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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 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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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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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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Metabolomics technology played an important role in the field of biomedical research, such as disease diagnosis, pathogenesis analysis, drug target exploration, formulation of treatment guidelines, etc. Due to the systematic and holistic characteristics of metabolomics research, it has shown certain advantages in the analysis of the basis of pharmacodynamic substances of traditional Chinese medicines and the development of new medicines from traditional Chinese medicines. With the continuous innovation of metabolomics research, many advanced technologies have been developed, which make up for the shortcomings of conventional metabolomics studies in searching for disease targets, identifying functional compounds and interpreting biological significance. Furthermore, the rapid development of metabolomics technology has created new opportunities for the diagnosis of diseases and the development of new drugs in traditional Chinese medicine. Herein, different from conventional metabolomics techniques and methods, nine new metabolomics technologies with wide application prospects in the past 10 years were reviewed from the perspective of new tools, new ideas and new samples, with a view to providing new insights on relevant metabolomics research in the biomedical field and providing new motivation for innovation and development of metabolomics technologies.
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It has been noted for decades that cancer is essentially a genomic disease. Benefiting from the latest development of high-throughput sequencing and bioinformatics technologies, a variety of genetic alterations have been identified for their roles in cancer occurrence and development, giving rise to new opportunities for anti-cancer drug discovery. In particular, the rapid advancement of cancer genomics has paved the way for the precision medicine that has gained compelling achievement in the past years and significantly benefited cancer patients. In this review, we summarize the main types of genomic abnormalities in cancer, the application of functional genomics research in cancer research, and in particular the translational application of cancer genomics in clinical diagnosis, drug discovery and cancer precision medicine. With this review, we hope to better understand cancer genomics research and provide future perspectives for its application in precision medicine.
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@#Artificial intelligence (AI) has developed rapidly in the twentieth century, and has substantialy changed the modern way of life.At the same time, AI has greatly contributed to the development of the pharmaceutical industry, playing a key role in precision medicine, intelligent diagnosis, computer-aided drug design, and clinical trial decision-making, and has also greatly developed itself through its integration with the pharmaceutical industry.This paper outlines the key issues in research, describes the key applications of AI in the health and pharmaceutical industries, and finally analyzes the opportunities and challenges of AI in the health pharmaceutical industry to provide reference for the development of AI in the health and pharmaceutical fields.
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@#The umbrella trial has received increasing attention in the design of clinical trials for oncology drugs in recent years. This trial design categorizes a single disease into multiple sub-types based on predictive biomarkers or other predictive factors, and simultaneously evaluates the efficacy of multiple targeted therapies. When compared with the traditional drug development model of phase Ⅰ, phaseⅡ, and phase Ⅲ randomized controlled trials, umbrella trials are a more scientifically rigorous trial design that can speed up drug evaluation to address the conflict between numerous untested drugs and diseases with a lack of effective treatment options. This article will focus on the concept, main characteristics, eligibility criteria, design and statistical considerations, ethical considerations, and future directions of umbrella trials, with the aim of providing methodological guidance for the design of clinical trials for oncology drugs.
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@#Along with the popularity of low-dose computed tomography lung cancer screening, an increasing number of early-stage lung cancers are detected. Radical lobectomy with systematic nodal dissection (SND) remains the standard-of-care for operable lung cancer patients. However, whether SND should be performed on non-metastatic lymph nodes remains controversy. Unnecessary lymph node dissection can increase the difficulty of surgery while also causing additional surgical damage. In addition, non-metastatic lymph nodes have been recently reported to play a key role in immunotherapy. How to reduce the surgical damage of mediastinal lymph node dissection for early-stage lung cancer patients is pivotal for modern concept of "minimally invasive surgery for lung cancer 3.0". The selective mediastinal lymph node dissection strategy aims to dissect lymph nodes with tumor metastasis while preserving normal mediastinal lymph nodes. Previous studies have shown that combination of specific tumor segment site, radiology and intraoperative frozen pathology characteristics can accurately predict the pattern of mediastinal lymph node metastasis. The personalized selective mediastinal lymph node dissection strategy formed from this has been successfully validated in a recent prospective clinical trial, providing an important basis for early-stage lung cancer patients to receive more personalized selective lymph node dissection with "precision surgery" strategies.
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Objective:To explore the effect of mixed reality (MR) application in the reconstruction of mandibular defects.Methods:Eighteen patients with mandibular defects were enrolled in this study, including 10 male patients and 8 female patients, whose age ranged from 27 to 45 years, and the mean age was 35.4 years. All the patients were from the Stomatological Hospital of the Fourth Military Medical University, during October 2019 to May 2021. Fibular flaps were used for the reconstruction of the mandibular defects. The patients were randomly divided into three groups, six in each group. In group one, MR-guided mandibular defect repair and reconstruction technique was used. In group two, 3D printed guide-assisted mandibular defect repair and reconstruction technique was used, and in the control group, traditional jaw defect repair and reconstruction technique was used. All the procedures were performed by the same team. Cone beam computed tomography (CBCT) was used for analysis of surgical accuracy, and questionnaires were used to evaluate the outcome of medical communication, occlusal relationship, appearance restoration, and medical experience satisfaction.Results:The mean surgical errors in the group one and group two were (1.75±0.44) mm and (1.81±0.16) mm respectively, which were both significantly lower than that in the control group (3.05±0.83) mm ( tMR=3.38, t3D=3.56, P<0.01). The medical communication (4.60±0.35, 4.52±0.28, tMR=2.90, t3D=2.77, P<0.05), occlusal relationship (4.17±0.32, 4.28±0.39, tMR=3.07, t3D=3.29, P<0.05), and medical experience satisfaction scores (4.26±0.45, 4.25±0.67, tMR=2.50, t3D=2.26, P<0.05) in the experimental groups were significantly higher than those in the control group (4.02±0.34, 3.58±0.33, 3.56±0.32, respectively). There was no significant difference in the satisfaction of appearance recovery among all the groups ( P>0.05). Conclusions:MR-guided mandibular repair and reconstruction surgery has high accuracy and is also beneficial to the recovery of occlusal relationship and medical communication.
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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.
RESUMO
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.