RESUMO
BACKGROUND: Intrauterine infection with the Zika virus (ZIKV) has been connected to severe brain malformations, microcephaly, and abnormal electrophysiological activity. METHODS: We describe the interictal electroencephalographic (EEG) recordings of 47 children born with ZIKV-derived microcephaly. EEGs were recorded in the first year of life and correlated with brain morphology. In 31 subjects, we tested the association between computed tomography (CT) findings and interictal epileptiform discharges (IED). In eighteen, CTs were used for correlating volumetric measurements of the brainstem, cerebellum, and prosencephalon with the rate of IED. FINDINGS: Twenty-nine out of 47 (62%) subjects were diagnosed as having epilepsy. Those subjects presented epileptiform discharges, including unilateral interictal spikes (26/29, 90%), bilateral synchronous and asynchronous interictal spikes (21/29, 72%), and hypsarrhythmia (12/29, 41%). Interestingly, 58% of subjects with clinical epilepsy were born with rhombencephalon malformations, while none of the subjects without epilepsy showed macroscopic abnormalities in this region. The presence of rhombencephalon malformation was associated with epilepsy (odds ratio of 34; 95% CI: 2 - 654). Also, the presence of IED was associated with smaller brain volumes. Age-corrected total brain volume was inversely correlated with the rate of IED during sleep. Finally, 11 of 44 (25%) subjects presented sleep spindles. We observed an odds ratio of 0·25 (95% CI: 0·06 - 1·04) for having sleep spindles given the IED presence. INTERPRETATION: The findings suggest that certain CT imaging features are associated with an increased likelihood of developing epilepsy, including higher rates of IED and impaired development of sleep spindles, in the first year of life of CZVS subjects. FUNDING: This work was supported by the Brazilian Federal Government through a postdoctoral fellowship for EBS (Talented Youth, Science without Borders), an undergraduate scholarship for AJR (Institutional Program of Science Initiation Scholarships, Federal University of Rio Grande do Norte, Brazil), by International Centre for Genetic Engineering and Biotechnology (CRP/BRA18-05_EC) and by CAPES (Grant number 440893/2016-0), and CNPq (Grant number 88881.130729/2016-01).
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Pediatric multiple sclerosis (MS) deserves special attention because of its impact on cognitive function and development. Although knowledge regarding pediatric MS has rapidly increased, understanding the peculiarities of this population remains crucial for disease management. There is limited expertise about the efficacy and safety of current disease-modifying agents. Although pathophysiology is not entirely understood, some risk factors and immunological features have been described and are discussed herein. While the revised International Pediatric MS Study Group diagnostic criteria have improved the accuracy of diagnosis, the recently revised McDonald criteria also offer some new insights into the pediatric population. It is fundamental that radiologists have strong knowledge about the vast spectrum of demyelinating disorders that can occur in childhood to ensure appropriate diagnosis and provide early treatment.
Assuntos
Esclerose Múltipla/diagnóstico por imagem , Idade de Início , Criança , Diagnóstico Diferencial , HumanosRESUMO
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458-462.
Assuntos
Encéfalo/patologia , Atrofia Muscular Espinal/patologia , Pré-Escolar , Progressão da Doença , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Atrofia Muscular Espinal/genética , Neuroimagem , Fenótipo , Proteína 1 de Sobrevivência do Neurônio Motor/genéticaRESUMO
Vicilins are 7S globulins which constitute the major seed storage proteins in leguminous species. Variant vicilins showing differential binding affinities for chitin have been implicated in the resistance and susceptibility of cowpea to the bruchid Callosobruchus maculatus. These proteins are members of the cupin superfamily, which includes a wide variety of enzymes and non-catalytic seed storage proteins. The cupin fold does not share similarity with any known chitin-biding domain. Therefore, it is poorly understood how these storage proteins bind to chitin. In this work, partial cDNA sequences encoding ß-vignin, the major component of cowpea vicilins, were obtained from developing seeds. Three-dimensional molecular models of ß-vignin showed the characteristic cupin fold and computational simulations revealed that each vicilin trimer contained 3 chitin-binding sites. Interaction models showed that chito-oligosaccharides bound to ß-vignin were stabilized mainly by hydrogen bonds, a common structural feature of typical carbohydrate-binding proteins. Furthermore, many of the residues involved in the chitin-binding sites of ß-vignin are conserved in other 7S globulins. These results support previous experimental evidences on the ability of vicilin-like proteins from cowpea and other leguminous species to bind in vitro to chitin as well as in vivo to chitinous structures of larval C. maculatus midgut.
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Proteínas de Plantas/genética , Proteínas de Armazenamento de Sementes/genética , Vigna/genética , Animais , Sítios de Ligação , Quitina/química , Quitina/genética , Clonagem Molecular , Besouros/patogenicidade , DNA Complementar/genética , Resistência à Doença/genética , Doenças das Plantas/genética , Doenças das Plantas/parasitologia , Proteínas de Plantas/química , Ligação Proteica , Proteínas de Armazenamento de Sementes/química , Sementes/química , Sementes/genética , Vigna/crescimento & desenvolvimentoRESUMO
ABSTRACT Collateral circulation is a physiologic pathway that protects the brain against ischemic injury and can potentially bypass the effect of a blocked artery, thereby influencing ischemic lesion size and growth. Several recent stroke trials have provided information about the role of collaterals in stroke pathophysiology, and collateral perfusion has been recognized to influence arterial recanalization, reperfusion, hemorrhagic transformation, and neurological outcomes after stroke. Our current aim is to summarize the anatomy and physiology of the collateral circulation and to present and discuss a comprehensible review of the related knowledge, particularly the effects of collateral circulation on the time course of ischemic injury and stroke severity, as well as imaging findings and therapeutic implications.
RESUMO A circulação colateral é um circuito fisiológico de proteção contra alterações isquêmicas que, potencialmente, evita os efeitos de uma oclusão arterial e com isso pode influenciar nas dimensões e no crescimento de uma lesão isquêmica. Vários estudos recentes forneceram informações a respeito do papel das colaterais na fisiopatologia do acidente vascular encefálico isquêmico e demonstraram a capacidade da circulação colateral de influenciar as taxas de reperfusão, recanalização, transformação hemorrágica e com isso desfecho clínico dos pacientes. O objetivo desta revisão é sintetizar a anatomia e a fisiologia da circulação colateral encefálica, apresentando e discutindo, o que se conhece atualmente acerca do seu efeito na cronologia e gravidade da lesão isquêmica, além dos achados de imagens e implicações terapêuticas.
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Humanos , Isquemia Encefálica/fisiopatologia , Circulação Cerebrovascular/fisiologia , Circulação Colateral/fisiologia , Acidente Vascular Cerebral/fisiopatologia , Velocidade do Fluxo Sanguíneo , Angiografia Cerebral , Isquemia Encefálica/diagnóstico por imagem , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
Collateral circulation is a physiologic pathway that protects the brain against ischemic injury and can potentially bypass the effect of a blocked artery, thereby influencing ischemic lesion size and growth. Several recent stroke trials have provided information about the role of collaterals in stroke pathophysiology, and collateral perfusion has been recognized to influence arterial recanalization, reperfusion, hemorrhagic transformation, and neurological outcomes after stroke. Our current aim is to summarize the anatomy and physiology of the collateral circulation and to present and discuss a comprehensible review of the related knowledge, particularly the effects of collateral circulation on the time course of ischemic injury and stroke severity, as well as imaging findings and therapeutic implications.
Assuntos
Isquemia Encefálica/fisiopatologia , Circulação Cerebrovascular/fisiologia , Circulação Colateral/fisiologia , Acidente Vascular Cerebral/fisiopatologia , Velocidade do Fluxo Sanguíneo , Isquemia Encefálica/diagnóstico por imagem , Angiografia Cerebral , Humanos , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
The "ears of the lynx" sign was previously reported as a neuroimaging finding observed in patients with autosomal recessive hereditary spastic paraplegia in association with a thin corpus callosum (ARHSP-TCC). We report a patient with a chronic form of Marchiafava-Bignami disease (MBD) that presented with this imaging feature. Diffusion tensor imaging (DTI) and fiber-tracking data support that this finding is a consequence of the structural derangement, which enlarges a preexisting border zone of the bundles of fibers from the corpus callosum (CC) genu to the forceps minor and anterior corona radiata. Therefore, we assume that despite their pathological differences, damage to the anterior portion of the CC is responsible for the imaging similarities between MBD and ARHSP-TCC.
Assuntos
Ventrículos Cerebrais/patologia , Corpo Caloso/patologia , Imagem de Tensor de Difusão/métodos , Lobo Frontal/patologia , Doença de Marchiafava-Bignami/patologia , Fibras Nervosas Mielinizadas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Vias Neurais/patologiaRESUMO
In several plant tissues, programmed cell death (PCD) is mediated by the combined action of cysteine peptidases, namely KDEL-tailed cysteine peptidases (KDEL-CysEP) and vacuolar processing enzymes (VPE). Here, we performed a search of the draft genome of Jatropha curcas L. (Euphorbiaceae) and identified 2 genes for KDEL-CysEP (Jc-CysEP1 and Jc-CysEP2) and 3 genes for VPE (Jc-ßVPE, Jc-γVPE and Jc-δVPE) and determined the expression patterns of these genes by RT-qPCR in integument and cellular endosperm of seeds collected at seven different developmental stages. We were able to demonstrate that the expression of Jc-CysEP1, Jc-CysEP2, Jc-ßVPE and Jc-γVPE proceeded rapidly from Stage IV, with Jc-CysEP2 displaying the highest relative expression; expression of Jc-δVPE could not be detected in any of the tissues/developmental stages analyzed. Additionally, we showed that the expression pattern of these peptidases correlates with anatomical changes in integument and cellular endosperm, thus suggesting a role for both classes of peptidases in PCD and in protein processing, both of which occur simultaneously in each of these tissues.
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Cisteína Endopeptidases/genética , Regulação da Expressão Gênica de Plantas , Genoma de Planta/genética , Jatropha/genética , Apoptose , Cisteína/metabolismo , Cisteína Endopeptidases/metabolismo , Primers do DNA/genética , Endosperma/citologia , Endosperma/genética , Endosperma/crescimento & desenvolvimento , Endosperma/fisiologia , Genômica , Jatropha/citologia , Jatropha/crescimento & desenvolvimento , Jatropha/fisiologia , Oligopeptídeos , Filogenia , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Sinais Direcionadores de Proteínas , Sementes/citologia , Sementes/genética , Sementes/crescimento & desenvolvimento , Sementes/fisiologiaAssuntos
Cromossomos Humanos Par 1/genética , Proteínas da Matriz Extracelular/genética , Proteinose Lipoide de Urbach e Wiethe , Adulto , Encéfalo/patologia , Feminino , Humanos , Proteinose Lipoide de Urbach e Wiethe/diagnóstico , Proteinose Lipoide de Urbach e Wiethe/genética , Proteinose Lipoide de Urbach e Wiethe/patologia , Neurofibromatoses/diagnóstico , Neurofibromatoses/genética , Neurofibromatoses/patologia , Neuroimagem/métodos , Adulto JovemAssuntos
Encefalopatias Metabólicas/etiologia , Encefalopatias Metabólicas/patologia , Corpo Estriado/patologia , Diálise Renal/efeitos adversos , Acidose , Gânglios da Base/patologia , Nitrogênio da Ureia Sanguínea , Edema Encefálico/etiologia , Edema Encefálico/patologia , Criança , Epilepsia Tônico-Clônica/etiologia , Feminino , Humanos , Nefrite Lúpica/complicações , Nefrite Lúpica/terapia , Imageamento por Ressonância Magnética , Ureia/metabolismoAssuntos
Hamartoma/patologia , Doenças Hipotalâmicas/patologia , Síndrome de Pallister-Hall/patologia , Determinação da Idade pelo Esqueleto , Pré-Escolar , Diagnóstico Diferencial , Pé/diagnóstico por imagem , Hamartoma/diagnóstico , Hamartoma/diagnóstico por imagem , Mãos/inervação , Humanos , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/diagnóstico por imagem , Extremidade Inferior/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Síndrome de Pallister-Hall/diagnóstico , Síndrome de Pallister-Hall/diagnóstico por imagem , PrognósticoRESUMO
BACKGROUND: Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain's white matter. MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA). OBJECTIVE: This study employed DTI to evaluate the relationship between FA patterns and the findings of T2 sequences, with the aim of improving our understanding of anatomical changes and microstructural brain abnormalities in individuals with NF1. MATERIALS AND METHODS: Forty-four individuals with NF1 and 20 control subjects were evaluated. The comparative analysis of FA between NF1 and control groups was based on four predetermined anatomical regions of the brain hemispheres (basal ganglia, cerebellum, pons, thalamus) and related the presence or absence of T2-weighted hyperintensities in the brain, which are called unidentified bright objects (UBOs). RESULTS: The FA values between the groups demonstrated statistically significant differences (P ≤ 0.05) for the cerebellum and thalamus in patients with NF1, independent of the occurrence of UBOs. CONCLUSIONS: Diffusion tensor MR imaging confirms the influence of UBOs in the decrease of FA values in this series of patients with NF1. Additionally, this technique allows the characterization of microstructural abnormalities even in some brain regions that appear normal in conventional MR sequences.
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Encéfalo/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Fibras Nervosas Mielinizadas/patologia , Neurofibromatose 1/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto JovemRESUMO
Bone involvement is a common finding in many types of lymphoma (Clin Oncol 9(3): 195-196, 1997). However, cranial vault affliction has been regarded as an exceedingly rare presentation, particularly in the case of primary lymphoma (J Neurosurg 108(5): 1018-1020, 2008). Our objective is to describe a series of five immunocompetent patients with histologically confirmed cranial vault lymphoma (CVL), and to conduct a systematic review of the current literature. Our review points out identical imaging patterns in most of the lesions for all reported CVL cases, despite their different histological subtypes. This typical pattern can be seen on computed tomography (CT) scans and magnetic resonance imaging (MRI) as an expansive tumor that affects all three compartments of the cranial vault, including the scalp, skull bone, and pachymeninges, even in the absence of osteolysis. We argue that the absence of osteolysis might enhance diagnostic capability. In the appropriate clinical setting, these features represent important disease characteristics that may help with an earlier diagnosis. Large B-cell lymphoma was the most common subtype of primary CVL.
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Dura-Máter/patologia , Linfoma/diagnóstico , Crânio/patologia , Adolescente , Adulto , Idoso , Feminino , Humanos , Imunocompetência , Linfoma/patologia , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , PubMed/estatística & dados numéricos , Couro Cabeludo/patologia , Couro Cabeludo/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
A case report of a 31 year-old woman from Paraíba State (North-Eastern Brazil) that presented severe involvement of ocular globes, ears and meninges. Diagnosis was established after enucleation of her left eye, when adult worms were seen in the midst of a granulomatous inflammatory process. Her response to the initial treatment with levamisole and cambendazole was good, but there was a relapse after the fifth month of treatment even with maintenance doses of both medications. She later received ivermectin and albendazol and responded well.
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Infecções por Ascaridida/parasitologia , Ascaridoidea/isolamento & purificação , Infecções Oculares Parasitárias/parasitologia , Perda Auditiva Unilateral/parasitologia , Meninges/parasitologia , Adulto , Animais , Antiparasitários/uso terapêutico , Infecções por Ascaridida/diagnóstico , Infecções por Ascaridida/terapia , Ascaridoidea/classificação , Enucleação Ocular , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/terapia , Feminino , Humanos , Índice de Gravidade de DoençaRESUMO
A case report of a 31 year-old woman from Paraíba State (North-Eastern Brazil) that presented severe involvement of ocular globes, ears and meninges. Diagnosis was established after enucleation of her left eye, when adult worms were seen in the midst of a granulomatous inflammatory process. Her response to the initial treatment with levamisole and cambendazole was good, but there was a relapse after the fifth month of treatment even with maintenance doses of both medications. She later received ivermectin and albendazol and responded well.
Paciente do sexo feminino, com 31 anos, procedente da Paraíba, apresentava envolvimento severo de ambos os globos oculares, com perda da visão à esquerda, comprometimento da audição e das meninges. Após enucleação do olho esquerdo fragmento de helminto identificado como Lagochilascaris minor foi observado em processo inflamatório granulomatoso. Inicialmente a paciente foi tratada com levamisol e cambendazol, com bom resultado. Verificou-se, todavia, piora do quadro após cinco meses, com eliminação de larvas do ascarídeo em lesão presente na órbita esquerda, embora a medicação fosse mantida com administração periódica. Houve boa resposta terapêutica, com regressão do quadro, após substituição dos anti-helmínticos anteriores pela associação ivermectina e albendazol.
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Adulto , Animais , Feminino , Humanos , Infecções por Ascaridida/parasitologia , Ascaridoidea/isolamento & purificação , Infecções Oculares Parasitárias/parasitologia , Perda Auditiva Unilateral/parasitologia , Meninges/parasitologia , Antiparasitários/uso terapêutico , Infecções por Ascaridida/diagnóstico , Infecções por Ascaridida/terapia , Ascaridoidea/classificação , Enucleação Ocular , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/terapia , Índice de Gravidade de DoençaRESUMO
BACKGROUND: The objective of this study is to differentiate PSP from Parkinson's disease through magnetic resonance imaging. METHODS: We included 14 consecutive patients with PD (9) or PSP (5). These measures included the third ventricle, midbrain diameter, quadrigeminal plate, brainstem volumetry, and interpeduncular angle. RESULTS: Patients with PSP presented enlargement of third ventricle (100% vs. 33%), lower midbrain diameter (mean 13.2 +/- 1.7 mm vs. 16.5 +/- 1.7 mm) and thinning of the quadrigeminal plate (mean 2.7 +/- 0.3 mm vs. 3.6 +/- 0.3 mm) in comparison with PD. CONCLUSIONS: Characteristic findings on MRI may help to differentiate PD from PSP.
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Encéfalo/patologia , Imageamento por Ressonância Magnética , Doença de Parkinson/diagnóstico , Paralisia Supranuclear Progressiva/diagnóstico , Idoso , Brasil/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
BACKGROUND AND PURPOSE: Relative cerebral blood volume (rCBV) measurements derived from perfusion-weighted imaging (PWI) may be useful to evaluate angiogenesis and preoperatively estimate the grade of a glioma. We hypothesized that rCBV is correlated with vascular endothelial growth factor (VEGF) expression as marker of the angiogenic stimulus in presumed supratentorial low-grade gliomas (LGGs). METHODS: From February 2001 to February 2004, we examined 20 adults (16 men, four women; mean age 36 years; range, 23-60 years) with suspected (nonenhancing) supratentorial LGG on conventional MR imaging. Preoperative MR imaging used a dynamic first-pass gadolinium-enhanced, spin-echo echo-planar PWI. In heterogeneous tumors, we performed stereotactic biopsy in the high-perfusion areas before surgical resection. Semiquantitative grading of VEGF immunoreactivity was applied. RESULTS: Nine patients had diffuse astrocytomas (World Health Organization grade II), and 11 had other LGG and anaplastic gliomas. In patients with heterogeneous tumors on PWI, the high-rCBV focus had areas of oligodendroglioma or anaplastic astrocytoma on stereotactic biopsy, whereas the surgical specimens were predominantly astrocytomas. Anaplastic gliomas had high rCBV ratios and positive VEGF immunoreactivity. Diffuse astrocytomas had negative VEGF expression and mean rCBV values significantly lower than those of the other two groups. Three diffuse astrocytomas had positive VEGF immunoreactivity and high rCBV values. CONCLUSION: Our results confirmed the correlation among rCBV measurements, VEGF expression, and histopathologic grade in nonenhancing gliomas. PWI may add useful data to the preoperative assessment of nonenhancing gliomas. Its contribution in predicting tumor behavior and patient prognosis remains to be determined.
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Volume Sanguíneo , Glioma/metabolismo , Glioma/fisiopatologia , Imageamento por Ressonância Magnética , Neoplasias Supratentoriais/metabolismo , Neoplasias Supratentoriais/fisiopatologia , Fator A de Crescimento do Endotélio Vascular/biossíntese , Adulto , Feminino , Glioma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Supratentoriais/patologiaRESUMO
Transient global amnesia is a benign syndrome of sudden-onset alteration of behavior with temporary dysfunction of anterograde and recent retrograde memory. Its neural substrates remain uncertain. Possible causes include ischemia, migraine, and epilepsy. The authors report a case of a 62-year-old man with a transient attack of memory disturbance, suggestive of transient global amnesia, in which magnetic resonance imaging performed 48 hours after onset showed left mesial temporal lobe signal changes on diffusion-weighted imaging and fluid-attenuated inversion recovery images. The findings and a literature review lend further support to the ischemic pathogenesis of transient global amnesia as a possible etiology, and underscore the role of diffusion-weighted imaging in the diagnosis of this condition.