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1.
Braz. dent. sci ; 25(1): 1-8, 2022. tab, ilus
Article in English | LILACS, BBO | ID: biblio-1352731

ABSTRACT

Objective: to evaluate the impact of three different scan strategies and implant angulation on impression accuracy of an intraoral scanner for full-arch multiple implant scan. Material and Method: A maxillary edentulous model with six implant analogs served as a reference model. The four anterior analogs were positioned parallel to each other, the distal right and the distal left was placed with an angulation of 15o and 20o, respectively. Thirty impression were performed using an intraoral scanner (CEREC Primescan). The master cast was digitalized with an industrial reference scanner (ATOS Core 80). All scans were converted to standard tessellation language (STL), superimposed on the reference scan with a 3d inspection software (GOM Inspect Professional 2019) and then analyzed. Results: All linear distances presented equivalence [p<0.01] to those found on the reference scan for all scan strategies. All scan strategies presented a tendency of negative means for linear distances except for d4 in strategy C. All angular distances did not present equivalence [p=0.05] to those found on the reference scan. Significant 3D deviations [p<0.05] were found between strategy B (0.02 ± 0.01) and C (0.05 ± 0.04) for d1. In all others linear and angular distances no statistically significant difference was found between strategies A, B and C. Conclusions: There was no statistically significant difference between strategies A, B and C except for d1 in strategy B and C; Implant angulation did not affect the accuracy of the CEREC Primescan IOS (AU)


Objetivo: avaliar o impacto de três diferentes estratégias de escaneamento e angulação do implante na acurácia da moldagem de um scanner intraoral na moldagem de múltiplos implantes em arco completo. Material e Métodos: Um modelo edêntulo de maxila contendo seis análogos de implante serviu como modelo de referência. Os quatro análogos anteriores foram posicionados paralelos entre si, o distal direito e o distal esquerdo foram posicionados com angulação de 15o e 20o, respectivamente. Trinta moldagens foram realizadas usando um scanner intraoral (CEREC Primescan). O modelo mestre foi digitalizado com um scanner de referência industrial (ATOS Core 80). Todas as escaneamentos foram convertidas para a linguagem de mosaico padrão (STL), sobrepostas ao escaneamento de referência com um software de inspeção 3D (GOM Inspect Professional 2019) e, em seguida, analisadas. Resultados: Todas as distâncias lineares apresentaram equivalência [p <0,01] àquelas encontradas na escaneamento de referência para todas as estratégias. Todas as estratégias de escaneamento apresentaram tendência de médias negativas para distâncias lineares, exceto para d4 na estratégia C. Todas as distâncias angulares não apresentaram equivalência [p = 0,05] às encontradas no escaneamento de referência. Desvios 3D significativos [p <0,05] foram encontrados entre a estratégia B (0,02 ± 0,01) e C (0,05 ± 0,04) para d1. Em todas as outras distâncias lineares e angulares, nenhuma diferença estatisticamente significativa foi encontrada entre as estratégias A, B e C. Conclusões: Não houve diferença estatisticamente significante entre as estratégias A, B e C, exceto para d1 na estratégia B e C; A angulação do implante não afetou a precisão do CEREC Primescan. (AU)


Subject(s)
Dental Implantation , Precision Medicine , Models, Anatomic
3.
Article in English | WPRIM | ID: wpr-922464

ABSTRACT

RNA sequencing (RNAseq) can reveal gene fusions, splicing variants, mutations/indels in addition to differential gene expression, thus providing a more complete genetic picture than DNA sequencing. This most widely used technology in genomics tool box has evolved from classic bulk RNA sequencing (RNAseq), popular single cell RNA sequencing (scRNAseq) to newly emerged spatial RNA sequencing (spRNAseq). Bulk RNAseq studies average global gene expression, scRNAseq investigates single cell RNA biology up to 20,000 individual cells simultaneously, while spRNAseq has ability to dissect RNA activities spatially, representing next generation of RNA sequencing. This article highlights these technologies, characteristic features and suitable applications in precision oncology.


Subject(s)
Humans , Neoplasms , Precision Medicine , Sequence Analysis, RNA , Whole Exome Sequencing
4.
Article in English | WPRIM | ID: wpr-888602

ABSTRACT

BACKGROUND@#The physical environment can facilitate or hinder physical activity. A challenge in promoting physical activity is ensuring that the physical environment is supportive and that these supports are appropriately tailored to the individual or group in question. Ideally, aspects of the environment that impact physical activity would be enhanced, but environmental changes take time, and identifying ways to provide more precision to physical activity recommendations might be helpful for specific individuals or groups. Therefore, moving beyond a "one size fits all" to a precision-based approach is critical.@*MAIN BODY@#To this end, we considered 4 critical aspects of the physical environment that influence physical activity (walkability, green space, traffic-related air pollution, and heat) and how these aspects could enhance our ability to precisely guide physical activity. Strategies to increase physical activity could include optimizing design of the built environment or mitigating of some of the environmental impediments to activity through personalized or population-wide interventions.@*CONCLUSIONS@#Although at present non-personalized approaches may be more widespread than those tailored to one person's physical environment, targeting intrinsic personal elements (e.g., medical conditions, sex, age, socioeconomic status) has interesting potential to enhance the likelihood and ability of individuals to participate in physical activity.


Subject(s)
Air Pollution , Built Environment , Environment , Exercise/psychology , Hot Temperature , Humans , Precision Medicine/psychology , Residence Characteristics
5.
Chinese Journal of Biotechnology ; (12): 395-403, 2021.
Article in Chinese | WPRIM | ID: wpr-878570

ABSTRACT

Breast cancer is the most common cancer in women. At present, the in vivo model and traditional cell culture are mainly used in breast cancer researches. However, as high as 90% clinical trials are failed for drugs explored by the above two methods, due to the inherent species differences between humans and animals, as well as the differences in the tissue structure between organs and cells. Therefore, organoid three-dimensional culture is emerging. As a new tumor research model, organoid, a three-dimensional cell complex with spatial structure, has broad application prospects, such as precision medicine, organ transplantation, establishment of refractory disease model, gene therapy and drug research and development. Therefore, organoid is considered as one of the ideal carriers for life science research in the future. Breast cancer, a heterogeneous disease with complex phenotypes, has a low survival rate. Breast cancer organoid can reproduce many key features of human breast cancer, thus, the construction of organoid biological library of breast cancer will provide a new platform for studying the occurrence, development, metastasis and drug resistance mechanism of breast cancer. In this review, we systematically introduce the culture conditions of organoids and their application in breast cancer related research, and the application prospect of organoids.


Subject(s)
Animals , Breast Neoplasms , Cell Culture Techniques , Female , Humans , Organoids , Precision Medicine , Research
6.
Article in Chinese | WPRIM | ID: wpr-879123

ABSTRACT

This paper introduced the basic definition, application scope, advantages and challenges of the master protocol, basket design, umbrella design and platform trial, and put forward the idea of using master protocol, basket design and umbrella design in Chinese medicine(CM) by considering the characteristics of CM and research experiences. The author pointed out that master protocol, basket design and umbrella design, as a high-efficiency research and design strategy, can be used in the clinical research on the treatment of the same disease with different therapies, the treatment of different diseases with the same therapy and the combination of diseases and CM syndromes. In particular, the exploration from the classification of CM syndromes can supplement the gaps in the cli-nical research on CM syndromes. In the application of such designs, it is also necessary to pay attention to their potential challenges and develop reasonable and feasible plans on research implementation, management and statistical analysis in advance to meet these challenges.


Subject(s)
Dietary Supplements , Medicine, Chinese Traditional , Precision Medicine , Records , Research Design
7.
Rev. bras. anestesiol ; 70(6): 678-681, Nov.-Dec. 2020. tab
Article in English, Portuguese | LILACS | ID: biblio-1155781

ABSTRACT

Abstract Background: Opioid-free anesthesia decreases the incidence of opioid adverse events, but its optimal antinociceptive depth has not been clearly defined. Personalizing intraoperative opioid-free infusions with a nociception monitor may be the solution. Case report: We describe the feasibility and potential limitations of titrating opioid-free antinociception during major abdominal surgery using the Analgesia Nociception Index (Mdoloris, Lille, France) in an obese patient. After stabilizing the patient's nociception-antinociception balance intraoperatively we quickly reversed anesthesia and the patient did not require postoperative opioids. Conclusion: Personalizing opioid-free antinociception with a nociception monitor is feasible. It may optimize intraoperative antinociception and improve postoperative comfort.


Resumo Introdução A anestesia sem opioides diminui a incidência de eventos adversos associados aos opioides, mas a profundidade antinociceptiva ideal dessa abordagem não está claramente definida. Personalizar a infusão intraoperatória sem opioides com o uso de monitor de nocicepção pode ser a solução. Relato de caso Descrevemos a viabilidade e as eventuais limitações da titulação da antinocicepção sem opioides por meio do uso do Índice de Analgesia/Nocicepção (Mdoloris, Lille, França) durante cirurgia abdominal de grande porte em paciente com obesidade. Depois de estabilizar o equilíbrio nocicepção-antinocicepção da paciente no intraoperatório, revertemos rapidamente a anestesia e a paciente não precisou de opioides no pós-operatório. Conclusão A personalização da antinocicepção sem opioides por meio do emprego de monitor de nocicepção é factível. A abordagem pode otimizar a antinocicepção intraoperatória e melhorar o conforto pós-operatório.


Subject(s)
Humans , Female , Urinary Incontinence/surgery , Vesicovaginal Fistula/surgery , Precision Medicine/methods , Nociception , Anesthesia, Inhalation , Anesthesia, Intravenous , Urinary Incontinence/etiology , Obesity, Morbid/complications , Vesicovaginal Fistula/complications , Electroencephalography , Analgesia/instrumentation , Analgesia/methods , Analgesics, Opioid/adverse effects , Middle Aged
8.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1135, jul.-set. 2020. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1156435

ABSTRACT

Introducción: El comportamiento heterogéneo de los síndromes mielodisplásicos, así como los progresos en los últimos años en el campo de la genética y la biología molecular, han provocado la aparición de múltiples investigaciones con diferentes enfoques terapéuticos. Los agentes hipometilantes son hasta el momento el tratamiento estándar para esta entidad, pero desafortunadamente no son efectivos en el 100 % de los casos y la duración de su respuesta es variable. Objetivo: Analizar las opciones terapéuticas actuales para el tratamiento de los síndromes mielodisplásicos. Métodos: Se realizó una revisión de la literatura, en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico de artículos publicados en los últimos 5 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Actualmente existen múltiples opciones de tratamiento, la mayor parte dirigidos contra los eventos epigenéticos fundamentales: la hipermetilación, la modificación de las histonas diacetilasa y la activación de la respuesta inmune citotóxica contra clones anormales. Sin embargo, como no se ha establecido una única alteración, los tratamientos en la mayoría de los protocolos se adaptan al riesgo, incluyen un número reducido de casos y los resultados son limitados. Conclusiones: Se considera que una posible solución es dirigir el tratamiento a la alteración específica con base en las alteraciones moleculares y la medicina de precisión, fundamentalmente en los pacientes refractarios o en recaída postratamiento con los actuales agentes hipometilantes(AU)


Introduction: The heterogeneous characteristics of myelodysplastic syndromes, as well as the progress in recent years in the field of genetics and molecular biology, have led to the appearance of multiple investigations with different therapeutic approaches. Hypomethylating agents are so far the standard treatment for this entity, but unfortunately they are not effective in 100% of cases and the duration of their response is variable. Objective: To analyze current therapeutic options for the treatment of myelodysplastic syndromes. Methods: A literature review was carried out, in English and Spanish, through the PubMed website and the Google Scholar search engine, for articles published in the last five years. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: Currently, there are multiple treatment options, most of which are directed against fundamental epigenetic events: hypermethylation, modification of histone diacetylase, and activation of the cytotoxic immune response against abnormal clones. However, as long as a single alteration has not been established, treatments, in most protocols, are adapted to risk and include a small number of cases, while their outcomes are limited. Conclusions: It is considered that a possible solution is to direct treatment to specific alteration based on molecular alterations and precision medicine, fundamentally in refractory or relapsed patients after treatment with current hypomethylating agents(AU)


Subject(s)
Humans , Myelodysplastic Syndromes/therapy , Epigenomics/methods , Molecular Biology , Precision Medicine
9.
Actual. nutr ; 21(3): 73-79, Julio-Septiembre de 2020.
Article in English | LILACS | ID: biblio-1282367

ABSTRACT

Introducción: las características conductuales de las personas juegan un papel importante en la heterogeneidad de la res-puesta al tratamiento de la obesidad. Existe evidencia de que ciertos rasgos de la conducta ingestiva humana serían media-dores entre la susceptibilidad genética individual y el exceso de peso corporal. Los fenotipos de comportamiento alimentario pueden utilizarse como predictores de éxito terapéutico. Para mejorar la eficacia de los tratamientos de la obesidad es nece-sario contar con herramientas prácticas que evalúen dichos fe-notipos para realizar abordajes personalizados o de precisión. Objetivos: diseñar y evaluar las propiedades psicométricas de una escala autoadministrada destinada a identificar fenotipos de comportamiento alimentario. Materiales y métodos: 177 sujetos adultos participaron vo-luntariamente en un estudio de validación de una escala au-toadministrada para identificar fenotipos comportamentales en adultos (Escala de Fenotipos de Comportamiento Alimentario, EFCA). La misma consta de 16 ítems que evalúan creencias y actitudes personales de la conducta ingestiva medidos a partir de una escala de Likert de cinco valores (1. nunca a 5. siempre). Se identificaron cinco factores por análisis paralelo y se realizó un análisis factorial exploratorio por máxima verosimilitud con rotación varimax como método de extracción. Resultados: se incluyeron 177 adultos, 75,7% mujeres, 75% con exceso de peso con media de índice de masa corporal (IMC) 30,46 kg/m2 (DE=7,06). La estructura factorial mostró buen ajuste a los datos, con cargas factoriales superiores a .40 en to-dos los casos. El coeficiente Alpha de Cronbach indicó fiabilidad aceptable de .86 para la escala total y entre .73 y .88 para las subescalas obtenidas. Conclusiones: la EFCA es una escala con niveles aceptables de validez y confiabilidad para identificar fenotipos de comporta-miento alimentario en adultos.


Subject(s)
Feeding Behavior , Precision Medicine , Snacks
10.
Rev. argent. coloproctología ; 31(2): 51-53, jun. 2020.
Article in English, Spanish | LILACS | ID: biblio-1117007

ABSTRACT

Los contenidos de este capítulo se basan en la 3a edición de las Clínicas Quirúrgicas de Cáncer Colorrectal. C. Vaccaro y N. Peralta. del hospital ediciones 2020 (en prensa)


Subject(s)
Colorectal Neoplasms/genetics , Biomarkers, Tumor/genetics , Precision Medicine/trends , Pharmacogenetics/trends , Colorectal Neoplasms/etiology , Colorectal Neoplasms/therapy , Molecular Epidemiology/trends , Mutation , Neoplasm Metastasis/genetics , Neoplasm Metastasis/therapy
12.
Rev. cuba. cir ; 59(1): e835, ene.-mar. 2020.
Article in Spanish | LILACS, CUMED | ID: biblio-1126409

ABSTRACT

RESUMEN Con el auge contemporáneo de novedosos paradigmas en las ciencias médicas, como la Medicina personalizada, se busca una resección oncológica más eficaz, con nuevos márgenes quirúrgicos de acuerdo al estadio tumoral. Para alcanzar estos resultados, se abren paso técnicas como la cirugía radioinmunoguiada. En Cuba, los adelantos biotecnológicos han permitido el desarrollo de fármacos líderes en el mundo, como el Nimotuzumab, un anticuerpo monoclonal dirigido contra el receptor del factor de crecimiento epidérmico, sobrexpresado en múltiples tumores malignos de origen epitelial. Al marcarlo con un radioisótopo puede auxiliar al cirujano en la determinación precisa de la extensión tumoral (radioguiada) de estas neoplasias durante el acto quirúrgico(AU)


ABSTRACT The contemporary rise of new paradigms within medical sciences, such as personalized medicine, a more effective oncological resection is pursued, with new surgical margins based on tumor stage. To achieve these outcomes, some techniques, such as radioimmunoguided surgery, are expanding. In Cuba, biotechnological advances have allowed the development of world-leading drugs, such as nimotuzumab, a monoclonal antibody directed against the epidermal growth factor receptor, overexpressed in multiple malignant tumors of epithelial origin. Marking it with a radioisotope can help the surgeon in the precise determination of tumor extent (radioguided) of these malignancies during the surgical act(AU)


Subject(s)
Humans , Precision Medicine/methods , Gastrointestinal Neoplasms/diagnosis
13.
Braz. j. otorhinolaryngol. (Impr.) ; 86(1): 63-73, Jan.-Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1089372

ABSTRACT

Abstract Introduction The types of allergic rhinitis are roughly classified based on the causative antigens, disease types, predilection time, and symptom severity. Objective To examine the clinical typing and individualized treatment approach for allergic rhinitis and to determine the optimal treatment method for this disease using various drug combination therapies. Methods A total of 108 participants with allergic rhinitis were divided into three groups based on symptoms. Subsequently, each group was further categorized into four subgroups based on the medications received. The efficacy of the treatments was evaluated using the visual analog scale VAS scores of the total and individual nasal symptoms, decline index of the symptom score, histamine and leukotriene levels, and mRNA and protein expression levels of histamine 1 and cysteinyl leukotriene 1 receptors. Results Loratadine + mometasone furoate and loratadine + mometasone furoate + montelukast significantly improved the sneezing symptom and reduced the histamine levels compared with the other combination therapies (p < 0.05). Meanwhile, montelukast + mometasone furoate and montelukast + mometasone furoate + loratadine considerably improved the nasal obstruction symptom and decreased the leukotriene D4 levels compared with the other combination therapies (p < 0.05). Conclusion Clinical symptom evaluation combined with experimental detection of histamine and leukotriene levels can be an objective and accurate method to clinically classify the allergic rhinitis types. Furthermore, individualized treatment based on allergic rhinitis classification can result in a good treatment efficacy.


Resumo Introdução A rinite alérgica é basicamente classificada de acordo com os antígenos causadores, tipos de doença, peridiocidade e gravidade dos sintomas. Objetivo Avaliar os tipos clínicos e a abordagem terapêutica individualizada para cada tipo de rinite alérgica e determinar o método de tratamento ideal utilizando várias terapias de combinação de fármacos. Método Um total de 108 participantes com rinite alérgica foram divididos em três grupos com base nos sintomas. Posteriormente, cada grupo foi subsequentemente categorizado em quatro subgrupos com base nos medicamentos recebidos. A eficácia dos tratamentos foi avaliada utilizando os escores da escala visual analógica EVA dos sintomas nasais totais e individualmente, índice de declínio do escore de sintomas, níveis de histamina e leucotrienos e níveis de expressão de mRNA e proteína dos receptores de histamina 1 e cisteinil-leucotrieno 1. Resultados As associações entre loratadina + furoato de mometasona, assim como a de loratadina + furoato de mometasona + montelucaste melhoraram significativamente o sintoma de espirros e reduziram os níveis de histamina em comparação às outras terapias combinadas (p < 0,05). Por outro lado, a associação montelucaste + furoato de mometasona, assim como a associação montelucaste + furoato de mometasone + loratadina melhoraram consideravelmente o sintoma de obstrução nasal e diminuíram os níveis de leucotrieno D4 em comparação com as outras combinações (p < 0,05). Conclusão A avaliação clínica dos sintomas combinada com a detecção experimental dos níveis de histamina e leucotrieno pode ser um método objetivo e preciso para classificar clinicamente os tipos de rinite alérgica. Além disso, o tratamento individualizado baseado na classificação da rinite alérgica pode resultar no aumento da eficácia do tratamento.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Histamine/blood , Leukotriene D4/blood , Drug Therapy, Combination/methods , Precision Medicine/methods , Rhinitis, Allergic/blood , Quinolines/therapeutic use , Sneezing , RNA, Messenger/genetics , Receptors, Histamine H1/genetics , Nasal Obstruction/drug therapy , Treatment Outcome , Loratadine/therapeutic use , Receptors, Leukotriene/genetics , Anti-Allergic Agents/therapeutic use , Rhinitis, Allergic/diagnosis , Rhinitis, Allergic/drug therapy , Mometasone Furoate/therapeutic use , Acetates/therapeutic use , Nasal Mucosa
15.
Brasília; IPEA; 2020. 59 p. ilus.(Texto para Discussão / IPEA, 2557).
Monography in Portuguese | LILACS, ECOS | ID: biblio-1100676

ABSTRACT

A medicina de precisão, ou medicina personalizada, é a customização de tratamento médico com base na capacidade de classificar indivíduos em subpopulações que diferem na susceptibilidade a uma determinada doença ou na resposta a um tratamento específico. Essa nova percepção sobre a forma de diagnóstico e tratamento vem ganhando espaço, dado o envelhecimento da população e a consequente transição epidemiológica, com ganho de evidência para as doenças crônico-degenerativas. As principais tecnologias incorporadas pela literatura no conceito de medicina de precisão são testes genéticos (diagnóstico); biossensores e wearables (monitoramento); e terapias celulares e gênicas (tratamento), sendo a maioria de recente implementação ou ainda em desenvolvimento. Os benefícios individuais do uso dessas tecnologias são claros, mas ainda há desafios para seu uso coletivo, tendo em vista, principalmente, seus custos. Este texto apresenta as tecnologias de medicina de precisão já existentes e discute sua eficácia e eficiência, bem como seus impactos nos custos e nos sistemas de saúde de forma geral. Além disso, são avaliados os desafios para o seu desenvolvimento e em que medida países como o Brasil podem atuar como usuários ou produtores dessas tecnologias.


Precision medicine or personalized medicine refers to the customization of medical treatment based on the ability to classify individuals into subpopulations that differ in susceptibility to a particular disease or in response to a specific treatment. This new perception about diagnosis and treatment is growing throughout the world, given the aging of the population and the consequent epidemiological transition, with gain of evidence for chronic-degenerative diseases. The main technologies incorporated by the literature in the concept of precision medicine are genetic tests (diagnosis), biosensors and wearables (monitoring), cellular and gene therapies (treatment), most of which have been recently implemented or are still under development. Individual benefits of precision medicine are clear, but there are still challenges for their collective use, given mainly its costs. This text presents the existing technologies and discusses their effectiveness and efficiency as well as their costs and impacts on the health system. In addition, we also discuss challenges to its development and to how countries such as Brazil could play a role as users or producers of these technologies.


Subject(s)
Genetic Testing , Health , Genomics , Precision Medicine
16.
Cad. Saúde Pública (Online) ; 36(12): e00115720, 2020.
Article in Portuguese | SES-SP, LILACS, SES-SP | ID: biblio-1142635

ABSTRACT

Resumo: O presente artigo se propõe a discutir as muitas complexidades envolvidas na incorporação de novas tecnologias em saúde para doenças raras, tomando como foco central da discussão o caso da fibrose cística. Tal escolha acontece por ser essa uma doença rara, genética, autossômica recessiva, considerada a mais comum entre as doenças raras. Também por ser uma doença que tem se beneficiado imensamente dos investimentos em pesquisa no campo da biologia molecular, feitos principalmente nos Estados Unidos, mas também em grupos de pesquisa europeus que resultaram no registro e comercialização de quatro novos medicamentos. Esses novos fármacos atuam, pela primeira vez, no defeito básico da fibrose cística. Numa perspectiva que entende as doenças raras como um campo de pesquisa tecido entre muitos outros, o presente texto tenta problematizar, com base em uma perspectiva mais centrada nas pessoas com fibrose cística, a dualidade de testemunhar de longe a molecularizaçao da vida, o surgimento de medicamentos de última geração que interrompem, em nível molecular, a cascata de erros e portanto sintomas e evolução de sua doença. O texto busca trazer para o debate os vários elementos que atravessam a complexa realidade local dos pacientes brasileiros com fibrose cística, num contexto global de inovação tecnológica e de quebra de paradigma em seus tratamentos. Baseando-se no campo das doenças raras, passando pela apresentação da fibrose cística em tempos da medicina de precisão, aliado a discussões sobre biopolíticas num contexto de inovação em saúde e medicamentos de alto custo, o artigo tenta dar visibilidade aos desafios e possibilidades do tempo presente.


Abstract: The article proposes to discuss the many complexities involved in the incorporation of new health technologies for rare diseases, with a central focus on the case of cystic fibrosis. Cystic fibrosis was chosen because it is a autosomal recessive genetic disorder, considered the most common of the rare diseases. The disease has also benefited greatly from investments in research in the field of molecular biology, mainly in the United States, but also among European research groups, which resulted in the registration and marketing of four new drugs. These new drugs act for the first time on the basic defect in cystic fibrosis. From a perspective that views rare diseases as a field of research woven among many others, the article aims to problematize cystic fibrosis from a more person-centered approach, the duality of witnessing from afar the molecularization of life, the emergence of last-generation drugs that interrupt, at the molecular level, the cascade of errors and thus the symptoms and evolution of the disease. The article aims to bring various elements to the debate that traverse the complex local reality of Brazilian cystic fibrosis patients in a global context of technological innovation and with a break in the treatment paradigm. Based on the field of rare diseases, including the presentation of cystic fibrosis in the age of precision medicine, alongside discussions on biopolitics in a context of health innovation and high-cost drugs, the article aims to shed light on the current challenges and possibilities.


Resumen: El presente artículo se propone discutir las diversas complejidades implicadas en la incorporación de nuevas tecnologías en salud para enfermedades raras, centrando la discusión en el caso de la fibrosis quística. Tal elección se produce por ser esta una enfermedad rara, genética, autosómica recesiva, considerada la más común entre las enfermedades raras. También por ser una enfermedad que se ha beneficiado inmensamente de las inversiones en investigación en el campo de la biología molecular, realizadas no sólo en los Estados Unidos, sino también en grupos de investigación europeos que resultaron en el registro y comercialización de cuatro nuevos medicamentos. Estos nuevos fármacos actúan, por la primera vez, en el defecto básico de la fibrosis quística. Desde una perspectiva que entiende las enfermedades raras, como un campo de investigación tejido entre muchos otros, el presente texto intenta problematizar, a partir de una perspectiva más centrada en las personas con fibrosis quística, la dualidad de testimoniar de lejos la molecularización de la vida, el surgimiento de medicamentos de última generación que interrumpen, a nivel molecular, la cascada de errores y por tanto síntomas y evolución de su enfermedad. El texto busca presentar en el debate los diferentes elementos que atraviesan la compleja realidad local de los pacientes brasileños con fibrosis quística, en un contexto global de innovación tecnológica y de quiebra de paradigma en sus tratamientos. A partir del campo de las enfermedades raras, pasando por la presentación de la fibrosis quística en tiempos de la medicina de precisión, junto a discusiones sobre biopolíticas en un contexto de innovación en salud y medicamentos de alto coste, el artículo intenta dar visibilidad a los desafíos y posibilidades del tiempo presente.


Subject(s)
Humans , Cystic Fibrosis/therapy , Brazil , Cystic Fibrosis Transmembrane Conductance Regulator , Rare Diseases/therapy , Precision Medicine
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