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Abstract In recent decades, there have been significant advances in the diagnosis of diffuse gliomas, driven by the integration of novel technologies. These advancements have deepened our understanding of tumor oncogenesis, enabling a more refined stratification of the biological behavior of these neoplasms. This progress culminated in the fifth edition of the WHO classification of central nervous system (CNS) tumors in 2021. This comprehensive review article aims to elucidate these advances within a multidisciplinary framework, contextualized within the backdrop of the new classification. This article will explore morphologic pathology and molecular/genetics techniques (immunohistochemistry, genetic sequencing, and methylation profiling), which are pivotal in diagnosis, besides the correlation of structural neuroimaging radiophenotypes to pathology and genetics. It briefly reviews the usefulness of tractography and functional neuroimaging in surgical planning. Additionally, the article addresses the value of other functional imaging techniques such as perfusion MRI, spectroscopy, and nuclear medicine in distinguishing tumor progression from treatment-related changes. Furthermore, it discusses the advantages of evolving diagnostic techniques in classifying these tumors, as well as their limitations in terms of availability and utilization. Moreover, the expanding domains of data processing, artificial intelligence, radiomics, and radiogenomics hold great promise and may soon exert a substantial influence on glioma diagnosis. These innovative technologies have the potential to revolutionize our approach to these tumors. Ultimately, this review underscores the fundamental importance of multidisciplinary collaboration in employing recent diagnostic advancements, thereby hoping to translate them into improved quality of life and extended survival for glioma patients.
Resumo Nas últimas décadas, houve avanços significativos no diagnóstico de gliomas difusos, impulsionados pela integração de novas tecnologias. Esses avanços aprofundaram nossa compreensão da oncogênese tumoral, permitindo uma estratificação mais refinada do comportamento biológico dessas neoplasias. Esse progresso culminou na quinta edição da classificação da OMS de tumores do sistema nervoso central (SNC) em 2021. Esta revisão abrangente tem como objetivo elucidar esses avanços de forma multidisciplinar, no contexto da nova classificação. Este artigo irá explorar a patologia morfológica e as técnicas moleculares/genéticas (imuno-histoquímica, sequenciamento genético e perfil de metilação), que são fundamentais no diagnóstico, além da correlação dos radiofenótipos da neuroimagem estrutural com a patologia e a genética. Aborda sucintamente a utilidade da tractografia e da neuroimagem funcional no planejamento cirúrgico. Destacaremos o valor de outras técnicas de imagem funcional, como ressonância magnética de perfusão, espectroscopia e medicina nuclear, na distinção entre a progressão do tumor e as alterações relacionadas ao tratamento. Discutiremos as vantagens das diferentes técnicas de diagnóstico na classificação desses tumores, bem como suas limitações em termos de disponibilidade e utilização. Além disso, os crescentes avanços no processamento de dados, inteligência artificial, radiômica e radiogenômica têm grande potencial e podem em breve exercer uma influência substancial no diagnóstico de gliomas. Essas tecnologias inovadoras têm o potencial de revolucionar nossa abordagem a esses tumores. Em última análise, esta revisão destaca a importância fundamental da colaboração multidisciplinar na utilização dos recentes avanços diagnósticos, com a esperança de traduzi-los em uma melhor qualidade de vida e uma maior sobrevida.
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Abstract Precision medicine has revolutionized the field of neuroimmunology, with innovative approaches that characterize diseases based on their biology, deeper understanding of the factors leading to heterogeneity within the same disease, development of targeted therapies, and strategies to tailor therapies to each patient. This review explores the impact of precision medicine on various neuroimmunological conditions, including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), optic neuritis, autoimmune encephalitis, and immune-mediated neuropathies. We discuss advances in disease subtyping, recognition of novel entities, promising biomarkers, and the development of more selective monoclonal antibodies and cutting-edge synthetic cell-based immunotherapies in neuroimmunological disorders. In addition, we analyze the challenges related to affordability and equity in the implementation of these emerging technologies, especially in situations with limited resources.
Resumo A medicina de precisão está revolucionando o campo da neuroimunologia, com uma abordagem inovadora caracterizada pela classificação de doenças com base em sua biologia, compreensão mais profunda dos fatores que levam à heterogeneidade dentro da mesma doença, desenvolvimento de terapias com alvos específicos e estratégias para adaptar as terapias a cada paciente. Esta revisão explora o impacto da medicina de precisão em várias condições neuroimunológicas, incluindo esclerose múltipla (EM), distúrbio do espectro da neuromielite óptica (NMOSD), doença associada ao anticorpo anti-glicoproteína da mielina do oligodendrócito (MOGAD), neurites ópticas, encefalites autoimunes e neuropatias imunomediadas. Discutimos avanços na subclassificação de doenças, reconhecimento de novas entidades, biomarcadores promissores e desenvolvimento de anticorpos monoclonais mais seletivos e imunoterapias de ponta baseadas em células sintéticas para as condições acima. Além disso, analisamos os desafios relacionados com acessibilidade e equidade na implementação dessas tecnologias emergentes, especialmente em ambientes com recursos limitados.
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Resumen La epilepsia es un trastorno neurológico caracterizado por crisis epilépticas recurrentes no provocadas, en el cual la genética tiene un factor etiológico importante. Durante las últimas décadas se ha logrado encontrar genes específicos involucrados en la patogénesis de esta condición. Actualmente existen múltiples exámenes disponibles en la práctica clínica para el diagnóstico genético, siendo los más útiles los paneles multi-genes y la secuenciación del exoma completo por medio de next generation sequencing (NGS). El tener un diagnósti co genético puede mejorar la calidad de vida de cada paciente y su familia, al mismo tiempo que nos ayuda a individualizar el tratamiento haciéndolo más eficaz. Algunos ejemplos en los que el diagnóstico genético puede modificar la conducta terapéutica incluyen el gen SCN1A en que se recomienda no utilizar medicamentos bloqueadores de canales de sodio y el gen SLC2A1 en el que se recomienda el inicio de la dieta cetogénica. El futuro de la investigación en medicina de precisión en epilepsia es muy prometedor, con el objetivo de que cada paciente reciba un tratamiento acorde a su etio logía genética.
Abstract Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. It is known that genetics play an important etiology roll. During the last decades it has been possible to find specific genes involved in the pathogenesis of this condition. There are currently multiple studies available in clinical practice for genetic diagnosis, the most useful being the next generation se quencing (NGS) techniques with multi-gene panels and whole exome sequencing. Having a genetic diagnosis can help improve the quality of life of each patient and their family, while it helps us to individualize the treatment, making it more effective. Some examples in which ge netic diagnosis can modify therapeutic conduct include the SCN1A gene, in which it is recommended not to use drugs that block Sodium channels, and the SLC2A1 gene, in which starting ketogenic diet is recommended. The future of precision medicine research in epilepsy is very promising, with the goal that each patient receives treatment according to their genetic etiology.
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Resumen ChatGPT es un asistente virtual con inteligencia artificial que utiliza lenguaje natural para comunicarse, es decir, mantiene conversaciones como las que se tendrían con otro humano. Puede aplicarse en educación a todos los niveles, que incluye la educación médica, tanto para la formación, la investigación, la escritura de artículos científicos, la atención clínica y la medicina personalizada. Puede modificar la interacción entre médicos y pacientes para mejorar los estándares de calidad de la atención médica y la seguridad, por ejemplo, al sugerir medidas preventivas en un paciente que en ocasiones no son consideradas por el médico por múltiples causas. Los usos potenciales del ChatGPT en la educación médica, como una herramienta de ayuda en la redacción de artículos científicos, un asistente en la atención para pacientes y médicos para una práctica más personalizada, son algunas de las aplicaciones que se analizan en este artículo. Los aspectos éticos, originalidad, contenido inapropiado o incorrecto, citas incorrectas, ciberseguridad, alucinaciones y plagio son ejemplos de las situaciones a tomar en cuenta al usar las herramientas basadas en inteligencia artificial en medicina.
Abstract ChatGPT is a virtual assistant with artificial intelligence (AI) that uses natural language to communicate, i.e., it holds conversations as those that would take place with another human being. It can be applied at all educational levels, including medical education, where it can impact medical training, research, the writing of scientific articles, clinical care, and personalized medicine. It can modify interactions between physicians and patients and thus improve the standards of healthcare quality and safety, for example, by suggesting preventive measures in a patient that sometimes are not considered by the physician for multiple reasons. ChatGPT potential uses in medical education, as a tool to support the writing of scientific articles, as a medical care assistant for patients and doctors for a more personalized medical approach, are some of the applications discussed in this article. Ethical aspects, originality, inappropriate or incorrect content, incorrect citations, cybersecurity, hallucinations, and plagiarism are some examples of situations to be considered when using AI-based tools in medicine.
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A pesquisa em telemedicina possibilitou a captação de medidas fisiológicas para encontrar biomarcadores do comportamento humano durante o uso de smartphones chamados fenótipos digitais. A identificação e avaliação desses biomarcadores para diagnóstico da saúde fornece subsídios a uma área afim da telemedicina, a medicina de precisão. Foi desenvolvido um aplicativo para celular chamado Neuropesquisa, que possui recursos voltados a encontrar esses biomarcadores enquanto os usuários preenchem escalas psicológicas para saúde mental. O objetivo foi correlacionar mindfulness, ansiedade e tempo de reação e rastrear possíveis fenótipos digitais dessas pessoas. Realizou-se um estudo observacional, de delineamento correlacional, transversal e remoto com 364 adultos pelo Neuropesquisa. Foram encontradas correlações positivas e significativas entre mindfulness e tempo de reação, e negativas e significativas para ansiedade e tempo de reação. Concluiu-se que Neuropesquisa foi capaz de identificar fenótipos digitais dentre os constructos avaliados, de relevante importância para medicina de precisão e saúde mental.
Research in telemedicine has made it possible to capture regulatory measures to find biomarkers of human behavior during smartphone use called digital phenotypes. The identification and evaluation of these biomarkers for health diagnosis provide gains for an area related to telemedicine, precision medicine. It was developed a mobile application called Neuropesquisa, which has features to find these biomarkers while users complete psychological scales for mental health. The aim was to correlate mindfulness, anxiety and reaction time, and track possible digital phenotypes of users. This was an observational study, with a cross-sectional, correlational, and remote design with 364 adults, through Neuropesquisa. There were positive correlations between mindfulness and reaction time, and negative correlations between anxiety and reaction time. It was concluded that Neuropesquisa was able to identify digital phenotypes among the considered constructs, of relevant importance for precision medicine and mental health.
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RESUMEN El artículo se interroga por los alcances y los límites del paradigma de la medicina de precisión y su relación con el enfoque de la salud colectiva. Para ello, se toma la evaluación genética preimplantatoria o PGT (preimplantation genetic testing) dado que constituye un ejemplo paradigmático de tecnologías que apuntan a la "individualización" de los procesos de salud. En esta dirección, se revisan las características y los fundamentos científico-normativos acerca de las tecnologías PGT en Argentina, y el camino que queda por recorrer para su análisis bioético. De manera más específica, se visibilizan algunas de las condiciones de posibilidad para su implementación desde la perspectiva norte-sur. Como síntesis del análisis, proponemos tres ejes o nudos problemáticos relacionados con los sesgos en la producción de conocimiento, los valores e intereses subyacentes a sus usos y los presupuestos epistemológicos que operan en la base de estas tecnologías. A lo largo de este trabajo, presentamos estos dilemas y sugerimos algunas recomendaciones para ser tenidas en cuenta en futuras investigaciones.
ABSTRACT This article examines the scope and limitations of the precision medicine paradigm and its relationship with the collective health approach. To that end, it takes preimplantation genetic testing (PGT) as a paradigmatic example of technologies aimed at the "individualization" of health processes. In this regard, we review the characteristics and scientific and regulatory foundations of PGT technologies in Argentina, and discuss the next steps for their bioethical analysis. More specifically, we shed light on some of the conditions for their implementation from a north-south perspective. We propose three themes or problematic aspects as a synthesis of our analysis, related to biases in the production of knowledge, the values and interests underlying its uses, and the underlying epistemological assumptions of these technologies. Throughout the article, we review these dilemmas and suggest some issues that should be taken into account in future research.
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ABSTRACT Objective: To develop a Web App from a predictive model to estimate the risk of Intensive Care Unit (ICU) admission for patients with covid-19. Methods: An applied technological production research was carried out with the development of Streamlit using Python, considering the decision tree model that presented the best performance (AUC 0.668). Results: Based on the variables associated with Precision Nursing, Streamlit stratifies patients admitted to clinical units who are most likely to be admitted to the Intensive Care Unit, serving as a decision-making support tool for healthcare professionals. Final considerations: The performance of the model may have been influenced by the start of vaccination during the data collection period, however, the Web App via Streamlit proved to be a feasible tool for presenting research results, due to the ease of understanding by nurses and its potential for supporting clinical decision-making.
RESUMEN Objetivo: Desarrollar una Web App a partir de un modelo predictivo para estimar el riesgo de ingreso a la Unidad de Cuidados Intensivos (UCI) para pacientes con covid-19. Métodos: Se realizó una investigación de producción tecnológica aplicada con el desarrollo de Streamlit utilizando Python, considerando el modelo de árbol de decisiones que presentó el mejor rendimiento (AUC 0.668). Resultados: Basado en las variables asociadas con la Enfermería de Precisión, Streamlit estratifica a los pacientes ingresados en unidades clínicas que tienen más probabilidades de ser admitidos en la Unidad de Cuidados Intensivos, sirviendo como una herramienta de apoyo para la toma de decisiones para los profesionales de la salud. Consideraciones finales: El rendimiento del modelo puede haber sido influenciado por el inicio de la vacunación durante el período de recolección de datos. La Web App a través de Streamlit demostró ser una herramienta factible para presentar los resultados, debido a la facilidad de comprensión y su potencial para apoyar la toma de decisiones clínicas.
RESUMO Objetivo: Desenvolver um Web App a partir de um modelo preditivo para estimar o risco de internação de pacientes com covid-19 em UTI. Métodos: Realizou-se uma pesquisa aplicada de produção tecnológica com o desenvolvimento do Streamlit a partir do Python, considerando o modelo de árvore de decisão que apresentou o melhor desempenho (AUC 0.668). Resultados: A partir das variáveis associadas à Enfermagem de Precisão, o Streamlit estratifica os pacientes internados nas unidades clínicas com maior probabilidade de internação em Unidade de Terapia Intensiva, funcionando como uma ferramenta de apoio à tomada de decisão dos profissionais de saúde. Considerações finais: A performance do modelo pode ter sido influenciada pelo início da vacinação no período de coleta de dados, no entanto, o Web App via Streamlit mostrou-se uma ferramenta viável para a apresentação dos resultados de pesquisa, devido à facilidade de entendimento por parte dos enfermeiros e pelo potencial de apoio à decisão clínica.
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Recientes investigaciones han relacionado la microbiota intestinal con la salud humana en múltiples aspectos. La evolución de los estilos de vida ha determinado un cambio en la composición de las bacterias intestinales, así como la implicación que la comunidad de estas ejerce sobre la salud. Actualmente, se conoce que la mayoría de las bacterias presentes en el sistema gastrointestinal pertenecen principalmente a los fila Firmicutes y Bacterioidetes, aunque también se encuentran otros grupos tales como proteobacterias y actinobacterias. A medida que se avanza en el tracto gastrointestinal predominan algunos géneros de bacterias. Los efectos de la microbiota pueden ser directos e indirectos, además, dependen de muchos factores tales como la edad de la persona, el grupo etario, la genética del individuo, la dieta y el estilo de vida. Durante los últimos años, la accesibilidad a tecnologías de secuenciación ha permitido tener un acercamiento más estrecho a la microbiota intestinal. Esto, sumado a herramientas bioinformáticas, ha permitido establecer relaciones microbiales entre la cantidad y estructura poblacional y las manifestaciones clínicas en el ser humano. Algunas de las afecciones estudiadas y que tienen relación con la microbiota intestinal son: la obesidad, la diabetes, el cáncer, las enfermedades relacionadas con el cerebro, las enfermedades cardiovasculares y las enfermedades gastrointestinales. De acuerdo con lo mencionado, se hizo una recopilación de información de carácter científico en cuanto a estudios relevantes que describen la relación microbiota-salud humana y casos donde se observa compromiso del organismo, al mismo tiempo que se describen opciones terapéuticas propuestas y un abordaje de perspectivas futuras.
Recent research has linked gut microbiota to human health in multiple ways. The evolution of lifestyles has determined a change in the composition of intestinal bacteria, as well as the implications that they exert on health. Currently, it is known that most of the bacteria present in the gastrointestinal sector belong mainly to the phylum Firmicutes and Bacterioidetes, although there are also other groups such as proteobacteria and actinobacteria. As it progresses through the gastrointestinal tract, some genera of bacteria and species predominate. The effects of the microbiota can be direct and indirect, and also depend on many factors such as the age of the person, the age group, the individual's genetics, diet, and lifestyle. In recent years, accessibility to sequencing technologies has allowed for a closer approach to the intestinal microbiota. This, added to bioinformatic tools has allowed establishing microbial relationships in terms of quantity and population structure with clinical manifestations in humans. Some of the pathologies studied that are related to intestinal microbiota are obesity, diabetes, cancer, brain-related diseases, cardiovascular diseases, and gastrointestinal diseases. A compilation of scientific information is made regarding relevant studies that describe the microbiota-human health relationship, cases where the organism is affected, as well as proposed therapeutic options and an approach to future perspectives
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Microbioma Gastrointestinal , Probióticos , Prebióticos , MultiómicaRESUMEN
The incidence of bladder cancer is increasing annually, and the gold standard for its diagnosis relies on histopathological biopsy. Whole-slide digitization technology can produce thousands of high-resolution captured pathological images and has greatly promoted the development of digital pathology. Deep learning, as a new method of artificial intelligence, has achieved remarkable results in the analysis of pathological images for tumor diagnosis, molecular typing, and prediction of prognosis and recurrence of bladder cancer. Traditional pathology relies heavily on the professional level and experience of pathologists; as such, it is highly subjective and has poor reproducibility. Deep learning can automatically extract image features. It can also improve diagnostic efficiency and repeatability and reduce missed and misdiagnosed rates when used to assist pathologists in making decisions. This technology cannot only alleviate the pressure of the current shortage of skilled workforce and uneven medical resources but also promote the development of precision medicine. This article reviews the latest research progress and prospects of deep learning in pathological image analysis of bladder cancer.
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Lung cancer remains to have the highest morbidity and mortality rates in China among known malignant tumors. Novel drugs and regimens have been sought because of the limited efficiency of traditional chemotherapy and radiotherapy in lung cancer treatment. In the last 20 years, rapid developments in molecular targeted therapy and immunotherapy have increased clinical efficacy and benefitted patients with cancer. Treatments for lung cancer are the most rapidly developed among treatments for solid tumors, pioneering tumor precision medicine. This manuscript reviews the evolution and development of targeted therapy and immunotherapy and discusses existing problems and future directions in the precision therapy of lung cancer.
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Knowledge of an underlying genetic predisposition to cancer allows the use of personalised prognostic, preventive and therapeutic strategies for the patient and carries clinical implications for family members. Despite great progress, we identified six challenging areas in the management of patients with hereditary cancer predisposition syndromes and suggest recommendations to aid in their resolution. These include the potential for finding unexpected germline variants through somatic tumour testing, optimal risk management of patients with hereditary conditions involving moderate-penetrance genes, role of polygenic risk score in an under-represented Asian population, management of variants of uncertain significance, clinical trials in patients with germline pathogenic variants and technology in genetic counselling. Addressing these barriers will aid the next step forward in precision medicine in Singapore. All stakeholders in healthcare should be empowered with genetic knowledge to fully leverage the potential of novel genomic insights and implement them to provide better care for our patients.
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Humanos , Singapur , Genotipo , Neoplasias/terapia , Factores de Riesgo , FamiliaRESUMEN
Objective:To analyze the factors influencing the success rate of external cephalic version (ECV) and to create a preoperative scoring scale for stratified management of pregnant women who were preparing for ECV.Methods:This prospective study was conducted on singleton pregnant women who underwent ECV without anesthesia in Fujian Maternity and Child Health Hospital from January 1, 2017, to December 31, 2019. Univariate (two independent samples t-test, Mann-Whitney U test, and Chi-square test) and multivariate logistic regression were used to screen the clinical characteristics affecting the success of ECV, and receiver operating characteristic (ROC) curve was used to determine the cut-off value and convert quantitative variables into dichotomous variables. The independent variables were scored according to the regression coefficient in multivariate logistic regression analysis, and then a preoperative scoring scale was created. The ROC curve was used to calculate the cut-off value for the scoring scale. The subjects were divided into low and high score groups according to the cut-off value. The area under the ROC curve was used for evaluating the effectiveness of the scale in predicting the success of ECV. The success rate of ECV, difficulty of the operation and mode of delivery were compared between the two groups. Results:A total of 1 338 pregnant women met the inclusion criteria during the study period. After the exclusion of 885 women, 165 refused ECV in favor of direct cesarean section, 27 spontaneously converted to cephalic position before ECV, 261 who voluntarily accepted ECV were finally enrolled. ECV succeeded in 202 cases and failed in 59. (1) Favorable factors for ECV without anesthesia were the distance between the fetal breech and ischial spine <－3.5 cm ( OR=0.177, 95% CI: 0.071-0.438, P=0.009), the sum of the fundal height and the station of the fetal breech based on the ischial spine <30.25 cm ( OR=0.225, 95% CI: 0.094-0.537, P=0.001), amniotic fluid index ≥12 cm ( OR=0.399, 95% CI: 0.164-0.969, P=0.042), the surgeon's ability to hold the fetal head or breech with one hand ( OR=0.241, 95% CI: 0.098-0.589, P=0.002; OR=0.219, 95% CI: 0.087-0.546, P=0.001), and the fetal head located on the right or left upper abdomen of the mother ( OR=0.184, 95% CI: 0.059-0.568, P=0.003; OR=0.253, 95% CI: 0.084-0.760, P=0.014). (2) The area under the ROC curve of the preoperative score for predicting the success of ECV was 0.881 (95% CI: 0.821-0.941) and the cut-off value was 5.5. The subjects were divided into low (0-5 scores) and high (6-11 scores) score groups and the area under the ROC curve for predicting the success of ECV by grouping was 0.843 (95% CI: 0.774-0.912). Compared with the low score group, the high score group had a shorter ECV duration [2.0 min (0.5-10.0 min) vs 10.0 min (0.9-25.8 min), Z=－6.83, P<0.001], less attempts [1.0 times (1.0-4.0 times) vs 3.0 times (1.0-5.0 times), Z=－8.41, P<0.001], higher success rate [92.7% (190/205) vs 21.4% (12/56), χ2=127.64, P<0.001], higher rate of vaginal birth [75.4% (147/195) vs 18.5% (10/54)] and lower cesarean section rate [24.6% (48/195) vs 81.5% (44/54)] ( χ2=58.70, P<0.001). Conclusions:Preoperative scoring based on the factors influencing the success rate of ECV (the distance between the fetal breech and ischial spine, the sum of the fundal height and the station of the fetal breech based on the ischial spine <30.25 cm, amniotic fluid index ≥12 cm, the surgeon's ability to hold the fetal head or breech with one hand, and the fetal head locating on the right or left upper abdomen of the mother) is conducive to the individualized evaluation of the difficulty and the success rate of ECV as well as the success rate of vaginal delivery after ECV, which can provide a reference for clinical stratified management of ECV patients.
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Fabry disease is a X-linked inherited lysosomal storage disease. The pathogenesis is that mutations in the GLA gene lead to the decrease or lack of α-galactosidase A activity, followed by the accumulation of substrate and its intermediate metabolites in cells and tissues, eventually leading to multiple organ injury. The rise of specific treatment and gene technology pushes the application of precision medicine in patients with Fabry disease. As a milestone in the specific treatment of Fabry disease, enzyme replacement therapy can delay disease progression and improve quality of life, but not all carriers with GLA mutation need intervention immediately, and indeed individualized treatment is required. However, enzyme-enhanced therapy is only suitable for "amenable mutations" and has clinical application limitation. Therefore, new treatments such as substrate reduction therapy, second-generation enzyme replacement therapy, and gene therapy are already undergoing clinical trials, expected to bring new gospel to Fabry disease patients. This article will review development of precision treatment on Fabry disease, providing the basis of individualized treatment for the drug selection and prevention of side effect. The expectation is to drive future therapeutic strategies toward precision-based treatment.
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Parkinson′s disease is a common neurodegenerative disease with high clinical heterogeneity. With the development of precision medicine, numerous researches have been conducted on the pathological mechanism, clinical classification, diagnosis and treatment of Parkinson′s disease through multi-omics, bioformatics and molecular imaging. This article will elaborate the current practice and future research directions of precision medicine in the diagnosis and treatment of Parkinson′s disease.
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Since the implementation of surgery-based comprehensive treatment, there have been great advances and breakthroughs in the diagnosis and treatment of bone tumors. The survival rate of primary malignant bone tumors has significantly improved, for example, the 5-year survival rate of osteosarcoma has increased from 5%-20% to 60%-70%. Characteristics of bone tumors are as follows: (1) have a wide range of lesion sites; (2) various types; (3) high heterogeneity; (4) structural reconstruction is as important as functional reconstruction; (5) metastatic tumors are more common than primary tumors. Based on the characteristics above, the combination of clinical, imaging and pathology is the basic principle in the diagnosis of bone tumors; Following the principle of tumor resection to achieve local control, it is necessary not only to carry out effective reconstruction of bone and soft tissue structural defects, but also to obtain as perfect motor function as possible. Due to the development of genetic research, bioinformatics technology, digital medicine and computer technology, the diagnosis and treatment of bone tumors have entered the stage of precision medicine with four characteristics: accuracy, punctuality, sharing and individualization. Using the multi-omics technology of genomics, transcriptomics, proteomics and metabolomics to explore the mechanism of the occurrence and development of bone tumors and find new target genes provides a direction for the application of precision medicine in bone tumors in the future. The application of Wise Information Technology of med based on artificial intelligence is of great significance for the auxiliary diagnosis and precise treatment.
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Objective:To investigate the significance and importance of the interaction between surgeons and engineers during the preoperative planning phase of total knee arthroplasty (TKA) when utilizing patient-specific instrumentation (PSI).Methods:A retrospective review was conducted on 202 knees of PSI-assisted TKA performed on 178 patients between June 2018 and August 2022. The patients' mean age was 68.4±6.2 years, ranging from 53 to 86 years. Among the participants, there were 149 females and 29 males, 93 left knees and 109 right knees. The study involved 171 patients of osteoarthritis (193 knees) and 7 patients of rheumatoid arthritis (9 knees), with 194 knees presenting varus knees and 8 knees with valgus knees. The preoperative plan documents, from the initial engineer-designed plan to the final plan approved by the surgeon, were analyzed to assess the frequency, parameters, and reasons for adjustments made during the planning process.Results:The planning of the 202 PSI-assisted TKA was subjected to at least one round of surgeon-engineer interaction. Among the 202 TKA planning, 117 knees (57.9%) underwent modifications after discussion, with most plans (100 knees, 49.5%) being confirmed after one round of modification. Two rounds of modifications were performed on 10 knees (5.0%), and three rounds on 5 knees (2.5%). A maximum of four rounds of modifications were made on two knees (0.9%). Furthermore, in the case of the remaining 85 knees (42.1%), the surgeons promptly consented to the engineers' initial planning following the discussions. Specific adjustments were made in 106 knees (52.5%) regarding femoral parameters, 57 knees (28.2%) concerning tibial parameters, and 46 knees (22.8%) requiring adjustments to both femoral and tibial parameters. Notably, the most frequently adjusted parameter was the osteotomy thickness of the posterior femoral condyles, which was modified in 94 knees (80.3%). The reasons for adjusting femoral or tibial parameters were summarized, revealing the main factors as follows: 1) Discrepancy between the mediolateral and anteroposterior diameters of the femoral condyle; 2) Twisted deformity of the proximal tibia; 3) Severe flexion contracture deformity of the knee; 4) Collapse of the medial or lateral tibial plateau; 5) Evident anterior arch deformity of the femur.Conclusion:The interaction between surgeons and engineers plays a pivotal role in the preoperative phase of PSI-assisted TKA. Effective collaboration allows surgeons to accurately analyze the unique anatomical characteristics and pathological changes of each patient in a three-dimensional perspective, facilitating the formulation of individualized surgical plans.
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Intellectualization and precision are important directions of development and research highlights of orthopaedic surgery at present. The orthopaedic robot-assisted technology is gradually applied to various orthopaedic specialties. However the application of robot-assisted technology in bone tumor surgery started relatively late and the scenarios suitable for clinical application are relatively limited. By searching PubMed, Embase, ScienceDirect, CNKI and Wanfang database about the application of orthopaedic robot-assisted technology in the field of bone tumor surgery, we analyzed its intelligence and precision requirements, sorted and analyzed the current clinical application of orthopaedic robot in bone tumor surgery. The robot-assisted puncture biopsy of bone tumor could improve the accuracy and positive rate, especially for tumors with small size, deep location and complex local anatomical structure. For robot-assisted precise osteotomy for bone tumors, the accuracy and error analysis of manual osteotomy and robot-assisted osteotomy in the literatures were compared. The robot-assisted technology has the potential to improve the accuracy of tumor resection at complex anatomical structures such as sacrum and pelvic tumors. For the application of robot-assisted technology in spinal tumor surgery, literature reports suggested that it can improve the accuracy of pedicle screw placement and the safety of minimally invasive vertebroplasty, and can be used for minimally invasive precise surgical resection of spinal tumors. At the same time, the existing problems and development directions were analyzed, such as cost-effectiveness, accuracy of registration, soft tissue recognition and feedback, error superposition and error correction, so as to provide reference basis for further clinical application and study.
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Chronic obstructive pulmonary disease (COPD) is a heterogeneous chronic respiratory disease characterized by persistent respiratory symptoms, airflow limitations, and local and systemic inflammation. In the past 20 years, Precision medicine has been continuously integrated into the individualized management of COPD, bringing benefits to patients. With a deeper understanding of specific biomarkers and more treatable features of chronic obstructive pulmonary disease, its application prospects are broad.
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Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous chronic Respiratory disease. In the past 20 years, precision medicine has gradually integrated into the management of COPD. At present, individualized treatment is mainly based on its symptoms, acute exacerbation risk and eosinophil count. In the future, with the development of risk factors and their pathophysiology, quantitative imaging technology, biomarkers and gene analysis, precision medicine will have further development in the management of COPD treatment.
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Corneal refractive surgery is widely used to correct myopia and astigmatism because of its safety, effectiveness and stability.Precision medicine is the future direction of development, and the demands for accuracy in corneal refractive surgery are also increasing, which has a direct impact on patient satisfaction.Nomogram, as a key design in refractive surgery, needs to be combined with several important predictors to quantify individual risk.Different surgical methods need different nomograms.In this paper, the effects of corneal surface surgery, lamellar surgery, modeling algorithm and possible factors such as patient's sex, age, expected correction, corneal curvature, preoperative spherical equivalent, etc.on the predicted values were discussed.At the same time, the application of nomograms in corneal refractive surgery at home and abroad in recent years and the research progress of nomogram influencing factors were explored, in order to provide more and more accurate reference for clinical practice, to improve the accuracy of corneal refractive surgery and help patients achieve satisfactory postoperative visual quality.