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PURPOSE: In this study we gathered and analyzed the available evidence regarding 17 different imaging modalities and performed network meta-analysis to find the most effective modality for the differentiation between brain tumor recurrence and post-treatment radiation effects. METHODS: We conducted a comprehensive systematic search on PubMed and Embase. The quality of eligible studies was assessed using the Assessment of Multiple Systematic Reviews-2 (AMSTAR-2) instrument. For each meta-analysis, we recalculated the effect size, sensitivity, specificity, positive and negative likelihood ratios, and diagnostic odds ratio from the individual study data provided in the original meta-analysis using a random-effects model. Imaging technique comparisons were then assessed using NMA. Ranking was assessed using the multidimensional scaling approach and by visually assessing surface under the cumulative ranking curves. RESULTS: We identified 32 eligible studies. High confidence in the results was found in only one of them, with a substantial heterogeneity and small study effect in 21% and 9% of included meta-analysis respectively. Comparisons between MRS Cho/NAA, Cho/Cr, DWI, and DSC were most studied. Our analysis showed MRS (Cho/NAA) and 18F-DOPA PET displayed the highest sensitivity and negative likelihood ratios. 18-FET PET was ranked highest among the 17 studied techniques with statistical significance. APT MRI was the only non-nuclear imaging modality to rank higher than DSC, with statistical insignificance, however. CONCLUSION: The evidence regarding which imaging modality is best for the differentiation between radiation necrosis and post-treatment radiation effects is still inconclusive. Using NMA, our analysis ranked FET PET to be the best for such a task based on the available evidence. APT MRI showed promising results as a non-nuclear alternative.
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Neoplasias Encefálicas , Lesões por Radiação , Humanos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/radioterapia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/patologia , Metanálise em Rede , Lesões por Radiação/diagnóstico por imagem , Lesões por Radiação/patologia , Metanálise como AssuntoRESUMO
BACKGROUND: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's congenital myotonia. CASE PRESENTATION: We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan's anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described. CONCLUSIONS: Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
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Doenças Musculares , Miotonia Congênita , Miotonia , Humanos , Aciltransferases/genética , Canais de Cloreto/genética , Lipase/genética , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/patologia , Mutação/genética , Miotonia/genética , Miotonia Congênita/diagnóstico , Miotonia Congênita/genéticaRESUMO
The objective is to evaluate clinical characteristics and cerebral alterations in Parkinson's disease (PD) patients with diurnal visual hallucinations (VHs). Assessment was performed using magnetic resonance image (MRI) and voxel-based morphometry (VBM). Thirty-nine patients with PD (53.8%) and ten controls were studied. Voxel based morphology analysis was performed. Eleven patients presented diurnal VHs and among these, six had cognitive dysfunction. Patients with VHs performed worse in the mentation-related UPDRS I (p=0.005) and motor-related UPDRS III (p=0.02). Patients with VHs showed significant clusters of reduced grey matter volume compared to controls in the left opercula frontal gyrus and left superior frontal gyrus. PD without hallucinations demonstrated reduced grey matter volume in the left superior frontal gyrus compared to controls. Comparisons between patients with VHs regarding the presence of cognitive dysfunction showed that cases with cognitive dysfunction as compared to those without cognitive dysfunction showed significant clusters of reduced grey matter volume in the left opercular frontal gyrus. Cases without cognitive dysfunction had reduced grey matter substance in the left insula and left trigonal frontal gyrus. Judging from our findings, an abnormal frontal cortex, particularly left sided insula, frontal opercular, trigonal frontal gyrus and orbital frontal would make PD patients vulnerable to hallucinations. Compromise of the left operculum distinguished cases with VHs and cognitive dysfunction. Our findings reinforce the theoretical concept of a top-down visual processing in the genesis of VHs in PD.
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Córtex Cerebral/patologia , Alucinações/patologia , Doença de Parkinson/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Alucinações/etiologia , Humanos , Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicaçõesRESUMO
Background: Primary central nervous system lymphoma (PCNSL) is an uncommon lesion and represent 4% of all central nervous system (CNS) cancers. There have been few reports of localized isolated lymphoma developing in the fourth ventricle, with only 8 previous cases described. We present a case of an immunocompetent patient with isolated fourth ventricle lymphoma who did not have diffusion-weighted imaging (DWI) restriction. Case Description: A 45-year-old man presented a history of headache, vomiting and weigh loss. Upon clinical examination, he presented bilateral papilledema, multidirectional nystagmus, and gait imbalance. Magnetic resonance imaging showed a solid tumor in fourth ventricle with 1.8 × 1.6 × 1.1 cm. The patient was submitted to a suboccipital telovelar approach. The pathological study showed a neoplasm composed of loose round cells. Immunohistochemistry showed positivity for CD-45 and CD-23. The diagnosis of primary CNS lymphoma of the fourth ventricle was certified. Patient was sent to complementary treatment with hematologist and radiotherapy and chemotherapy were started. Conclusion: PCNSL is a rare and aggressive pathology with high rates of mortality and recurrence. It requires a multidisciplinary team and multiple therapies to control the disease and deliver better quality of life and prognosis to the patient.
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Bone tumors and tumor-like lesions (pseudotumors) are not uncommonly encountered as asymptomatic findings on imaging, or as symptomatic lesions clinically. Radiographic imaging is the first diagnostic tool for their management strategy, since the symptoms are commonly non-specific, such as pain, swelling, and redness. Image findings must be analyzed with attention to the specific features such as lesion location, margination, zone of transition, mineralization, size and multifocality, soft tissue component and/or loco-regional extent. Cross-sectional imaging including CT and MRI serve as complementary methods, providing additional information with respect to the lesion characterization, mineralization, extent and involvement of the adjoining soft tissues. Clinical and/or key imaging features aid in limiting the differential diagnostic possibilities and serve as a guide in determining the benignity or malignancy of the tumor as well as to exclude pseudotumors. This article reviews the key imaging features of foot and ankle lesions. Benign bone lesions include simple and aneurysmal bone cysts, lipoma, hemangioma, chondroblastoma, enchondroma, osteoid osteoma, osteoblastoma, and giant cell tumor. Locally aggressive intermediate category lesion includes hemangioendothelioma. Malignant lesions include osteosarcoma, Ewing's sarcoma, chondrosarcoma. Pseudotumors such as fibrous dysplasia, hemophilic pseudotumor, gout and Madura foot are also discussed with illustrative case examples.
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Neoplasias Ósseas , Condroblastoma , Osteoblastoma , Osteoma Osteoide , Tornozelo , Neoplasias Ósseas/diagnóstico por imagem , Condroblastoma/diagnóstico , Diagnóstico Diferencial , Humanos , Osteoma Osteoide/diagnósticoRESUMO
Magnetic resonance neurography is a technique for identifying anatomy and pathologic lesions of nerves, and has emerged as a helpful technique for localizing lesions and elucidating the underlying etiology. Ganglioneuromas are highly differentiated benign tumors. This lesion is rare and exhibits undetermined symptoms, the features of using the magnetic resonance neurography are a great ally to determine its diagnosis. The authors illustrate a case of retroperitoneal ganglioneuroma emphasizing its image characteristics using magnetic resonance neurography with the diagnosis confirmed by histopathological examination.
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A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy ((1)H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and (1)H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.
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Tronco Encefálico/patologia , Ácido Láctico/análise , Leucoencefalopatia Multifocal Progressiva/patologia , Medula Espinal/patologia , Adolescente , Tronco Encefálico/química , Humanos , Leucoencefalopatia Multifocal Progressiva/metabolismo , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Medula Espinal/químicaRESUMO
The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation-Fortaleza-Ceará-Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.
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Lipofuscinoses Ceroides Neuronais/patologia , Adolescente , Adulto , Biópsia , Criança , Eletroencefalografia , Humanos , Espectroscopia de Ressonância Magnética/métodos , Masculino , Lipofuscinoses Ceroides Neuronais/diagnóstico por imagem , Prótons , Tomografia Computadorizada por Raios XRESUMO
AIM: Parkinson's disease (PD) patients frequently present visual hallucinations (VHs) that have been associated with depression, old age, and cognitive impairment. Sleep abnormalities are also related to these factors. The aim of this study is to evaluate risk factors, particularly sleep alterations, associated with VHs in PD. METHODS: This is a cross-sectional evaluation of consecutive patients from a Movement Disorder's clinics. Patients were clinically evaluated, and behavioral questionnaires were applied in a face-to-face interview. RESULTS: Among 100 PD patients (67% male, mean age â=â 65.0 ± 10.4), VHs were present in 28% of cases; individuals with VHs had worse sleep quality (Pittsburgh Sleep Questionnaire Index) and more severe sleep disturbances [Parkinson's Disease Sleep Scale (PDSS)]. Logistic regression analysis showed that vivid dreams and Unified Parkinson's Disease Rating Scale (UPDRS) I scores (i.e., mentation, behavior, and mood symptoms) are independently associated with VHs. Our data show that the presence of vivid dreams is associated with VHs in PD and reaffirm that VHs are linked to cognitive impairment. CONCLUSIONS: Investigating vivid dreams may help the identification of VHs in PD. Identifying vivid dreams can be hard considering that patients may fail to report symptoms for the fear of the stigma associated with psychosis and dementia.
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Alucinações/psicologia , Doença de Parkinson/psicologia , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Sonhos/psicologia , Feminino , Alucinações/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Fatores de Risco , Distúrbios do Início e da Manutenção do Sono/complicações , Distúrbios do Início e da Manutenção do Sono/psicologiaRESUMO
OBJECTIVES: Excessive daytime sleepiness (EDS) and sudden sleep onset (SOS) episodes are frequent in Parkinson׳s disease (PD). The objectives are to identify clinical characteristics and factors associated with EDS and SOS episodes. METHODS: Clinical demographic data were recorded (N=100, mean age=65.0±10.4). EDS was identified by the Epworth Sleepiness Scale (ESS>10) and SOS episodes were registered. Disease severity was evaluated by the Unified Parkinson׳s Disease Rating Scale (UPDRS, I, II, and III), sleep disturbances by the Parkinson׳s Disease Sleep Scale (PDSS<100), depressive symptoms by the Beck Depression Inventory (BDI>10) and rapid eye movement (REM) sleep behavior disorder (RBD) by the REM sleep behavior scale. Levodopa equivalent dose was measured. RESULTS: PD patients with EDS (67%) were predominately male (73.1%) and had worse disease severity (UPDRS II and III p= 0.005); SOS episodes (39%) were associated with disease duration, diabetes, sleep disturbances (PDSS Scale), disease severity (UPDRS I, II, III) and RBD symptoms (p<0.05). Stepwise regression analysis showed that EDS was independently associated with motor-symptoms severity (UPDRS III scale, p=0.003). SOS episodes were independently associated with disease duration (p=0.006) and sleep disturbances (PDSS scale, p=0.03): patients had more uncomfortable immobility at night, tremor on waking and snoring or difficult breathing. DISCUSSION: EDS and or SOS episodes are frequent and manifest a differential pattern in PD. SOS episodes are associated with longer disease duration, diabetes, sleep disturbances and RBD symptoms indicating that these "sleep attacks" are of multifactorial origin and probably influenced by brain structural abnormalities.
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OBJECTIVES: To determine if there are evidences of a causal relation between patent foramen ovale (PFO) x cryptogenic ischemic stroke (IS) in the young population and to analyze this relation in terms of causal criteria. METHODS: A total of 168 young patients with IS was retrospectively evaluated and divided into two groups: cryptogenic and with a defined cause. As a routine procedure, the patients underwent investigation of the PFO by means of transesophageal echocardiogram and/or transcranial Doppler sonography, both of them associated with the bubble test. Multivariate analysis was performed after demonstration of univariate statistical association between PFO x IS. RESULTS: After multivariate analysis, the association between PFO x cryptogenic IS was still statistically significant with odds ratio (adjusted OR = 3.3; 95% CI: 1.5-7.4). The total number of cerebral lesions also presented a significant association with cryptogenic IS (adjusted OR = 0.4; 95% CI: 0.2-0.9). The association between PFO and cryptogenic IS met all the causality criteria. CONCLUSION: The causal relation between PFO and cryptogenic IS in the young population is highly probable. This fact should be considered in the therapeutic decision.
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Forame Oval Patente/complicações , Acidente Vascular Cerebral/etiologia , Adolescente , Adulto , Feminino , Forame Oval Patente/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Fatores de RiscoRESUMO
A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and ¹H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.
Uma nova leucoencefalopatia foi recentemente descrita com base em achados característicos de ressonância magnética e espectroscopia de prótons por ressonância magnética. Leucoencefalopatia com envolvimento do tronco cerebral e da medula espinal e elevação do lactato cerebral é uma doença autossômica recessiva de aparecimento precoce e evolução lenta, caracterizada por disfunção cerebelar, piramidal e das colunas dorsais da medula. Ressonância magnética e espectroscopia de prótons tipicamente demonstram anormalidades na substância branca cerebral e cerebelar, com envolvimento característico de tratos no tronco encefálico e na medula espinhal e aumento de lactato na substância branca cerebral anormal. Relatamos três casos com achados clínicos e de neuroimagem característicos. Achados adicionais peculiares aos nossos pacientes são discutidos, como a elevação da creatina-quinase sérica e a presença de neuropatia motora distal.
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Adolescente , Humanos , Masculino , Tronco Encefálico/patologia , Ácido Láctico/análise , Leucoencefalopatia Multifocal Progressiva/patologia , Medula Espinal/patologia , Tronco Encefálico/química , Leucoencefalopatia Multifocal Progressiva/metabolismo , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Medula Espinal/químicaRESUMO
Lipofuscinose ceróide neuronal (LCN) constitui um grupo de doenças neurodegenerativas caracterizadas pelo depósito anormal de uma substância autofluorescente de lipopigmentos, que lembra ceróide e lipofuscina, dentro dos lisossomos dos neurônios e outros tipos de células. Os principais subtipos fenotípicos, baseando-se na idade de início, curso clínico e morfologia ultraestrutural, são classificados em formas infantil, infantil tardia, juvenil e adulta. Seis genes associados a lipofuscinose ceróide foram identificados e aproximadamente 150 mutações também são descritas. Relatamos sete pacientes com LCN baseados na história clínica, achados neurorradiológicos e patológicos avaliados na Rede Sarah de Hospitais de Reabilitação - Fortaleza - Ceará - Brasil. Cinco casos foram confirmados com biópsia de pele, sendo dois casos irmãos de pacientes confirmados. O diagnóstico precoce de LCN, uma doença com herança autossômica recessiva, é mandatório para aconselhamento genético e prevenção de outros casos na família. Os achados de imagem podem contribuir no diagnóstico diferencial.
The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of lipopigments, resembling ceroid and lipofuscin, within lysosomes of neurons and other types of cells. The main phenotypic subtypes have been established on the basis of age of onset, clinical course, and ultra structural morphology, and classified as infantile, late infantile, juvenile and adult forms. Six genes have been associated with human NCL and approximately 150 mutations have been described. The aim of this study is to report the clinical, neuroradiological, and morphological characteristics of seven patients evaluated at Sarah Network of Hospitals for Reabilitation - Fortaleza - Ceará - Brazil. Five cases were histopathologically confirmed with skin biopsy and two were siblings of confirmed patients. An early diagnosis of NCL, an autosomal recessive disease, is mandatory for genetic counseling and to avoid further cases in the family. Imaging findings can contribute to the differential diagnosis.
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Adolescente , Adulto , Criança , Humanos , Masculino , Lipofuscinoses Ceroides Neuronais/patologia , Biópsia , Eletroencefalografia , Espectroscopia de Ressonância Magnética/métodos , Lipofuscinoses Ceroides Neuronais , Prótons , Tomografia Computadorizada por Raios XRESUMO
OBJETIVOS: Determinar se há evidências de uma relação causal entre forame oval patente (FOP) e acidente vascular cerebral isquêmico (AVCI) criptogênico em jovens. Analisar essa relação à luz dos critérios de causalidade. MÉTODOS: Avaliaram-se, retrospectivamente, 168 pacientes jovens com AVCI, divididos em dois grupos: criptogênico e de causa definida. Como parte da rotina, os pacientes foram submetidos a pesquisa de FOP por ecocardiograma transesofágico e/ou Doppler transcraniano, ambos associados ao teste de bolhas. Demonstrada a associação estatística univariada entre FOP e AVCI, procedeu-se a análise multivariada. RESULTADOS: Após análise multivariada, a associação FOP e AVCI criptogênico mostrou-se ainda estatisticamente significante, com razão de chance (RCajustada de 3,3 (IC95 por cento 1,5-7,4). O número total de lesões no encéfalo também apresentou associação significativa com o AVCI criptogênico (RCajustada= 0,4 IC95 por cento 0,2-0,9). A associação FOP e AVCI criptogênico satisfez todos os critérios de causalidade. CONCLUSÃO: A relação causal entre o FOP e o AVCI criptogênico em jovens é altamente provável. Esse fato deve ser considerado na decisão terapêutica.
OBJECTIVES: To determine if there are evidences of a causal relation between patent foramen ovale (PFO) x cryptogenic ischemic stroke (IS) in the young population and to analyze this relation in terms of causal criteria. METHODS: A total of 168 young patients with IS was retrospectively evaluated and divided into two groups: cryptogenic and with a defined cause. As a routine procedure, the patients underwent investigation of the PFO by means of transesophageal echocardiogram and/or transcranial Doppler sonography, both of them associated with the bubble test. Multivariate analysis was performed after demonstration of univariate statistical association between PFO x IS. RESULTS: After multivariate analysis, the association between PFO x cryptogenic IS was still statistically significant with odds ratio (adjusted OR = 3.3; 95 percent CI: 1.5-7.4). The total number of cerebral lesions also presented a significant association with cryptogenic IS (adjusted OR = 0.4; 95 percent CI: 0.2-0.9). The association between PFO and cryptogenic IS met all the causality criteria. CONCLUSION: The causal relation between PFO and cryptogenic IS in the young population is highly probable. This fact should be considered in the therapeutic decision.