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)

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)

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.

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.

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.

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.

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.

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.

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.

Importancia del microbioma en la salud humana y aplicaciones médicas / Importance of the microbiome in human health and medical implications

Recientes investigaciones han relacionado la microbiota intestinal con la salud humana en múltiples aspectos. La evolución de los estilos de vida ha determinado un cambio en la composición de las bacterias intestinales, así como la implicación que la comunidad de estas ejerce sobre la salud. Actualmente, se conoce que la mayoría de las bacterias presentes en el sistema gastrointestinal pertenecen principalmente a los fila Firmicutes y Bacterioidetes, aunque también se encuentran otros grupos tales como proteobacterias y actinobacterias. A medida que se avanza en el tracto gastrointestinal predominan algunos géneros de bacterias. Los efectos de la microbiota pueden ser directos e indirectos, además, dependen de muchos factores tales como la edad de la persona, el grupo etario, la genética del individuo, la dieta y el estilo de vida. Durante los últimos años, la accesibilidad a tecnologías de secuenciación ha permitido tener un acercamiento más estrecho a la microbiota intestinal. Esto, sumado a herramientas bioinformáticas, ha permitido establecer relaciones microbiales entre la cantidad y estructura poblacional y las manifestaciones clínicas en el ser humano. Algunas de las afecciones estudiadas y que tienen relación con la microbiota intestinal son: la obesidad, la diabetes, el cáncer, las enfermedades relacionadas con el cerebro, las enfermedades cardiovasculares y las enfermedades gastrointestinales. De acuerdo con lo mencionado, se hizo una recopilación de información de carácter científico en cuanto a estudios relevantes que describen la relación microbiota-salud humana y casos donde se observa compromiso del organismo, al mismo tiempo que se describen opciones terapéuticas propuestas y un abordaje de perspectivas futuras.

Recent research has linked gut microbiota to human health in multiple ways. The evolution of lifestyles has determined a change in the composition of intestinal bacteria, as well as the implications that they exert on health. Currently, it is known that most of the bacteria present in the gastrointestinal sector belong mainly to the phylum Firmicutes and Bacterioidetes, although there are also other groups such as proteobacteria and actinobacteria. As it progresses through the gastrointestinal tract, some genera of bacteria and species predominate. The effects of the microbiota can be direct and indirect, and also depend on many factors such as the age of the person, the age group, the individual's genetics, diet, and lifestyle. In recent years, accessibility to sequencing technologies has allowed for a closer approach to the intestinal microbiota. This, added to bioinformatic tools has allowed establishing microbial relationships in terms of quantity and population structure with clinical manifestations in humans. Some of the pathologies studied that are related to intestinal microbiota are obesity, diabetes, cancer, brain-related diseases, cardiovascular diseases, and gastrointestinal diseases. A compilation of scientific information is made regarding relevant studies that describe the microbiota-human health relationship, cases where the organism is affected, as well as proposed therapeutic options and an approach to future perspectives

De la salud colectiva a la medicina "personalizada": desafíos bioéticos de la evaluación genética preimplantatoria desde la perspectiva norte-sur / From collective health to "personalized" medicine: bioethical challenges in preimplantation genetic testing from a North-South perspective

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.

Web App for prediction of hospitalisation in Intensive Care Unit by covid-19 / Web App para la predicción de hospitalización em la Unidad de Cuidados Intensivos por covid-19 / Web App para a predição de internação em Unidade de Terapia Intensiva por covid-19

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.

Spatial variability of soil fertility under agroforestry system and native forest in eastern Amazonia, Brazil

The usage of spatial tools might be helpful in the optimization of decision-making regarding soil management, with technologies that assist in the interpretation of information related to soil fertility. Therefore, the present study evaluated the spatial variability of chemical attributes of the soil under an agroforestry system compared to a native forest in the municipality of Tomé-açu, Eastern Amazon, Brazil. Soil samples were performed at 36 points arranged in a 55 x 55 m grid. The soils were prepared and submitted to analysis in order to determine pH in H2O, exchangeable calcium, magnesium, potassium and aluminium, available phosphorus, potential acidity, organic matter, bases saturation and aluminium saturation. For each soil attribute, the spherical, gaussian and exponential models were adjusted. After the semivariograms fitting, data interpolation for assessment of spatial variability of the variables was performed through ordinary kriging. The spherical and gaussian models were the most efficient models in estimation of soil attributes spatial variability, in most cases. Most of variables presented a regular spatial variability in their respective kriging maps, with some exceptions. In general, the kriging maps can be used, and we can take them as logistical maps for management and intervention practices in order to improve the soil fertility in the study areas. The results principal components indicate the need for integrated management of soil chemical attributes, with localized application of acidity correctors, fertilizers and other types of incomes, using the spatial variability of these fertility variables.

Research Progress of Deep Learning in Bladder Cancer Pathology / 肿瘤防治研究

The incidence of bladder cancer is increasing annually, and the gold standard for its diagnosis relies on histopathological biopsy. Whole-slide digitization technology can produce thousands of high-resolution captured pathological images and has greatly promoted the development of digital pathology. Deep learning, as a new method of artificial intelligence, has achieved remarkable results in the analysis of pathological images for tumor diagnosis, molecular typing, and prediction of prognosis and recurrence of bladder cancer. Traditional pathology relies heavily on the professional level and experience of pathologists; as such, it is highly subjective and has poor reproducibility. Deep learning can automatically extract image features. It can also improve diagnostic efficiency and repeatability and reduce missed and misdiagnosed rates when used to assist pathologists in making decisions. This technology cannot only alleviate the pressure of the current shortage of skilled workforce and uneven medical resources but also promote the development of precision medicine. This article reviews the latest research progress and prospects of deep learning in pathological image analysis of bladder cancer.

Perspective of Precision Therapy on Lung Cancer / 肿瘤防治研究

Lung cancer remains to have the highest morbidity and mortality rates in China among known malignant tumors. Novel drugs and regimens have been sought because of the limited efficiency of traditional chemotherapy and radiotherapy in lung cancer treatment. In the last 20 years, rapid developments in molecular targeted therapy and immunotherapy have increased clinical efficacy and benefitted patients with cancer. Treatments for lung cancer are the most rapidly developed among treatments for solid tumors, pioneering tumor precision medicine. This manuscript reviews the evolution and development of targeted therapy and immunotherapy and discusses existing problems and future directions in the precision therapy of lung cancer.

Innovation and application of metabolomics technology for research in the biomedical field / 药学学报

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.

Cancer genomics and precision medicine / 药学学报

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.