Actuales retos diagnósticos genómicos en los Síndromes Hemofagocíticos en pediatría: reporte de caso

Introducción: La linfohistiocitosis hemofagocítica familiar (FHL) es una enfermedad del sistema autoinmune que se presenta con un síndrome inflamatorio excesivo causado por linfocitos T activados e histiocitosis. Cursa con herencia autosómica recesiva ligada al cromosoma X. Aproximadamente el 90% de los niños diagnosticados son menores de 2 años y la incidencia es de aproximadamente 0.12 por 100.000. Se puede dividir en cinco subtipos según la variante genética causante. Las variantes patogénicas más involucradas son en los genes de la perforina 1 (PRF1) y homólogo D de la proteína UNC-13 (UNC13D). Caso clínico: Se presenta el caso de un preadolescente de 11 años, con antecedente de infecciones recurrentes, quien cursa con síndrome convulsivo asociado a fiebre, peso y talla bajas para la edad, hepatomegalia y discapacidad cognitiva. En el abordaje inicial se descartan enfermedades infecciosas, inmunológicas, hematológicas, metabólicas y oncológicas. El exoma clínico para inmunodeficiencias primarias muestra una variante patogénica p.A91V homocigota en el gen de la PRF1 de herencia autosómica recesiva, resultado relacionado con linfohistiocitosis hemofagocítica familiar tipo 2 (FHL2). Discusión y conclusión: El cambio conformacional del PRF1 alterado reduce la actividad citotóxica de la proteína y provoca la enfermedad. Los pacientes portadores de defectos en el gen PRF1 son vulnerables a infecciones, enfermedades autoinmunes y tumores malignos. Con un diagnóstico definido y preciso es posible orientar las acciones en salud, pautas de seguimiento, evaluación de riesgo de heredabilidad a través de un caso índice para así encontrar otros posibles portadores, realizar un asesoramiento genético completo, implementar e iniciar tratamientos dirigidos que aminoren la morbilidad y mortalidad asociada a esta patología. Actualmente se cuenta con varios estudios en diferentes fases de investigación sobre moléculas que pueden intervenir en la historia natural de la enfermedad. (provisto por Infomedic International)

Introduction: Familial hemophagocytic lymphohistiocytosis (FHL) is a disease of the autoimmune system that presents with an excessive inflammatory syndrome caused by activated T lymphocytes and histiocytosis. It occurs with autosomal recessive inheritance linked to the chromosome X. Approximately 90% of diagnosed children are under 2 years of age and the incidence is approximately 0.12 per 100,000. It can be divided into five subtypes depending on the causative genetic variant. The most involved pathogenic variants are in the perforin 1 (PRF1) and UNC-13 protein homolog D (UNC13D) genes. Clinical case: The case of an 11-year-old preadolescent is presented, with a history of recurrent infections, who presents with convulsive syndrome associated with fever, low weight and height for age, hepatomegaly and cognitive disability. In the initial approach, infectious, immunological, hematological, metabolic and oncological diseases are ruled out. The clinical exome for primary immunodeficiencies shows a homozygous pathogenic variant p.A91V in the PRF1 gene of autosomal recessive inheritance, a result related to familial hemophagocytic lymphohistiocytosis type 2 (FHL2). Discussion and conclusion: The altered PRF1 conformational change reduces the cytotoxic activity of the protein and causes disease. Patients carrying defects in the PRF1 gene are vulnerable to infections, autoimmune diseases and malignant tumors. With a defined and precise diagnosis, it is possible to guide health actions, follow-up guidelines, evaluation of heritability risk through an index case in order to find other possible carriers, carry out complete genetic counseling, implement and initiate targeted treatments that reduce the morbidity and mortality associated with this pathology. Currently, there are several studies in different phases of research on molecules that may intervene in the natural history of the disease. (provided by Infomedic International)

Rare Genetic Kidney Diseases: Windows of Precision Nephrology / 罕见病研究

As an important category of rare diseases, rare genetic kidney diseases have many types. In recent years, their diagnosis, treatment, research and management strategies have made great progress. Continuously more new genes and mechanisms have been discovered, giving rise to new technologies and drugs for precision medicine and clinical applications. This article systematically analyzes rare diseases involving the urinary system listed in the catalog of rare diseases in China, gives examples to illustrate the research and management methods for the diagnosis and treatment of rare genetic kidney diseases, promotes clinical applications of new drugs by expanding physiological mechanisms, introduces the application of special blood purification in the field of critical rare diseases, and provides an outlook forward to the future prospects of precise diagnosis and treatment of rare kidney diseases in China.

Is scanning under rubber dam isolation a feasible approach for the execution of indirect restorations? / O escaneamento sob isolamento absoluto é uma técnica viável para execução de restaurações indiretas?

Objective: The aim of the study was to report the aplicability of intraoral scanning while rubber dam isolation is in place. Material and Methods: Female patient, 50 years old, required restorative procedures on teeth 35 and 37. An intraoral scan was initially performed on both arches. Isolation was carried out from 33 to 37, tooth preparation and immediate dentin sealing were carried out. A new scan with the rubber dam in place was performed and a CAD/CAM lithium disilicate hybrid block was digitally designed, milled, crystallized and cemented under the tooth surface with the rubber dam still in position. After completing this stage, the rubber dam was removed, the occlusion was verified, presenting excellent aesthetic and functional results. Results: The absolute isolation process used in the present study works as an excellent device for gingival retraction. Conclusion: The absolute isolation can be recommended in clinical activities of intraoral scanning favoring the quality of the final result of treatments (AU)

Objetivo: O objetivo do estudo foi relatar a aplicabilidade do escaneamento intraoral sob isolamento absoluto. Material e Métodos: Paciente do sexo feminino, 50 anos, necessitou de procedimentos restauradores nos dentes 35 e 37. Uma varredura intraoral foi inicialmente realizada em ambos os arcos. O isolamento absoluto foi feito de 33 a 37, permitindo a realização do preparo dentário e selamento imediato da dentina. Um novo escaneamento com o dique de borracha colocado foi realizado e um bloco híbrido de dissilicato de lítio CAD/CAM foi projetado digitalmente, fresado, cristalizado e cimentado sob a superfície dentária ainda com o dique de borracha em posição. Após a finalização dessa etapa, o dique de borracha foi removido, a oclusão foi verificada apresentando ótimos resultados estéticos e funcionais. Resultados: O isolamento absoluto utilizado no presente estudo funciona como um excelente dispositivo para retração gengival. Conclusão: O isolamento absoluto pode ser recomendado em atividades clínicas de escaneamento intraoral favorecendo a qualidade do resultado final dos tratamentos (AU)

Evaluation the scanning accuracy of Blue-Light laboratory scanners in complete edentulous Maxilla with multiple implants with titanium scan bodies / Evaluación de la precisión de escaneado de los escáneres de laboratorio de luz azul en maxilares desdentados completos con implantes múltiples con cuerpos de escaneado de titanio

Abstract To evaluate the accuracy of complete arch scanning with multiple implant titanium scan bodies using laboratory scanners. A master model of an edentulous maxillary arch with 6 implants was fabricated. Titanium scan bodies were inserted into the model. Three laboratory scanners were used: D2000 (3Shape), Vinyl High Resolution (Smart Optics), and inEos X5 (Dentsply Sirona). The master model was consecutively scanned ten times using dental laboratory scanners (LS) without detaching and repositioning the scan bodies. Linear and angular accuracy between adjacent implants was measured using inspection software (Control X, Geomagic). The accuracy of the complete arch scans was calculated. Implant regions were defined as; parallel (R1: #24-26 and #16-14), angled (R2: #22-24 and #14-12), angled to occlusal plane (R3: #12-22), and cross-arch (R4: #16-26). The effect of LS and implant region on accuracy was compared using two-Way ANOVA (α=0.05). Significant greater linear distortion was noted in R4 (61.2±17.9µm) compared to R1 (23.4±15.5µm) and R2 (26±17.7µm) (p<0.01). Greater linear distortions were noted in R4 with D2000 (0.07±0.016 degrees) and Vinyl High Resolution (0.067±0.02 degrees) than inEos X5 (0.032±0.021 degrees) (p>0.05). Greater mean linear precisions were noted in R1 (9±8µm) and R3 (9.3±8.3µm) than R4 (12.6±10.3µm) (p<0.05). The highest linear precision was noted in D2000 (7.2±7.6µm) (p<0.05). The angular precision of D2000 (0.02±0.015 degrees) was the highest (p<0.01). The angular precisión of R4 (0.036±0.018 degrees) was the lowest (p<0.01). This study revealed that the trueness was affected by the implant region and the precision was affected by both LS and implant region.

Resumen Evaluar la precisión del escaneado de la arcada completa con cuerpos de escaneado de titanio de múltiples implantes utilizando escáneres de laboratorio. Se fabricó un modelo maestro de una arcada maxilar edéntula con 6 implantes. Se insertaron cuerpos de escaneo de titanio en el modelo. Se utilizaron tres escáneres de laboratorio: D2000 (3Shape), Vinyl High Resolution (Smart Optics) e inEos X5 (Dentsply Sirona). El modelo maestro se escaneó consecutivamente diez veces usando escáneres de laboratorio dental (LS) sin separar y reposicionar los cuerpos de escaneo. La precisión lineal y angular entre implantes adyacentes se midió utilizando un software de inspección (Control X, Geomagic). Se calculó la precisión de los escaneos completos del arco. Las regiones del implante se definieron como; paralelo (R1: #24-26 y #16-14), angulado (R2: #22-24 y #14-12), angulado al plano oclusal (R3: #12-22) y cruzado (R4: #16-26). El efecto de LS y la región del implante en la precisión se comparó mediante ANOVA de dos vías (α=0,05). Se observó una distorsión lineal significativamente mayor en R4 (61,2±17,9µm) en comparación con R1 (23,4±15,5µm) y R2 (26 ±17,7µm) (p<0,01). Se observaron mayores distorsiones lineales en R4 con D2000 (0,07±0,016 grados) y vinilo de alta resolución (0,067±0,02 grados) que en inEos X5 (0,032±0,021 grados) (p>0,05). Se observaron precisiones lineales medias mayores en R1 (9±8µm) y R3 (9,3±8,3µm) que en R4 (12,6±10,3µm) (p<0,05). La mayor precisión lineal se observó en D2000 (7,2±7,6 µm) (p<0,05). La precisión angular de D2000 (0,02±0,015 grados) fue la más alta (p<0,01). La precisión angular de R4 (0,036±0,018 grados) fue la más baja (p<0,01). Este estudio reveló que la veracidad se vio afectada por la región del implante y la precisión se vio afectada tanto por LS como por la región del implante.

Advances in diffuse glial tumors diagnosis / Avanços no diagnóstico dos gliomas difusos

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.

Reshaping neuroimmunology: diagnosis and treatment in the era of precision medicine / Remodelando a neuroimunologia: diagnóstico e tratamento na era da medicina de precisão

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.

Age and growth assessment of the near-threatened fish Rita rita (Siluriformes: Bagridae) in the Ganges basin

Introduction: Rita rita is a freshwater catfish under threat of extinction, mainly from loss of breeding and nursing grounds. A reliable method for age and growth estimation is needed by fishery managers. Objective: To identify the best body structure for age and growth estimation. Methods: We assessed estimates precision based on Average Percent Error (APE), Coefficient Variation (CV), and Percent Agreement (PA) between readers separately analyzed each calcified structure. We used 390 fish samples from three rivers, Ganga, Yamuna and Ramganga, from September 2018 to August 2019. Results: The three indicators favored the use of vertebrae for age estimation; the growth band seems to be annual and formed from May to September. The growth equations were Lt = 90.19(1-e-0.145(t+0.51)) for Ganga; Lt = 91.19 (1-e-0.14(t+0.59)) for Yamuna and Lt = 89.63 (1-e-0.15(t+0.68)) for Ramganga. Conclusion: This species reaches moderate growth in these rivers, where vertebrae are the recommended age estimation structure, followed, in case of need, by sectioned otoliths, whole otoliths and opercular bones. Pectoral spines should be avoided, especially in older fish.

Introducción: Rita rita es un pez de agua dulce bajo amenaza de extinción, principalmente por la pérdida de sitios de reproducción y crianza. Un método fiable para las estimaciones de edad y crecimiento es necesario para los administradores de recursos pesqueros. Objetivo: Identificar la mejor estructura corporal para estimaciones de edad y crecimiento. Métodos: Evaluamos la precisión de las estimaciones mediante el Porcentaje de Error Promedio (APE), Coeficiente de Variación (CV), y Porcentaje de Acuerdo (PA) entre lecturas para cada estructura calcificada. Usamos 390 muestras de peces de tres ríos, Ganga, Yamuna y Ramganga, de setiembre 2018 hasta agosto 2019. Resultados: Los tres indicadores favorecieron el uso de vértebras para la estimación de edad; la banda de crecimiento parece ser anual y se forma entre mayo y setiembre. Las ecuaciones de crecimiento fueron Lt = 90.19(1-e-0.145(t+0.51)) para Ganga; Lt = 91.19 (1-e-0.14(t+0.59)) para Yamuna y Lt = 89.63 (1-e-0.15(t+0.68)) para Ramganga. Conclusión: La especie alcanza un crecimiento moderado en estos ríos, dónde las vértebras son la estructura de estimación etaria recomendada, seguido de, en caso de ser necesario, los otolitos segmentados, otolitos enteros y huesos operculares. Debe evitarse el uso de espinas pectorales, especialmente en peces de mayor edad.

La genética de la epilepsia en la práctica clínica / The genetics of epilepsy in the clinical practice

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.

ChatGPT: oportunidades y riesgos en la asistencia, docencia e investigación médica / ChatGPT: opportunities and risks in the fields of medical care, teaching, and research

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.

Validación de un modelo para la estimación del contenido de agua del suelo mediante espectroscopía en el infrarrojo cercano

El monitoreo del contenido de humedad en el suelo es especialmente importante, ya que proporciona información relevante para tomar decisiones acertadas, en cuanto a riego, fertirriego y manejo del estrés hídrico. Este trabajo tiene como objetivo validar un modelo de estimación del contenido de agua en el suelo, mediante espectroscopía de reflectancia difusa en el rango del infrarrojo cercano. Los suelos evaluados provienen de los municipios de Puerto Gaitán (Meta), Espinal (Tolima) y Mosquera (Cundinamarca). En los dos primeros se establecieron redes rígidas, para seleccionar los puntos de muestreo y empleando dos profundidades en cada caso (0-10 y 10-30; 0-10 y 10-25 cm, respectivamente). Para el tercero, se describieron 77 calicatas y se tomaron muestras a 0-10 y 10-35 cm de profundidad. Posteriormente, se evaluó el contenido de humedad considerando 0, 15 y 30 % de humedad. Los datos obtenidos se analizaron con estadística descriptiva. Se empleó la validación cruzada y externa para cada modelo y se obtuvo un modelo general, a partir de los datos de los tres sitios. Los modelos obtenidos para cada sitio de muestreo y el modelo general tienen buena capacidad predictiva. Según los resultados, se afirma que la espectroscopía de reflectancia difusa NIR es una excelente opción para determinar el contenido de agua en el suelo. De igual manera, a partir del análisis de componentes principales, se identificó una diferenciación entre contenidos de agua de los suelos estudiados.

Monitoring soil moisture content is especially important as it provides relevant information for making informed decisions regarding irrigation, fertigation, and water stress management. This study aims to validate a model for estimating soil water content using diffuse reflectance spectroscopy in the near-infrared range. The evaluated soils come from the municipalities of Puerto Gaitán (Meta), Espinal (Tolima), and Mosquera (Cundinamarca). In the first two municipalities, rigid networks were established to select sampling points, with two depths considered for each case (0-10 and 10-30 cm; 0-10 and 10-25 cm, respectively). For the third municipality, 77 soil pits were described, and samples were taken at depths of 0-10 and 10-35 cm. Subsequently, moisture content was evaluated at 0, 15, and 30 % moisture levels. The obtained data were analyzed using descriptive statistics. Cross-validation and external validation were applied to each model, and a general model was developed based on the data from all three sites. The obtained models for each sampling site and the general model demonstrated good predictive capacity. Based on the results, it is affirmed that near-infrared diffuse reflectance spectroscopy is an excellent option for determining soil water content. Similarly, principal component analysis identified differentiation between water contents of the studied soils.

Effect of Soil and Climatic Conditions on Brown Spot Occurrence in Rice Lowland across Four Agro-climatic Zones of Côte d’Ivoire

Aims: To evaluate interaction of soil pH and acidity with weather on Rice Brown spot (BS) occurrence in rice lowlands. Study Design: Cross sectional study. Place and Duration of Study: Four distinct rice lowlands belonging to different climatic zones (forest, transitional and savanna) of Côte d’Ivoire during cropping seasons of 2021. Methodology: BS characterization were done in different farmer fields where soil samples were also collected during dry and rainy seasons. Soil silicon and acidity were determined in those samples and rice grain yield at harvest time were recorded in different sites. Weather data related to sites and seasons were used to find out correlations. Results: Occurrence of BS was found in forest zones with scores of 4 and 3 compared to 1 and 2 in savanna and transitional zones, respectively, with seasonal variation. Both rice production and the occurrence of BS were explained by soil parameters in conjunction with climatic parameters. Rainfall (R=0.38) and relative humidity (R=0.64) leaded BS occurrence and decrease of yield. Wind speed (R=0.62) and air maximum temperature (R= 0.63) were the determinant factors affecting rice yields. Si was found to be a component of sustainable soil management that interferes with soil pH in all climatic zones. Combined with Temperature, both soil parameters predicted BS occurrence over 50%. Conclusion: Temperature decrease BS pathogens occurrence whereas high humidity increases its spread. Those parameters combined with silicon which interferes with pH could leads sustainable solutions in BS control. Furthermore, having a deep understanding with rice varietal considerations can significantly improve strategies related to rice cultivation and protection.

Fenótipos digitais para mindfulness e ansiedade encontrados por aplicativo de smartphone / Digital phenotypes for mindfulness and anxiety found by smartphone APP

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.

From "Empirical Surgery" to "Precision Surgery": establishment and clinical application of precision orthognathic surgery system / 华西口腔医学杂志

Orthognathic surgery, which involve osteotomy and repositioning of the maxillomandibular complex, has recently emerged as a crucial method of correcting dentofacial deformities. The optimal placement of the maxillomandibular complex holds utmost significance during orthognathic surgery because it directly affects the surgical outcome. To accurately achieve the ideal position of the maxillomandibular complex, with the rapid advancements in digital surgery and 3D-printing technology, orthognathic surgery has entered an era of "Precision Surgery" from the pervious "Empirical Surgery." This article provides comprehensive insights into our extensive research and exploration of the treatment modality known as "precision orthognathic surgery" over the years. We also present the technical system and application in"Ortho+X" treatment modality to offer valuable references and assistance to our colleagues in the field.

Effects of 450 nm diode blue laser on the vaporization and incision of renal pelvis tissue ex vivo / 现代泌尿外科杂志

【Objective】 To investigate the effects of 450 nm diode blue laser on the morphological changes and thermal damage of renal pelvis under different conditions. 【Methods】 An ex vivo study was conducted on a fresh porcine pelvis model (7 cm×5 cm×3 cm). The laser fiber was fixed on the mechanical arm perpendicular to the renal pelvis tissue, and the distance between them was 1-2 mm. The renal pelvis tissue was incised at a speed of 1-2 mm/s and power of 5-30 W. After the incised tissue was fixed in formalin (4%), the morphology, depth, width and coagulation thickness were observed with naked eyes and a microscope. 【Results】 The different powers had different vaporization and incision effects. When the operating distance was 2 mm, the speed was 2 mm/s and power was 5 W, the vaporization depth, width and coagulation thickness were approximately 0 9 mm, 0.25 mm and 0.35 mm, respectively. With the increase of power, the vaporization width and depth increased, and the coagulation thickness was 0.35-0.50 mm. When the power was more than 10 W, the renal pelvis tissue was easily penetrated. When the laser power was 20 W, the section of the renal pelvis showed an irregular shape of vaporization. When the operating distance was 1 mm, the whole renal pelvis tissue was easily vaporized. When it was 2 mm, a wide and safe energy treatment window was produced. 【Conclusion】 The 450 nm diode blue laser can vaporize and incise renal pelvis tissue safely and effectively, with high precision and little thermal damage. It is expected to be a new surgical tool in the treatment of renal pelvis lesions.

Question, Intercommunication, and Meaning Generation: Precision of Life Value Education in Ideological and Political Courses for Medical Students / 中国医学伦理学

Medical students differ greatly in their thinking and cognition of the value and pursuit of life existence. The mainstream values are positive and pragmatic, but they are also characterized by decentralization, diversification, individualization and variability. Value education needs to be object-centered, take care of students’ individual lives, understand and answer their real questions to be more accurate and effective. In the intelligent technology society, the education of life value of medical students in the ideological and political courses should rely on the intelligent technology platform to achieve the precise coupling of object and value goal through the form of question exchange. It is necessary to transcend the limitations of medical science perspective, realize accurate life value education, face the nihilistic challenge of life value, understand the systematic and dialectical significance of life events, and return to the original intention and mission of medical science to take care of life itself.

Research Development in Patients with Olmsted Syndrome / 罕见病研究

Olmsted syndrome (OS) is an extremely rare hereditary skin disease, that is usually characterized by mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques. The diagnosis of this disease depends primarily on the clinical presentation and OS has to be differentiated from other disorders associated with hyperkeratosis. In recent years, there have been many advances in molecular genetic research on the pathogenesis of the disease. The genes that can cause disease after specific mutations include TRPV3, MBTPS2/S2P and PERP. Therefore, genetic testing has become one of the important methods for the diagnosis of this disease.OS treatment is difficult, and conventional therapy uses topical drugs to soften the cuticle of the skin, or oral Avi A.Excision of palmoplantar keratosis may also be used for constricting rings that severely restrict movement, but they often reoccur after initial improvement. In terms of precision treatment, researchers have tried the small molecule drugs erlotinib and sirolimus and have achieved some results. This paper summarizes the etiology, pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of OS, in order to improve the clinicans' awareness of OS.

Classification, Diagnosis and Management Status of Carbohydrate Metabolic Rare Disorders / 罕见病研究

Approximately 30%-40% of rare diseases are related to the endocrine and metabolic system, and abnormal metabolism of carbohydrate accounts for a significant proportion among others. Carbohydrate metabolic rare disorders often develop insidiously. The clinical symptoms of these disorders sometimes overlap with common diseases. Therefore, delayed diagnosis, misdiagnosis, and mismanagement happen often. The diagnosis and treatment of carbohydrate metabolic rare disorders is usually difficult in clinical practice. Efficient and practical screening models, identification of specific clinical features and biochemical changes, and genomic sequencing are critical to improve diagnostic efficiency. Most carbohydrate metabolic rare disorders are still lack in effective and targeted therapies. So, the symptomatic treatment is still main practice. The targeted medications and gene therapies based on precision diagnosis are directions for the diagnosis and management of rare disorders of carbohydrate metabolism in the future. In this paper, we classify the carbohydrate metabolic rare disorders based on their causes. We also discuss the current status and prospective of diagnosis and management of those diseases.

The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases / 罕见病研究

Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients. The approach uses symptoms, signs, various medical examination and laboratory results, and other relevant medical information. In the clinical diagnosis and medical research of rare bone diseases, deep phenotyping plays a pivotal role. The realization of precision medicine primarily comprises three key dimensions: deep phenotyping, stratified medicine, and targeted therapy. The deep phenotyping is the basis for the latter two. Deep phenotyping not only facilitates fine subtyping of diseases, but also allows for the in-depth understanding of genetic data. The use of deep phenotyping requires stand- ardized terminology and specific procedures. Moreover, deep phenotyping shows substantial potential using the application of artificial intelligence technology particularly when combining with multi-omics techniques.

Research progress on genome-guided precision oncology and development ideas of antitumor Chinese medicine / 中国中药杂志

Genome-guided oncology refers to a new treatment concept that transcends histological classification and pathological ty-ping and uses drugs according to the genetic characteristics of tumors. New drug development technology and clinical trial design based on this concept provide new ideas for the clinical application of precision oncology. The multi-component and multi-target characteristics of Chinese medicine provide rich resources for the development of tumor-targeting drugs from natural products, and the design of the master protocol trial aiming at the characteristics of precision oncology supports the rapid clinical screening of effective tumor-targeting drugs. The emergence of the synthetic lethality strategy breaks through the bottleneck that the drug can only target the oncogene but cannot do anything to the tumor suppressor gene with the loss-of-function mutation in the past. With the rapid development of high-throughput sequencing technology, the cost of sequencing is also decreasing. For the development of tumor-targeting drugs, how to keep up with the update speed of target information is a difficult problem of concern. Based on the integration of innovative ideas and me-thods of precision oncology, network pharmacology, and synthetic lethality strategy on synthetic lethal interaction network of antitumor Chinese medicine compatibility formula design, and the combination of improvement of innovative clinical trial methods, such as master protocol trial, basket trial, and umbrella trial, unique advantages of Chinese medicine are expected to be exerted beyond the antibody-based drugs and small molecule-based drugs and corresponding targeted drugs are potentially developed for clinical application.

Tensor decomposition: new strategy for deciphering mechanism of precision medicine for same treatment of different diseases / 中国中药杂志

The aging society has led to a substantial increase in the number of clinical comorbidities. To meet the needs of comorbidity treatment, polypharmacy is widely used in clinical practice. However, polypharmacy has drawbacks such as treatment conflict. Same treatment of different diseases refers to treating different diseases with same treatment. Therefore, the principle of same treatment of different diseases can alleviate the problems caused by polypharmacy. Under the research background of precision medicine, it becomes possible to explore the mechanism of same treatment of different diseases and achieve its clinical application. However, drugs successfully developed in the past have revealed shortcomings in clinical use. To better interpret the mechanism of precision medicine for same treatment of different diseases, under the multi-dimensional attributes including dynamic space and time, omics was performed, and a new strategy of tensor decomposition was proposed. With the characteristics of complete data, tensor decomposition is advantageous in data mining and can fully grasp the connotation of precision treatment of different diseases with same treatment under dynamic spatiotemporal changes. This method is used for drug repositioning in some biocomputations. By taking advantage of the dimensionality reduction of tensor decomposition and integrating the dual influences of time and space, this study achieved accurate target prediction of same treatment of different diseases at each stage, and discovered the mechanism of precision medicine of same treatment for different diseases, providing scientific support for precision prescription and treatment of different diseases with same treatment in clinical practice. This study thus conducted preliminary exploration of the pharmacological mechanism of precision Chinese medicine treatment.