Estado actual y retos futuros en el tratamiento de las enfermedades reumáticas / Current status and future challenges in the treatment of rheumatic diseases

Las nuevas estrategias, que incluyen el diagnóstico y el tratamiento tempranos, el enfoque de tratamiento dirigido a un objetivo, la remisión como ese objetivo principal del tratamiento, la participación de los pacientes en las decisiones terapéuticas, junto con el desarrollo de nuevos tratamientos efectivos, han cambiado las expectativas de los reumatólogos y de los pacientes con enfermedades reumáticas. Todavía existen, sin embargo, importantes desafíos tales como la seguridad a largo plazo de los tratamientos actuales y poder escoger tratamientos más individualizados y eficaces, de forma tal de elegir el mejor tratamiento para cada paciente. El futuro, como en el resto de la medicina, probablemente sea la prevención del desarrollo de enfermedades reumáticas. Discutiremos estos temas en esta revisión. (AU)

New strategies, including early diagnosis and treatment, targeted therapy, remission as the main objective of treatment, patient involvement in therapeutic decision-making, and the development of new effective therapies, have changed the expectations of rheumatologists and patients with rheumatic diseases.There are still serious challenges, such as the long-term safety of current treatments and the ability to make more individualized and effective treatments to choose the best treatment for each patient. The future, as that of the whole of medical science, will probably lie in preventing the development of rheumatic diseases. We will discuss these issues in this review. (AU)

Medicina de precisión: aspectos prácticos para el cirujano moderno / Precision medicine: practical aspects for the modern surgeon

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)

Artificial intelligence in the diagnosis of cardiovascular disease

SUMMARY Artificial intelligence (AI) is a field of computer science that aims to mimic human thought processes. AI techniques have been applied in cardiovascular medicine to explore novel genotypes and phenotypes in existing diseases, improve the quality of patient care, enabling cost-effectiveness, and reducing readmission and mortality rates. The potential of AI in cardiovascular medicine is tremendous; however, ignorance of the challenges may overshadow its potential clinical impact. This paper gives a glimpse of AI's application in cardiovascular clinical care and discusses its potential role in facilitating precision cardiovascular medicine.

RESUMO A inteligência artificial (IA) é um campo da ciência da computação que tem como objetivo imitar os processos de pensamento humano. Técnicas de IA têm sido aplicadas na medicina cardiovascular para explorar novos genótipos e fenótipos em doenças existentes, melhorar a qualidade do atendimento ao paciente, possibilitar custo-efetividade e reduzir taxas de readmissão e mortalidade. Existe um grande potencial da IA na medicina cardiovascular; no entanto, a ignorância dos desafios pode ofuscar seu impacto clínico. Esse artigo fornece a aplicação da IA no atendimento clínico cardiovascular e discute seu papel potencial na facilitação da medicina cardiovascular de precisão.

Medicina de precisão/medicina personalizada: análise crítica dos movimentos de transformação da biomedicina no início do século XXI / Medicina de precisión/medicina personalizada: análisis crítico de los movimientos de transformación de la biomedicina a inicios del siglo XXI / Precision medicine/personalized medicine: a critical analysis of movements in the transformation of biomedicine in the early 21st century

O grande desenvolvimento da pesquisa em genômica nas últimas décadas tem gerado muitas expectativas com relação ao seu impacto na biomedicina. Observa-se o crescente investimento em pesquisa na medicina personalizada ou de precisão, que busca customizar a prática médica com foco no indivíduo baseando-se na utilização de testes genéticos, identificação de biomarcadores e desenvolvimento de medicações alvo. O movimento da medicina personalizada ou de precisão, no entanto, é polêmico e tem suscitado um importante debate entre seus defensores e críticos. Este ensaio teve por objetivo discutir os pressupostos, promessas, limites e possibilidades da medicina personalizada ou de precisão com base em uma revisão da literatura recente situando o debate sobre o tema. A revisão aponta que muitas das promessas da medicina personalizada ou de precisão ainda não se concretizaram. Se por um lado houve enorme avanço no conhecimento sobre os mecanismos moleculares das patologias e o desenvolvimento de medicamentos que impactaram significativamente o tratamento de alguns tipos de câncer, até o momento não há evidências de que este padrão se reproduzirá em outras doenças complexas. A medicina personalizada ou de precisão deve gerar desenvolvimentos incrementais em áreas específicas da medicina, existindo, no entanto, vários obstáculos para sua generalização. O alto custo das novas biotecnologias pode agravar as desigualdades em saúde, tornando-se um problema para a sustentabilidade dos serviços de saúde, especialmente em países de média e baixa rendas. A ênfase na medicina personalizada ou de precisão pode levar ao deslocamento de recursos financeiros de iniciativas menos custosas e com maior impacto em saúde pública.

El gran desarrollo de la investigación en genómica en las últimas décadas ha generado muchas expectativas en relación con su impacto en la biomedicina. Se observa la creciente inversión en investigación en medicina personalizada o de precisión, que busca hacer a medida la práctica médica, centrándose en el individuo, basándose en la utilización de pruebas genéticas, identificación de biomarcadores y desarrollo de medicamentos diana. El movimiento de la medicina personalizada o de precisión, no obstante, es polémico y ha suscitado un importante debate entre sus defensores y críticos. Este ensayo tuvo como objetivo discutir los presupuestos, promesas, límites y posibilidades de la medicina personalizada o de precisión, en base a una revisión de la literatura reciente, situando el debate sobre este tema. La revisión apunta que muchas de las promesas de la medicina personalizada o de precisión todavía no se concretizaron. Si por un lado hubo un enorme avance en el conocimiento sobre los mecanismos moleculares de las patologías, y el desarrollo de medicamentos que impactaron significativamente el tratamiento de algunos tipos de cáncer, hasta el momento no hay evidencias de que este patrón se reproducirá en otras enfermedades complejas. La medicina personalizada o de precisión debe generar desarrollos incrementales en áreas específicas de la medicina, existiendo, no obstante, varios obstáculos para su generalización. El alto coste de las nuevas biotecnologías puede agravar las desigualdades en salud, convirtiéndose en un problema para la sostenibilidad de los servicios de salud, especialmente en países de media y baja renta. El énfasis en la medicina personalizada o de precisión puede llevar al desplazamiento de recursos financieros de iniciativas menos costosas y con mayor impacto en salud pública a otras de esta índole.

The enormous development of genomics research in recent decades has raised great expectations concerning its impact on biomedicine. There has been growing investment in research in personalized or precision medicine, which aims to customize medical practice with a focus on the individual, based on the use of genetic tests, identification of biomarkers, and development of targeted drugs. However, the personalized or precision medicine movement is controversial and has sparked an important debate between its defenders and critics. This essay aims to discuss the assumptions, promises, limits, and possibilities of personalized or precision medicine based on a review of the recent literature situating the debate on the theme. The review indicates that many of the promises of personalized or precision medicine remain unfulfilled. While there has been huge progress in knowledge on the molecular mechanisms of diseases and the development of drugs that have significantly impacted the treatment of some types of cancer, thus far there is no evidence that this same pattern will be reproduced in other complex diseases. Personalized or precision medicine is expected to generate incremental developments in specific areas of medicine, but there are obstacles to its generalization. The high cost of new biotechnologies can exacerbate health inequalities and become a problem for health services' sustainability, especially in low and middle-income countries. The emphasis on personalized or precision medicine may shift funds away from less costly interventions that have greater public health impact.

Translating genomics: cancer genetics, public health and the making of the (de)molecularised body in Cuba and Brazil / Convertendo a genômica: genética do câncer, saúde pública e a formação do corpo (des)molecularizado em Cuba e no Brasil

Abstract This article examines how cancer genetics has emerged as a focus for research and healthcare in Cuba and Brazil. Drawing on ethnographic research undertaken in community genetics clinics and cancer genetics services, the article examines how the knowledge and technologies associated with this novel area of healthcare are translated and put to work by researchers, health professionals, patients and their families in these two contexts. It illuminates the comparative similarities and differences in how cancer genetics is emerging in relation to transnational research priorities, the history and contemporary politics of public health and embodied vulnerability to cancer that reconfigures the scope and meaning of genomics as “personalised” medicine.

Resumo O artigo mostra como a genética do câncer, em Cuba e no Brasil, tornou-se matéria de pesquisa, despertando maior interesse da saúde pública. Foram usadas pesquisas etnográficas realizadas em clínicas de genética comunitária e serviços de genética do câncer para averiguar como o conhecimento e as tecnologias associadas à nova área da saúde são convertidos e empregados por pesquisadores, profissionais da saúde, pacientes e familiares nesses dois contextos. Destaca, comparativamente, as semelhanças e diferenças na maneira pela qual a genética do câncer se posiciona em relação às prioridades em pesquisas transnacionais, na história e na política contemporânea da saúde pública e a vulnerabilidade incorporada ao câncer que reconfigura o escopo e o significado da genômica como a medicina “personalizada”.

Role of biomarkers in risk stratification of acute coronary syndrome.

Diagnosis of acute coronary syndrome (ACS) encompasses a wide spectrum of myocardial ischaemia varying from assuredly benign to potentially fatal. Cardiac biomarkers have had a major impact on the management of this disease and are now the cornerstone in its diagnosis and prognosis. In this review we discuss both the established and the newer emerging biomarkers in ACS and their role in highlighting not only myocardial necrosis but also different facets of the pathophysiology of ACS. The future of cardiac biomarker testing may be in multimarker testing to better characterize each patient of ACS and thus tailor both short-term and long-term therapy accordingly. This novel concept, however, needs to be tested in clinical trials for its incremental value and cost-effectiveness.

Application of SNaPshot for analysis of thiopurine methyltransferase gene polymorphism.

Background & objectives: Mercaptopurine, azathioprine, and thioguanine, used as antineoplastic agents and immunosuppressants are catabolized by thiopurine methyltransferase (TPMT) enzyme, which exhibits genetic polymorphism. Genotyping patients and the population to which the patients belong, is important for effective treatment and reducing toxicity. There is a need for faster methods for genotyping. Hence the present study was planned to test the application of SNaPshot technique for analysis of the three common TPMT alleles: TPMT*2, TPMT*3A, and TPMT*3C in DNA from healthy Indian volunteers as well as to apply the method on cDNA samples obtained from children with acute lymphoblastic leukaemia (ALL). Method: A total of 120 healthy volunteers and 25 patients were analysed by multiplexed SNaPshot reaction. Genomic DNA was the template for most of the analyses, but additionally the cDNA synthesized for translocation detection was used as the template in case of patients with ALL. The results of SNaPshot reaction were confi rmed by direct sequencing. Results: The TPMT genotype could be reliably identifi ed by SNaPshot analysis in multiplex reactions both in genomic DNA samples and cDNA. The overall frequency of the three common polymorphisms was observed to be 4.9 per cent, arising from heterozygosity for TPMT*3C (4.1%) and TPMT*3A (0.8%). Interpretation & conclusion: SNaPshot method for TPMT polymorphism analysis works faster with the potential for high throughput. By simultaneously interrogating the genotype at multiple sites, the method can provide future opportunity to multiplex, though multiplexing has not been done in the present analysis. Heterozygosity for TPMT*3C (719 A>G) was detected in 4.1 per cent of the study population and no homozygosity was observed. Our results indicated that TPMT*3C was the most common polymorphism in Indian population, while TPMT3*A, associated with the absence of catalytic activity of TPMT, was very rare.