under general anesthesia, two surgeons performed phacoemulsification simultaneously, using two separate microscopes, irrigation lines, phaco machines, instruments, and assistants. Intraocular lens (IOL) implantation was performed in both eyes (OU). The patient had a visual recovery from 5/60, N36 in OU preoperatively to 6/12, N10 in OU on post-operative day 3 and 1 month, with no complications. This technique can potentially reduce the risk of endophthalmitis, repeated and prolonged anesthesia, and the number of hospital visits. To the best of our knowledge, this two-surgeon technique of SBCS has never been reported in the literature.
Résumé
Resumen Antecedentes: El diagnóstico de apendicitis aguda representa un reto en pacientes pediátricos. Objetivo: Establecer la importancia del índice neutrófilos-linfocitos (INL), índice plaquetas-linfocitos (IPL) y otros parámetros hematológicos ajustados por edad y sexo en la predicción de apendicitis aguda, así como describir un nuevo sistema de calificación. Material y métodos: Se analizaron retrospectivamente expedientes clínicos de 946 niños hospitalizados por apendicitis aguda. Se desarrolló un sistema de calificación basado en INL, IPL, ILM y proteína C reactiva (PCR) ajustados por edad y sexo. Resultados: Los pacientes se dividieron en grupo I de exploración negativa y grupo II de apendicitis aguda; las medias de edad correspondientes fueron 12.20 ± 2.31 y 11.56 ± 3.11. El recuento leucocitario, porcentaje de neutrófilos, INL, IPL, ILM y PCR fueron superiores en el grupo II. La calificación osciló entre 0 y 8 puntos; se determinó que 4.5 fue el mejor punto de corte para apendicitis aguda con mayor área bajo la curva (0.96), sensibilidad (94 %), especificidad (86 %), valor predictivo positivo (97.5 %), valor predictivo negativo (65 %), precisión (92.6 %) y tasa de clasificación errónea (7.4 %). Conclusión: El sistema de calificación que se propone, calculado por edad y sexo de los pacientes, se puede utilizar para evitar cirugías innecesarias.
Abstract Background: Acute appendicitis diagnosis can sometimes be a real challenge in pediatric patients. Objective: To establish the importance of neutrophil/lymphocyte ratio (NLR), platelet/lymphocyte ratio (PLR), and other hematological parameters adjusted for age and sex in the prediction of acute appendicitis, as well as to describe a new scoring system. Material and methods: Medical records of 946 children hospitalized for acute appendicitis were retrospectively analyzed. A scoring system based on NLR, PLR, lymphocyte/monocyte ratio (LMR), and C-reactive protein (CRP) adjusted for age and sex was developed. Results: Patients were divided into group I, with negative examination, and group II, with acute appendicitis; mean ages were 12.20 ± 2.31 and 11.56 ± 3.11, respectively. Leukocyte count, neutrophil percentage, NLR, PLR, LMR and PCR were higher in group II. The scores ranged from 0 to 8 points; 4.5 was determined to be the best cut-off point for acute appendicitis with the highest area under the curve (0.96), sensitivity (94%), specificity (86%), positive predictive value (97.5%), negative predictive value (65%), accuracy (92.6%) and misclassification rate (7.4%). Conclusion: The proposed scoring system, calculated based on patient age and gender, can be used for unnecessary surgeries to be avoided.
Résumé
Objective: Describe the epidemiology of COVID-19 deaths within a hospital in the Amazon region in a period of 64 days, which corresponds to the growth curve of the COVID-19 first-wave pandemic in 2020. Methods: The data were obtained from medical records of 152 deaths registered for adults and elderly hospitalized. The data were also compared with the number of deaths in previous years during the same period studied to assess the impact of the pandemic on this hospital. The study also assesses the impact of intra-hospital transfers, accounting for the number of times patients who died performed transfers between sectors of the hospital. Results: During the period analyzed, there was an increase in deaths compared to the previous years. The majority of dead patients were male, aged between 34 and 96 years. The deaths were associated comorbidities such as arterial hypertension, diabetes mellitus, and kidney disease. The SARS-CoV-2 infection was confirmed in 91 cases. Among them, 15 individuals were admitted without conditions related to SARS-CoV-2 infection; they had a three-fold higher number of hospital transfers than those admitted with SARS-CoV-2 infection symptoms. Sixteen patients with SARS-CoV-2 infection developed respiratory symptoms just after hospitalization. The diagnostic exam for SARS-CoV-2 infection was performed on average 4 (± 6) days after the onset of symptoms and 6 (± 6) days after admission, and the average time from the onset of respiratory symptoms to death was 4 (± 6) days. Conclusions: These data suggest the high presence of hospital infection by SARS-CoV-2 in the Brazilian Amazon region, which may be related to the number of sectorial transfers, delay in confirming the diagnosis, and lack of management. We report a serious public health problem, as it demonstrates the fragility of healthcare institutions in the hospital environmen (AU).
Objetivo: Descrever a epidemiologia de mortes por COVID-19 em um hospital na região da Amazônia em um período de 64 dias, que corresponde à curva de crescimento da primeira onda da pandemia de COVID-19 em 2020. Métodos: Os dados foram obtidos de 152 óbitos registrados em prontuários de adultos e idosos hospitalizados. Os dados foram também comparados com o número de óbitos em anos anteriores, no mesmo período estudado, de forma a avaliar o impacto da pandemia neste hospital. O estudo também avalia o impacto das transferências intra-hospitalares, contabilizando o número de vezes que os pacientes que faleceram realizaram transferências entre setores do hospital. Resultados: No período analisado, houve aumento de óbitos em relação aos anos anteriores. A maioria dos pacientes mortos era do sexo masculino, com idade entre 34 e 96 anos. Os óbitos foram associados a comorbidades como hipertensão arterial, diabetes mellitus e doença renal. A infecção por SARS-CoV-2 foi confirmada em 91 casos. Entre eles, 15 indivíduos foram internados sem condições relacionadas à infecção por SARS-CoV-2; eles tiveram um número três vezes maior de transferências hospitalares do que aqueles admitidos com sintomas de infecção por SARS-CoV-2. Dezesseis pacientes com infecção por SARS-CoV-2 desenvolveram sintomas respiratórios logo após a hospitalização. O exame diagnóstico para infecção por SARS-CoV-2 foi realizado em média 4 (± 6) dias após o início dos sintomas e 6 (± 6) dias após a admissão, e o tempo médio do início dos sintomas respiratórios até o óbito foi de 4 ( ± 6) dias. Conclusões: Esses dados sugerem alta presença de infecção hospitalar por SARS-CoV-2 na região amazônica brasileira, o que pode estar relacionado ao número de transferências setoriais, demora na confirmação do diagnóstico e falta de manejo. Relatamos um grave problema de saúde pública, pois demonstra a fragilidade das instituições de saúde no ambiente hospitalar (AU).
Sujets)
Humains , Mâle , Femelle , Adulte , Adulte d'âge moyen , Sujet âgé , Sujet âgé de 80 ans ou plus , Infection croisée , Écosystème Amazonien , COVID-19/épidémiologieRésumé
Resumo Traços da presença do esporte são encontrados em cidades brasileiras desde a segunda metade do século XIX e muitas de suas histórias já foram narradas a partir de diversas fontes. Nesta pesquisa, tomamos o romance urbano brasileiro das décadas de 1920 e 1930 como fonte, dado que neste período a literatura abriu espaço para temas presentes no cotidiano urbano, entre eles, o esporte. Nosso objetivo, então, foi mapear e analisar, em dezessete romances urbanos brasileiros publicados nos decênios de 1920 e 1930, práticas e representações do esporte moderno como parte constitutiva da trama narrativa. Em nossa análise, o esporte foi recorrente em quinze dos dezessete romances e foi possível testemunhar a multiplicidade de sentidos no fenômeno esportivo e comprovar a nossa hipótese de que o esporte, em sua incipiência ou exuberância, poderia ter seus traços captados no romance do período.
Abstract Traces of the sport's presence can be found in Brazilian cities since the second half of the 19th century and many of its stories have already been narrated from various sources. In this research, we take the Brazilian urban novel of the 1920s and 1930s as a source, given that in this period literature opened space for themes present in urban daily life, among them, sport. Our objective, then, was to map and analyze, in 17 Brazilian urban novels published in the 1920s and 1930s, practices and representations of modern sport as a constitutive part of the narrative plot. In our analysis, sport was recurrent in 15 of the 17 novels and witnessed the multiplicity of meanings in the sporting phenomenon and proved our hypothesis that sport, in its infancy or exuberance, could have its traits captured in the novel of the period.
Resumen Las huellas de la presencia del deporte se pueden encontrar en las ciudades brasileñas desde la segunda mitad del siglo XIX, y muchas de sus historias ya han sido narradas desde diversas fuentes. En esta investigación, tomamos como fuente la novela urbana brasileña de las décadas de 1920 y 1930, dado que en este período la literatura abrió espacio para temas presentes en la cotidianidad urbana, entre ellos el deporte. Nuestro objetivo, entonces, fue mapear y analizar prácticas y representaciones del deporte moderno como parte constitutiva de la trama narrativa en 17 novelas urbanas brasileñas publicadas en las décadas de 1920 y 1930, prácticas y representaciones del deporte moderno como parte constitutiva de la trama narrativa. En nuestro análisis, el deporte fue recurrente en 15 de las 17 novelas, lo cual demostró la multiplicidad de significados en el fenómeno deportivo y confirmó nuestra hipótesis de que el deporte, en su infancia o exuberancia, podría tener sus rasgos plasmados en la novela de la época.
Résumé
ABSTRACT Objectives: to construct and validate an educational technology in comic book format about the human papillomavirus vaccine aimed at adolescents. Methods: a methodological study, with a quantitative approach, through the agreement method. It was carried out in two phases: educational technology construction and content validity. Participants are expert judges in the health field. Data collection took place in a virtual environment, through a questionnaire. Data analysis was performed by calculating the Content Validity Index. A Content Validity Index of at least 80% was accepted. Results: the comic book's overall Content Validity Index was 82%, reaching the minimum limit established to be validated. Conclusions: comics are fundamental in the teaching-learning process, aiming to catch adolescents' attention. Therefore, it is characterized as a valid tool to inform, in a playful manner, about the human papillomavirus vaccine.
RESUMEN Objetivos: construir y validar una tecnología educativa en formato cómic sobre la vacuna contra el virus del papiloma humano dirigida a adolescentes. Métodos: estudio metodológico, con enfoque cuantitativo, mediante el método de concordancia. Se realizó en dos fases: construcción de tecnología educativa y validación de contenidos. Los participantes son jueces expertos en el campo de la salud. La recolección de datos se realizó en un ambiente virtual, a través de un cuestionario. El análisis de los datos se realizó mediante el cálculo del Índice de Validez de Contenido. Se aceptó un Índice de Validez de Contenido de al menos el 80%. Resultados: el Índice de Validez de Contenido general del cómic fue del 82%, alcanzando el límite mínimo establecido para ser validado. Conclusiones: las historietas son fundamentales en el proceso de enseñanza-aprendizaje, teniendo como objetivo cautivar la atención de los adolescentes. Por ello, se caracteriza como una herramienta válida para informar, de forma lúdica, sobre la vacuna contra el virus del papiloma humano.
RESUMO Objetivos: construir e validar uma tecnologia educacional em formato de história em quadrinhos sobre a vacina contra o papilomavírus humano voltada para adolescentes. Métodos: estudo metodológico, com abordagem quantitativa, através do método de concordância. Realizado em duas fases: construção de tecnologia educacional e validação de conteúdo. Os participantes são juízes especialistas da área da saúde. A coleta de dados ocorreu em ambiente virtual, através de questionário. A análise de dados foi realizada através do cálculo do Índice de Validade de Conteúdo. Foi aceito um Índice de Validade de Conteúdo de no mínimo 80%. Resultados: o Índice de Validade de Conteúdo global da história em quadrinhos foi de 82%, alcançando limite mínimo estabelecido para ser validado. Conclusões: a história em quadrinhos é fundamental no processo ensino-aprendizagem, visando cativar a atenção de adolescentes. Portanto, caracteriza-se como uma ferramenta válida para informar, de maneira lúdica, sobre a vacina contra o papilomavírus humano.
Résumé
O artigo é fruto de uma pesquisa mais ampla e tem como objetivo principal compreender algumas características da solidão no seio da violência conjugal, a partir de casos narrados em romances da literatura contemporânea. Trata-se de perceber as experiências de humilhação e desamparo das vítimas, em diferentes contextos sociais e não apenas entre casais heterossexuais. A metodologia empregada é a análise comparativa e qualitativa dos romances selecionados, focalizando principalmente duas grandes experiências emocionais, bastante frequentes nas narrativas: primeiramente o medo, que muitas vezes leva ao isolamento e à dificuldade de falar sobre o que se passa e de romper a relação; e, em segundo lugar, a esperança de que tudo pode mudar, ou de que a violência é apenas acidental e não irá se repetir.
The article is the result of broader research, and its main objective is to understand some characteristics of loneliness in the midst of marital violence based on cases narrated in novels of contemporary literature. It is about perceiving the experiences of humiliation and helplessness of the victims in different social contexts and not just among heterosexual couples. The methodology employed is the comparative and qualitative analysis of the selected novels, focusing mainly on two great emotional experiences, quite frequent in the narratives: firstly, fear, which often leads to isolation and the difficulty of talking about what is happening and breaking the relationship; and, secondly, the hope that everything can change, or that the violence is just accidental and will not be repeated.
L'article est le résultat d'une recherche plus large et son objectif principal est de comprendre certaines caractéristiques de la solitude au milieu de la violence conjugale, à partir de cas racontés dans des romans de la littérature contemporaine. Il s'agit de percevoir les expériences d'humiliation et d'impuissance des victimes, dans différents contextes sociaux et pas seulement parmi les couples hétérosexuels. La méthodologie employée est l'analyse comparative et qualitative des romans sélectionnés, en se concentrant principalement sur deux grandes expériences émotionnelles, assez fréquentes dans les récits: premièrement, la peur, qui conduit souvent à l'isolement et à la difficulté à parler de ce qui se passe et à rompre la relation; et, deuxièmement, l'espoir que tout peut changer, ou que la violence est juste accidentelle et ne se reproduira pas.
El artículo es resultado de una investigación más amplia y tiene como principal objetivo comprender algunas características de la soledad en medio de la violencia conyugal, a partir de casos narrados en novelas de la literatura contemporánea. Se trata de percibir las experiencias de humillación e impotencia de las víctimas, en diferentes contextos sociales y no sólo entre parejas heterosexuales. La metodología empleada es el análisis comparativo y cualitativo de las novelas seleccionadas, centrándose principalmente en dos grandes experiencias emocionales, bastante frecuentes en las narraciones: en primer lugar, el miedo, que conduce muchas veces al aislamiento y a la dificultad para hablar de lo que sucede y para romper la relación; y, en segundo lugar, la esperanza de que todo pueda cambiar, o que la violencia sea accidental y no se repita.
Résumé
OBJECTIVE To study the correlation of novel organic cation transporter 2 （OCTN2） with the chemosensitivity of prostate cancer cells to oxaliplatin. METHODS Tumor samples of patients receiving radical prostatectomy were collected， and OCTN2 protein was detected with immunohistochemistry； the primary cells of the specimen were cultivated to obtain prostate cancer cell line. Inductively coupled plasma mass spectrometry was used to detect the uptake of low concentration （0.1 μmol/L） of oxaliplatin by cancer cells. Real-time PCR and Western blot were used to detect the mRNA and protein expressions of OCTN2 in cancer cells； the prostate cancer cells with the highest and lowest expression of OCTN2 protein were selected， and IC50 of oxaliplatin to prostate cancer cells was analyzed by ATP-TCA method. The inhibitory rate of plasma peak concentration of oxaliplatin （50 μmol/L） to prostate cancer cells was detected by MTT assay. Spearman method was used to analyze the relationship of the uptake of oxaliplatin by prostate cancer cells with inhibitory rate of oxaliplatin to prostate cancer cells and 505916443@qq.com mRNA expressions of OCTN2. RESULTS OCTN2 was located on the membrane of cancer cells， and the uptake of zjdtztougao@163.com oxaliplatin by cancer cells was 0.283±0.264 （n＝12）mRNA and protein expression of OCTN2 varied significantly among different cancer cells. The sensitivity of cancer cells with high expression of OCTN2 to oxaliplatin （IC50 of 4.61 μmol/L） was higher than that of cancer cells with lower expression of OCTN2 （IC50 of 26.23 μmol/L）. The inhibitory rate of oxaliplatin to cancer cells was （25.4±10.8）% （n＝12）. There was a correlation between the uptake of oxaliplatin by prostate cancer cells and the inhibition rate of oxaliplatin to prostate cancer cells and mRNA expression of OCTN2 （P＜0.05）. CONCLUSIONS High-expressed OCTN2 may promote the uptake of oxaliplatin by prostate cancer cells， and its expression can serve as a reference for predicting the sensitivity of prostate cancer cells to oxaliplatin chemotherapy.
Résumé
A patient with SARS-CoV-2 infection was adimitted to Shanghai Shibei hospital of Jing'an District in early 2023. According to the patient's complaits， clinical manifestations， physical symptoms， laboratory examination， radiological image results， plus lumbar puncture， the patient was diagnosed with novel coronavirus encephalitis. The patient was discharged from the hospital after a combined treatment of Chinese and western medicine.
Résumé
ObjectiveTo reveal the molecular pathogenesis of Hunter syndrome in three families in southern China and to clarify the correlation between phenotype and genotype， so as to lay a foundation for future prenatal or preimplantation genetic diagnosis. MethodsOn the basis of initial clinical diagnosis and pedigree analysis， qualitative detection of glycosaminoglycans in urine was performed first， and then anticoagulant blood samples were collected from the children and their relatives. DNA was extracted and the IDS gene sequence was analyzed by PCR and Sanger sequencing. Various methods such as RT-PCR and bioinformatics analysis were used to identify the pathogenicity of the new variants. ResultsThe urine test results of the patients in the three families were all strongly positive（++）. Probands were all male， with hemizygous mutations in IDS gene from their mothers， and the mutation sites were c.615_622delCATACAGT， c.847_848delGT and IVS7 ds+1 G>A， respectively. The cross-species conservation analysis showed that the amino acid of IDS gene mutation site was highly conserved during species evolution. Compared with the normal protein， mutant proteins exhibited significant differences in the predicted results of advanced structure. The variants identified in the three families were classified as pathogenic by ACMG criteria. ConclusionsThe three probands were diagnosed with Hunter syndrome. The c.615_622del（p.Il206Valfs*18）， c.847_848del（p.Val283Alafs*57） and IVS7 ds+1 G>A （p.G336Dfs*12） of IDS gene are all novel pathogenic mutations， which are the underlying causes of morbidity in children. This study has further enriched the mutation spectrum of IDS gene.
Résumé
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic mutations in the ASPM gene to understand etiology and molecular mechanism of primary microcephaly. Blood samples were collected from various families across different remote areas of Pakistan from February 2017 to May 2019 who were identified to be affected with primary microcephaly. DNA extraction was performed using the salting-out method; the quality and quantity of DNA were evaluated using spectrophotometry and 1% agarose gel electrophoresis, respectively in University of the Punjab. Mutation analysis was performed by whole exome sequencing from the Cologne Center for Genomics, University of Cologne. Sanger sequencing was done in University of the Punjab to confirm the pathogenic nature of mutation. A novel 4-bp deletion mutation c.3877_3880delGAGA was detected in exon 17 of the ASPM gene in two primary microcephaly affected families (A and B), which resulted in a frame shift mutation in the gene followed by truncated protein synthesis (p.Glu1293Lysfs*10), as well as the loss of the calmodulin-binding IQ domain and the Armadillo-like domain in the ASPM protein. Using the in-silico tools Mutation Taster, PROVEAN, and PolyPhen, the pathogenic effect of this novel mutation was tested; it was predicted to be "disease causing", with high pathogenicity scores. One previously reported mutation in exon 24 (c.9730C>T) of the ASPM gene resulting in protein truncation (p.Arg3244*) was also observed in family C. Mutations in the ASPM gene are the most common cause of MCPH in most cases. Therefore, enrolling additional affected families from remote areas of Pakistan would help in identifying or mapping novel mutations in the ASPM gene of primary microcephaly.
Microcefalia primária autossômica recessiva (MCPH) é um distúrbio do neurodesenvolvimento caracterizado por uma redução congênita do perímetro cefálico (-3 a -5 DP) e deficiência intelectual não progressiva. O objetivo do estudo foi avaliar mutações patogênicas no gene ASPM a fim de compreender a etiologia e o mecanismo molecular da microcefalia primária. Amostras de sangue foram coletadas de várias famílias em diferentes áreas remotas do Paquistão de fevereiro de 2017 a maio de 2019, que foram identificadas como afetadas com microcefalia primária. A extração do DNA foi realizada pelo método salting-out; a qualidade e a quantidade de DNA foram avaliadas por espectrofotometria e eletroforese em gel de agarose a 1%, respectivamente, na Universidade de Punjab. A análise de mutação foi realizada por sequenciamento completo do exoma do Cologne Center for Genomics, University of Cologne. O sequenciamento de Sanger foi feito na Universidade do Punjab para confirmar a natureza patogênica da mutação. Uma nova mutação de deleção de 4 bp c.3877_3880delGAGA foi detectada no exon 17 do gene ASPM em duas famílias afetadas por microcefalia primária (A e B), que resultou em uma mutação de frame shift no gene seguida por síntese de proteína truncada (pGlu1293Lysfs * 10), bem como a perda do domínio IQ de ligação à calmodulina e o domínio do tipo Armadillo na proteína ASPM. Usando as ferramentas in-silico Mutation Taster, PROVEAN e PolyPhen, o efeito patogênico dessa nova mutação foi testado; foi previsto ser "causador de doenças", com altos escores de patogenicidade. Uma mutação relatada anteriormente no exon 24 (c.9730C > T) do gene ASPM, resultando em truncamento de proteína (p.Arg3244 *) também foi observada na família C. Mutações no gene ASPM são a causa mais comum de MCPH na maioria dos casos . Portanto, a inscrição de famílias afetadas adicionais de áreas remotas do Paquistão ajudaria a identificar ou mapear novas mutações no gene ASPM da microcefalia primária.
Sujets)
Humains , Microcéphalie/étiologie , Microcéphalie/génétique , Microcéphalie/sang ,Résumé
Novel coronavirus (nCoV) namely "SARS-CoV-2" is being found responsible for current PANDEMIC commenced from Wuhan (China) since December 2019 and has been described with epidemiological linkage to China in about 221 countries and territories until now. In this study we have characterized the genetic lineage of SARS-CoV-2 and report the recombination within the genus and subgenus of coronaviruses. Phylogenetic relationship of thirty nine coronaviruses belonging to its four genera and five subgenera was analyzed by using the Neighbor-joining method using MEGA 6.0. Phylogenetic trees of full length genome, various proteins (spike, envelope, membrane and nucleocapsid) nucleotide sequences were constructed separately. Putative recombination was probed via RDP4. Our analysis describes that the "SARS-CoV-2" although shows great similarity to Bat-SARS-CoVs sequences through whole genome (giving sequence similarity 89%), exhibits conflicting grouping with the Bat-SARS-like coronavirus sequences (MG772933 and MG772934). Furthermore, seven recombination events were observed in SARS-CoV-2 (NC_045512) by RDP4. But not a single recombination event fulfills the high level of certainty. Recombination mostly housed in spike protein genes than rest of the genome indicating breakpoint cluster arises beyond the 95% and 99% breakpoint density intervals. Genetic similarity levels observed among "SARS-CoV-2" and Bat-SARS-CoVs advocated that the latter did not exhibit the specific variant that cause outbreak in humans, proposing a suggestion that "SARS-CoV-2" has originated possibly from bats. These genomic features and their probable association with virus characteristics along with virulence in humans require further consideration.
O novo coronavírus (nCoV), nomeadamente "SARS-CoV-2", foi considerado responsável pela pandemia atual iniciada em Wuhan (China) desde dezembro de 2019 e foi descrito com ligação epidemiológica à China em cerca de 221 países e territórios até agora. Neste estudo, caracterizamos a linhagem genética do SARS-CoV-2 e relatamos a recombinação dentro do gênero e subgênero dos coronavírus. A relação filogenética de 39 coronavírus pertencentes a seus quatro gêneros e cinco subgêneros foi analisada usando o método de Neighbour-joining usando MEGA 6.0. Árvores filogenéticas do genoma de comprimento total, várias proteínas (espícula, envelope, membrana e nucleocapsídeo), sequências de nucleotídeos foram construídas separadamente. A recombinação putativa foi testada via RDP4. Nossa análise descreve que o "SARS-CoV-2", embora mostre grande semelhança com as sequências de Bat-SARS-CoVs em todo o genoma (dando semelhança de sequência de 89%), exibe agrupamento conflitante com as sequências de coronavírus do tipo Bat-SARS (MG772933 e MG772934) Além disso, sete eventos de recombinação foram observados em SARS-CoV-2 (NC045512) por RDP4. Mas nem um único evento de recombinação preenche o alto nível de certeza. A recombinação está alojada mais em genes de proteína de pico, principalmente, do que no resto do genoma, indicando que o cluster de ponto de interrupção surge além dos intervalos de densidade de ponto de interrupção de 95% e 99%. Os níveis de similaridade genética observados entre "SARS-CoV-2" e Bat-SARS-CoVs defendem que o último não exibe a variante específica que causa surto em humanos, sugerindo que "SARS-CoV-2" tenha se originado possivelmente de morcegos. Essas características genômicas e sua provável associação com as características do vírus, juntamente com a virulência em humanos, requerem uma consideração mais aprofundada.
Sujets)
Phylogenèse , Virus du SRAS/génétiqueRésumé
Abstract Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 SD) and non-progressive intellectual disability. The objective of the study was to evaluate pathogenic mutations in the ASPM gene to understand etiology and molecular mechanism of primary microcephaly. Blood samples were collected from various families across different remote areas of Pakistan from February 2017 to May 2019 who were identified to be affected with primary microcephaly. DNA extraction was performed using the salting-out method; the quality and quantity of DNA were evaluated using spectrophotometry and 1% agarose gel electrophoresis, respectively in University of the Punjab. Mutation analysis was performed by whole exome sequencing from the Cologne Center for Genomics, University of Cologne. Sanger sequencing was done in University of the Punjab to confirm the pathogenic nature of mutation. A novel 4-bp deletion mutation c.3877_3880delGAGA was detected in exon 17 of the ASPM gene in two primary microcephaly affected families (A and B), which resulted in a frame shift mutation in the gene followed by truncated protein synthesis (p.Glu1293Lysfs*10), as well as the loss of the calmodulin-binding IQ domain and the Armadillo-like domain in the ASPM protein. Using the in-silico tools Mutation Taster, PROVEAN, and PolyPhen, the pathogenic effect of this novel mutation was tested; it was predicted to be disease causing, with high pathogenicity scores. One previously reported mutation in exon 24 (c.9730C>T) of the ASPM gene resulting in protein truncation (p.Arg3244*) was also observed in family C. Mutations in the ASPM gene are the most common cause of MCPH in most cases. Therefore, enrolling additional affected families from remote areas of Pakistan would help in identifying or mapping novel mutations in the ASPM gene of primary microcephaly.
Resumo Microcefalia primária autossômica recessiva (MCPH) é um distúrbio do neurodesenvolvimento caracterizado por uma redução congênita do perímetro cefálico (-3 a -5 DP) e deficiência intelectual não progressiva. O objetivo do estudo foi avaliar mutações patogênicas no gene ASPM a fim de compreender a etiologia e o mecanismo molecular da microcefalia primária. Amostras de sangue foram coletadas de várias famílias em diferentes áreas remotas do Paquistão de fevereiro de 2017 a maio de 2019, que foram identificadas como afetadas com microcefalia primária. A extração do DNA foi realizada pelo método salting-out; a qualidade e a quantidade de DNA foram avaliadas por espectrofotometria e eletroforese em gel de agarose a 1%, respectivamente, na Universidade de Punjab. A análise de mutação foi realizada por sequenciamento completo do exoma do Cologne Center for Genomics, University of Cologne. O sequenciamento de Sanger foi feito na Universidade do Punjab para confirmar a natureza patogênica da mutação. Uma nova mutação de deleção de 4 bp c.3877_3880delGAGA foi detectada no exon 17 do gene ASPM em duas famílias afetadas por microcefalia primária (A e B), que resultou em uma mutação de frame shift no gene seguida por síntese de proteína truncada (pGlu1293Lysfs * 10), bem como a perda do domínio IQ de ligação à calmodulina e o domínio do tipo Armadillo na proteína ASPM. Usando as ferramentas in-silico Mutation Taster, PROVEAN e PolyPhen, o efeito patogênico dessa nova mutação foi testado; foi previsto ser causador de doenças, com altos escores de patogenicidade. Uma mutação relatada anteriormente no exon 24 (c.9730C > T) do gene ASPM, resultando em truncamento de proteína (p.Arg3244 *) também foi observada na família C. Mutações no gene ASPM são a causa mais comum de MCPH na maioria dos casos . Portanto, a inscrição de famílias afetadas adicionais de áreas remotas do Paquistão ajudaria a identificar ou mapear novas mutações no gene ASPM da microcefalia primária.
Résumé
Abstract Novel coronavirus (nCoV) namely SARS-CoV-2 is being found responsible for current PANDEMIC commenced from Wuhan (China) since December 2019 and has been described with epidemiological linkage to China in about 221 countries and territories until now. In this study we have characterized the genetic lineage of SARS-CoV-2 and report the recombination within the genus and subgenus of coronaviruses. Phylogenetic relationship of thirty nine coronaviruses belonging to its four genera and five subgenera was analyzed by using the Neighbor-joining method using MEGA 6.0. Phylogenetic trees of full length genome, various proteins (spike, envelope, membrane and nucleocapsid) nucleotide sequences were constructed separately. Putative recombination was probed via RDP4. Our analysis describes that the SARS-CoV-2 although shows great similarity to Bat-SARS-CoVs sequences through whole genome (giving sequence similarity 89%), exhibits conflicting grouping with the Bat-SARS-like coronavirus sequences (MG772933 and MG772934). Furthermore, seven recombination events were observed in SARS-CoV-2 (NC_045512) by RDP4. But not a single recombination event fulfills the high level of certainty. Recombination mostly housed in spike protein genes than rest of the genome indicating breakpoint cluster arises beyond the 95% and 99% breakpoint density intervals. Genetic similarity levels observed among SARS-CoV-2 and Bat-SARS-CoVs advocated that the latter did not exhibit the specific variant that cause outbreak in humans, proposing a suggestion that SARS-CoV-2 has originated possibly from bats. These genomic features and their probable association with virus characteristics along with virulence in humans require further consideration.
Resumo O novo coronavírus (nCoV), nomeadamente SARS-CoV-2, foi considerado responsável pela pandemia atual iniciada em Wuhan (China) desde dezembro de 2019 e foi descrito com ligação epidemiológica à China em cerca de 221 países e territórios até agora. Neste estudo, caracterizamos a linhagem genética do SARS-CoV-2 e relatamos a recombinação dentro do gênero e subgênero dos coronavírus. A relação filogenética de 39 coronavírus pertencentes a seus quatro gêneros e cinco subgêneros foi analisada usando o método de Neighbour-joining usando MEGA 6.0. Árvores filogenéticas do genoma de comprimento total, várias proteínas (espícula, envelope, membrana e nucleocapsídeo), sequências de nucleotídeos foram construídas separadamente. A recombinação putativa foi testada via RDP4. Nossa análise descreve que o SARS-CoV-2, embora mostre grande semelhança com as sequências de Bat-SARS-CoVs em todo o genoma (dando semelhança de sequência de 89%), exibe agrupamento conflitante com as sequências de coronavírus do tipo Bat-SARS (MG772933 e MG772934) Além disso, sete eventos de recombinação foram observados em SARS-CoV-2 (NC045512) por RDP4. Mas nem um único evento de recombinação preenche o alto nível de certeza. A recombinação está alojada mais em genes de proteína de pico, principalmente, do que no resto do genoma, indicando que o cluster de ponto de interrupção surge além dos intervalos de densidade de ponto de interrupção de 95% e 99%. Os níveis de similaridade genética observados entre SARS-CoV-2 e Bat-SARS-CoVs defendem que o último não exibe a variante específica que causa surto em humanos, sugerindo que SARS-CoV-2 tenha se originado possivelmente de morcegos. Essas características genômicas e sua provável associação com as características do vírus, juntamente com a virulência em humanos, requerem uma consideração mais aprofundada.