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Hepatocellular carcinoma presenting with endobronchial metastases is extremely rare, with less than 15 cases reported over the last 4 decades. We describe a case of a 62-year-old male who first presented with pulmonary symptoms secondary to bilateral endobronchial metastatic disease from newly diagnosed hepatocellular carcinoma.
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Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder associated with GGC repeats of >60 to 500 copies in the 5'-untranslated region of NOTCH2NLC. The clinical and genetic characterization of NIID outside of East Asia remains unknown. We identified twelve patients who underwent genetic testing using long-read sequencing or repeat primed polymerase chain reaction. All were positive for a GGC repeat expansion; the median repeat length was 107 (range 92-138). Ten were Chinese and two of Malay ethnicity. Age at onset ranged from 50 to 69 years. Eight (66.7%) patients had dementia, while four (33.3%) patients were oligosymptomatic, without typical NIID symptoms of dementia, Parkinsonism, or muscle weakness. GGA interruptions within the GGC expansion were present in four patients; the number of GGA interruptions was highest (6.71%) in the patient with the earliest age at onset (50 years). Median plasma neurofilament light level was 47.3 pg/mL in seven patients (range 26-380 pg/mL). The highest level (380 pg/mL) was found in one patient who experienced an encephalitic episode. Overall, we describe a cohort of genetically confirmed NIID patients from Southeast Asia and provide further information that the presence of GGA interruptions within GGC repeat expansions may serve as a potential genetic modifier in NIID.
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Predisposição Genética para Doença , Doenças Neurodegenerativas/genética , Receptor Notch2/genética , Expansão das Repetições de Trinucleotídeos/genética , Idade de Início , Idoso , China/epidemiologia , Estudos de Coortes , Feminino , Testes Genéticos , Humanos , Corpos de Inclusão Intranuclear/genética , Corpos de Inclusão Intranuclear/patologia , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/patologia , LinhagemRESUMO
We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for >1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40 years, whereas another patient with 107 repeats developed motor symptoms and cognitive impairment after 8 to 10 years. Neuroimaging in this patient revealed severe leukoencephalopathy; diffusion-weighted imaging hyperintensity in the corticomedullary junction and skin biopsy revealed intranuclear inclusions suggestive of intranuclear inclusion body disease (NIID). No GGC repeats of >60 units were detected in familial ET cases and controls, although 4 ET patients carried 47 to 53 "intermediate" repeats. NOTCH2NLC GGC repeat expansions can be associated with sporadic ET. Carriers presenting with a pure ET phenotype may or may not convert to NIID up to 4 decades after initial tremor onset. ANN NEUROL 2020;88:614-618.
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Tremor Essencial/genética , Tremor Essencial/patologia , Fenótipo , Receptor Notch2/genética , Idoso , Idoso de 80 Anos ou mais , Progressão da Doença , Feminino , Seguimentos , Humanos , Corpos de Inclusão Intranuclear/patologia , Leucoencefalopatias/genética , Leucoencefalopatias/patologia , Masculino , Pessoa de Meia-Idade , Expansão das Repetições de TrinucleotídeosRESUMO
The above article was published with incorrect list of authors. We have added Seyed Ehasan Saffari and his affiliation as the addition of the new author to the author list was requested at revision stage.
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PURPOSE: Primary central nervous system lymphoma (PCNSL) presenting with atypical radiological findings often leads to delayed diagnosis. We aim to characterize the radiological features and apparent diffusion coefficient (ADC) values of PCNSL with atypical neuroimaging presentation in our local population. METHODS: We retrospectively reviewed all patients with histological diagnosis of CNS lymphoma at our tertiary center from 2005 to 2016. We screened all initial pre-treatment MRIs and excluded cases with typical imaging findings of contrast-enhancing lesions without intra-lesional susceptibility and central non-enhancement. Additional exclusion criteria included (i) relapsed PCNSL, (ii) secondary CNS lymphoma, and (iii) positive HIV status. Two independent raters scored MRI and CT scans at presentation. We computed ADC values in the tumors by 2 methods: single region of interest (ROI1) and multiple ROI (ROI2). RESULTS: Sixteen (25.4%) of 63 patients with CNS lymphoma met inclusion criteria. There were 8 men; median age was 61 (range 22-81) years. Histological diagnoses were diffuse large B cell lymphoma (n = 14) and intravascular lymphoma (n = 2). Fifteen (93%) patients had enhancing lesions (5 solitary; 10 multifocal); most enhancing lesions had T1 hypointense (67%) and T2 mixed (53%) signals, and 6 (40%) had central non-enhancing regions. Nine (56%) patients had lesions with susceptibility. Using the ROI methods, median values for minimum ADC and mean ADC ranged 0.65-0.71 × 10-3 mm2/s and 0.79-0.84 × 10-3 mm2/s respectively. CONCLUSION: PCNSL with atypical radiological features represented one-fourth of our histologically diagnosed lymphoma cases; low ADC values in atypical lesions should prompt clinicians to consider early biopsy for definitive diagnosis.
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Neoplasias do Sistema Nervoso Central/diagnóstico por imagem , Linfoma/diagnóstico por imagem , Neuroimagem/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias do Sistema Nervoso Central/patologia , Meios de Contraste , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Linfoma/patologia , Masculino , Meglumina , Pessoa de Meia-Idade , Compostos Organometálicos , Estudos Retrospectivos , Tomografia Computadorizada por Raios XRESUMO
A previously well female presented with a history of progressive functional decline. She had a known history of generalized seropositive myasthenia gravis on long-term mycophenolate mofetil and pyridostigmine. MRI of her brain reported multiple cerebral abscesses based on radiological features. The patient was commenced on intravenous antibiotics, but there was no clinical or radiological response to treatment. Decision was made for a stereotactic biopsy. Intraoperative tissue cultures were negative for infection. However, histology reported B-cell lymphoma with morphological features changes typically seen in corticosteroid-treated lymphoma - an unexpected finding as no steroids were administered as part of her treatment. Owing to the unusual diagnosis, the case is presented in corroboration with current literature.
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The diagnosis of a large solitary lytic skull vault lesion in adults is a challenge due to variable aggressiveness and overlapping features. The purpose of this article is to demonstrate the use of an imaging approach to narrow the differential diagnosis when a large solitary lytic skull vault lesion is encountered. The initial imaging assessment using computed tomography (CT) is invaluable in determining lesion aggressiveness based on bony margins and skull tables involvement. Further assessment with magnetic resonance (MR) imaging including diffusion weighted imaging (DWI) aids in soft tissue characterization. We present cases of large solitary lytic skull vault lesions in adults, emphasizing on salient and atypical imaging features, with pathological correlation for better understanding of the disease processes that underlie the imaging features.
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Imageamento por Ressonância Magnética/métodos , Neoplasias Cranianas/diagnóstico por imagem , Neoplasias Cranianas/patologia , Tomografia Computadorizada por Raios X/métodos , Adulto , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Masculino , Crânio/diagnóstico por imagem , Crânio/patologiaAssuntos
Traumatismos Craniocerebrais/complicações , Neoplasias de Cabeça e Pescoço/diagnóstico , Hemangiossarcoma/diagnóstico , Hematoma/diagnóstico , Couro Cabeludo , Idoso , Diagnóstico Diferencial , Evolução Fatal , Neoplasias de Cabeça e Pescoço/complicações , Hemangiossarcoma/complicações , Hematoma/etiologia , Humanos , Masculino , Couro Cabeludo/diagnóstico por imagem , Couro Cabeludo/lesões , Couro Cabeludo/patologiaRESUMO
BACKGROUND: Juxtafacet cysts, synovial and ganglion cysts, emanate from the facet joints. Patients with these cysts are typically asymptomatic but may rarely present with radiculopathy and/or myelopathy. CASE DESCRIPTION: A 72-year-old female presented with a 1-month history of progressive lower extremity weakness (left more than right), numbness, and urinary incontinence. Notably, she also had a C7 sensory level to pin appreciation of 1-month duration. The magnetic resonance imaging showed an extradural C7 cystic lesion whose capsule enhanced with gadolinium, causing severe cord compression. The patient underwent a left C7 hemilaminectomy for complete excision of the cyst; postoperatively in 2-weeks duration, she regained full neurological function. The final histopathology was consistent with a ganglion cyst. CONCLUSION: Cervical juxtafacet cysts rarely cause compressive myelopathy. They may be readily diagnosed and resected with excellent postoperative outcomes.
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PURPOSE: Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder described mainly in the Japanese population, with characteristic DWI abnormalities at the junction between gray and white matter. We identify possible cases of NIID in the picture archive and communication system (PACS) of a tertiary neurological referral hospital in Singapore and describe their radiological features. METHODS: The neuroradiology imaging database was reviewed using keyword search of radiological reports to identify patients who had "subcortical U fibre" abnormalities on DWI. MRI were retrospectively reviewed, and those fulfilling inclusion criteria were invited for skin biopsy to detect nuclear inclusions by light and electron microscopy. RESULTS: Twelve Chinese patients (nine female; median age 70.5 years) were enrolled. Seven patients were being assessed for dementia and five for other neurological indications. In all patients, DWI showed distinctive subcortical high signal with increased average apparent diffusion coefficient (ADC), involving frontal, parietal, and temporal more than occipital lobes; the corpus callosum and external capsule were affected in some patients. On T2-weighted images, cerebral and cerebellar atrophy and white matter hyperintensity of Fazekas grade 2 and above were seen in all patients. Three patients underwent skin biopsy; all were positive for intranuclear hyaline inclusion bodies on either p62 staining or electron microscopy, which are pathognomonic for NIID. CONCLUSION: Previously undiagnosed patients with NIID can be identified by searching for abnormalities at the junction between gray and white matter on DWI in PACS and subsequently confirmed by skin biopsy. Radiologists should recognize the distinctive neuroimaging pattern of this dementing disease.
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Imagem de Difusão por Ressonância Magnética , Doenças Neurodegenerativas/diagnóstico por imagem , Idoso , Feminino , Humanos , Corpos de Inclusão Intranuclear , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/epidemiologia , Estudos Retrospectivos , Singapura/epidemiologiaRESUMO
Brain and breast tumors cause significant morbidity and mortality worldwide. Accurate and expedient histological diagnosis of patients' tumor specimens is required for subsequent treatment and prognostication. Currently, histology slides are visually inspected by trained pathologists, but this process is both time and labor-intensive. In this paper, we propose an automated process to classify histology slides of both brain and breast tissues using the Google Inception V3 convolutional neural network (CNN). We report successful automated classification of brain histology specimens into normal, low grade glioma (LGG) or high grade glioma (HGG). We also report for the first time the benefit of transfer learning across different tissue types. Pre-training on a brain tumor classification task improved CNN performance accuracy in a separate breast tumor classification task, with the F1 score improving from 0.547 to 0.913. We constructed a dataset using brain histology images from our own hospital and a public breast histology image dataset. Our proposed method can assist human pathologists in the triage and inspection of histology slides to expedite medical care. It can also improve CNN performance in cases where the training data is limited, for example in rare tumors, by applying the learned model weights from a more common tissue type.
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Neoplasias Encefálicas/classificação , Encéfalo , Glioma/classificação , Aprendizado de Máquina , Redes Neurais de Computação , Encéfalo/patologia , Neoplasias Encefálicas/patologia , Glioma/patologia , HumanosRESUMO
BACKGROUND: Pediatric intracranial aneurysms are extremely rare. In this age group, cerebral vascular anomalies have been associated with the development of intracranial aneurysms. CASE DESCRIPTION: We present a case of a previously well 11-year-old boy who presented with seizures secondary to a giant, unruptured, and partially thrombosed right middle cerebral artery (MCA) aneurysm. Extensive workup for underlying infective and autoimmune etiology was negative. Of interest, this vascular lesion was found to originate from an anomalous M2 branch, which ran an aberrant parallel course within the Sylvian fissure to the main and distally bifurcating MCA. The patient underwent successful surgical clipping and excision of the giant aneurysm. CONCLUSIONS: Because of the infrequency of the diagnosis, clinical presentation, and its unique neurovascular anatomy, the management of this case is discussed in corroboration with current literature. In addition, highlighting this unusual case in an individual adds to the growing body of literature for better disease understanding, especially in the pediatric population.
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Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Aneurisma Intracraniano/diagnóstico por imagem , Trombose Intracraniana/diagnóstico por imagem , Artéria Cerebral Média/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/complicações , Angiografia Cerebral , Criança , Humanos , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/patologia , Aneurisma Intracraniano/cirurgia , Trombose Intracraniana/complicações , Trombose Intracraniana/patologia , Trombose Intracraniana/cirurgia , Masculino , Artéria Cerebral Média/anormalidades , Artéria Cerebral Média/cirurgia , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: To describe a case of inflammatory Terrien's marginal degeneration (TMD) in a young Chinese girl complicated by a corneoscleral cyst who ultimately underwent surgical treatment with cyst excision, corneal patch graft and amniotic membrane graft. METHODS: Case report. RESULTS: A 12-year-old Chinese female presented initially with redness and discharge from her right eye with bilateral superior corneal thinning. The patient was diagnosed with TMD. She subsequently developed a corneoscleral cyst 2 years later which doubled in size within 1 year. The patient underwent a cyst excision with lamellar corneal patch graft and amniotic membrane grafting. Histopathological examination of the cyst wall showed a lining of squamous epithelium, consistent with a corneoscleral cyst. CONCLUSIONS: This is an interesting case highlighting the rare complication of corneoscleral cyst in a young patient with inflammatory TMD. Excision of the cyst with a corneal patch graft and amniotic membrane grafting without any chemical cautery is effective in preventing recurrence.
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Doenças da Córnea/patologia , Doenças da Esclera/patologia , Criança , Cistos , Feminino , HumanosAssuntos
Diagnóstico Diferencial , Linfoma Difuso de Grandes Células B/diagnóstico , Paniculite/diagnóstico por imagem , Biópsia , Antígenos CD79/metabolismo , Sistema Nervoso Central , Feminino , Humanos , Imuno-Histoquímica , Inflamação , Antígeno Ki-67/metabolismo , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , PrognósticoRESUMO
BACKGROUND: There are limited data to guide clinicians in differentiating tumefactive multiple sclerosis (TMS) from CNS neoplasms. Identifying distinguishing features will inform diagnosis and management and avoid unnecessary diagnostic biopsy. Our study aimed to determine the clinical and radiologic features that differentiate TMS from glioma and CNS lymphoma (CNSL) in patients who present with tumefactive lesions. METHODS: We retrospectively reviewed all patients with tumefactive lesions and histologically proven or clinically diagnosed TMS, glioma, or CNSL at our tertiary center from 1999 to 2012. Two independent blinded neuroradiologists rated MRI brain scans at presentation. We correlated patients' demographic, clinical, laboratory, and radiologic data to final diagnosis. RESULTS: A total of 133 patients (10 TMS, 85 glioma, 38 CNSL) were analyzed. Patients with TMS were younger and a greater proportion were women. Presenting symptoms did not distinguish between diagnoses. TMS lesions were smaller compared to glioma and CNSL, had no or mild mass effect, and were always associated with contrast enhancement. Radiologic features that were more frequent in TMS lesions were incomplete rim (open-ring) enhancement, incomplete peripheral diffusion restriction, and mixed T2 signal and CT hypoattenuation of MRI-enhancing components (all p < 0.05). CONCLUSIONS: Radiologic features but not presenting symptoms are useful in distinguishing TMS from CNS neoplasms.
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BACKGROUND: Glioblastomas (GBM) are highly infiltrative, cellular and mitotically active tumors with large histologic variations within and between tumours. Several subtypes have been described including the GBM with oligodendroglial differentiation (GBM-O) and primitive neuroectodermal tumour components (GBM-PNET). We report the first described case of a patient with synchronous multi-centric GBM-O and GBM-PNET components. CASE DESCRIPTION: A patient, who presented with a short history of progressive headache and difficulty with memory recall, was found on MRI imaging to have two intracranial lesions. These showed heterogeneous enhancement and were found in the left frontal and left temporal regions. The patient underwent gross total resection of these two lesions which were found to show GBM-O and GBM-PNET differentiations. CONCLUSION: Although tumour cell migration in the context of GBM is a well-recognized phenomenon, the traditional hypothesis is not able to satisfactorily explain this case of multicentric GBM whereby the two lesions demonstrate different cell origins. More current understanding of the migratory pathways from the subventricular zone provide an alternate and plausible pathway that fits our patient's unusual diagnosis.
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Second lymphoid neoplasms are an uncommon but recognized feature of non-Hodgkin's lymphomas, putatively arising secondary to common genetic or environmental risk factors. Previous limited evaluations of clonal relatedness between successive mature B-cell malignancies have yielded mixed results. We describe the case of a man with intravascular large B-cell lymphoma involving the central nervous system who went into clinical remission following immunochemotherapy and brain radiation, only to relapse 2 years later with a plasmacytoma of bone causing cauda equina syndrome. The plasmacytoma stained strongly for the cell cycle regulator cyclin D1 on immunohistochemistry, while the original intravascular large cell lymphoma was negative, a disparity providing no support for clonal identity between the 2 neoplasms. Continued efforts atcataloging and evaluating unique associations of B-cell malignancies are critical to improving understanding of overarching disease biology in B-cell malignancies.
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OBJECTIVES: The primary aims of the study were to examine the effect of resveratrol on skeletal muscle SIRT1 expression and energy expenditure in subjects with Type 2 diabetes mellitus (T2DM). BACKGROUND: Animal and in vivo studies indicate that resveratrol increases SIRT1 expression that stimulates PGC1α activity. Subsequent upregulation of AMPK and GLUT4 expression are associated with improved insulin sensitivity in peripheral tissues. METHODS: Ten subjects with T2DM were randomized in a double-blind fashion to receive 3g resveratrol or placebo daily for 12 weeks. Secondary outcomes include measures of AMPK, p-AMPK and GLUT4 expression levels, energy expenditure, physical activity levels, distribution of abdominal adipose tissue and skeletal muscle fiber type composition, body weight, HbA1c, plasma lipid subfraction, adiponectin levels, and insulin sensitivity. RESULTS: There was a significant increase in both SIRT1 expression (2.01 vs. 0.86 arbitrary units [AU], p = .016) and p-AMPK to AMPK expression ratio (2.04 vs. 0.79 AU, p = .032) in the resveratrol group compared with the placebo group. Although the percentage of absolute change (8.6 vs. -13.9%, p = .033) and percentage of predicted resting metabolic rate (RMR; 7.8 vs. -13.9%, p = .013) were increased following resveratrol, there was a significant reduction in average daily activity (-38 vs. 43.2%, p = .028) and step counts (-39.5 vs. 11.8%, p = .047) when compared with placebo. CONCLUSIONS: In patients with T2DM, treatment with resveratrol regulates energy expenditure through increased skeletal muscle SIRT1 and AMPK expression. These findings indicate that resveratrol may have beneficial exercise-mimetic effects in patients with T2DM.