Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up.@*METHODS@#A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis.@*RESULTS@#In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001).@*CONCLUSION@#Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

A influência do gene MAOA em desordens mentais do indivíduo / The influence of the MAOA gene on mental disorders of the individual / La influencia del gen MAOA en los trastornos mentales del individuo

Objetivo:Revisar e discorrer sobre os estudos científicos que buscam a associação do polimorfismo do gene MAOA, do tipo uVNTR, com distúrbios mentais em adultos. Método:Foi realizada uma revisão integrativa de acordo com o modelo PRISMA. A pesquisa seguiu as etapas de formulação da questão de pesquisa, seleção das bases de dados de busca de referências, definição da estratégia de busca, avaliação da elegibilidade dos estudos, triagem e seleção dos artigos, extração de dados e compilação dos resultados. Resultados:Foram selecionados 12 artigos originais que relataram o polimorfismo do tipo u-VNTR e seus alelos de 2, 3, 3,5, 4 e 5 repetições no gene MAOA, e sua associação com distúrbios psíquicos. Conclusão:O polimorfismo do gene MAOA do tipo uVNTR está relacionado com a funcionalidade da enzima MAOA, aumentando ou diminuindo sua atividade, elevando ou diminuindo os níveis de dopamina, serotonina ou noradrenalina, e essas alterações estão relacionados à diversos distúrbios mentais, como esquizofrenia, depressão, comportamentos agressivos antissociais, ansiedade, transtorno de déficit de atenção e hiperatividade (TDAH), transtorno do espectro autista e outros distúrbios relacionados à expressão desses neurotransmissores.

Objective: To review and discuss scientific studies that seek the association of the polymorphism of the MAOA gene, of the uVNTR type, with mental disorders in adults. Method: An integrative review was performed according to the PRISMA model. The research followed the stages of formulation of the research question, selection of reference search databases, definition of the search strategy, evaluation of the eligibility of studies, screening and selection of articles, data extraction and compilation of results. Results:We selected 12 original articles that reported the u-VNTR polymorphism and its alleles of 2, 3, 3.5, 4 and 5 repeats in the MAOA gene, and its association with psychic disorders. Conclusion: The polymorphism of the MAOA gene of the uVNTR type is related to the functionality of the MAOA enzyme, increasing or decreasing its activity, raising or decreasing the levels of dopamine, serotonin or noradrenaline, and these changes are related to several mental disorders, such as schizophrenia, depression, aggressive antisocial behaviors, anxiety, attention deficit hyperactivity disorder (ADHD), autism spectrum disorder and other disorders related to the expression of these neurotransmitters.

Objetivo: Revisar y discutir estudios científicos que busquen la asociación del polimorfismo del gen MAOA, del tipo uVNTR, con trastornos mentales en adultos. Método:Se realizó una revisión integradora según el modelo PRISMA. La investigación siguió las etapas de formulación de la pregunta de investigación, selección de bases de datos de búsqueda de referencias, definición de la estrategia de búsqueda, evaluación de la elegibilidad de los estudios, selección y selección de artículos, extracción de datos y compilación de resultados. Resultados:Se seleccionaron 12 artículos originales que reportaron el polimorfismo u-VNTR y sus alelos de 2, 3, 3.5, 4 y 5 repeticiones en el gen MAOA, y su asociación con trastornos psíquicos. Conclusión:El polimorfismo del gen MAOA del tipo uVNTR está relacionado con la funcionalidad de la enzima MAOA, aumentando o disminuyendo su actividad, elevando o disminuyendo los niveles de dopamina, serotonina o noradrenalina, y estos cambios están relacionados con varios trastornos mentales, como esquizofrenia, depresión, conductas antisociales agresivas, ansiedad, trastorno por déficit de atención con hiperactividad (TDAH), trastorno del espectro autista y otros trastornos relacionados con la expresión de estos neurotransmisores.

SGK1 as a therapeutic target for central nervous system diseases / 生理学报

Serum and glucocorticoid-regulated kinase 1 (SGK1) plays an important role in the physiological processes of hormone release, neuronal excitation and cell proliferation. SGK1 also participates in the pathophysiological processes of inflammation and apoptosis in the central nervous system (CNS). Increasing evidence demonstrates that SGK1 may serve as a target of the intervention of neurodegenerative diseases. In this article, we summarize the recent progress on the role and molecular mechanisms of SGK1 in the regulation of the function of the CNS. We also discuss the potential of newly discovered SGK1 inhibitors in the treatment of CNS diseases.

Regulation of Glial Function by Noncoding RNA in Central Nervous System Disease / 神经科学通报·英文版

Non-coding RNAs (ncRNAs) are a class of functional RNAs that play critical roles in different diseases. NcRNAs include microRNAs, long ncRNAs, and circular RNAs. They are highly expressed in the brain and are involved in the regulation of physiological and pathophysiological processes of central nervous system (CNS) diseases. Mounting evidence indicates that ncRNAs play key roles in CNS diseases. Further elucidating the mechanisms of ncRNA underlying the process of regulating glial function that may lead to the identification of novel therapeutic targets for CNS diseases.

Interosseous atrophy beyond rheumatoid arthritis, a manifestation of amyotrophic lateral sclerosis

Interosseous atrophy of the hand is not an exclusive finding of rheumatoid arthritis, and in the case of amyotrophic lateral sclerosis it has a significant diagnostic and prognostic value. The physical examination and evidence of the "split hand" sign or sign of the double anatomical snuffbox is a finding that should alert the clinician to the need for complementary studies in order to rule out neurological pathology.

La atrofia de interóseos de la mano no es un hallazgo exclusivo de la artritis reumatoide, en el caso de la esclerosis lateral amiotrófica tiene un valor diagnóstico y pronóstico significativo, por lo que la exploración física y la evidencia del signo de la mano partida o signo de la doble tabaquera anatómica es un hallazgo que debe alertar al clínico de la necesidad de realizar estudios complementarios para descartar una enfermedad neurológica.

Cognitive assessment of Brazilian patients with multiple sclerosis: weighing the impact of disability and depressive symptoms / Avaliação cognitiva de pacientes brasileiros com esclerose múltipla: análise do impacto da incapacidade e dos sintomas depressivos

ABSTRACT Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous system. Cognition is not routinely assessed in patients with MS though they frequently have cognitive complaints or dysfunction. Objective: The aim of this study was to compare the cognitive status of patients with MS with age, sex, and schooling matched controls and to evaluate the potential influence of clinical parameters on cognition. Methods: A total of 35 patients with MS (mean±SD age 37.9 years±11.44, M/F: 12/23) and 33 healthy controls (mean±SD age 38.8 years±12.6, M/F: 12/21) were enrolled in this study. All subjects underwent a structured clinical assessment and the cognitive tools are as follows: Paced Auditory Serial Addition Test (PASAT), Symbol Digit Modalities Test (SDMT), Rey Auditory Verbal Learning Test (RAVLT), Digit Span, and Verbal Fluency Tests (letters F, A, and S and animal category). Psychopathology was assessed with the Mini International Neuropsychiatric Interview and the Beck Depression Inventory (BDI). The Expanded Disability Status Scale (EDSS) was used for patients. Results: Patients performed worse than controls in almost all tests, with approximately 70% of patients presenting cognitive impairment. The most affected cognitive domain was episodic memory (45.7%), followed by verbal fluency (42.8%) and information processing speed (22.8%). SDMT was inversely correlated with disease severity, as assessed by the EDSS. Depression did not influence cognitive performance in this cohort. Conclusions: Cognitive dysfunction is common among patients with MS. While motor impairment was associated with information processing speed, depression did not influence cognitive performance.

RESUMO A esclerose múltipla (EM) é a doença desmielinizante mais comum do sistema nervoso central. A cognição não é rotineiramente avaliada nos pacientes apesar da ocorrência frequente de queixas ou disfunção cognitivas. Objetivo: Comparar o perfil de pacientes com EM com controles pareados por idade, sexo e escolaridade e investigar a potencial influência de parâmetros clínicos na cognição. Métodos: Trinta e cinco pacientes com EM (idade média±desvio padrão [DP] 37,9 anos±11,44, H/M: 12/23) e 33 controles saudáveis (idade média±DP 38,8 anos±12,6, H/M: 12/21) foram incluídos neste estudo. Todos os participantes passaram por avaliação clínica estruturada e por testagem cognitiva com os seguintes instrumentos: Paced Auditory Serial Addition Test (PASAT), Symbol Digit Modalities Test (SDMT), Rey Auditory Verbal Learning Test (RAVLT), Digit Span e testes de fluências verbais (letras F, A e S e categoria-animais). A psicopatologia foi investigada com a Mini International Neuropsychiatric Interview e com o Beck Depression Inventory (BDI). A Expanded Disability Status Scale (EDSS) foi aplicada nos pacientes. Resultados: Pacientes tiveram desempenho pior que os controles na maioria dos testes — 70% deles tiveram déficit cognitivo. A função cognitiva mais frequentemente afetada foi memória episódica (45,7%), seguida por fluência verbal (42,8%) e velocidade de processamento (22,8%). A pontuação no SDMT correlacionou-se inversamente com a gravidade da doença, medida pela EDSS. A depressão não influenciou o desempenho cognitivo nesta série de pacientes. Conclusões: Declínio cognitivo é comum em pacientes com EM. Enquanto o déficit motor se associou com a velocidade de processamento, a depressão não influenciou o desempenho cognitivo.

Dysphagia in Alzheimer's disease: a systematic review / A disfagia na Doença de Alzheimer: uma revisão sistemática

ABSTRACT Dysphagia is described as a highly relevant comorbidity of Alzheimer's disease (AD). However, there is a scarcity of studies aiming at the characteristics and progression of dysphagia. Objective: The objective of this study was to identify the specific characteristics, progression, and prevalence of dysphagia in AD. Methods: Publications were searched in the PubMed (MEDLINE), EBSCO, ScienceDirect, and BASE databases. Critical appraisal and evidence-level analysis were conducted using the Joanna Briggs Institute and Effective Public Health Practice Project's (EPHPP) tools. Results: A total of 26 studies were reviewed. Symptoms begin in the early stage of AD, as oral phase impairments, and progress to pharyngeal symptoms and swallowing apraxia in the later stages of AD. Dysphagia progresses, as AD, along a continuum, with severity depending on individual variability. There were no studies found on prevalence. Conclusions: Dysphagia is a complex and important comorbidity in AD that impacts the quality of life. No recent publications on prevalence may imply that is not being coded as a potential cause for pneumonia deaths in AD.

RESUMO A disfagia é uma comorbidade relevante da doença de Alzheimer (DA). No entanto, existem poucos estudos sobre as suas características e progressão. Objetivo: Identificar as características específicas, a progressão e a prevalência da disfagia na DA. Métodos: Pesquisa conduzida nas bases PubMed (Medical Literature Analysis and Retrieval System Online — MEDLINE), EBSCO, ScienceDirect e BASE. Avaliação crítica e análise do nível de evidência foram conduzidas usando as ferramentas do Joanna Briggs Institute e do Effective Public Health Practice Project (EPHPP). Resultados: Incluíram-se 26 estudos. Os sintomas iniciam-se no estádio inicial da DA, como alterações de fase oral, progredindo para alterações faríngeas e apraxia de deglutição no estádio grave. A disfagia progride, como a DA, num continuum, com a gravidade dependendo da variabilidade individual. Não foram encontrados estudos de prevalência. Conclusões: A disfagia é uma comorbidade complexa e importante que tem impacto na qualidade de vida. A escassez de publicações atuais de prevalência pode indicar que não é considerada como potencial causa de morte por pneumonia na DA.

Diagnóstico e manejo da demência da doença de Parkinson e demência com corpos de Lewy: recomendações do Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia / Diagnosis and management of Parkinson's disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology

RESUMO A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.

ABSTRACT Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts.

Diagnóstico da doença de Alzheimer: recomendações do Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia / Diagnosis of Alzheimer's disease: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology

RESUMO Este artigo apresenta o consenso realizado pelo Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia sobre os critérios diagnósticos da Doença de Alzheimer (DA) no Brasil. Foi realizada uma revisão da literatura e dos critérios clínicos e de pesquisa para DA, sendo propostos protocolos para o diagnóstico de DA em níveis de atenção primária, secundária e terciária. Dentro deste cenário clínico, são apresentados os critérios diagnósticos para DA típica e atípica, além de instrumentos de avaliação clínica, cognitiva e funcional; bem como propedêutica complementar com exames laboratoriais e de neuroimagem. A utilização de biomarcadores é também apresentada, tanto para o diagnóstico clínico em situações específicas quanto para pesquisa.

ABSTRACT This paper presents the consensus of the Scientific Department of Cognitive Neurology and Aging from the Brazilian Academy of Neurology on the diagnostic criteria for Alzheimer's disease (AD) in Brazil. The authors conducted a literature review regarding clinical and research criteria for AD diagnosis and proposed protocols for use at primary, secondary, and tertiary care levels. Within this clinical scenario, the diagnostic criteria for typical and atypical AD are presented as well as clinical, cognitive, and functional assessment tools and complementary propaedeutics with laboratory and neuroimaging tests. The use of biomarkers is also discussed for both clinical diagnosis (in specific conditions) and research.

Tumoración en el colículo inferior como causa de acúfeno unilateral / Tumor at inferior colliculus causing unilateral tinnitus

Resumen La patología del sistema nervioso central, habitualmente, no provoca síntomas auditivos unilaterales, ya que la vía auditiva central está formada por una red de conexiones cruzadas entre los diferentes núcleos que la forman. Además, hay que considerar que una lesión pequeña puede extenderse a más de una estructura provocando varios déficits neurológicos debido a la proximidad de los tractos y núcleos nerviosos. Las lesiones unilaterales circunscritas en el colículo inferior son infrecuentes. No obstante, se han descrito casos en los que lesiones unilaterales de diversas etiologías en esta localización causaban síntomas auditivos. Ya que la vía auditiva central es cruzada, síntomas auditivos detectados con más frecuencia afectaban concretamente a la capacidad de localización del sonido o la comprensión verbal. Presentamos el caso de un hombre de 44 años con acúfeno unilateral derecho de larga evolución, sin otra clínica asociada quien fue diagnosticado de un tumor en el colículo inferior derecho mediante resonancia magnética cerebral. Se exponen los hallazgos clínicos y radiológicos del caso.

Abstract Central nervous system diseases usually do not cause auditory symptoms because the central auditory pathway consists on a network of crossed connections between the different nuclei that form it. In addition, we must consider that a small lesion might extend to more than one structure producing many neurologic symptoms due to the proximity of tracts and nuclei in the midbrain. Unilateral circumscribed lesions at inferior colliculus are rare. Nevertheless, lesions at this location causing auditory symptoms have been described. Because of the crossed central auditory pathway, the most commonly detected auditory symptoms specifically affected the ability to locate sound or verbal comprehension. We present the case of a 44-year-old man with a long-term monoaural right-sided tinnitus without other complaints who was diagnosed of a tumour at right inferior colliculus by neuroimaging. Clinical and radiological findings of this case are discussed.

Relación entre manifestaciones neurológicas y severidad de la COVID-19. Hospital San Vicente de Paúl. Ecuador 2021 / Relationship between neurological manifestations and severity of COVID-19. San Vicente de Paul Hospital. Ecuador 2021

Introducción: El SARS-CoV-2 afecta principalmente al sistema respiratorio, pero el daño producido por este virus también se extiende a otros sistemas, incluido el sistema nervioso, y los mecanismos de infección neurológica pueden ser directos o indirectos. Objetivo: Determinar la relación entre las manifestaciones neurológicas y la severidad de la enfermedad en pacientes sintomáticos positivos a la COVID-19. Hospital San Vicente de Paúl. 2021. Material y Métodos: Estudio observacional de corte transversal, empleando el registro de historias clínicas de los pacientes hospitalizados con la COVID-19 y manifestaciones neurológicas, las cuales se clasificaron en manifestaciones del sistema nervioso central y manifestaciones del sistema nervioso periférico. Resultados: 74,1 por ciento pacientes presentaron manifestaciones neurológicas, el mayor porcentaje se concentró en pacientes que desarrollaron enfermedad grave (15 [60 por ciento], SNC; 91 [77,1 por ciento], SNP; 125 [65,4 por ciento], SNC y SNP). La presencia conjunta de manifestaciones neurológicas centrales y periféricas se asoció significativamente con la COVID-19 crítica (P valor= 0,011; OR: 2,005). El índice de mortalidad alcanzó 2,69 por ciento. Conclusiones: Las manifestaciones neurológicas en pacientes hospitalizados con la COVID-19 son muy frecuentes, y la COVID-19 crítica tiene mayor probabilidad de presentar manifestaciones neurológicas(AU)

Introduction: SARS-CoV-2 mainly affects the respiratory system, but the damage caused by this virus also extends to other systems, including the nervous system, and the mechanisms of neurological infection can be direct or indirect. Objective: To determine the relationship between neurological manifestations and disease severity in symptomatic COVID-19 positive patients at San Vicente de Paul Hospital in 2021. Material and Methods: A cross-sectional observational study was conducted using medical records of patients hospitalized with COVID-19 and neurological manifestations, which were classified into manifestations of the central nervous system and manifestations of the peripheral nervous system. Results: The results show that 74,1 percent of patients presented neurological manifestations; the highest percentage was concentrated in patients who developed severe disease (15 [60 percent], CNS; 91 [77,1 percent], PNS; 125 [65,4 percent], CNS and PNS). The joint presence of central and peripheral neurological manifestations was significantly associated with critical COVID-19 (P value= 0,011; OR: 2,005). The mortality rate reached 2,69 percent. Conclusions: Neurological manifestations in hospitalized COVID-19 patients are very common, and critical COVID-19 is more likely to have neurological manifestations(AU)

Bacopa monnieri: historical aspects to promising pharmacological actions for the treatment on central nervous system diseases / Bacopa monnieri: aspectos históricos de las acciones farmacológicas prometedoras para el tratamiento de enfermedades del sistema nervioso central

Bacopa monnieri(L.) Wettst. (Plantaginaceae), also known as Brahmi, has been used to improve cognitive processes and intellectual functions that are related to the preservation of memory. The objective of this research is to review the ethnobotanical applications, phytochemical composition, toxicity and activity of B. monnieri in the central nervous system. It reviewed articles on B. monnieri using Google Scholar, SciELO, Science Direct, Lilacs, Medline, and PubMed. Saponins are the main compounds in extracts of B. monnieri. Pharmacological studies showed that B. monnieri improves learning and memory and presents biological effects against Alzheimer's disease, Parkinson's disease, epilepsy, and schizophrenia. No preclinical acute toxicity was reported. However, gastrointestinal side effects were reported in some healthy elderly individuals. Most studies with B. monnieri have been preclinical evaluations of cellular mechanisms in the central nervous system and further translational clinical research needs to be performed to evaluate the safety and efficacy of the plant.

Bacopa monnieri (L.) Wettst. (Plantaginaceae), también conocida como Brahmi, se ha utilizado para mejorar los procesos cognitivos y las funciones intelectuales que están relacionadas con la preservación de la memoria. El objetivo de esta investigación es revisar las aplicaciones etnobotánicas, composición fitoquímica, toxicidad y actividad de B. monnieri en el sistema nervioso central. Se revisaron artículos sobre B. monnieri utilizando Google Scholar, SciELO, Science Direct, Lilacs, Medline y PubMed. Las saponinas son los principales compuestos de los extractos de B. monnieri. Los estudios farmacológicos mostraron que B. monnieri mejora el aprendizaje y la memoria y presenta efectos biológicos contra la enfermedad de Alzheimer, la enfermedad de Parkinson, la epilepsia y la esquizofrenia. No se informó toxicidad aguda preclínica. Sin embargo, se informaron efectos secundarios gastrointestinales en algunos ancianos sanos. La mayoría de los estudios con B. monnieri han sido evaluaciones preclínicas de los mecanismos celulares en el sistema nervioso central y es necesario realizar más investigaciones clínicas traslacionales para evaluar la seguridad y eficacia de la planta.

Fisiopatología de la enfermedad COVID-19 / Pathophysiology of COVID-19 / Fisiopatologia da doença COVID-19

La enfermedad por coronavirus es una infección respiratoria causada por el virus SARS-CoV 2, el cual genera una cascada de eventos sistémicos, afectando diferentes órganos y tejidos. El entendimiento de la fisiopatología del COVID-19 es indispensable no solo al momento de brindar tratamiento a los pacientes, sino que también para comprender las causas de las complicaciones que presentan un número importante de pacientes recuperados. El objetivo de este trabajo es presentar una revisión actualizada de los efectos de la infección en diferentes órganos y sistemas principales que sea de utilidad como material de referencia para profesionales y estudiantes de la salud. Para ello se realizó una búsqueda bibliográfica en los portales PubMED, Scielo, Google Scholar, Cochrane y Springer Link, así como en las bases de repositorios científicos pre-publicación bioRxiv ("bioarchives") y medRxiv ("med-archives") y sobre un total de cerca de 200 mil artículos, se seleccionaron 100 artículos para esta revisión en base a su relevancia o sugerencias de parte de profesionales especializados.

Coronavirus disease is a respiratory infection caused by the SARS-CoV-2 virus, which causes a cascade of systemic events, affecting various organs and tissues. Understanding the pathophysiology of COVID-19 is essential to treat patients and understand the causes of the complications in a significant number of recovered patients. This article presents a review of the effects of infection on various organs and systems that will be useful as reference material for healthcare professionals and medical students. To this end, a literature search was conducted in PubMED, Scielo, Google Scholar, Cochrane, and Springer Link portals, as well as in the pre-publication scientific repositories bioRxiv ("bioarchives") and medRxiv ("med-archives") databases. From about 200,000 papers, 100 articles were selected for this review based on their relevance or suggestions from experts in the field.

A doença coronavírus é uma infecção respiratória causada pelo vírus SARS-CoV-2, que gera uma cascata de eventos sistêmicos, afetando diferentes órgãos e tecidos. Compreender a fisiopatologia da COVID-19 é essencial não apenas no tratamento de pacientes, mas também para compreender as causas das complicações que um número significativo de pacientes recuperados apresenta. O objetivo deste trabalho é apresentar uma revisão atualizada dos efeitos da infecção em diferentes órgãos e principais sistemas que seja útil como material de referência para profissionais de saúde e estudantes. Para isso, foi realizada uma pesquisa bibliográfica nos portais PubMED, Scielo, Google Scholar, Cochrane e Springer Link, bem como nos repositórios científicos de pré-publicação bioRxiv ("bioarquivos") e medRxiv ("arquivos med"). Num total de cerca de 200 mil artigos, 100 artigos foram selecionados para esta revisão por sua relevância ou sugestões de profissionais especializados.

Dor neuropática na prática clínica: ênfase nos instrumentos diagnósticos / Neuropathic pain in clinical practice: emphasis on diagnostic tools

A dor neuropática é causada por uma lesão ou doença do sistema nervoso somatossensitivo. Trata-se de uma manifestação sindrômica que envolve mecanismos inflamatórios e imunes com fisiopatologia ainda pouco esclarecida. O espectro de apresentação da dor neuropática é amplo e, assim, constitui um desafio na prática clínica. Este problema de saúde pública necessita de ampla capacidade técnica dos clínicos generalistas. Torna-se relevante identificar o potencial de cronificação do sintoma e adotar abordagens mitigantes do processo lesivo, estrutural e emocional. Nesse sentido, o diagnóstico adequado da dor neuropática é o primeiro passo na abordagem ao paciente. Diante disso, essa revisão objetiva facilitar a melhor escolha dos métodos diagnósticos no manejo clínico do paciente. Dentre estes, é possível citar a imagem por ressonância magnética funcional, eletroneuromiografia, tomografia por emissão de pósitrons, microneurografia, teste quantitativo sensorial, biópsias de pele, estudos de condução nervosa e de potencial somatossensorial evocado. A dor, por ser um processo sensorial subjetivo, apresenta amplo espectro de manifestações clínicas. Por essa razão, é possível fazer uso de técnicas como métodos de triagem e exames complementares para um diagnóstico mais específico.

Neuropathic pain is caused by an injury or illness of the somatosensory nervous system. It is a syndromic manifestation that involves inflammatory and immune mechanisms, whose pathophysiology is still poorly understood. The spectrum of presentation of neuropathic pain is wide and, therefore, it is a challenge in clinical practice. This public health problem requires the broad technical capacity of general practitioners. It is relevant to identify the potential for chronicity of the symptom and adopt mitigating approaches to the harmful, structural, and emotional process. In this sense, the proper diagnosis of neuropathic pain is the first step in approaching the patient. Therefore, this review aims to facilitate the best choice of diagnostic methods in the clinical management of the patient. Among these, functional magnetic resonance imaging, electroneuromyography, positron emission tomography, microneurography, quantitative sensory testing, skin biopsies, nerve conduction and evoked somatosensory potential studies are possible. Pain, being a subjective sensory process, has a wide spectrum of clinical manifestations. For this reason, it is possible to make use of techniques such as screening methods and complementary exams for a more specific diagnosis.

Video Head Impulse Test e doenças do sistema nervoso central: uma revisão integrativa / Video Head Impulse Test and central nervous system diseases: a integrative review

RESUMO Objetivos verificar a aplicabilidade do Video Head Impulse Test (vHIT) em doenças do sistema nervoso central (SNC), bem como os resultados encontrados e as doenças descritas. Estratégia de pesquisa revisão integrativa da literatura, em que foi realizada a busca em nove bases eletrônicas de dados, a partir da palavra-chave "video head impulse test". Critérios de seleção foram incluídos estudos que utilizaram o vHIT no diagnóstico de doenças do SNC e excluídos os estudos publicados antes de 2009 e estudos que realizaram outros procedimentos de investigação clínica, ou que aplicaram o teste no diagnóstico de doenças vestibulares periféricas. Resultados a amostra final foi composta por 18 estudos. Os resultados verificados mostraram que o reflexo vestíbulo-ocular (RVO) tem apresentado alterações na população investigada. Foram observados achados sugestivos de acometimento central, tais como ganho ou média de ganho do RVO nos canais semicirculares verticais, inferior aos laterais, ganho aumentado, correlação negativa do ganho com a gravidade da doença na ataxia espinocerebelar tipo 3, ponto de corte de 0,70 e assimetria de ganho menor de 20% para diferenciar neurite vestibular de derrame no ramo medial da artéria cerebelar posteroinferior, ganho normal com provas oculomotoras alteradas, presença de nistagmo espontâneo vertical, além de alterações no RVO com e sem otimização visual, na perseguição sacádica e no teste de desvio de inclinação. Conclusão verificou-se que o vHIT é aplicável quanto a avaliação do RVO de alta frequência em indivíduos com doenças do SNC, uma vez que trouxe evidências clínicas sobre alterações da função vestibular periférica e central nos diferentes quadros neurológicos.

ABSTRACT Purpose To verify the applicability of the Video Head Impulse Test (vHIT) in central nervous system (CNS) diseases, as well as the results found and the diseases described. Research strategy Integrative literature review, in which nine electronic databases were searched using the keyword "video head impulse test". Selection criteria Studies that used the vHIT in the diagnosis of CNS diseases were included, and studies published before 2009, studies that performed other clinical investigation procedures or that concerned the diagnosis of peripheral vestibular diseases were excluded. Results The final sample consisted of 18 studies. The verified results show that the vestibulo-ocular reflex (VOR) has shown alteration in this population. Suggestive findings of central involvement were observed, such as lower gain or average VOR in the vertical semicircular canals than in the lateral ones, increased gain, the negative correlation of gain with disease severity in Spinocerebellar Ataxia Type 3, cutoff point of 0.70, and gain asymmetry of less than 20% to differentiate vestibular neuritis from a stroke in the medial branch of the posteroinferior cerebellar artery, normal gain with altered oculomotor tests, presence of spontaneous vertical nystagmus, as well as alterations in the VOR with and without visual enhancement, in saccadic pursuit, and the tilt deviation test. Conclusion We found that the vHIT applies to the assessment of high-frequency VOR in individuals with CNS diseases since it provided clinical evidence of changes in peripheral and central vestibular function in different neurological conditions

Research progress on precious Tibetan medicine formula in prevention and treatment of central nervous system diseases / 中国中药杂志

Precious Tibetan medicine formula is a characteristic type of medicine commonly used in the clinical treatment of central nervous system diseases. Through the summary of modern research on the precious Tibetan medicine formulas such as Ratnasampil, Ershiwuwei Zhenzhu Pills, Ershiwewei Shanhu Pills, and Ruyi Zhenbao Pills, it is found that they have obvious advantages in the treatment of stroke, Alzheimer's disease, epilepsy, angioneurotic headache, and vascular dementia. Modern pharmacological studies have shown that the mechanisms of precious Tibetan medicine formulas in improving central nervous system diseases are that they promote microcirculation of brain tissue, regulate the permeability of the blood-brain barrier, alleviate inflammation, relieve oxidative stress damage, and inhibit nerve cell apoptosis. This review summarizes the clinical and pharmacological studies on precious Tibetan medicine formulas in prevention and treatment of central nervous system diseases, aiming to provide a reference for future in-depth research and innovative discovery of Tibetan medicine against central nervous diseases.

Retrospective Analysis of Pathological Diagnosis of Central Nervous System Diseases in Tibet / 中国医学科学院学报

Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.

Impacto de brote por Covid-19 en las causas de egresos hospitalarios a nivel nacional por enfermedades del sistema nervioso central en población pediátrica durante el primer año de pandemia en Chile / Impact of Covid-19 outbreak in the causes of hospital discharges at national level due to central nervous system diseases in pediatric population during the first year of pandemic in Chile

INTRODUCCIÓN: La pandemia por Covid-19 ha generado cambios en la atención de salud nacional, observándose en este período cambios en las causas de egresos hospitalarios (EH). OBJETIVO: Analizar el impacto del brote de Covid-19 en las causas de EH por enfermedades del Sistema Nervioso Central (ESNC) en población pediátrica durante el primer año de pandemia. MÉTODO: Estudio transversal. Análisis de base de datos del Departamento de Estadística e Información en Salud en pacientes de 0 a 18 años, comparando años 2019 y 2020. RESULTADOS: En 2020 se redujeron EH por ESNC en un 39% comparado con 2019. Disminuyeron principalmente los EH por secuelas de enfermedades inflamatorias SNC, parálisis cerebral, migraña y paraplejia/cuadriplejia, aumentando los EH por isquemia cerebral transitoria, enfermedades desmielinizantes SNC y polineuropatía inflamatoria. El número EH por ESNC mensual se correlacionó con el número de casos Covid-19 (rho -0.774, p0.003) y con la movilidad mensual del país (rho 0.928, p 0.001). CONCLUSIONES: El impacto del brote Covid-19 se asoció con reducción de EH por ESNC, disminuyeron EH por patologías crónicas y aumentaron causas agudas.

INTRODUCTION: The Covid-19 pandemic has been associated with modifications in national health care, with changes in causes of hospital discharges (HD) in this period. OBJECTIVE: To analyze the impact of the Covid-19 outbreak on causes of HD due to Central Nervous System Diseases (CNSD) in pediatric population during the first year of pandemic. METHOD: Cross-sectional study. Analysis of database of the Department of Statistics and Health Information in patients aged 0 to 18 years, comparing 2019 and 2020. RESULTS: In 2020, HD due to CNSD were reduced in 39% compared to 2019. HD causes that mainly decreased were inflammatory CNS disease sequelae, cerebral palsy, migraine and paraplegia/cuadriplegia. The HD that increased were transient cerebral ischemia, CNS demyelinating diseases and inflammatory polyneuropathy. The monthly HD due to CNSD number was correlated with the number of Covid-19 cases (rho -0.774, p0.003) and with the country's monthly mobility (rho 0.928, p 0.001). CONCLUSIONS: Covid-19 pandemic was associated with a reduction in HD due to CNSD, with decrease of EH due to chronic pathologies and increase of acute diseases