RESUMEN
Chemical pollution poses a significant threat to human health, with detrimental effects on various physiological systems, including the respiratory, cardiovascular, mental, and perinatal domains. While the impact of pollution on these systems has been extensively studied, the intricate relationship between chemical pollution and immunity remains a critical area of investigation. The focus of this study is to elucidate the relationship between chemical pollution and human immunity. To accomplish this task, this study presents a comprehensive review that encompasses in vitro, ex vivo, and in vivo studies, shedding light on the ways in which chemical pollution can modulate human immunity. Our aim is to unveil the complex mechanisms by which environmental contaminants compromise the delicate balance of the body's defense systems going beyond the well-established associations with defense systems and delving into the less-explored link between chemical exposure and various immune disorders, adding urgency to our understanding of the underlying mechanisms and their implications for public health.
Asunto(s)
Contaminación Ambiental , Humanos , Contaminación Ambiental/efectos adversos , Contaminantes Ambientales/toxicidad , Exposición a Riesgos Ambientales/efectos adversos , Inmunidad/efectos de los fármacos , Sistema Inmunológico/efectos de los fármacos , AnimalesRESUMEN
The current genetic diagnostic workup of congenital cataract (CC) is mainly based on NGS panels, whereas exome sequencing (ES) has occasionally been employed. In this multicentre study, we investigated by ES the detection yield, mutational spectrum and genotype-phenotype correlations in a CC cohort recruited between 2020 and mid-2022. The cohort consisted of 67 affected individuals from 51 unrelated families and included both non-syndromic (75%) and syndromic (25%) phenotypes, with extra-CC ocular/visual features present in both groups (48% and 76%, respectively). The functional effect of variants was predicted by 3D modelling and hydropathy properties changes. Variant clustering was used for the in-depth assessment of genotype-phenotype correlations. A diagnostic (pathogenic or likely pathogenic) variant was identified in 19 out of 51 probands/families (~37%). In a further 14 probands/families a candidate variant was identified: in 12 families a VUS was detected, of which 9 were considered plausibly pathogenic (i.e., 4 or 5 points according to ACMG criteria), while in 2 probands ES identified a single variant in an autosomal recessive gene associated with CC. Eighteen probands/families, manifesting primarily non-syndromic CC (15/18, 83%), remained unsolved. The identified variants (8 P, 12 LP, 10 VUS-PP, and 5 VUS), half of which were unreported in the literature, affected five functional categories of genes involved in transcription/splicing, lens formation/homeostasis (i.e., crystallin genes), membrane signalling, cell-cell interaction, and immune response. A phenotype-specific variant clustering was observed in four genes (KIF1A, MAF, PAX6, SPTAN1), whereas variable expressivity and potential phenotypic expansion in two (BCOR, NHS) and five genes (CWC27, KIF1A, IFIH1, PAX6, SPTAN1), respectively. Finally, ES allowed to detect variants in six genes not commonly included in commercial CC panels. These findings broaden the genotype-phenotype correlations in one of the largest CC cohorts tested by ES, providing novel insights into the underlying pathogenetic mechanisms and emphasising the power of ES as first-tier test.
RESUMEN
This study details the design, fabrication, clinical trials' evaluation, and analysis after the clinical application of 3D-printed bone reconstruction implants made of nHAp@PLDLLA [nanohydroxyapatite@poly(L-lactide-co-D,L-lactide)] biomaterial. The 3D-printed formulations have been tested as bone reconstruction Cranioimplants in 3 different medical cases, including frontal lobe, mandibular bone, and cleft palate reconstructions. Replacing one of the implants after 6 months provided a unique opportunity to evaluate the post-surgical implant obtained from a human patient. This allowed us to quantify physicochemical changes and develop a spatial map of osseointegration and material degradation kinetics as a function of specific locations. To the best of our knowledge, hydrolytic degradation and variability in the physicochemical and mechanical properties of the biomimetic, 3D-printed implants have not been quantified in the literature after permanent placement in the human body. Such analysis has revealed the constantly changing properties of the implant, which should be considered to optimize the design of patient-specific bone substitutes. Moreover, it has been proven that the obtained composition can produce biomimetic, bioresorbable and bone-forming alloplastic substitutes tailored to each patient, allowing for shorter surgery times and faster patient recovery than currently available methods.
Asunto(s)
Durapatita , Impresión Tridimensional , Humanos , Durapatita/química , Implantes Absorbibles , Sustitutos de Huesos/química , Cráneo/cirugía , Poliésteres/química , Masculino , Diseño de Prótesis , Materiales Biocompatibles/química , FemeninoRESUMEN
Uncommon Salmonella Infantis variants displaying only flagellar antigens phenotypically showed identical incomplete antigenic formula but differed by molecular serotyping. Although most formed rough colonies, all shared antimicrobial resistances and the presence of usg gene with wild-type Salmonella Infantis. Moreover, they were undistinguishable wild-type Salmonella Infantis by whole-genome sequencing.
Asunto(s)
Cadena Alimentaria , Aves de Corral , Animales , Italia/epidemiología , Salmonella/genética , SerotipificaciónRESUMEN
Introdução: Pacientes com patologias cardiovasculares apresentam comprometimento nas dimensões física, emocional e sócio espiritual devido a alterações patológicas, podendo repercutir cotidianamente no processo saúde-doença. Diante das fragilidades e possíveis complicações, cabe à equipe de enfermagem o domínio de conhecimento técnico e científico, bem como de humanização. Assim, por meio da assistência humanizada a equipe de enfermagem buscará estratégias adequadas para tratar os aspectos emocionais, sociais, psicológicos e físicos, os quais deverão ser avaliados continuamente. Objetivo: Descrever as principais práticas da equipe de enfermagem relacionadas a humanização junto aos pacientes portadores de doenças cardiovasculares e seus familiares. Material e Método: Estudo de revisão bibliográfica, descritivo, qualitativo, cuja coleta de dados foi realizada no banco de dados LiLACS, acessado por meio do portal eletrônico da Biblioteca Virtual em Saúde. Resultados: Foram utilizados cinco artigos das 2843 publicações localizadas, guiados pelos descritores que contemplavam o tema abordado e criadas pelo cruzamento das palavras-chave estabelecidas. Duas categorias temáticas: Práticas humanizadas realizadas pela equipe de enfermagem ao paciente cardíaco e Percepção do familiar em relação as práticas humanizadas realizadas pela equipe de enfermagem ao paciente cardíaco. Conclusão: A assistência, bem como bons resultados no tratamento, decorrem e tem relevância nas práticas humanizadas oferecidas pela equipe de enfermagem no atendimento de pacientes com afecções cardíacas e seus familiares.
Introduction: Patients with cardiovascular pathologies present impairment in the physical, emotional and socio-spiritual dimensions due to pathological changes, which may have daily repercussions on the health-disease process. Faced with weaknesses and possible complications, it is up to the nursing team to master technical and scientific knowledge, as well as humanization. Thus, through humanized care, the nursing team will seek appropriate strategies to deal with emotional, social,psychological and physical aspects, which should be continuously evaluated. Objective: To describe the main practices of the nursing team related to humanization with patients with cardiovascular diseases and their families. Material and Method: Bibliographic review, descriptive, qualitative study, whose data collection was carried out in the LiLACS database, accessed through the electronic portal of the Virtual Health Library. Results: Five articles from the 2843 publications located were used, guided by the descriptors that contemplated the topic addressed and created by crossing the established keywords. Two thematic categories: Humanized practices performed by the nursing team to the cardiac patient and Perception of the family member in relation to the humanized practices carried out by the nursing team to the cardiac patient. Conclusion: Assistance, as well as good treatment results, derive from and are relevant to the humanized practices offered by the nursing team in the care of patients with cardiac conditions and their families.
Introducción: Los pacientes con patologías cardiovasculares presentan afectaciones en las dimensiones física, emocional y socioespiritual debido a cambios patológicos, que pueden repercutir en el día a día del proceso salud-enfermedad. Frente a las debilidades y posibles complicaciones, corresponde al equipo de enfermería dominar los conocimientos técnicos y científicos, así como la humanización. Así, a través del cuidado humanizado, el equipo de enfermería buscará estrategias adecuadas para el enfrentamiento de los aspectos emocionales, sociales, psicológicos y físicos, que deben ser evaluados continuamente. Objetivo: Describir las principales prácticas del equipo de enfermería relacionadas con la humanización con pacientes con enfermedades cardiovasculares y sus familias. Material y Método: Revisión bibliográfica, estudio descriptivo, cualitativo, cuya recolección de datos se realizó en la base de datos LiLACS, accedida a través del portal electrónico de la Biblioteca Virtual en Salud. Resultados: Se utilizaron cinco artículos de las 2843 publicaciones localizadas, guiados por los descriptores que contemplaban el tema abordado y creados a partir del cruce de las palabras clave establecidas. Dos categorías temáticas: Prácticas humanizadas realizadas por el equipo de enfermería al paciente cardíaco y Percepción del familiar en relación a las prácticas humanizadas realizadas por el equipo de enfermería al paciente cardíaco. Conclusión: La asistencia, así como los buenos resultados del tratamiento, se derivan y son relevantes para las prácticas humanizadas ofrecidas por el equipo de enfermería en el cuidado de los pacientes con condiciones cardíacas y sus familias.
Asunto(s)
Humanos , Humanización de la Atención , Cardiopatías/enfermería , Relaciones Enfermero-Paciente , Atención de EnfermeríaRESUMEN
A equipe de enfermagem tem papel fundamental na prevenção da hipotermia no cliente cirúrgico para o controle e a prevenção de complicações, sendo a principal a infecção de sítio cirúrgico, que diminui custos para a instituiçãoe melhora a qualidade da assistência para o cliente. O objetivo com esta pesquisa foi analisar o conhecimento do profissional de enfermagem de nível médio sobre a relação do controle da hipotermia para a prevenção da infecção desítio cirúrgico. Realizou-se um estudo descritivo de caráter exploratório no centro cirúrgico de um hospital filantrópico no interior de São Paulo, do qual participaram 21 colaboradores de ambos os sexos, profissionais de enfermagem. Para a coleta de dados, foi utilizado um formulário de questões como instrumento norteador. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Paulista. No estudo, evidenciou-se que 85,7% demonstraram não ter conhecimento de que a hipotermia é um fator de risco para infecção de sítio cirúrgico, mostrando a necessidade de o profissional de enfermagem possuir amplo conhecimento na área em que atua, já que os avanços da tecnologia, descobertas científicas são constantes e a reciclagem e a atualização tornam-se imprescindíveis. São fundamentais ações estratégicas para transformar a organização das práticas de saúde e práticas pedagógicas, o que implica um trabalho articulado entre o sistema de saúde e as instituições formadoras para a construção do conhecimento, no qual a teoria e a prática se fundem, proporcionando segurança e qualidade para a assistência ao cliente cirúrgico. Para isso o profissional enfermeiro deve atuar efetivamente como supervisor e líder, repassando novos conhecimentos e informações relevantes a toda sua equipe.
The nursing team plays a fundamental role in preventing and controlling hypothermia in a surgical patient. Such control is essential to avoid complications, such as the surgical wound infection. It helps to reduce costs and improve the quality in patient care. This study aims to analyze the nursing assistants knowledge about the relationship between the control of hypothermia and the surgical site infection prevention. We conducted a descriptive exploratory study in the surgical center of a philanthropic hospital in the State of São Paulo. 21 nursing professionals of both sexes participated in the survey. A questionnaire was used as data collection method. The study was approved by the Research Ethics Committee of the Universidade Paulista. The results indicated that 85.7% of the nursing assistants were not aware that hypothermia is a risk factor for surgical wound infection what stresses the need for the nursing professionals to possess an extensive knowledge in the area. Advances in technology and scientific discoveries are constant and refreshment and update courses become indispensable. In this context strategic actions are fundamental to transform healthcare organization and teaching practices. Their implementation would require an articulated work between the health system and the nursing training schools, where theory and practice could merge to provide safetyand quality to the surgical patient. For this the professional nurse has to act effectively as a supervisor and leader, transmitting knowledge and relevant information to his/her team.
El equipo de enfermería tiene un papel fundamental en la prevención de la hipotermia del cliente quirúrgico para control y prevención de complicaciones, principalmente de la infección de sitio quirúrgico. Esto ayuda a disminuir costos y mejorar la calidad de la atención al cliente. La presente investigación fue realizada con la finalidad de evaluar el conocimiento de los auxiliares de enfermería sobre la relación enre el control de la hipotermia y la prevención parainfección de sitio quirúrgico. Se trata de un estudio descriptivo exploratorio llevado a cabo en el centro quirúrgico de un hospital filantrópico del interior de São Paulo. Participaron 21 profesionales de enfermería de ambos sexos. Para la recogida de datos fue utilizado un cuestionario estructurado. El estudio fue aprobado por el Comité de Ética en Investigación de la Universidad Paulista. Los resultados señalan que el 85,7% de los auxiliares de enfermería nosabe que la hipotermia es un factor de riesgo para infección de sitio quirúrgico lo cual refuerza la necesidad de que dichos profesionales adquieran amplio conocimiento sobre su área de actuación. Los avances tecnológicos y los descubrimientos científicos son algo constante y, por ello, es indispensable que los profesionales se reciclen y estén actualizados permanentemente. Las acciones estratégicas son fundamentales para transformar la organización de las prácticas de salud y las prácticas pedagógicas, lo cual significa que el sistema de salud trabaje de forma articulada con las instituciones a cargo de la construcción del conocimiento. Es así como teoría y práctica se funden para proporcionar seguridad y calidad de atención al cliente quirúrgico. Para ello, el enfermero profesional debe actuar efectivamente como supervisor y jefe, trasmitiendo conocimiento e información relevante a su equipo.