Tratamiento y evolución de la encefalitis inmunomediada en edad pediátrica, serie de casos / Treatment and outcome of immune-mediated encephalitis in children, a case series

Introducción: La encefalitis por anticuerpos contra el receptor N-metil.D.aspartato (NMDA-R) es un trastorno inflamatorio del sistema nervioso central (SNC) en el cual autoanticuerpos dirigidos hacia la subunidad NR1 del receptor N-metil-D aspartato (NMDA) desarrollan un conjunto de síntomas neuropsiquiátricos, convulsiones y movimientos anormales. El tratamiento recomendado incluye metilprednisolona (MP) y gamaglobulina (IVIg), y/o recambio plasmático terapéutico (RPT); y en caso de no respuesta: rituximab (RTX) y/o ciclofosfamida (CFM). Objetivos: Analizar características clínicas, bioquímicas, electroencefalograma (EEG), resonancia magnética (RM) cerebral, tratamientos recibidos y resultados observados en una serie de pacientes con encefalitis autoinmune (EA) probable o confirmada. Materiales y métodos: Analizamos las historias clínicas de pacientes menores a 17 años que cumplían criterios diagnósticos de Graus (2016) para EA probable, con seguimiento mayor a 6 meses, internados en el Hospital Garrahan entre 2008 y 2023. El diagnóstico se definió por la identificación de anticuerpos anti-NMDAR (N-metil D-aspartato) en líquido cefalorraquídeo (LCR) por ensayo basado en células - cell bassed assay (CBA). Resultados: Reunieron criterios de EA probable 94 pacientes con una edad media de 89.5 meses, 51% mujeres. Se dividieron en dos grupos: seropositivos y seronegativos de acuerdo al resultado del biomarcador. Seropositivos 45/94. El síntoma inicial más frecuente fue: convulsiones. El 28% requirió ingreso a Unidad de Cuidados Intensivos (UCI). 4 pacientes seropositivos y 1 seronegativo tuvieron encefalitis por el virus del herpes simple (Om) previamente. En una paciente seronegativa se diagnosticó teratoma ovárico. Hallazgos de estudios complementarios: LCR patológico en el 29%, RM cerebral en el 52%, EEG en el 74%. El tratamiento de primera línea más empleado fue MP + IVIg. El 46% de los pacientes presentó recuperación completa. Entre los pacientes que recibieron RTX, el 65% tuvo una recuperación completa. Ningún paciente que recibió RTX presentó recaída. Conclusión: Ante la sospecha de EA se debe considerar el inicio temprano de inmunoterapia para favorecer la rápida recuperación funcional. Se recomienda el uso temprano de RTX en los casos con presentación grave o respuesta subóptima al tratamiento de primera línea para beneficiar la respuesta clínica y reducir el riesgo de recaída (AU)

Introduction: Encephalitis due to antibodies against the N-methyl-D-aspartate receptor (NMDA-R) is an inflammatory disorder of the central nervous system (CNS) in which autoantibodies directed against the NR1 subunit of the N-methyl-D-aspartate (NMDA) receptor develop a set of neuropsychiatric symptoms, seizures, and abnormal movements. The recommended treatment includes methylprednisolone (MP) and intravenous immunoglobulin (IVIg), and/or therapeutic plasma exchange (TPE); and in case of non-response: rituximab (RTX) and/or cyclophosphamide (CFM). Objectives: To analyze clinical, biochemical, electroencephalogram (EEG), magnetic resonance imaging (MRI) of the brain, treatments received, and outcomes observed in a series of patients with probable or confirmed autoimmune encephalitis (AE). Materials and methods: We analyzed the medical records of patients under 17 years of age who met Graus' diagnostic criteria (2016) for probable AE, with follow-up of more than 6 months, hospitalized at Hospital Garrahan between 2008 and 2023. Diagnosis was defined by the identification of anti-NMDAR antibodies (N-methyl D-aspartate) in cerebrospinal fluid (CSF) by cell-based assay (CBA). Results: Ninety-four patients met criteria for probable AE with a mean age of 89.5 months, 51% female. They were divided into two groups: seropositive and seronegative according to the biomarker result. Seropositive 45/94. The most frequent initial symptom was seizures. Twenty-eight percent required admission to the Intensive Care Unit (ICU). Four seropositive patients and one seronegative patient had previously had herpes simplex encephalitis (Om). Ovarian teratoma was diagnosed in one seronegative patient. Findings of complementary studies: Pathological CSF in 29%, brain MRI in 52%, EEG in 74%. The most commonly used first-line treatment was MP + IVIg. Forty-six percent of patients experienced complete recovery. Among patients who received RTX, 65% had complete recovery. No patient who received RTX experienced relapse. Conclusion: In the suspicion of AE, early initiation of immunotherapy should be considered to promote rapid functional recovery. Early use of RTX is recommended in cases with severe presentation or suboptimal response to first-line treatment to benefit clinical response and reduce the risk of relapse (AU)

Circulating biomarker- and magnetic resonance-based nomogram predicting long-term outcomes in dilated cardiomyopathy / 中华医学杂志(英文版)

BACKGROUND@#Dilated cardiomyopathy (DCM) has a high mortality rate and is the most common indication for heart transplantation. Our study sought to develop a multiparametric nomogram to assess individualized all-cause mortality or heart transplantation (ACM/HTx) risk in DCM patients.@*METHODS@#The present study is a retrospective cohort study. The demographic, clinical, blood test, and cardiac magnetic resonance imaging (CMRI) data of DCM patients in the tertiary center (Fuwai Hospital) were collected. The primary endpoint was ACM/HTx. The least absolute shrinkage and selection operator (LASSO) Cox regression model was applied for variable selection. Multivariable Cox regression was used to develop a nomogram. The concordance index (C-index), area under the receiver operating characteristic curve (AUC), calibration curve, and decision curve analysis (DCA) were used to evaluate the performance of the nomogram.@*RESULTS@#A total of 218 patients were included in the present study. They were randomly divided into a training cohort and a validation cohort. The nomogram was established based on eight variables, including mid-wall late gadolinium enhancement, systolic blood pressure, diastolic blood pressure, left ventricular ejection fraction, left ventricular end-diastolic diameter, left ventricular end-diastolic volume index, free triiodothyronine, and N-terminal pro-B type natriuretic peptide. The AUCs regarding 1-year, 3-year, and 5-year ACM/HTx events were 0.859, 0.831, and 0.840 in the training cohort and 0.770, 0.789, and 0.819 in the validation cohort, respectively. The calibration curve and DCA showed good accuracy and clinical utility of the nomogram.@*CONCLUSIONS@#We established and validated a circulating biomarker- and CMRI-based nomogram that could provide a personalized prediction of ACM/HTx for DCM patients, which might help risk stratification and decision-making in clinical practice.

Salivary Metabolites in Patients with Mucopolysaccharidosis

ABSTRACT Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods: The participants were asked to refrain from eating and drinking for one hour before sampling, performed between 7:30 and 9:00 a.m. Samples were centrifuged at 10.000 × g for 60 min at 4°C, and the supernatants (500µl) were stored at −80°C until NMR analysis. The salivary proton nuclear magnetic resonance (1H-NMR) spectra were acquired in a 500 MHz spectrometer, and TOCSY experiments were used to confirm and assign metabolites. Data were analyzed descriptively. Results: Differences in salivary metabolites were found among MPS types and the control, such as lactate, propionate, alanine, and N-acetyl sugar. Understanding these metabolite changes may contribute to precision medicine and early detection of mucopolysaccharidosis and its monitoring. Conclusion: The composition of low molecular weight salivary metabolites of mucopolysaccharidosis subjects may present specific features compared to healthy controls.

¿Existe correlación metabólica hipoglucémica y el síndrome de Percheron? Reporte de caso / Is there a metabolic correlation between hypoglycemia and Percheron syndrome? Case report

Introducción: El síndrome de Percheron es causa de lesiones isquémicas talamicas bilaterales ocasionando una serie de anomalías clínicas como: alteración del estado de conciencia, oftalmoplejias, y alteraciones de la memoria. Caso clínico: Presentamos el caso de una mujer de 49 años con diabetes mellitus, mal control metabólico, episodios hipoglucémicos e hiperglucemicos repetitivos, quien cursa con sintomatologia inespecífica, se realizan estudios imagenológicos no invasivos documentado lesiones talamica bilaterales. Conclusiones: Los cuadros subagudos e isquémicos parciales que involucran la región paramediana del Talamo bilateral podrían tener alguna relación con episodios hipoglucémicos e hiperglucemicos repetitivos, que pueden llegar a cursar con sintomatología leve e inespecífica, lo cual lo convierte un reto diagnóstico para este síndrome.

Introduction: Percheron syndrome is the cause of bilateral thalamic ischemic lesions, causing a series of clinical abnormalities such as an altered state of consciousness, ophthalmoplegia, and memory alterations. Clinical case: We present the case of 49-year-old woman with diabetes mellitus, poor metabolic control, and repetitive hypoglycemic and hyperglycemic episodes with nonspecific symptoms, non-invasive imaging studies were performed, which documented bilateral thalamic lesions. Conclusions: Subacute and partial ischemic symptoms that involve the paramedian region of the bilateral thalamus could have some relationship with repetitive hypoglycemic and hyperglycemic episodes, and can lead to mild and nonspecific symptoms, which makes it a diagnostic challenge for this syndrome.

Miocardiopatía Hipertrófica en ausencia de criterios de hipertrofia. Serie de casos / Hypertrophic cardiomyopathy in the absence of hypertrophy criteria. Case series

La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.

Desafios do rastreamento do câncer de mama / Challenges of breast cancer screening

A mamografia é o método de eleição para o rastreamento do câncer de mama, sendo o único que demonstra redução de mortalidade na população de risco habitual. A periodicidade de realização e a idade de início do rastreamento mamográfico são um tema controverso na literatura. Entretanto, dados no nosso país apontam para uma porção significativa de neoplasia de mamas em mulheres abaixo dos 50 anos. A Federação Brasileira das Associações de Ginecologia e Obstetrícia (Febrasgo), a Sociedade Brasileira de Mastologia (SBM) e o Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR) concordam que o rastreamento mamográfico deveria ser realizado, anualmente, por todas as mulheres a partir de 40 anos de idade. No Brasil, há uma distribuição desigual de mamógrafos nas várias regiões. As políticas de rastreamento devem considerar essa desigualdade. A grande maioria dos serviços no Brasil realiza rastreamento oportunístico para o câncer de mama. A implantação de rastreamento organizado por faixa etária e estratificação de risco pode otimizar os custos do sistema público de saúde. Pacientes de alto risco precisam ser rastreadas de forma diferente das pacientes de risco habitual. Essas pacientes precisam ter acesso à ressonância magnética das mamas e também iniciar seu rastreamento em idade mais precoce. O protocolo abreviado da ressonância magnética para rastreamento de pacientes de alto risco para câncer de mama pode melhorar a adesão e o acesso dessas pacientes ao programa de rastreamento. A ultrassonografia das mamas não é método de rastreamento isoladamente. Entretanto, ela tem seu papel como método complementar à mamografia e à ressonância magnética em cenários específicos, bem como em substituição à ressonância magnética em pacientes com contraindicação ao uso desse método. As mamas densas possuem baixa sensibilidade para o rastreamento por mamografia

Rotura traumática simultánea y bilateral del tendón del cuádriceps en un paciente fisicoculturista: informe de caso y revisión de la literatura / Simultaneous bilateral traumatic quadriceps tendon rupture in a bodybuilding patient: case report and literature review

La rotura traumática, simultánea y bilateral del tendón cuadricipital es una lesión infrecuente, generalmente asociada a otras enfermedades sistémicas tales como insuficiencia renal o trastornos endocrinos. Presentamos el caso de un varón sano y atleta de 38 años que sufrió esta lesión mientras realizaba una sentadilla en el gimnasio. (AU)

The traumatic bilateral and simultaneous quadriceps tendon rupture is a rare injury, usually associated with other systemic diseases such as renal insufficiency or endocrine disorders. We present the case of a 38-year-old healthy male athlete who sustained this injury while performing a squat at the gym. (AU)

Como eu faço avaliação ecocardiográfica de pericardite constritiva / My approach to echocardiographic assessment for constrictive pericarditis

A pericardite constritiva (PC) é uma condição na qual a cicatrização e perda de elasticidade do pericárdio resultam em enchimento ventricular prejudicado, disfunção diastólica e insuficiência cardíaca direita. O diagnóstico dessa patologia é desafiador, sendo frequente a necessidade de técnicas de imagem multimodal, dentre as quais a ecocardiografia representa a modalidade de imagem inicial para a avaliação diagnóstica, além de permitir a diferenciação da PC da cardiomiopatia restritiva (CMR) e outras condições que mimetizam constrição. (AU)

Constrictive pericarditis (CP) is a condition in which scarring and loss of elasticity of the pericardium result in impaired ventricular filling, diastolic dysfunction, and right heart failure. The diagnosis of this pathology is challenging, with frequent need for multimodal imaging techniques, among which echocardiography represents the initial imaging modality for the diagnostic evaluation, in addition to allowing the differentiation of CP from restrictive cardiomyopathy (RCM) and other conditions that mimic constriction. (AU)

Como eu faço o strain longitudinal do ventrículo direito com softwares automatizados 2D e 3D / My approach to right ventricular longitudinal strain with automated 2D and 3D software

A análise da deformação miocárdica ventricular direita tem surgido como uma ferramenta diagnóstica importante na detecção de disfunção sistólica ventricular direita inicial não detectada pelas técnicas ecocardiográficas convencionais. Além disso, é capaz de trazer informações diagnósticas e prognósticas adicionais aos parâmetros tradicionais de avaliação da função sistólica ventricular direita em diversas patologias. O método ecocardiográfico de escolha para sua avaliação é o strain longitudinal derivado do speckletracking. Ele tem se mostrado mais sensível para pequenas mudanças na função sistólica quando comparado à excursão sistólica do plano do anel tricúspide, estudo da onda s´ ao Doppler tecidual do anel tricúspide e variação da área fracional do ventrículo direito. O avanço da inteligência artificial e a presença de softwares com análise automatizada entram neste cenário visando tornar a aplicabilidade do método mais simples, rápida e com menor variabilidade inter e intraobservador. O objetivo deste artigo de revisão é demonstrar o passo a passo da técnica, desde a otimização e aquisição de imagens até a interpretação dos resultados, com figuras ilustrativas de casos selecionados.(AU)

Right ventricular strain analysis has emerged as an important diagnostic tool in the detection of early right ventricular systolic dysfunction not detected by conventional echocardiography techniques. Furthermore, it is capable of providing additional diagnostic and prognostic information to the traditional parameters for evaluating right ventricular systolic function in various pathologies. The echocardiography method of choice for its assessment is longitudinal strain derived from speckletracking. This method has been shown to be more sensitive for small changes in systolic function when compared to tricuspid annular plane systolic excursion, tissue Doppler imaging of the tricuspid annular s' wave, and right ventricular fractional area change. Advances in artificial intelligence and software with automated analysis have been introduced to this scenario with the aim of making the method simpler and quicker to apply, with lower inter- and intra-observer variability. The objective of this review article is to demonstrate the technique step by step, from image optimization and acquisition to interpretation of results, with illustrative figures of selected cases.(AU)

Como eu faço no Coração de Atleta: avaliação dos diferentes tipos de adaptação ao exercício / My approach to "Athlete'S Heart": evaluation of the different types of adaptation to exercise

A prática regular de esportes pode induzir adaptações no coração, sendo essa condição comumente chamada de "coração de atleta". As alterações observadas incluem dilatação das câmaras cardíacas, aumento da espessura miocárdica, melhora do enchimento ventricular, aumento da trabeculação do ventrículo esquerdo (VE), dilatação da veia cava inferior, entre outras. Essas alterações também podem ser observadas em algumas doenças cardíacas, como cardiomiopatia (CMP) dilatada, hipertrófica e outras. Dessa forma, os exames de imagem cardíaca são fundamentais na identificação dessas alterações e na diferenciação entre o "coração de atleta" e uma possível cardiopatia.(AU)

Exercise-induced adaptation may occur in amateur and professional athletes. This condition is commonly named "athlete's heart". The alterations observed include dilation of the heart chambers, increased myocardial thickness, improved ventricular filling, increased left ventricular trabeculation, dilation of the inferior vena cava, among others. These changes can also be observed in some heart diseases, such as dilated, hypertrophic and other cardiomyopathies (CMP). Thus, cardiac imaging tests are fundamental in identifying these alterations and in differentiating between "athlete's heart" and possible heart disease. (AU)

Coração em Criss-Cross: um relato de caso / Criss-Cross Heart: a case report

Coração em criss-cross (ou coração entrecruzado) foi descrito pela primeira vez em 1974. Trata-se de uma malformação cardíaca congênita, rara, ocorrendo 8 casos a cada 1.000.000 de crianças, e representando somente 0,1% das malformações congênitas. Os métodos diagnósticos de escolha são o ecocardiograma transtorácico, a ressonância magnética cardíaca (RMC), a angiotomografia (TC) e, eventualmente, o cateterismo cardíaco. Neste relato, descreve-se o caso de um recém-nascido com coração em criss-cross somado à dupla via de saída do ventrículo direito (VD), com vasos mal posicionados, além de comunicação interatrial (CIA), comunicação interventricular (CIV), displasia de valva tricúspide e veia cava superior esquerda persistente. Não se sabe a etiologia exata dessa malformação, mas parece ocorrer pela rotação dos ventrículos em seu eixo longitudinal, não acompanhada das rotações atrial e das valvas atrioventriculares (AV). Esse movimento produz uma alteração das vias de entrada dos ventrículos, determinando que o VD se posicione em plano superior e o esquerdo em plano inferior. Apesar de ainda não se saber a exata causa dessa anomalia, acredita-se que uma alteração genética possa estar levando a esses casos: a mutação do gene Cx43. O diagnóstico do caso em questão foi dado pela ecocardiografia transtorácica e da TC de aorta e artérias pulmonares, que mostraram, além do criss-cross, outras alterações, como dupla via de saída do VD, CIA e CIV amplas.(AU)

Criss-cross heart was first described in 1974. It is a rare congenital heart malformation that occurs in 8 cases per 1,000,000 children, and represents only 0.1% of congenital malformations. The diagnostic methods of choice are transthoracic echocardiography, cardiac magnetic resonance (CMR), computed tomography angiography (CT) and, sometimes, cardiac catheterization. This report describes the case of a newborn with a criss-cross heart in addition to double-outlet right ventricle (RV), with poorly positioned vessels, in addition to atrial septal defect (ASD), interventricular septal defect, tricuspid valve dysplasia and persistent left superior vena cava. The exact etiology of this malformation is not known, but it seems to occur due to rotation of the ventricles in their longitudinal axis, not accompanied by rotation of the atrial and atrioventricular (AV) valves. This movement produces abnormal ventricular inlets, determining that the RV be positioned on a superior plane and the left ventricle on an inferior plane. Although the exact cause of this anomaly is still unknown, it is believed that a genetic abnormality may be leading to these cases: mutation of the Cx43 gene. Diagnosis of the case concerned was given by transthoracic echocardiography and computed CT of the aorta and pulmonary arteries, which showed, in addition to the criss-cross heart, other abnormalities, such as double-outlet RV, large ASD and ventricular septal defect (VSD).(AU)

Research progress on head imaging features of carbon monoxide poisoning and delayed encephalopathy / 中华劳动卫生职业病杂志

Acute carbon monoxide poisoning and its delayed encephalopathy have obvious damage to the central nervous system. There are different neuroimaging changes in different stages of the disease, and they are relatively specific. This article reviews the clinical research progress on the imaging changes of carbon monoxide poisoning and delayed encephalopathy, including computed tomography (CT) , conventional magnetic resonance imaging (MRI) , diffusion weighted imaging (DWI) , diffusion tensor imaging (DTI) , diffusion kurtosis imaging (DKI) , magnetic resonance spectroscopy (MRS) and other imaging changes reflecting the function and metabolic state of the brain tissue.

Two new prenylated 2-arylbenzofurans from roots of Artocarpus heterophyllus and their anti-respiratory burst activities / 中国中药杂志

Two prenylated 2-arylbenzofurans were isolated from roots of Artocarpus heterophyllus, with a combination of various chromatographic approaches, including ODS, MCI, Sephadex LH-20, and semipreparative high performance liquid chromatography(HPLC). They were identified as 5-[6-hydroxy-4-methoxy-5,7-bis(3-methylbut-2-enyl)benzofuran-2-yl]-1,3-benzenediol(1) and 5-[2H,9H-2,2,9,9-tetramethyl-furo[2,3-f]pyrano[2,3-h][1]benzopyran-6-yl]-1,3-benzenediol(2) with spectroscopic methods, such as HR-ESI-MS, IR, 1D NMR, and 2D NMR, and named artoheterins B(1) and C(2), respectively. The anti-respiratory burst activities of the two compounds were evaluated with rat polymorphonuclear neutrophils(PMNs) stimulated by phorbol 12-myristate 13-acetate(PMA). The results showed that 1 and 2 exhibited significant inhibitory effect on respiratory burst of PMNs with IC_(50) values of 0.27 and 1.53 μmol·L~(-1), respectively.