RESUMO
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by deficiency of the enzyme alpha-l-iduronidase (IDUA). MPS I affects several tissues, including the brain, leading to cognitive impairment in the severe form of the disease. Currently available treatments do not reach the brain. Therefore, in this study, we performed nasal administration (NA) of liposomal complexes carrying two plasmids encoding for the CRISPR/Cas9 system and for the IDUA gene targeting the ROSA26 locus, aiming at brain delivery in MPS I mice. METHODS: Liposomes were prepared by microfluidization, and the plasmids were complexed to the formulations by adsorption. Physicochemical characterization of the formulations and complexes, in vitro permeation, and mucoadhesion in porcine nasal mucosa (PNM) were assessed. We performed NA repeatedly for 30 days in young MPS I mice, which were euthanized at 6 months of age after performing behavioral tasks, and biochemical and molecular aspects were evaluated. RESULTS: Monodisperse mucoadhesive complexes around 110 nm, which are able to efficiently permeate the PNM. In animals, the treatment led to a modest increase in IDUA activity in the lung, heart, and brain areas, with reduction of glycosaminoglycan (GAG) levels in serum, urine, tissues, and brain cortex. Furthermore, treated mice showed improvement in behavioral tests, suggesting prevention of the cognitive damage. CONCLUSION: Nonviral gene editing performed through nasal route represents a potential therapeutic alternative for the somatic and neurologic symptoms of MPS I and possibly for other neurological disorders.
Assuntos
Mucopolissacaridose I , Animais , Encéfalo/metabolismo , Sistemas CRISPR-Cas/genética , Edição de Genes , Iduronidase/genética , Iduronidase/metabolismo , Camundongos , Mucopolissacaridose I/genética , Mucopolissacaridose I/terapia , PlasmídeosRESUMO
OBJECTIVE: To report the experience of adapting the stomatherapy service during the COVID-19 pandemic. METHOD: Experience report related to adaptations in the work routine in times of COVID-19 pandemic, from March to May 2020, in a specialized stomatherapy center in a city in the South of Brazil. RESULTS: The work routines were adapted to suit the protection measures for workers and users who used stomatherapy services. Some assistance processes were implemented to make users' access to care more flexible, and to modify routines to increase the safety of health professionals and users. CONCLUSION: The need to adapt the physical area, rethink the dynamics of care, use personal protective equipment, and guidance for servers and patients were of fundamental importance to continue attending the population safely in times of pandemic.
Assuntos
COVID-19/epidemiologia , Atenção à Saúde/organização & administração , Estomia , Pandemias , Estomas Cirúrgicos , Bandagens/provisão & distribuição , Brasil/epidemiologia , COVID-19/prevenção & controle , COVID-19/transmissão , Atenção à Saúde/estatística & dados numéricos , Hospitais Especializados/organização & administração , Humanos , Transmissão de Doença Infecciosa do Paciente para o Profissional/prevenção & controle , Estomia/enfermagem , Equipamento de Proteção IndividualRESUMO
OBJECTIVE: The aim of the study was to evaluate the association between genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 and variations in permanent tooth size (TS). MATERIALS AND METHODS: This cross-sectional study evaluated 110 individuals' dental casts to determine the maximum tooth crown size of all fully erupted permanent teeth (third molars were excluded) in the mesiodistal (MD) and buccolingual (BL) dimensions. Genomic DNA was obtained from the epithelial cells of the oral mucosa to evaluate the genetic polymorphisms in RUNX2 (rs59983488 and rs1200425), BMP4 (rs17563), BMP2 (rs235768 and rs1005464), TGFß1 (rs1800470), EGF (rs4444903), and SMAD6 (rs2119261 and rs3934908) through real-time PCR. The data were submitted to statistical analysis with a significance level of 0.05. RESULTS: The genetic polymorphisms rs59983488, rs1200425, rs17563, rs235768, rs1005464, rs1800470, and rs4444903 were associated with MD and BL TS of the upper and lower arches (p < 0.05). The polymorphism rs2119261 was associated with variation in TS only in the upper arch (p < 0.05). The rs3934908 was not associated with any TS measurement (p > 0.05). CONCLUSIONS: In summary, this study reports novel associations between variation in permanent TS and genetic polymorphisms in RUNX2, BMP4, BMP2, TGFß1, EGF, and SMAD6 indicating a possible role of these genes in dental morphology. CLINICAL RELEVANCE: Polymorphisms in odontogenesis-related genes may be involved in dental morphology enabling a prediction of permanent TS variability. The knowledge regarding genes involved in TS might impact the personalized dental treatment, considering that patients' genetic profile would soon be introduced into clinical practice to improve patient management.
Assuntos
Dentição Permanente , Dente , Estudos Transversais , Humanos , Odontogênese , Odontometria , Coroa do DenteRESUMO
ABSTRACT Objective To report the experience of adapting the stomatherapy service during the COVID-19 pandemic. Method Experience report related to adaptations in the work routine in times of COVID-19 pandemic, from March to May 2020, in a specialized stomatherapy center in a city in the South of Brazil. Results The work routines were adapted to suit the protection measures for workers and users who used stomatherapy services. Some assistance processes were implemented to make users' access to care more flexible, and to modify routines to increase the safety of health professionals and users. Conclusion The need to adapt the physical area, rethink the dynamics of care, use personal protective equipment, and guidance for servers and patients were of fundamental importance to continue attending the population safely in times of pandemic.
RESUMEN Objetivo Informar sobre la experiencia de adaptar el servicio de estomatoterapia durante la pandemia de Covid-19. Método Informe de experiencia relacionado con adaptaciones en la rutina laboral en tiempos de pandemia de Covid-19, de marzo a mayo de 2020 en un centro de referencia en estomaterapia en una ciudad en la región sur de Brasil. Resultados las rutinas de trabajo se adaptaron a las medidas de protección para trabajadores y usuarios que usaban servicios de estomatoterapia. Se implementó algunos procesos de asistencia para que el acceso de los usuarios a la atención fuera más flexible y para modificar las rutinas aumentando la seguridad de los profesionales y usuarios de la salud. Conclusión La necesidad de adaptar el área física, repensar la dinámica de la atención, el uso de equipos de protección personal, y las orientaciones para servidores y pacientes fueron de fundamental importancia para continuar ofreciendo el servicio a la población de manera segura en tiempos de pandemia.
RESUMO Objetivo Relatar a experiência das adaptações do serviço de estomaterapia durante a pandemia do Covid-19. Método Relato de experiência relacionado às adaptações na rotina de trabalho em tempos de pandemia do Covid-19, no período de março a maio de 2020 em um centro de referência em estomaterapia de uma cidade da região sul do Brasil. Resultados As rotinas de trabalho foram adaptadas para adequar às medidas de proteção para os servidores e usuários que utilizaram os serviços de estomaterapia. Foram implantados alguns processos assistências para a flexibilização do acesso de usuários para atendimento, e modificações de rotinas para o aumento da segurança dos profissionais da saúde e usuários. Conclusão A necessidade em adequar a área física, repensar a dinâmica do atendimento, uso de equipamentos de proteção individual, orientações para servidores e pacientes foi de fundamental importância para seguir o atendimento à população com segurança em tempos de pandemia.
Assuntos
Humanos , Masculino , Feminino , Pessoal de Saúde , Local de Trabalho , Adaptação a Desastres , Pandemias , Estomaterapia , Atenção Primária à Saúde , Segurança , Saúde Pública , Contenção de Riscos Biológicos , COVID-19/prevenção & controleRESUMO
RESUMO Objetivo: desvelar a percepção do ser humano internado em unidade psiquiátrica sobre o viver com doença mental. Método: trata-se de estudo de abordagem fenomenológica, cujos dados foram obtidos por meio de entrevistas com dez adultos internados em uma unidade psiquiátrica de um hospital de ensino do sul do Brasil, no período de janeiro a março de 2014. Utilizaram-se os passos da fenomenologia-hermenêutica de Paul Ricoeur e, para compreensão e interpretação das informações, o referencial teórico-filosófico de Maurice Merleau-Ponty. Resultados: revelaram três temas: o mundo do ser humano que vivencia a doença mental; percepção da doença mental para o ser humano que vivencia a internação psiquiátrica; e o ser na relação de ambiguidade: o movimento de liberdade. Conclusão: a equipe de saúde, em especial o enfermeiro, necessita incorporar a visão crítica reflexiva da prática assistencial, as bases científicas e a legislação vigente na área da saúde, em especial a saúde mental, as quais visam à autonomia de escolha centrada no ser humano que vivencia a doença mental. Também promover uma rede quente de cuidado singularizado que preze pelo acolhimento e instigue o autocuidado do ser humano por meio da educação em saúde na perspectiva de ações de integralidade. Logo, é fundamental a promoção de saúde, autonomia e liberdade pela escuta do ser humano que vivencia o fenômeno da doença mental, em seus desejos de vida e perspectivas clínicas.
RESUMEN Objetivo: revelar la percepción del ser humano internado en una unidad psiquiátrica sobre el vivir con enfermedad mental. Métodos: estudio con abordaje fenomenológico, cuyos datos fueron obtenidos por medio de entrevistas con diez adultos internados en una unidad psiquiátricos de un hospital de enseñanza del Sur de Brasil, en el periodo de enero a marzo de 2014. Se utilizaron los pasos de la fenomenología-hermenéutica de Paul Ricoeur y, para la comprensión e interpretación de las informaciones, el referencial teórico-filosófico de Merleau-Ponty. Resultados: se revelaron tres temas: el mundo del ser humano que vive la enfermedad mental; percepción de la enfermedad mental para el ser humano que vive la internación psiquiátrica; y el ser en la relación de ambigüedad: el movimiento de libertad. Conclusión: el equipo de salud, en especial el enfermero, necesita incorporar la visión critico-reflexiva de la práctica asistencial, las bases científicas y la legislación vigente en el área de la salud, en especial la salud mental, las cuales visan la autonomía de elección centrada en el ser humano que vive la enfermedad mental. También promover una red de cuidado singularizado que preconice la recepción e instigue el autocuidado del ser humano por medio de la educación en salud en la perspectiva de acciones de integralidad. Consecuentemente, es fundamental la promoción de la salud, autonomía y libertad por la escucha del ser humano que vive el fenómeno de la enfermedad mental, en sus deseos de vida y perspectivas clínicas.
ABSTRACT Objective: to reveal the perception of individuals hospitalized in psychiatric units about living with a mental disorder. Method: study with phenomenological approach with data obtained through interviews with ten adult individuals hospitalized in a psychiatric unit of a teaching hospital in the southern region of Brazil between January and March 2014. The steps of Paul Ricoeur's hermeneutic phenomenology were used, and Maurice Merleau-Ponty's theoretical-philosophical reference was used for data understanding and interpretation. Results: three themes were revealed: the world of individuals that experience a mental disorder; perception on the mental disorder for the individual that experiences psychiatric hospitalization; and the being in the ambiguity relation: the movement of freedom. Conclusion: the health care team, particularly nurses, need to incorporate the critical reflective view of the care practice, the scientific bases, and the legislation in force in the area of health, especially mental health, to enable autonomy of choice focused on the human being experiencing a mental disorder, as well as promote a warm network of individualized care that values the reception and incites the self-care through the education in health in the perspective of comprehensive actions. Therefore it is critical to promote health, autonomy, and freedom by listening to the individuals that experiences the phenomenon of a mental disorder in relation to their life desires and clinical perspectives.