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Resumen El feocromocitoma es un tumor derivado de las células de la cresta neural con la capacidad de producir sustancias simpaticomiméticas y, por ende, un cuadro clínico particular. Causa menos del 1 % de los casos de hipertensión arterial sistémica y su incidencia se estima entre 0,4 y 0,6 casos por 100.000 personas cada año, con una supervivencia media de siete años. De todos los tumores sólidos, el feocromocitoma tiene un mayor componente genético, que puede heredarse hasta en el 40 % de los casos. Una vez diagnosticada la enfermedad, se debe definir el tratamiento y el pronóstico, en parte condicionados por las variantes genéticas asociadas, en especial RET, SDHx, VHL y NF1. Se presenta el caso de una mujer joven con dolor abdominal e hipertensión arterial sistémica, a quien se le diagnosticó feocromocitoma. Al secuenciar el exoma, se identificó una variante patogénica extremadamente rara y de reciente descubrimiento: SDHA: c.1A>C (p.Met1Leu). La paciente respondió adecuadamente al tratamiento quirúrgico y continuó en seguimiento sin recurrencias. El abordaje diagnóstico de los pacientes con feocromocitoma comienza con la sospecha clínica, seguida de la medición de determinados metabolitos en sangre y orina, y, finalmente, los estudios de imagenología. Los desarrollos tecnológicos actuales permiten la aplicación de la medicina de precisión en este campo. En este caso de feocromocitoma, se identificó un componente genético importante que no solo afecta al paciente, sino también, a sus familiares. La tamización adecuada del caso índice permite identificar mutaciones y caracterizar mejor la enfermedad.
Abstract Pheochromocytoma is a tumor derived from neural crest cells able to produce sympathomimetic substances and, hence, a particular clinical picture. It is responsible for less than 1% of high blood pressure cases, with an estimated incidence between 0.4 and 0.6 cases per 100,000 people each year, and an average survival of seven years. Pheochromocytoma is a solid tumor with a high genetic component, as heritability can reach 40%. Once diagnosed, its treatment and prognosis are partly conditioned by the associated pathogenic variants that can be documented, especially those related to RET, SDHx, VHL, and NF1 genes. We present the case of a young woman with abdominal pain and high blood pressure, who was found to have a pheochromocytoma. Genetic testing detected a rare and recently discovered pathogenic variant: the SDHA:c.1A>C (p.Met1Leu). The patient responded adequately to the surgical treatment and continued the follow-up without documented recurrences. The diagnostic approach for pheochromocytoma patients must start with a clinical suspicion, followed by metabolite measurement in blood and urine, and finally, imaging. Currently, technology development allows precision medicine applicability. In this case of pheochromocytoma, recent developments in precision medicine resulted in the detection of associated genetic components involving the patient and her family. Adequate screening of the index patient is required for documenting pathogenic variants and better characterizing the disease.
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The incidence of food allergy is annually increasing that brings a heavy burden to patients, their families and the society.In recent years, precise treatment of food allergy by clarifying the clinical phenotype, endotype and biomarkers of the disease has become an emerging approach.This review summarizes advances in precise diagnosis and treatment of food allergy.
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Organoids are the three-dimensional culture of adult stem cells or pluripotent stem cells in vitro to form tissue analogs with specific structures,which have highly similar tissue properties and physiological functions to the corresponding organs.The emergence of organoid technology has laid an important foundation for research in organ development,disease modeling and drug discovery.Tumor organoid,as an important branch of organoids,is a transition between cell lines and animal models,which can well retain the histological and mutational characteristics of tumors in patients and play an essential role in building tumor organoid sample libraries,reconstructing tumor microenvironment,studying the tumor development mechanism as well as formulating personalized treatment plans and drug screening.Tumor organoids help clinicians to realize precise treatment for patients.However,some factors still limit the further development of tumor organoids,such as the lack of microenvironmental components,vascular structure,high culture cost and technical difficulties.In this review,we summarize the applications and challenges of organoid technology in basic tumor research and clinical translation and look forward to the future development of tumor organoids.
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BACKGROUND:Currently,the verification of the precision of personalized bone models is usually performed by methods such as paired t-tests or intraclass correlation coefficient,but such methods often require the production of large batches of models,which do not satisfy the need for immediate use of personalized models. OBJECTIVE:To study the feasibility of establishing the equivalent model to verify the precision of the personalized bone model rapidly. METHODS:Bone CT images of three adults were randomly obtained for reconstruction.3D printing was used to create personalized bone models,and then the personalized bone models were scanned using CT and reconstructed.Mimics was used to compare the reconstructed models of bone CT images with the bone CT images.Geomagic Studio was used to analyze the fitting deviation between the reconstruction model of personalized bone model CT image and the reconstruction model of skeletal CT image.The 3D-printed personalized bone model was measured against the measurement positions and dimensions marked on the reconstruction model of skeletal CT image,and the error was calculated. RESULTS AND CONCLUSION:(1)By comparing the reconstructed bone CT image model with the bone CT scan image,the two were compatible in terms of anatomical structure and morphology,and the contours almost overlapped.(2)By fitting bias analysis,the standard bias was 0.176,0.226,and 0.143 mm in order,and all the results were<0.25 mm.(3)By measuring and calculating the model,the mean relative errors were 0.44%,0.21%,and 0.13%,and all the results were within 5%error.(4)The constructed equivalent model was in line with the basic conditions for making personalized bone models.The established equivalent model met the clinical needs and design requirements,and it was feasible to use the method of the equivalent model to verify the precision of the personalized bone model quickly.(5)This method could provide a targeted and rapid way to verify the precision of personalized bone models.It could achieve the goal of providing immediate clinical use without the need to produce large batches of models compared to conventional methods such as paired t-tests or intraclass correlation coefficient.
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BACKGROUND:How to improve the accuracy of puncture,reduce surgical damage,and improve surgical efficiency during vertebroplasty is currently one of the focuses of exploration and improvement in vertebroplasty techniques. OBJECTIVE:To explore the clinical significance of application of mixed reality technology in percutaneous vertebroplasty for spinal fractures. METHODS:Two patients with osteoporotic vertebral compression fracture in Dalian Second People's Hospital in June 2023 were selected.Before operation,128-row CT scanning of the lumbar spine was performed and the original data of digital imaging and communications in medicine(DICOM)were obtained.Visual Volume software was used to build the three-dimensional network model of vertebral compression fracture.Holographic imaging glasses were used to accurately map 3D network model images to the real world,assist the surgeon in completing preoperative simulation,explaining preoperative conditions and treatment plans,and guiding puncture and bone cement injection during surgery. RESULTS AND CONCLUSION:(1)Precise puncture was achieved with the assistance of a mixed reality technology.Postoperative imaging examination showed good bone cement filling and no obvious leakage.The postoperative symptoms of the patient were alleviated well,and they were able to move to the ground on the same day after surgery.(2)It is concluded that a mixed reality technology is helpful for preoperative surgical design and communication efficiency with patients and their families.Assisting with precise puncture during surgery,shortening surgical time,and reducing side injuries is a new and effective clinical diagnosis and treatment model,which has development potential in minimally invasive,precise,and personalized treatment of spinal surgery.
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BACKGROUND:Lung cancer is one of the most common malignant tumors with the worst prognosis worldwide.Its incidence rate and mortality rate have long been among the top of malignant tumors.The heterogeneity and drug resistance are among the reasons contributing to its poor prognosis.Lung cancer organoid,which is a 3D in vitro model cultured from patient-derived tumor cells recapitulating the biological characteristics of the primary tumor,can be used for various researches of lung cancer. OBJECTIVE:To review the application and research progress of lung cancer organoids in chemotherapy,targeted therapy,and immunotherapy drug sensitivity screening,analyze its limitations,aiming to provide new strategies for personalized and precision medicine of lung cancer. METHODS:The first author searched relevant articles published from 2013 to 2023 in CNKI and PubMed in July 2023.The search terms were"organoid,lung cancer organoid,lung cancer experimental model,precision medicine,drug sensitivity test,chemotherapy,targeted therapy,immunotherapy"in Chinese and English.Finally,a total of 84 articles were incorporated. RESULTS AND CONCLUSION:(1)Compared with traditional lung cancer research models,which can only demonstrate two-dimensional cell activities,lack cell-to-cell interactions,and suffer from species differences,lung cancer organoids offer a diverse cell source and continuously optimized culture conditions.They can simulate cellular interactions in a three-dimensional context while retaining the biological characteristics of the original tumor.These organoids represent a promising research model with significant potential,providing a solid foundation for their use in cancer drug screening.(2)Lung cancer organoids have shown preliminary significance in guiding anticancer drug selection.Their predictive outcomes align closely with actual clinical outcomes,marking a pivotal step towards precision in lung cancer treatment.By assessing the efficacy of common chemotherapy,targeted therapy,and immunotherapy drugs,these organoids enable the customization of individualized treatment strategies,reducing unnecessary drug trials and toxic and side reaction while exploring possible alternative drugs or combination regimens for drug resistance issues so as to guide the precision treatment of rare mutated lung cancer and fill the clinical gap.A more comprehensive drug evaluation is provided by comparing the activity of different drugs.Additionally,it is essential to consider the internal heterogeneity of organoids,emphasizing the importance of multiple sampling to enhance result accuracy.(3)Lung cancer organoids have limitations in practical applications such as inconsistent success rates and purity in cultivation and the lack of vascular tissue.To address these shortcomings,improvements are needed in cultivation conditions,expedited testing processes,and the development of multi-organ systems to simulate the overall effects of drugs in multiple organs.These enhancements will contribute to a more accurate assessment of drug efficacy and toxicity,thereby enhancing the precision of lung cancer treatment.
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Objective:To study the technological roadmap of integrated development of digestive tract endoscopy and artificial intelligence precision medicine,and to provide research directions and feasible technological paths for the"overtaking on a curve"of domestic gastrointestinal endoscopy.Methods:The Delphi method was used to investigate the needs and research directions for the refinement of gastrointestinal endoscopy from the perspective of medical professionals.An analysis of development directions of artificial intelligence precision medical technology based on technical documents on artificial intelligence precision medical technology was conducted.The application scenarios and technology roadmap of early gastric cancer and inflammatory bowel disease patients were designed from four main service directions of precise diagnosis,precise treatment,precise medication,and precise health management of artificial intelligence precision medicine.Results:Two refined application scenarios were designed for precise diagnosis of early gastric cancer and precise health management of inflammatory bowel disease patients,the layout direction and feasible path were planned for the development of the new gastrointestinal endoscopy industry,and a technology roadmap for the development of intelligent gastrointestinal endoscopy industrywas formed.Conclusion:The technology roadmap for the integrated development of gastrointestinal endoscopy with artificial intelligence precision medicine provides a sustainable development path for addressing the patent blockade of foreign gastrointestinal endoscopy companies on domestic products,uneven distribution of medical resources in the field of gastroenterology,and early diagnosis and treatment of digestive system diseases.
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Extended reality (XR) includes a variety of visualisation technologies such as virtual reality, augmented reality, and mixed reality. It refers to a combination of the real and the virtual entities through computers to create a virtual environment where human and computer can interact, characterized by immersion, interactivity, conceptualization, and combination of reality and fiction. Recently, great progress has been made in the application of XR in the fields of medical education, precision medicine, telemedicine, surgical assistance and navigation so that XR has drawn increasing attention. This paper briefly describes the concept of XR and its technological development, expounds its clinical application in orthopedics, surgery in particular, analyzes the existing problems and difficulties, and predicts its future development trend. This review may help readers gain a more comprehensive and in-depth understanding of the history, current status and future development of intelligent orthopaedics based on XR technology.
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Theranostics in nuclear medicine is an important direction for the precision medicine. Radionuclide therapy based on small molecules/peptides often requires high doses. Improving the utilization efficiency of radionuclides, optimizing the pharmacokinetics of radionuclide therapeutic molecular probes as well as increasing the target to non-target ratio have become the international hot frontiers in the field of radiotheranostics. Evans blue (EB) motif uses endogenous albumin as a reversible carrier, and the small molecule and polypeptide structure modified based on EB can effectively extend the half-life in the blood and substantially increase the uptake, accumulation and retention of radiopharmaceuticals in target lesions, and thereby enhance the therapeutic effect and reduce the dosage of nuclides. This article focuses on the research of EB modified radiopharmaceuticals for theranostics.
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Three-dimensional (3D) printing, also known as additive manufacturing, is a fabrication technology that constructs three-dimensional objects by successive addition of materials. In recent years, the advancements in 3D printing technology, reductions in material costs, development of biomaterials, and improvements in cell culture techniques allow the application of 3D printing in the clinical medical fields, such as orthopedics, dentistry, and urinary surgery, to develop rapidly. Obstetrics, focusing on both theory and practice, is an emerging application field for 3D printing technology. 3D printing has been used in obstetrics for fetal and maternal diseases, such as prenatal diagnosis of fetal abnormalities and preoperative planning for placental implantation disorders. Additionally, 3D printing can simulate surgical scenarios and enable the targeted training for doctors. This review aims to provide a summary of the latest developments in the clinical application of 3D printing in obstetrics.
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Placenta accreta spectrum (PAS) disorders are one of the important causes of adverse pregnancy outcomes. Some studies reported that the limitations in commonly used auxiliary examination methods led to missed or misdiagnosis, resulting in adverse pregnancy outcomes. Digital three-dimensional (3D) reconstruction is the 3D graphical visualization constructed on the original data to illustrate the spatial relationship between structures, overcoming the limitations of two-dimensional images. As a novel auxiliary diagnostic tool, digital 3D reconstruction provides promising insights into the development of personalized precision medicine. This article reviews the research and application of ultrasound and MRI 3D reconstruction in the field of PAS.
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Lung cancer, the second most prevalent cancer in the world with a persistently high mortality rate, threatens the life and health of all humanity. With the development of clinical trials, the treatment options for lung cancer have been enriched, and the understanding of the timing of intervention has become more explicit than before. Thus, the prognosis of lung cancer has significantly improved. However, unmet clinical needs still exist. This review provides the global trend of clinical research in lung cancer treatment and describes the evolution of clinical trials in terms of design, implementation, and regulation. The change in study endpoints is conducive to shortening the research and development cycle and accelerating the launch of drugs. The refinement of study populations and therapeutic targets facilitates the realization of the maximum efficacy of precision treatment. The integration of comprehensive and diversified therapeutic strategies and the combination of prevention and treatment further promote the improvement of survival and the alleviation of social burden. This review also proposes a prospective direction for future development of clinical research in lung cancer.
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In June 2017， National Health Commission of the People’s Republic of China released Guidelines for the diagnosis and treatment of primary liver cancer （2017 edition）， which provided important recommendations for the diagnosis， staging， and treatment of liver cancer. Since then， high-level evidence in line with the principles of evidence-based medicine has been continuously obtained from the research on primary liver cancer in China and globally. Therefore， National Health Commission released Guidelines for the diagnosis and treatment of primary liver cancer （2024 edition）. This article gives an interpretation of the updated key points in the guidelines， in order to better guide clinical practice.
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Organoids,recognized as invaluable models in tumor and stem cell research,assume a pivotal role in the meticulous analysis of diverse datasets pertaining to their growth dynamics,drug screening processes and related phenomena.However,the manual scrutiny and conventional statistical methodologies employed in handling organoid data often grapple with challenges such as diminished precision and efficiency,heightened complexity,escalated human resource requirements,and a degree of subjectivity.Acknowledging the remarkable efficacy of artificial intelligence(AI)in the realms of biology and medicine,the incorporation of AI into organoid research stands poised to enhance the objectivity,precision and expediency of analyses.This integration empowers organoids to more effectively fulfill objectives such as disease modeling,drug screening and precision medicine.Notably,significant strides have been made in AI-driven analyses of organoid image data.The amalgamation of deep learning into image analysis facilitates a more meticulous delineation of the microstructural intricacies and nuanced changes within organoids,achieving a level of accuracy akin to that of experts.This not only elevates the precision of organoid morphology and growth recognition,but also contributes to substantial time and cost savings in research endeavors.Furthermore,the infusion of AI technology has yielded breakthroughs in the processing of organoid omics data,resulting in heightened efficiency in data processing and the identification of latent gene expression patterns.This furnishes novel tools for comprehending cellular development and unraveling the intricate mechanisms underlying various diseases.In addition to image data,AI techniques applied to diverse organoid datasets,encompassing electrical signals and spectra,have realized an unbiased classification of organoid types and states,embarking on a comprehensive journey towards characterizing organoids holistically.In the pivotal domain of drug screening for organoids,AI emerges as a stalwart companion,providing robust support for real-time process monitoring and result prediction.Leveraging high-content microscopy images and sophisticated deep learning models,researchers can dynamically monitor organoid responses to drugs,effecting non-invasive detection of drug impacts and amplifying the precision and efficiency of drug screening processes.Despite the significant strides made by AI in organoid research,challenges persist,encompassing hurdles in data acquisition,constraints in sample quality and quantity,and quandaries associated with model interpretability.Overcoming these challenges necessitates dedicated future research efforts aimed at enhancing data consistency,fortifying model interpretability,and exploring methodologies for the seamless fusion of multimodal data.Such endeavors are poised to usher in a more comprehensive and dependable application of AI in organoid research.In summation,the integration of AI technology introduces unparalleled opportunities to organoid research,resulting in noteworthy advancements.Nevertheless,interdisciplinary research and collaborative efforts remain imperative to navigate challenges and propel the more profound integration of AI into organoid research.The future holds promise for AI to assume an even more prominent role in advancing organoid research toward clinical translation and precision medicine.
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Resumo As complexidades referidas na busca pela "exatidão" no diagnóstico da fibrose cística (FC) apontam para reflexões em torno de "o que é preciso" na atual conjuntura da "medicina de precisão". Analisamos os discursos de 19 atores sociais pertencentes à comunidade de especialistas na fibrose cística, explorando as acepções semânticas do vocábulo "precisão" e as barreiras ao diagnóstico e às inovações na terapêutica. Adotamos a análise crítica do discurso de Norman Fairclough a fim de alcançar as construções discursivas em torno da integralidade do cuidado, da garantia e oferta equitativa dos básicos sociais. O acesso foi identificado como categoria êmica quando nas arenas sociais de disputa estão as necessidades de saúde e o direito à vida.
Abstract The complexities referred to in the search for "accuracy" in the diagnosis of cystic fibrosis (CF) point to reflections around "what is needed" in the current situation of "precision medicine". We analyzed the discourses of 19 social actors belonging to the community of specialists in cystic fibrosis, exploring the semantic meanings of the word "precision", and the barriers to diagnosis and innovations in therapeutics. We adopted the critical discourse analysis (CDA) of Norman Fairclough in order to achieve the discursive constructions around the integrality of care, the guarantee and equitable supply of basic social needs. Access was identified as an emic category when in the social arenas of dispute are health needs and the right to life.
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Resumo Na fibrose cística, a identificação da variabilidade genética (mutações) da CFTR - a qual difere quanto a síntese, tráfego, estabilidade e função da proteína e suas implicações na disfuncionalidade do gene - é a principal base para o desenvolvimento dos medicamentos moduladores e inovações na terapêutica. Tais inovações prometem um aumento da expectativa de vida com qualidade na era da biomedicina high tech. O argumento deste artigo se funda na ideia de que o poder-saber pelo conhecer da mutação fomenta a construção da identidade no "eu genético". Metodologicamente, assume-se a Análise Crítica dos Discursos (ACD), interessada nas formações discursivas dos atores sociais, como uma comunidade de especialistas com vinculações diversas no campo da fibrose cística. Discute-se o quanto posições sócio-históricas e culturais, em correspondência com as práticas sociais, veiculam a centralidade do debate do direito à vida na era da medicina de precisão. A experiência compartilhada da FC, como uma condição de saúde rara, aponta para o (res)significar da cidadania em torno do bios.
Abstract In cystic fibrosis, the identification of genetic variability (mutations) of CFTR - which differs in terms of protein synthesis, trafficking, stability, and function and its implications for gene dysfunction - is the main basis for the development of modulating drugs and innovations in therapy. Such innovations promise an increase in quality life expectancy in the era of high-tech biomedicine. The argument of this article is based on the idea that power-knowledge through knowledge of mutation fosters the construction of identity in the "genetic self". Methodologically, we assume Critical Discourse Analysis (CDA), interested in the discursive formations of social actors, as a community of experts with diverse links in the field of cystic fibrosis. We discuss how socio-historical and cultural positions, in correspondence with social practices, convey the centrality of the debate on the right to life in the era of precision medicine. The shared experience of CF, as a rare health condition, points to the (re)signification of citizenship around the bios.
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Resumo Na infância e adolescência, as miocardiopatias apresentam características próprias e são uma importante causa de insuficiência cardíaca, arritmias, morte súbita e indicação de transplante cardíaco. O diagnóstico é um desafio na prática diária devido à sua apresentação clínica variada, etiologias heterogêneas e conhecimento limitado das ferramentas de genética clínica e molecular. Entretanto, é fundamental reconhecer os diferentes fenótipos e priorizar a busca pela etiologia. Os avanços recentes na medicina de precisão tornaram o diagnóstico molecular mais acessível, permitindo individualizar condutas terapêuticas, estratificar o prognóstico e identificar indivíduos da família que estejam em risco de desenvolver doença. O objetivo desta revisão é enfatizar as particularidades das miocardiopatias na pediatria e como o enfoque individualizado influencia a terapêutica e o prognóstico do paciente. Através de uma abordagem sistematizada, o protocolo é apresentado em cinco etapas em nosso serviço. Estas etapas incluem a avaliação clínica para determinação do fenótipo morfofuncional, identificação da etiologia, classificação, estabelecimento do prognóstico e busca por terapias personalizadas.
Abstract In childhood and adolescence, cardiomyopathies have their own characteristics and are an important cause of heart failure, arrhythmias, sudden death, and indication for heart transplantation. Diagnosis is a challenge in daily practice due to its varied clinical presentation, heterogeneous etiologies, and limited knowledge of tools related to clinical and molecular genetics. However, it is essential to recognize the different phenotypes and prioritize the search for the etiology. Recent advances in precision medicine have made molecular diagnosis accessible, which makes it possible to individualize therapeutic approaches, stratify the prognosis, and identify individuals in the family who are at risk of developing the disease. The objective of this review is to emphasize the particularities of cardiomyopathies in pediatrics and how the individualized approach impacts the therapy and prognosis of the patient. Through a systematized approach, the five-stage protocol used in our service is presented. These stages bring together clinical evaluation for determining the morphofunctional phenotype, identification of etiology, classification, establishment of prognosis, and the search for personalized therapies.
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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.