Enfermedad de pequeño vaso. Relación con deterioro funcional, cognitivo y afectivo en adultos mayores con enfermedad cerebrovascular / Small vessel disease. Relationship with functional, cognitive and affective impairment in elderly adults with cerebrovascular disease

INTRODUCCIÓN: La enfermedad cerebral de pequeño vaso es una causa principal de pérdida funcional, discapacidad y deterioro cognitivo. OBJETIVO: Determinar la prevalencia de la enfermedad de pequeño vaso y características clínicas que se asocian a mayor deterioro funcional, cognitivo y afectivo en adultos mayores con enfermedad cerebrovascular atendidos en el Servicio de Neurología del Hospital Carlos Andrade Marín en el período 2020 ­ 2021. METODOLOGÍA: Estudio observacional, analítico transversal con 80 pacientes mayores de 65 años con enfermedad cerebrovascular previamente diagnosticada. Se determinó cuáles presentaban enfermedad cerebral de pequeño vaso. Se compararon los dos grupos el de enfermedad cerebro vascular isquémico con y sin enfermedad cerebral de pequeño vaso. Se midió el grado de deterioro funcional con escala de Barthel; Lawton y Brody. El deterioro cognitivo con test de Montreal Cognitive Assessment ­Basic, estado afectivo con escala de Yesavage. Se utilizó razón de momios y se consideró significativo un valor p <0,05. Se utilizó el programa Statistical Package for Social Sciences versión 25. RESULTADOS: Los hombres representaron el 51,2%. La edad promedio fue 76,2 años. Prevalencia de enfermedad cerebral de pequeño vaso (87,5%). Escala de Fazekas grado 1 (46,3%), Factores asociados con enfermedad cerebral de pequeño vaso: tabaquismo [RR: 7,27; IC 95%: 1,69-31,3); enfermedad renal crónica [RR: 4,0; IC 95%: 1,01-15,7]. Dependencia moderada [RR: 6,42; IC 95%: 1,02-40,3]. Factores asociados con pérdida funcionalidad: gravedad del ictus. Factores asociados con deterioro cognitivo: infarto con doble territorio. Factores asociados con deterioro afectivo: infarto con doble territorio y síndrome metabólico (p<0,05). CONCLUSIÓN: La enfermedad cerebral de pequeño vaso tiene una elevada prevalencia entre los adultos mayores con enfermedad cerebrovascular y representó un deterioro cognitivo, funcional y afectivo considerable, en relación a los pacientes sin esta enfermedad.

INTRODUCTION: Cerebral small vessel disease is a leading cause of functional loss, disability, and cognitive impairment. OBJECTIVE: To determine the prevalence of small vessel disease and clinical characteristics associated with greater functional, cognitive and affective impairment in older adults with cerebrovascular disease attended at the Neurology Service of the Carlos Andrade Marín Hospital in the period 2020 - 2021. METHODOLOGY: Observational, analytical cross-sectional study with 80 patients over 65 years of age with previously diagnosed cerebrovascular disease. It was determined which patients had cerebral small vessel disease. The two groups of ischemic cerebrovascular disease with and without cerebral small vessel disease were compared. The degree of functional impairment was measured with the Barthel, Lawton and Brody scales. Cognitive impairment was measured with the Montreal Cognitive Assessment-Basic test, and affective state with the Yesavage scale. Odds ratio was used and a p value <0,05 was considered significant. Statistical Package for Social Sciences version 25 was used. RESULTS: Males represented 51,2%. Mean age was 76,2 years. Prevalence of cerebral small vessel disease (87,5%). Fazekas scale grade 1 (46,3%), Factors associated with cerebral small vessel disease: smoking [RR: 7,27; 95% CI: 1,69-31,3); chronic kidney disease [RR: 4,0; 95% CI: 1,01-15,7]. Moderate dependence [RR: 6,42; 95% CI: 1,02-40,3]. Factors associated with loss of function: severity of stroke. Factors associated with cognitive impairment: infarction with double territory. Factors associated with affective impairment: dual territory infarction and metabolic syndrome (p<0.05). CONCLUSION: Cerebral small vessel disease has a high prevalence among older adults with cerebrovascular disease and represented a considerable cognitive, functional and affective deterioration, in relation to patients without this disease.

Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software / Reduções volumétricas cerebrais da síndrome de Sjogren-Larsson demonstradas com um software automatizado

Abstract Background Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and cognitive impairment. Brain imaging plays an essential role in the diagnosis, demonstrating a nonspecific leukoencephalopathy. Data regarding brain atrophy and grey matter involvement is scarce and discordant. Objective We performed a volumetric analysis of the brain of two siblings with SLS with the aim of detecting deep grey matter nuclei, cerebellar grey matter, and brainstem volume reduction in these patients. Methods Volume data obtained from the brain magnetic resonance imaging (MRI) of the two patients using an automated segmentation software (Freesurfer) was compared with the volumes of a healthy control group. Results Statistically significant volume reduction was found in the cerebellum cortex, the brainstem, the thalamus, and the pallidum nuclei. Conclusion Volume reduction in grey matter leads to the hypothesis that SLS is not a pure leukoencephalopathy. Grey matter structures affected in the present study suggest a dysfunction more prominent in the thalamic motor pathways.

Resumo Antecedentes A Síndrome de Sjogren-Larsson (SSL) é uma doença neurocutânea de herança autossômica recessiva, causada por mutações no gene que codifica a aldeído graxo desidrogenase (ALDH3A2), caracterizada clinicamente por ictiose, diplegia espástica e comprometimento cognitivo. A imagiologia cerebral desempenha um papel essencial no diagnóstico, demonstrando uma leucoencefalopatia inespecífica. Dados sobre atrofia cerebral e envolvimento da substância cinzenta são escassos e discordantes. Objetivo Realizamos uma análise volumétrica do cérebro de dois irmãos com SLS com o objetivo de detectar núcleos profundos de substância cinzenta, substância cerebral cinzenta e redução do volume do tronco encefálico nestes pacientes. Métodos Os dados de volume obtidos da ressonância magnética (RM) cerebral dos dois pacientes usando um software de segmentação automática (Freesurfer) foram comparados com os volumes de um grupo controle saudável. Resultados Redução de volume estatisticamente significativa foi encontrada no córtex do cerebelo, no tronco cerebral, no tálamo e nos núcleos pálidos. Conclusão A redução do volume da substância cinzenta leva à hipótese de que a SSL não é uma leucoencefalopatia pura. As estruturas da substância cinzenta afetadas no presente estudo sugerem uma disfunção mais proeminente nas vias motoras talâmicas.

Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group / Terapia cetogênica na infância e adolescência: recomendações do grupo de especialistas brasileiros

Abstract Ketogenic dietary therapies (KDTs) are a safe and effective treatment for pharmacoresistant epilepsy in children. There are four principal types of KDTs: the classic KD, the modified Atkins diet (MAD), the medium-chain triglyceride (MCT) diet, and the low glycemic index diet (LGID). The International Ketogenic Diet Study Group recommends managing KDTs in children with epilepsy. However, there are no guidelines that address the specific needs of the Brazilian population. Thus, the Brazilian Child Neurology Association elaborated on these recommendations with the goal of stimulating and expanding the use of the KD in Brazil.

Resumo As terapias dietéticas cetogênicas (TDC) são um tratamento seguro e eficaz para epilepsia farmacorresistente em crianças. Existem quatro tipos principais de TDCs: a dieta cetogênica (DC) clássica, a dieta de Atkins modificada (DAM), a dieta de triglicerídeos de cadeia média (DTCM) e a dieta de baixo índice glicêmico (DBIG). O Grupo Internacional de Estudos de Dietas Cetogênicas (International Ketogenic Diet Study Group) propõe recomendações para o manejo da DC em crianças com epilepsia. No entanto, faltam diretrizes que contemplem as necessidades específicas da população brasileira. Assim, a Associação Brasileira de Neurologia Infantil elaborou essas recomendações com o objetivo de estimular e expandir o uso da DC no Brasil.

Comparison between selective head cooling and whole-body cooling in neonatal therapeutic hypothermia / Comparação entre resfriamento seletivo da cabeça e resfriamento de corpo inteiro na hipotermia terapêutica neonatal

INTRODUCTION: Experimental evidence, as well as improved clinical studies of the reduction of brain injury and, improves the neurological outcome, in newborns with hypoxic-ischemic encephalopathy (HIE) occurring in therapeutic hypothermia (TH). OBJECTIVE: To verify the potential of hypothermic hypoxic-ischemic encephalopathy (HIE) therapy in neonatal asphyxia, based on literature data, comparing the benefits between selective head cooling (SHC) and whole-body cooling (WBC), see that the use of TH as a standard treatment in newborns with moderate or severe HIE has been adopted. METHODS: A search was performed in the PubMed and SciELO databases of human studies, using the keywords "Therapeutic Hypothermia", "Induced Hypothermia", and "Hypoxic-Ischemic Encephalopathy", "Selective cooling of the head", "Total body cooling" and its variables. RESULTS: Eleven articles were selected to compose the review, after detailed reading. There is a consensus, that the reduction of the risk of death or disability at 18 months of life in neonates with moderate to severe HIE, occurs to TH through the techniques of WBC or SHC. It was found in the studies that there is no difference in terms of adverse effects between the two methods. As for radiological changes, such as hypoxic-ischemic injuries and the incidence of seizures after cooling, they are more frequent with SHC. CONCLUSION: Both WBC and SHC demonstrated neuroprotective properties, although WBC provides a broader area of brain protection. However, no significant differences were found between the methods in terms of adverse effects and beneficial short or long-term results.

INTRODUÇÃO: Evidências experimentais, assim como estudos clínicos, sugerem a redução da lesão cerebral e melhora do desfecho neurológico, em recém-nascidos com encefalopatia isquêmica hipóxica (EHI) submetidos à hipotermia terapêutica (HT). OBJETIVO: Verificar a potencialidade da terapia hipotérmica de encefalopatia hipóxico-isquêmica (EHI) na asfixia neonatal, com base em dados da literatura, comparando os benefícios entre o resfriamento seletivo da cabeça (RSC) e o resfriamento de corpo inteiro (RCI), visto que o uso de hipotermia terapêutica (HT) como tratamento padrão em recém-nascidos com EHI moderada ou grave tem sido amplamente adotada. MÉTODOS: Foi realizada uma busca nas bases de dados PubMed e SciELO de estudos em humanos, utilizando-se as palavras-chave "Therapeutic Hypothermia", "Induced Hypothermia", "Hypoxic-Ischemic Encephalopathy", "selective head cooling", "whole body cooling" e suas respectivas variáveis. RESULTADOS: Foram selecionados 11 artigos para compor a revisão, após leitura detalhada. É consenso, a redução do risco de morte ou incapacidade aos 18 meses de vida nos neonatos com EHI moderado a grave, submetidos à HT através das técnicas de RCI ou RSC. Constatou-se diante dos estudos que não há diferença em termos de efeitos adversos entre os dois métodos. Quanto às alterações radiológicas, as lesões hipóxico-isquêmicas e incidência de convulsões após o resfriamento são mais frequentes com o RSC. CONCLUSÃO: Tanto RCI quanto o RSC demonstraram propriedades neuroprotetoras, embora o RCI proporcione uma área de proteção cerebral mais ampla. No entanto, não foram constatadas diferenças significativas entre os métodos quanto a efeitos adversos e a resultados benéficos em curto e longo prazo.

Genetic analysis of unexplained neonatal encephalopathy / 中华围产医学杂志

Objective:To explore the potential genetic causes of unexplained neonatal encephalopathy.Methods:This retrospective study enrolled 113 infants diagnosed with unexplained neonatal encephalopathy and underwent genetic testing in the Children's Hospital of Hunan Province from January 2019 to May 2021. Perinatal data, clinical manifestations, electroencephalograph, brain MRI findings, genetic information, and prognosis of those patients were analyzed. T-test or Chi-square test were used for data analysis. Results:Of the 113 infants enrolled, 74 (65.5%) were males. The gestational age at birth was (38.6±1.5) weeks, and the birth weight was (2 957±561) g. The most common clinical manifestation was the disturbance of consciousness (83/113, 73.5%), followed by seizures (39/113, 34.5%). There were 38.2% (34/89) of the patients with abnormal brain MRI, and 80.4% (74/92) presented abnormal electroencephalography. Among the 113 infants, 60 (53.1%) had genetic abnormalities, including 48 with single nucleotide variations, eight with copy number variations, and four with chromosome abnormalities. Single nucleotide variations in the 48 patients were classified into syndromic ( n=18, 37.5%), metabolic ( n=16, 33.3%), epileptic ( n=11, 22.9%) and mitochondrial-related genes ( n=3, 6.3%), of which 14 were not included in any database. Among the 103 cases which were successfully followed up until December 31, 2021, 75 (72.8%) had a poor prognosis, including 52 (50.5%) death cases and 23 (22.3%) cases of development retardation. Birth weight and the incidence of seizures in the poor prognosis group were both lower than those in the non-poor prognosis group [(2 876±536) vs (3 254±554) g, t=3.15; 29.3% (22/75) vs 53.6% (15/28), χ2=5.20; both P<0.05], while the incidence of disturbance of consciousness was higher [80.0% (60/75) vs 53.6% (15/28), χ2=7.19, P<0.05]. The proportion of infants with genetic abnormalities in the poor prognosis group was higher than that in the non-poor prognosis group, but the difference was not statistically significant [53.3% (40/75) vs 46.4% (13/28), χ2=0.39, P=0.533]. Conclusions:Genetic abnormality is one of the leading causes of unexplained neonatal encephalopathy. Nucleotide variation is the most common genetic type. Syndromic, metabolic, and epileptic variants are frequently detected in these patients.

Síndrome da encefalopatia posterior reversível em uma criança com síndrome inflamatória multissistêmica grave devido à COVID-19 / Posterior reversible encephalopathy syndrome in a child with severe multisystem inflammatory syndrome due to COVID-19

RESUMO A síndrome da encefalopatia posterior reversível é uma rara síndrome clínica e radiológica caracterizada por edema vasogênico da matéria branca dos lobos occipital e parietal, que geralmente são simétricos, resultante de uma manifestação secundária de disfunção aguda do sistema cerebrovascular posterior. Descrevemos um caso de síndrome de encefalopatia posterior reversível secundária à infecção por SARS-CoV-2 em um menino de 9 anos de idade que desenvolveu insuficiência respiratória hipoxêmica aguda e necessitou de ventilação mecânica assistida. A criança desenvolveu síndrome inflamatória multissistêmica e foi monitorada na unidade de terapia intensiva pediátrica, tendo-lhe sido fornecidos ventilação mecânica e agentes vasoativos para suporte hemodinâmico. Além disso, desenvolveu manifestações clínicas pulmonares e extrapulmonares juntamente de manifestações neuropsiquiátricas que necessitavam de seguimento cuidadoso, tendo sido verificadas por ressonância magnética cerebral para intervenção oportuna. Atualmente, há poucos relatos de crianças com síndrome da encefalopatia posterior reversível associada à síndrome inflamatória multissistêmica.

ABSTRACT Posterior reversible encephalopathy syndrome is a rare clinical and radiological syndrome characterized by vasogenic edema of the white matter of the occipital and parietal lobes, which are usually symmetrical, resulting from a secondary manifestation of acute dysfunction of the posterior cerebrovascular system. We describe a case of posterior reversible encephalopathy syndrome secondary to SARS-CoV-2 infection in a 9-year-old boy who developed acute hypoxemic respiratory failure and required assisted mechanical ventilation. The child developed multisystem inflammatory syndrome, and he was monitored in the pediatric intensive care unit and was provided mechanical ventilation and vasoactive agents for hemodynamic support. Additionally, he developed pulmonary and extrapulmonary clinical manifestations along with neuropsychiatric manifestations that required close follow-up and were verified using brain magnetic resonance imaging for timely intervention. Currently, there are few reports of children with posterior reversible encephalopathy syndrome associated with multisystem inflammatory syndrome.

Síndrome de encefalopatía posterior reversible en lupus eritematoso sistémico

RESUMEN El síndrome de encefalopatía posterior reversible es una entidad clínico radiológica caracterizada por manifestaciones neurológicas de inicio insidioso y progresivo producido por alteraciones de la perfusión vascular cerebral. Se presentan 2 casos de pacientes con lupus eritematoso sistémico (LES) que desarrollan el síndrome de encefalopatía posterior reversible por hipertensión arterial refractaria. Ambos casos acuden por un cuadro de dificultad respiratoria y edema generalizado, con alteraciones de perfil renal e hipertensión arterial refractaria. El primero se trata de una paciente conocida portadora de lupus eritematoso sistémico en tratamiento irregular y enfermedad renal crónica en tratamiento hemodialítico que presenta alteraciones visuales y convulsiones. El segundo se trata de una paciente con LES en tratamiento irregular y nefritis lúpica sin tratamiento que también presenta alteraciones visuales y convulsiones. Los estudios de neuroimagen en ambos pacientes muestran lesiones a nivel occipital compatibles con el síndrome de encefalopatía posterior reversible. Con la mejoría de las cifras tensionales revirtieron las manifestaciones neurológicas, excepto en el primer caso en el cual persistieron las convulsiones.

ABSTRACT Posterior reversible encephalopathy syndrome is a clinical and radiological entity characterized by neurological manifestations of insidious and progressive onset caused by alterations in cerebral vascular perfusion. We present two cases of patients with systemic lupus erythematosus (SLE) who developed posterior reversible encephalopathy syndrome due to refractory arterial hypertension. Both cases came due to respiratory distress and generalized edema, with alterations in the renal profile and refractory arterial hypertension. The first is a known female patient with systemic lupus erythematosus in irregular treatment and chronic kidney disease in hemodialysis treatment who presented visual disturbances and seizures. The second is a female patient with SLE in irregular treatment and untreated lupus nephritis who also presented visual disturbances and seizures. Neuroimaging studies in both patients show lesions at the occipital level compatible with posterior reversible encephalopathy syndrome. With the improvement in the blood pressure values, the neurological manifestations reverted in the second case but in the first case the seizures persisted.

Classificação das doenças neurometabólicas hereditárias baseada em aspectos radiológicos: ensaio iconográfico / Classification of inherited neurometabolic disorders based on radiological aspects: pictorial essay

Resumo As doenças neurometabólicas hereditárias representam um desafio diagnóstico e precisam de classificações eficientes para sua compreensão. São um grupo de doenças raras, mas atingem pelo menos um a cada mil nascimentos. Algumas têm possibilidade terapêutica. Os quadros clínico e radiológico são variáveis e, às vezes, superponíveis, a depender da fase da doença. Por isso, observam-se na literatura vários tipos de classificações, algumas de difícil aplicação prática. O objetivo deste estudo é ilustrar a classificação das doenças neurometabólicas hereditárias baseada exclusivamente em achados radiológicos. Trata-se de um estudo retrospectivo a partir de exames de imagem do sistema nervoso central, particularmente de crianças, realizados em uma rede de hospitais. Todos os casos foram estudados por tomografia computadorizada multidetectores e/ou ressonância magnética, tendo sido avaliados por dois neurorradiologistas. Consideraram-se os casos com diagnóstico definitivo. A classificação propõe 10 subgrupos, de acordo com os achados radiológicos. Todos os casos estudados apresentaram, pelo menos, um desses achados. Na maioria dos casos observou-se mais de um achado, o que aumentou a especificidade e restringiu os diagnósticos diferenciais. Após avaliar os dados de literatura e os deste estudo, demonstra-se que é possível classificar as doenças neurometabólicas hereditárias pelo aspecto radiológico, o que favorece um diagnóstico definitivo.

Abstract Inherited neurometabolic disorders represent a diagnostic challenge, and an efficient classification system is needed in order to improve the understanding of these diseases. Although they constitute a group of rare diseases, they have a collective incidence of at least one case per 1,000 live births. Some inherited neurometabolic disorders are treatable. The clinical and radiological presentations are variable and sometimes overlap, depending on the stage of the disease. Therefore, a number of classification systems have been devised, some of which are difficult to apply in practice. The aim of this study was to illustrate a classification system for inherited neurometabolic disorders, based exclusively on radiological findings. This was a retrospective study of imaging examinations of the central nervous system, particularly of children, performed in a network of hospitals. All of the cases were studied by multidetector computed tomography, magnetic resonance imaging, or both, the images having been obtained by two neuroradiologists. We included only cases in which a definitive diagnosis was made. The classification system separates the relevant radiological findings into 10 categories. All of the cases studied presented at least one of those findings. In most of the cases, more than one finding was observed, which increased specificity and narrowed the differential diagnosis. Data from the literature and from this study demonstrate that it is possible to classify inherited neurometabolic disorders by their radiological aspects, which favors a definitive diagnosis.

Application and research of smart wearable devices for heart and brain diseases related to high altitude / 生物医学工程学杂志

Smart wearable devices play an increasingly important role in physiological monitoring and disease prevention because they are portable, real-time, dynamic and continuous.The popularization of smart wearable devices among people under high-altitude environment would be beneficial for the prevention for heart and brain diseases related to high altitude. The current review comprehensively elucidates the effects of high-altitude environment on the heart and brain of different population and experimental subjects, the characteristics and applications of different types of wearable devices, and the limitations and challenges for their application. By emphasizing their application values, this review provides practical reference information for the prevention of high-altitude disease and the protection of life and health.

Research progress in brain rehabilitation in the elderly / 中华老年医学杂志

Brain rehabilitation is a comprehensive rehabilitation method for motor, sensory, cognitive, speech, swallowing and other functional disorders caused by brain diseases(such as stroke, Parkinson's disease, craniocerebral trauma, etc.). Timely and effective brain rehabilitation intervention can effectively improve motor, speech, cognitive and other abilities of elderly patients with cerebrovascular disease, thus improving their ability for daily living activities, improving the quality of life, reducing the burden for their families and society, and achieving the long-term goal of returning to society.In this paper, recent research progress in brain rehabilitation is summarized in order to explore more diversified rehabilitation modes for brain rehabilitation in the elderly.

Síndrome da encefalopatia posterior reversível em paciente com COVID-19 submetida à oxigenação por membrana extracorpórea / Posterior reversible encephalopathy syndrome in a patient submitted to extracorporeal membrane oxygenation for COVID-19

RESUMO Uma mulher com 63 anos de idade compareceu ao pronto-socorro com história aguda de febre, prostração e dispneia. Recebeu diagnóstico de quadro grave da COVID-19 e síndrome do desconforto respiratório agudo. Apesar de suporte clínico intensivo, cumpriu os critérios para ser submetida à oxigenação venovenosa por membrana extracorpórea. No dia 34, após 7 dias de desmame da sedação com evolução positiva de seu quadro neurológico, apresentou uma crise tônico-clônica generalizada limitada, não relacionada com desequilíbrio hidroeletrolítico ou metabólico, que levou à necessidade de investigação diagnóstica. Seus exames de imagem cerebral revelaram síndrome da encefalopatia posterior reversível. Este caso enfatiza a questão das complicações neurológicas em pacientes com COVID-19 grave e a importância do diagnóstico e suporte precoces.

ABSTRACT A 63-year-old woman presented to the emergency department with an acute history of fever, prostration and dyspnea. She was diagnosed with severe COVID-19 acute respiratory distress syndrome and, despite optimized critical care support, met the indications for veno-venous extracorporeal membrane oxygenation. On day 34, after 7 days of wean sedation with a positive evolution of neurologic status, she presented a limited generalized tonic-clonic seizure not related to hydroelectrolytic or metabolic imbalance, which led to a diagnostic investigation; her brain imaging tests showed a posterior reversible encephalopathy syndrome. This case emphasizes the issue of neurological complications in patients with severe COVID-19 infection and the importance of early diagnosis and support.

Encefalopatía subaguda en una paciente con policondritis recidivante: caso clínico / Subacute encephalopathy associated with relapsing polychondritis: report of one case

Relapsing polychondritis (RP) is a rare multisystemic autoimmune disorder characterized by the inflammation and destruction of cartilages, with preference for auricular, nasal and laryngotracheal cartilages. RP may also affect proteoglycan-rich structures, such as, blood vessels, eyes, kidneys, and heart. The central nervous system (CNS) is involved in less than 3% of patients. We report a 32-year-old female with RP associated with a progressive subacute encephalopathy characterized by behavioral disturbances, auditory and visual hallucinations. The EEG showed generalized slow activity and a mononuclear pleocytosis with increased protein was found in the cerebrospinal fluid. The brain magnetic resonance imaging showed multiple supra and infratentorial nodular inflammatory lesions. After initiating treatment with corticosteroids and cyclophosphamide, a significant improvement in chondritis and neurological status was observed.

Probable first report of a motor deafferentation syndrome in the Paraguayan War / Provável primeiro relato de uma síndrome de desaferentação motora na Guerra do Paraguai

ABSTRACT The Paraguayan War ended 150 years ago. Back then, there were outbreaks of combatants' limb weakness and tingling related to "palustrian cachexia", not clearly funded at the time on nutritional deficiency, the use of native flora to feed troops, and alcoholism. We report a case of a soldier with ascending paralysis, mental confusion and finally tetraplegia with preserved oculomotricity. This would probably be a case of locked-in syndrome (LIS) due to Gayet-Wernicke's encephalopathy consequent to thiamine deficiency. The role of thiamine in the peripheral or central nervous system expression was shown decades later to be related to poor diet, or use of foods containing thiaminase or thiamine antagonists, worsened by the fact that the bodily stores of thiamine are restricted, and deficits may grow fast.

RESUMO A Guerra do Paraguai terminou há 150 anos. Houve surtos de fraqueza dos membros dos combatentes e parestesias relacionadas à "caquexia palustre", não claramente fundamentados na época sobre deficiência nutricional, o uso da flora nativa para alimentar as tropas e o alcoolismo. Referimo-nos a um caso de um militar com paralisia ascendente, confusão mental e finalmente tetraplegia com oculomotricidade preservada. Esse relato seria provavelmente devido a um caso de "síndrome do encarceramento" secundário à encefalopatia de Gayet-Wernicke consequente à deficiência de tiamina. O papel da tiamina na expressão periférica ou do SNC foi previsto décadas mais tarde em relação a uma dieta pobre, ou ao uso de alimentos contendo tiamina ou antagonistas da tiamina, agravado pelo fato de que as reservas corporais de tiamina são restritas, e os déficits podem se manifestar rapidamente.

Encefalopatia reversível induzida por contraste após embolização com espiras por epistaxe / Reversible contrast-induced encephalopathy after coil embolization of epistaxis

RESUMO Uma mulher com 37 anos de idade, gestante de 35 semanas, foi admitida em um hospital local em razão de epistaxe grave, que resultou em choque e em necessidade de realização de cesárea emergencial. Após falha do tamponamento para controlar a hemorragia, decidiu-se por tratamento angiográfico. Após o procedimento, ela foi admitida à unidade de terapia intensiva neurocrítica, encontrando-se confusa e agitada, com necessidade de sedação e intubação orotraqueal. Na unidade de terapia intensiva, as investigações incluíram exames de ressonância magnética, punção lombar com painel viral, eletroencefalograma, testes para autoimunidade e avaliações hidroeletrolítica e metabólica. O exame de ressonância magnética mostrou área puntiforme restrita na corona radiata esquerda nas sequências de imagens pesadas em difusão, além de leve edema cortical posterior (sem restrição à difusão), e o eletroencefalograma mostrou atividade lenta difusa moderada, atividade frontoparietal lenta e escassos componentes paroxísticos associados no hemisfério esquerdo. Outros exames não mostraram alterações relevantes. Por causa da relação temporal e da história clínica, assim como imagens de ressonância magnética, formulou-se o diagnóstico de encefalopatia induzida por contraste. A sedação foi retirada após 2 dias na unidade de terapia intensiva, e a paciente foi extubada, verificando-se completa recuperação neurológica dentro das 24 horas seguintes.

ABSTRACT A 37-year-old woman (35 weeks pregnant) was admitted to a local hospital due to severe epistaxis resulting in shock and the need for emergency cesarean section. After failure to tamponade the bleeding, angiographic treatment was provided. After the procedure, she was admitted to the neurocritical intensive care unit and was confused and agitated, requiring sedation and endotracheal intubation. In the intensive care unit, diagnostic investigations included brain magnetic resonance imaging, lumbar puncture with viral panel, electroencephalogram, tests for autoimmunity, and hydroelectrolytic and metabolic evaluations. Magnetic resonance imaging showed a puntiform restricted diffusion area on the left corona radiata on diffusion weighted imaging and mild cortical posterior edema (without restricted diffusion), and an electroencephalogram showed moderate diffuse slow activity and fronto-temporal slow activity of the left hemisphere with associated scarce paroxysmal components. The other exams did not show any relevant alterations. Due to the temporal relationship, the clinical history and the magnetic resonance imaging results, a diagnosis of contrast-induced encephalopathy was made. After 2 days in the intensive care unit, sedation was withdrawn, the patient was extubated, and total neurological recovery was verified within the next 24 hours.

A propósito de complicaciones infrecuentes de enfermedades comunes. Síndrome de Ekiri / About Infrequent complications of common diseases: Ekiri Syndrome

Resumen La infección por enterobacterias desencadena usualmente síntomas gastrointestinales caracterizados por vómito, diarrea y dolor abdominal, de severidad y curso variable. El compromiso extraintestinal esta descrito, inclusive sin las manifestaciones gastrointestinales clásicas lo que favorece diagnósticos y tratamientos tardíos pudiendo llegar a ser incapacitantes y letales. El síndrome de Ekiri, también denominado síndrome de encefalopatía letal tóxico, se caracteriza por una disfunción aguda del sistema nervioso central secundaria a infección por enterobacterias las cuales favorecen el desarrollo de microtrombos a nivel cerebral con inflamación mediada por el factor de necrosis tumoral α e IL- 1β y disfunción de la barrera hematoencefálica con una alta tasa de mortalidad. Dentro de nuestro conocimiento, presentamos el primer caso reportado en Colombia sobre el síndrome de Ekiri.

Abstract Gastrointestinal infection usually manifests with nausea, vomit and abdominal pain, all of them wit course and variable severity. Extrainstestinal compromise is described, even without gastrointestinal symptoms, what causes a delay on diagnosis and treatment, worsening the prognosis. Ekiri syndrome, also known as lethal toxic encephalopathy is characterized by an acute neurological dysfunction secondary to enterobacterial infection which favor thrombi development and local inflammation mediated by tumor necrosis factor alpha and IL-1β with blood brain barrier dysfunction and high mortality. As we know, we present the first Ekiri syndrome case reported in Colombia.

Encefalomielitis aguda diseminada: simulando enfermedad cerebrovascular en un adolescente / Acute disseminated encephalomyelitis: simulating cerebrovascular disease in an adolescent

RESUMEN La encefalomielitis aguda diseminada (ADEM) es una enfermedad desmielinizante del sistema nervioso central (SNQ, de baja prevalencia, con predominio de presentación en población pediátrica. Describir y revisar la presentación clínica de un paciente con ADEM, su proceso diagnóstico y el manejo terapéutico, de acuerdo con la evidencia disponible. Adolescente masculino de 17 años, sin antecedentes de importancia, con cuadro de cefalea hemicraneal derecha, tipo punzada, de alta intensidad, dos semanas de evolución y posterior compromiso agudo neurológico multifocal con encefalopatía, hemiparesia y diplopía. Se realiza estudio con resonancia de cerebro contrastada que pone en evidencia lesiones hiperintensas a nivel de tallo, cerebelo y ganglios basales. Estas lesiones son asimétricas, unilaterales y agudas y siguen el trayecto vascular de la arteria cerebelosa posteroinferior (PICA), sin restricción a la difusión o cambios en mapa ADC. Inicialmente se sospecha evento cerebrovascular (ECV) y se estudia con angiorresonancia normal, ayudas diagnósticas para causas cardioembólicas y trombofilias negativas. Al considerar lesiones no se sugieren cambios de origen isquémico, pero si desmielinizantes. Se inicia manejo con pulsos de metilprednisolona con resolución de hemiparesia y encefalopatía. En seguimiento a 18 meses, el paciente no ha presentado nuevos eventos clínicos o radiológicos. La ADEM es una patología infrecuente en la edad pediátrica, con un diagnóstico basado en la clínica y hallazgos imagenológicos en resonancia magnética. Su presentación clínica puede ser inespecífica y como en este caso simular enfermedad cerebrovascular, y el tratamiento se basa en inmunomoduladores, principalmente corticoides, con una tasa de recuperación favorable en las series previamente reportadas.

SUMMARY Acute disseminated encephalomyelitis (ADEM) is a low-prevalence demyelinating disease of the central nervous system (CNS) with a predominance of presentation in the pediatric population. To describe and review the clinical presentation of a patient with ADEM, its diagnostic process and therapeutic management according to the available evidence. A 17-year-old male adolescent, with a 2-week history of high-intensity right-sided headache, stitching type, subsequent acute multifocal neurological compromise with encephalopathy, hemiparesis, and diplopia. A contrast-enhanced brain resonance study with evidence of hyperintense lesions at the level of the stem, cerebellum, and basal ganglia, asymmetric, unilateral, acute, following the vascular path of the posteroinferior cerebellar artery (PICA), but without restriction to diffusion or changes on the ADC map, so that an initial suspicion of cerebrovascular event (CVD) is made, studying with normal angioresonance, diagnostic aids for negative cardioembolic causes and thrombophilias. Considering that lesions do not suggest changes of ischemic origin, but if they are demyelinating, management with methylprednisolone pulses with resolution of hemiparesis and encephalopathy is initiated. In the 18-month follow-up, the patient has not presented new clinical or radiological events. ADEM, is an infrequent pathology in pediatric age, with a diagnosis based on the clinic and magnetic resonance imaging findings, its clinical presentation may be nonspecific and as in this case simulate cerebrovascular disease, the treatment is based on immunomodulatory treatment, mainly corticosteroids, with a favorable recovery rate in the previously reported series.

Tendência da Mortalidade por Doenças Cerebrovasculares no Brasil (1996-2015) e Associação com Desenvolvimento Humano e Vulnerabilidade Social / Cerebrovascular Disease Mortality Trend in Brazil (1996 To 2015) and Association with Human Development Index and Social Vulnerability

Resumo Fundamento As doenças cerebrovasculares (DCBV) constituem a segunda causa de mortes no mundo. Objetivo Analisar a tendência da mortalidade por DCVB no Brasil (1996-2015) e associação com o índice de desenvolvimento humano (IDH) e o índice de vulnerabilidade social (IVS). Métodos Trata-se de estudo ecológico envolvendo as taxas de mortalidade padronizadas por DCBV. Os dados dos óbitos foram obtidos do Sistema de Informações sobre Mortalidade e os dados populacionais, do Instituto Brasileiro de Geografia e Estatística. Para as análises temporais, foi utilizado o modelo de regressão por pontos de inflexão, sendo calculado o percentual de variação anual (annual percent change [APC]) e médio do período (average annual percent change [AAPC]), com intervalo de confiança de 95% e significância de 5%. As tendências foram classificadas em crescente, decrescente ou estacionária. O modelo de regressão multivariada foi utilizado para testar a associação entre a mortalidade por DCBV, IDH e IVS. Resultados Foram registrados 1.850.811 óbitos por DCBV no período estudado. Observou-se redução da taxa de mortalidade nacional (APC: -2,4; p = 0,001). Vinte unidades federativas apresentaram tendências significativas, sendo 13 de redução, incluindo todos das regiões Centro-Oeste (n = 4), Sudeste (n = 4) e Sul (n = 3). O IDH teve associação positiva e o IVS, associação negativa com a mortalidade (p = 0,046 e p = 0,026, respectivamente). Conclusão O estudo mostrou comportamento epidemiológico desigual da mortalidade entre as regiões, sendo maior nos estados do Sudeste e Sul, porém com tendência significativa de redução, e menor nos estados do Norte e Nordeste, mas com tendência significativa de crescimento. O IDH e o IVS associaram-se com a mortalidade. (Arq Bras Cardiol. 2021; 116(1):89-99)

Abstract Background Cerebrovascular diseases (CBVD) are the second major cause of death in the world. Objective To analyze the mortality trend of CBVD in Brazil (1996 to 2015) and its association with Human Development Index (HDI) and the Social Vulnerability Index (SVI). Methods This is an ecological study. We analyzed the mortality rate standardized by CBVD. Death data were obtained from the Mortality Information System (SIM) and populational data from the Brazilian Institute of Geography and Statistics (IBGE). The model of regression by inflection points (Joinpoint regression) was used to perform the temporal analysis, calculating the Annual Percent Change (APC) and Average Annual Percent Change (AAPC), with 95% of confidence interval and a significance of 5%. Trends were classified as increasing, decreasing or stationary. A multivariate regression model was used to analyze the association between mortality by CBVD, HDI and SVI. Results During this period, 1,850,811 deaths by CBVD were recorded. We observed a reduction in the national mortality rate (APC -2.4; p = 0.001). Twenty federation units showed a significant trend, of which 13 showed reduction, including all states in the Midwest (n=4), Southeast (n=4) and South (n=3). The HDI was positively associated and the SVI was negatively associated with mortality (p = 0.046 and p = 0.026, respectively). Conclusion An unequal epidemiological course of mortality was observed between the regions, being higher in the Southeast and South states, with a significative tendency of reduction, and lower in the North and Northeast states, but with a significative tendency of increase. HDI and SVI showed an association with mortality. (Arq Bras Cardiol. 2021; 116(1):89-99)

Síndrome de encefalopatía posterior reversible secundario a trastornos hipertensivos del embarazo. Serie de casos / Posterior reversible encephalopathy syndrome secondary to hypertensive disorders of pregnancy. Case series

Resumen OBJETIVO: Describir las características clínicas e imagenológicas de pacientes con encefalopatía posterior reversible atendidas en una unidad de cuidados intensivos. MATERIALES Y MÉTODOS: Estudio retrospectivo, descriptivo y transversal de serie de casos efectuado en pacientes con diagnóstico de encefalopatía posterior reversible secundaria a trastornos hipertensivos atendidas en la unidad de cuidados intensivos del Hospital Universitario de la Samaritana, Bogotá, Colombia, entre el 1 de enero de 2013 y el 31 de diciembre de 2020. RESULTADOS: Se encontraron 12 pacientes con encefalopatía posterior reversible; 8 de ellas con inicio durante el puerperio inmediato y 4 en el puerperio mediato. Se diagnosticó eclampsia en 6 pacientes durante el embarazo y en 5 durante el posparto. Los síntomas más comunes fueron: cefalea y convulsiones. Los hallazgos imagenológicos mostraron edema con mayor frecuencia en los lóbulos posteriores del cerebro; sobre todo en el occipital bilateral y parietooccipital. Todas las pacientes fueron dadas de alta del hospital sin lesiones neurológicas irreversibles. CONCLUSIONES: La encefalopatía posterior reversible es poco común pero debe considerarse en las pacientes con síntomas neurológicos concomitantes con los trastornos hipertensivos del embarazo. Si bien la muestra es de pocos casos, sí puede mencionarse que el diagnóstico radiológico con resonancia magnética cerebral, el tratamiento oportuno y las intervenciones multidisciplinarias disminuyen el riesgo de lesiones neurológicas irreversibles y el desenlace fatal.

Abstract OBJECTIVE: To describe the clinical and imaging characteristics of patients with posterior reversible encephalopathy seen in an intensive care unit. MATERIALS AND METHODS: Retrospective, descriptive, cross-sectional case series study performed in patients with a diagnosis of reversible posterior encephalopathy secondary to hypertensive disorders attended in the intensive care unit of the Hospital Universitario de la Samaritana, Bogotá, Colombia, between January 1, 2013 and December 31, 2020. RESULTS: We found 12 patients with reversible posterior encephalopathy; 8 of them with onset during the immediate puerperium and 4 in the mediate puerperium. Eclampsia was diagnosed in 6 patients during pregnancy and in 5 during the postpartum period. The most common symptoms were headache and convulsions. Imaging findings showed edema most frequently in the posterior lobes of the brain, especially in the bilateral occipital and parietooccipital lobes. All patients were discharged from the hospital without irreversible neurological lesions. CONCLUSIONS: Reversible posterior encephalopathy is uncommon but should be considered in patients with neurologic symptoms concomitant with hypertensive disorders of pregnancy. Although the sample is small, it can be mentioned that radiological diagnosis with brain magnetic resonance imaging, timely treatment and multidisciplinary interventions decrease the risk of irreversible neurological lesions and fatal outcome.

Aplicación de la escala de MELD en los pacientes del Programa de Trasplante Hepático / Application of the MELD scale in patients of the Liver Transplant Program

INTRODUCCIÓN. La escala Model for End-Stage Liver Desease se utiliza para conocer el estadio de la enfermedad hepática y para la asignación de órganos en los pacientes candidatos a trasplante. OBJETIVO. Validar la utilidad de la escala en pacientes adultos del Programa de Trasplante Hepático y su aplicación en la priorización de injertos para pacientes en lista de espera. MATERIALES Y MÉTODOS. Estudio observacional, descriptivo. De una población de 103 Historias Clínicas, se tomó una muestra de 95 registros del Programa de Trasplante Hepático del Hospital de Especialidades Carlos Andrade Marín en el período mayo 2016 a marzo 2020. Criterios de inclusión: datos de pacientes con diagnóstico de enfermedad hepática terminal, de ambos sexos, con edades comprendidas entre 14 y 65 años. La información se tomó del sistema AS400 y se analizaron en el programa estadístico International Business Machines Statistical Package for the Social Sciences, versión 23.0 y el estimador Kaplan-Meier. RESULTADOS. La sobrevida en lista de espera fue del 86,3% (82; 95) y en el post trasplante del 72,5% (44; 62) a los 12 meses y 68,9% (42; 62) a los 46 meses de seguimiento. DISCUSIÓN. Esta escala se consideró para los pacientes graves, asignándoles un puntaje que les permitió tener la opción de recibir un trasplante en relación a otros pacientes. CONCLUSIÓN. Se validó la utilidad de la escala, no se encontró diferencia significativa, pero mantuvo el principio de prioridad para los pacientes con mayor severidad.

INTRODUCTION. The Model for End-Stage Liver Desease scale is used to determine the stage of liver disease and for organ allocation in transplant candidates. OBJECTIVE. To validate the usefulness of the scale in adult patients of the Liver Transplantation Program and its application in the prioritization of grafts for patients on the waiting list. MATERIALS AND METHODS. Observational, descriptive study. From a population of 103 Medical Records, a sample of 95 records was taken from the Liver Transplantation Program of the Carlos Andrade Marín Specialty Hospital in the period may 2016 to march 2020. Inclusion criteria: data from patients with a diagnosis of terminal liver disease, of both sexes, aged between 14 and 65 years. The information was taken from the AS400 system and analyzed using the International Business Machines Statistical Package for the Social Sciences, version 23.0 and the Kaplan-Meier estimator. RESULTS. Survival on the waiting list was 86,3% (82; 95) and post-transplant survival was 72,5% (44; 62) at 12 months and 68,9% (42; 62) at 46 months of follow up. DISCUSSION. This scale was considered for seriously ill patients, assigning them a score that allowed them to have the option of receiving a transplant in relation to other patients. CONCLUSIONS. The utility of the scale was validated, no significant difference was found, but it maintained the principle of priority for patients with greater severity.

Neuroimágenes atípicas en pacientes con COVID-19 en el Perú: reporte de casos / Atypical neuroimaging in patients with COVID-19 in Peru: case report

RESUMEN El reporte de manifestaciones neurológicas en pacientes con COVID-19 se ha incrementado significativamente en los últimos meses. Sin embargo, los hallazgos de neuroimágenes han sido pobremente documentados debido a las restricciones por la necesidad de aislamiento de estos pacientes. Se reportan dos casos de pacientes con COVID-19 con clínica neurológica, a quienes se les realizó estudios de imagen cerebral y presentaron hallazgos atípicos en la resonancia magnética de encéfalo. Es necesario descripciones más detalladas y mejor documentadas de las manifestaciones neurológicas en los pacientes hospitalizados con COVID-19 y sus respectivos correlatos en neuroimágenes para lograr un mejor conocimiento de la enfermedad.

ABSTRACT Reports describing neurological manifestations in patients with COVID-19 have substantially increased in the past months. Nevertheless, findings from neuroimaging studies have been poorly documented because of restrictions due to the need for isolating such patients. Two cases of patients with COVID-19 and clinical neurological manifestations are reported. They underwent brain imaging studies and atypical findings were made in cerebral magnetic resonance imaging. It is necessary to have more detailed and better documented descriptions of neurological manifestations in patients hospitalized with COVID-19 and their respective neuroimaging correlates in order to obtain better knowledge of this condition.