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1.
BMC Med Imaging ; 24(1): 125, 2024 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-38802734

RESUMO

PURPOSE: Accurate prognostication may aid in the selection of patients who will benefit from surgery at recurrent WHO grade 4 glioma. This study aimed to evaluate the role of serial tumour volumetric measurements for prognostication at first tumour recurrence. METHODS: We retrospectively analyzed patients with histologically-diagnosed WHO grade 4 glioma at initial and at first tumour recurrence at a tertiary hospital between May 2000 and September 2018. We performed auto-segmentation using ITK-SNAP software, followed by manual adjustment to measure serial contrast-enhanced T1W (CE-T1W) and T2W lesional volume changes on all MRI images performed between initial resection and repeat surgery. RESULTS: Thirty patients met inclusion criteria; the median overall survival using Kaplan-Meier analysis from second surgery was 10.5 months. Seventeen (56.7%) patients received treatment post second surgery. Univariate cox regression analysis showed that greater rate of increase in lesional volume on CE-T1W (HR = 2.57; 95% CI [1.18, 5.57]; p = 0.02) in the last 2 MRI scans leading up to the second surgery was associated with a higher mortality likelihood. Patients with higher Karnofsky Performance Score (KPS) (HR = 0.97; 95% CI [0.95, 0.99]; p = 0.01) and who received further treatment following second surgery (HR = 0.43; 95% CI [0.19, 0.98]; p = 0.04) were shown to have a better survival. CONCLUSION: Higher rate of CE-T1W lesional growth on the last 2 MRI images prior to surgery at recurrence was associated with increase mortality risk. A larger prospective study is required to determine and validate the threshold to distinguish rapidly progressive tumour with poor prognosis.


Assuntos
Neoplasias Encefálicas , Glioma , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia , Humanos , Glioma/diagnóstico por imagem , Glioma/mortalidade , Glioma/cirurgia , Glioma/patologia , Masculino , Feminino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico por imagem , Estudos Retrospectivos , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética/métodos , Adulto , Prognóstico , Idoso , Gradação de Tumores , Carga Tumoral , Estimativa de Kaplan-Meier
6.
Med Educ ; 55(11): 1322-1323, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34494294
9.
eNeurologicalSci ; 21: 100275, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32984561

RESUMO

We describe the clinical, laboratory and radiological features of 3 critically ill patients with COVID-19 who developed severe encephalopathy. The first patient did not regain consciousness when sedation was removed at the end of 2 weeks of intensive care. He had received treatment with convalescent plasma. His clinical examination was remarkable for intact brainstem reflexes, roving eye movements, later transient ocular flutter; and then what appeared to be slow ocular dipping. He had no coherent volitional response to the environment. The second patient recovered with measurable cognitive deficits after a prolonged period of encephalopathy. He had received combination treatment with interferon beta 1b and lopinavir/ritonavir. The third patient remained in persistent, severe agitated delirium and died 3 months into his illness. The MRI of the 3 patients showed multifocal abnormalities predominantly in the cerebral white matter, with varying involvement of the grey matter, brainstem and spinal cord. Case 1's MRI changes were consistent with acute disseminated encephalomyelitis. The patients also displayed blood markers, to varying degree, of autoimmunity and hypercoagulability. We were not able to convincingly show, from microbiological as well as immunological evaluation, if the effects of COVID-19 on these patients' nervous system were a direct consequence of the virus, proinflammatory-thrombotic state or a combination. Patient 1 responded partially to empirical, albeit delayed, therapy with intravenous immunoglobulins. Patient 2 recovered with no specific treatment. These cases illustrate the need to understand the full spectrum of encephalopathy associated with COVID-19 so as to better guide its management.

10.
J Neurol Sci ; 418: 117118, 2020 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-32977228

RESUMO

PURPOSE: To describe the spectrum of COVID-19 neurology in Singapore. METHOD: We prospectively studied all microbiologically-confirmed COVID-19 patients in Singapore, who were referred for any neurological complaint within three months of COVID-19 onset. Neurological diagnoses and relationship to COVID-19 was made by consensus guided by contemporaneous literature, refined using recent case definitions. RESULTS: 47,572 patients (median age 34 years, 98% males) were diagnosed with COVID-19 in Singapore between 19 March to 19 July 2020. We identified 90 patients (median age 38, 98.9% males) with neurological disorders; 39 with varying certainty of relationship to COVID-19 categorised as: i) Central nervous system syndromes-4 acute disseminated encephalomyelitis (ADEM) and encephalitis, ii) Cerebrovascular disorders-19 acute ischaemic stroke and transient ischaemic attack (AIS/TIA), 4 cerebral venous thrombosis (CVT), 2 intracerebral haemorrhage, iii) Peripheral nervous system-7 mono/polyneuropathies, and a novel group, iv) Autonomic nervous system-4 limited dysautonomic syndromes. Fifty-one other patients had pre/co-existent neurological conditions unrelated to COVID-19. Encephalitis/ADEM is delayed, occurring in critical COVID-19, while CVT and dysautonomia occurred relatively early, and largely in mild infections. AIS/TIA was variable in onset, occurring in patients with differing COVID-19 severity; remarkably 63.2% were asymptomatic. CVT was more frequent than expected and occurred in mild/asymptomatic patients. There were no neurological complications in all 81 paediatric COVID-19 cases. CONCLUSION: COVID-19 neurology has a wide spectrum of dysimmune-thrombotic disorders. We encountered relatively few neurological complications, probably because our outbreak involved largely young men with mild/asymptomatic COVID-19. It is also widely perceived that the pandemic did not unduly affect the Singapore healthcare system.


Assuntos
COVID-19/epidemiologia , Doenças do Sistema Nervoso/epidemiologia , Adulto , Comorbidade , Feminino , Humanos , Masculino , Pandemias , Estudos Prospectivos , SARS-CoV-2 , Singapura/epidemiologia , Adulto Jovem
12.
Clin Genet ; 98(3): 274-281, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32602554

RESUMO

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.


Assuntos
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 , Linhagem
13.
Ann Neurol ; 88(3): 614-618, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32495371

RESUMO

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.


Assuntos
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 Trinucleotídeos
14.
Neuroradiology ; 62(6): 765, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32211926

RESUMO

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.

15.
Neuroradiology ; 62(6): 669-676, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32077984

RESUMO

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.


Assuntos
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 X
16.
Clin Imaging ; 59(2): 129-143, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31816540

RESUMO

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.


Assuntos
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/patologia
18.
Neuroradiology ; 61(11): 1281-1290, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31292692

RESUMO

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.


Assuntos
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/epidemiologia
19.
Neurol Clin Pract ; 7(1): 53-64, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29849229

RESUMO

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.

20.
Korean J Radiol ; 17(5): 664-73, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27587955

RESUMO

Eye globe abnormalities can be readily detected on dedicated and non-dedicated CT and MR studies. A primary understanding of the globe anatomy is key to characterising both traumatic and non-traumatic globe abnormalities. The globe consists of three primary layers: the sclera (outer), uvea (middle), and retina (inner layer). The various pathological processes involving these layers are highlighted using case examples with fundoscopic correlation where appropriate. In the emergent setting, trauma can result in hemorrhage, retinal/choroidal detachment and globe rupture. Neoplasms and inflammatory/infective processes predominantly occur in the vascular middle layer. The radiologist has an important role in primary diagnosis contributing to appropriate ophthalmology referral, thereby preventing devastating consequences such as vision loss.


Assuntos
Oftalmopatias/diagnóstico por imagem , Diagnóstico Diferencial , Oftalmopatias/patologia , Traumatismos Oculares/diagnóstico por imagem , Traumatismos Oculares/patologia , Neoplasias Oculares/diagnóstico por imagem , Neoplasias Oculares/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Uveíte/diagnóstico por imagem , Uveíte/patologia
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