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https://www.readbyqxmd.com/read/28926154/brain-functional-connectome-abnormalities-in-als-are-associated-with-disability-and-cortical-hyperexcitability
#1
Nimeshan Geevasinga, Mayuresh S Korgaonkar, Parvathi Menon, Mehdi Van den Bos, Lavier Gomes, Sheryl Foster, Matthew C Kiernan, Steve Vucic
OBJECTIVE: The present study utilized a multimodality approach encompassing connectome network combined with brain volume analysis, and assessment of cortical excitability to provide novel insights into amyotrophic lateral sclerosis (ALS) pathogenesis. METHODS: Magnetic resonance images (MRI) were acquired using a 3.0 Tesla GE Signa HDx scanner, using an 8-channel head coil. MR images for the resting state scan were acquired using echo planar imaging MR sequence, acquiring 40 contiguous axial/oblique slices...
September 19, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28926131/region-specific-impairment-of-the-cervical-spinal-cord-sc-in-amyotrophic-lateral-sclerosis-a-preliminary-study-using-sc-templates-and-quantitative-mri-diffusion-tensor-imaging-inhomogeneous-magnetization-transfer
#2
Henitsoa Rasoanandrianina, Aude-Marie Grapperon, Manuel Taso, Olivier M Girard, Guillaume Duhamel, Maxime Guye, Jean-Philippe Ranjeva, Shahram Attarian, Annie Verschueren, Virginie Callot
In this preliminary study, our objective was to investigate the potential of high-resolution anatomical imaging, diffusion tensor imaging (DTI) and conventional/inhomogeneous magnetization transfer imaging [magnetization transfer (MT)/inhomogeneous magnetization transfer (ihMT)] at 3 T, analyzed with template-extracted regions of interest, to measure the atrophy and structural changes of white (WM) and gray (GM) matter spinal cord (SC) occurring in patients with amyotrophic lateral sclerosis (ALS). Ten patients with ALS and 20 age-matched healthy controls were recruited...
September 19, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#3
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28891727/methodology-of-the-zoc-bhvi-high-myopia-cohort-study-the-onset-and-progression-of-myopic-pathologies-and-associated-risk-factors-in-highly-myopic-chinese
#4
Yanxian Chen, Ou Xiao, Xinxing Guo, Decai Wang, Padmaja Sankaridurg, Ian Morgan, Mingguang He
PURPOSE: The increasing prevalence of high myopia and its associated pathologies has raised challenges to ophthalmic services. This project aims to explore the onset and progression of myopic pathologies in highly myopic eyes through a prospective research cohort established in South China. METHODS: Patients with high myopia (sphere ≤ -6.00 D) visiting the optometric clinic of Zhongshan Ophthalmic Center (ZOC) were invited to participate in the baseline examinations and follow-up visit over a 10-year period...
September 11, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28879883/the-role-of-diffusion-tensor-imaging-in-spinal-pathology-a-review
#5
REVIEW
Dan C Li, James G Malcolm, Rima S Rindler, Griffin R Baum, Avinash Rao, Shekar N Khurpad, Faiz U Ahmad
Diffusion tensor imaging (DTI) allows for noninvasive, in vivo visualization of white matter fiber tracts in the central nervous system by measuring the diffusion of water molecules. It provides both quantitative and qualitative (i.e., tractography) means to describe a region-of-interest. While protocols for the use of DTI are better established in the brain, the efficacy and potential applications of DTI in spinal cord pathology are less understood. In this review, we examine the current literature regarding the use of DTI in the spinal cord pathology, and in particular its diagnostic and prognostic value in traumatic injury, spinal tumors, cervical myelopathies, amyotrophic lateral sclerosis, and multiple sclerosis...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28872040/structural-magnetic-resonance-imaging-in-frontotemporal-lobar-dementia
#6
Anne Bertrand, Sebastian Stroër, Isabelle Le Ber, Marc Teichmann, Didier Dormont
Frontotemporal lobar dementia (FTLD) is a heterogeneous group of neurodegenerative diseases. FTLD encompass: 1) behavioral forms, sometimes associated with amyotrophic lateral sclerosis; 2) linguistic forms (semantic and non-fluent primary progressive aphasia); 3) atypical parkinsonian syndromes (progressive supranuclear palsy and corticobasal syndrome). Standard brain MRI allows for strengthening the clinical suspicion of FTLD, by showing a pattern of atrophy in relation with the patient's clinical symptoms: frontotemporal anterior atrophy in behavioral forms; temporopolar or inferior left frontal atrophy in the linguistic forms; mesencephalic or corticosubcortical hemispheric atrophy in forms with atypical pakinsonism...
September 1, 2017: Gériatrie et Psychologie Neuropsychiatrie du Vieillissement
https://www.readbyqxmd.com/read/28855404/cognition-and-gray-and-white-matter-characteristics-of-presymptomatic-c9orf72-repeat-expansion
#7
Janne M Papma, Lize C Jiskoot, Jessica L Panman, Elise G Dopper, Tom den Heijer, Laura Donker Kaat, Yolande A L Pijnenburg, Lieke H Meeter, Rick van Minkelen, Serge A R B Rombouts, John C van Swieten
OBJECTIVE: To investigate cognitive function, gray matter volume, and white matter integrity in the presymptomatic stage of chromosome 9 open reading frame 72 repeat expansion (C9orf72RE). METHODS: Presymptomatic C9orf72RE carriers (n = 18) and first-degree family members without a pathogenic expansion (healthy controls [HC], n = 15) underwent a standardized protocol of neuropsychological tests, T1-weighted MRI, and diffusion tensor imaging within our cohort study of autosomal dominant frontotemporal dementia (FTD)...
August 30, 2017: Neurology
https://www.readbyqxmd.com/read/28828346/hirayama-s-disease-a-rare-clinical-variant-of-amyotrophic-lateral-sclerosis
#8
Swati C Aundhakar, Sanket K Mahajan, Daanish A Chhapra
Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. Here, we present a case of Hirayama's disease where disease achieved a plateau after 3 years with no further progression. His electrophysiological studies, and clinical picture, and magnetic resonance imaging findings were consistent with a diagnosis of Hirayama's disease...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28802959/a-combined-tract-based-spatial-statistics-and-voxel-based-morphometry-study-of-the-first-mri-scan-after-diagnosis-of-amyotrophic-lateral-sclerosis-with-subgroup-analysis
#9
A R Alruwaili, K Pannek, A Coulthard, R Henderson, N D Kurniawan, P McCombe
BACKGROUND AND PURPOSE: This study aims to compare the cortical and subcortical deep gray matter (GM) and white matter (WM) of ALS subjects and controls and to compare ALS subjects with (ALScog) and without (ALSnon-cog) cognitive impairment. MATERIALS AND METHODS: The study was performed in 30 ALS subjects, and 19 healthy controls. Structural T1- and diffusion-weighted MRI data were analyzed using voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS)...
August 9, 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28794983/multimodal-structural-mri-in-the-diagnosis-of-motor-neuron-diseases
#10
Pilar M Ferraro, Federica Agosta, Nilo Riva, Massimiliano Copetti, Edoardo Gioele Spinelli, Yuri Falzone, Gianni Sorarù, Giancarlo Comi, Adriano Chiò, Massimo Filippi
This prospective study developed an MRI-based method for identification of individual motor neuron disease (MND) patients and test its accuracy at the individual patient level in an independent sample compared with mimic disorders. 123 patients with amyotrophic lateral sclerosis (ALS), 44 patients with predominantly upper motor neuron disease (PUMN), 20 patients with ALS-mimic disorders, and 78 healthy controls were studied. The diagnostic accuracy of precentral cortical thickness and diffusion tensor (DT) MRI metrics of corticospinal and motor callosal tracts were assessed in a training cohort and externally proved in a validation cohort using a random forest analysis...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28750498/emerging-clinical-issues-and-multivariate-analyses-in-pet-investigations
#11
Javier Arbizu, Alessandro Giuliani, Jaime Gallego Perez-Larraya, Mario Riverol, Cathrine Jonsson, Berta García-García, Maribel Morales, Laura Imaz, Marco Pagani
PET using 18F-2-fluoro-2-deoxy-D-glucose (FDG-PET) has been gradually introduced in the diagnostic clinical criteria of the most prevalent neurodegenerative diseases. Moreover, an increasing amount of literature have shown that the information provided by FDG-PET enhances the sensitivity of standard imaging biomarkers in less frequent disorders in which an early differential diagnosis can be of paramount relevance for patient management and outcome. Therefore emerging uses of FDG-PET may be important in prion diseases, autoimmune encephalitis and amyotrophic lateral sclerosis...
July 27, 2017: Quarterly Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28705085/international-survey-of-als-experts-about-critical-questions-for-assessing-patients-with-als
#12
Mamede De Carvalho, Adam Ryczkowski, Peter Andersen, Marta Gromicho, Julian Grosskreutz, Magdalena Kuźma-Kozakiewicz, Susanne Petri, Maria Piotrkiewicz, Gabriel Miltenberger Miltenyi
OBJECTIVE: To define an applicable dataset for ALS patient registries we weighted specific clinical items as scored by worldwide ALS experts. METHODS: Sixty participants were invited based on relevant clinical work, publications and personal acquaintance. They rated 160 clinical items consensually agreed by the members of our project, incorporating specialists from five European Centres. Scoring scheme was defined as: 1 - essential; 2 - important; 3 - not very important...
July 13, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28638712/frontal-assessment-battery-and-frontal-atrophy-in-amyotrophic-lateral-sclerosis
#13
Tatsuhiro Terada, Jun Miyata, Tomokazu Obi, Manabu Kubota, Miho Yoshizumi, Kinya Yamazaki, Kouichi Mizoguchi, Toshiya Murai
OBJECTIVES: To determine the potential utility of the frontal assessment battery (FAB) in assessing cognitive impairments in amyotrophic lateral sclerosis (ALS), we investigated the association between the FAB score and regional gray matter volume, and ascertained whether the regional brain alterations related to cognitive impairments occur in relatively mild stage of ALS. MATERIALS AND METHODS: Twenty-four ALS patients with a Mini-Mental State Examination score of >23, a normal score on the Self-Rating Depression Scale, little or no disturbance in speech and handling utensils on the ALS Functional Rating Scale (ALSFRS), and normal measures on respiratory tests (respiratory function test and arterial blood gas analysis), and two age-matched normal control groups (one for FAB assessment and the other for brain morphometry) underwent FAB testing and structural magnetic resonance imaging...
June 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28600740/functional-reorganization-during-cognitive-function-tasks-in-patients-with-amyotrophic-lateral-sclerosis
#14
Jürgen Keller, Sarah Böhm, Helena E A Aho-Özhan, Markus Loose, Martin Gorges, Jan Kassubek, Ingo Uttner, Sharon Abrahams, Albert C Ludolph, Dorothée Lulé
Cognitive deficits, especially in the domains of social cognition and executive function including verbal fluency, are common in amyotrophic lateral sclerosis (ALS) patients. There is yet sparse understanding of pathogenesis of the underlying, possibly adaptive, cortical patterns. To address this issue, 65 patients with ALS and 33 age-, gender- and education-matched healthy controls were tested on cognitive and behavioral deficits with the Edinburgh Cognitive and Behavioural ALS Screen (ECAS). Using functional magnetic resonance imaging (fMRI), cortical activity during social cognition and executive function tasks (theory of mind, verbal fluency, alternation) adapted from the ECAS was determined in a 3 Tesla scanner...
June 9, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28596251/hypothalamic-atrophy-is-related-to-body-mass-index-and-age-at-onset-in-amyotrophic-lateral-sclerosis
#15
Martin Gorges, Pauline Vercruysse, Hans-Peter Müller, Hans-Jürgen Huppertz, Angela Rosenbohm, Gabriele Nagel, Patrick Weydt, Åsa Petersén, Albert C Ludolph, Jan Kassubek, Luc Dupuis
OBJECTIVE: Our objective was to study the hypothalamic volume in a cohort of patients with amyotrophic lateral sclerosis (ALS) including symptomatic and presymptomatic ALS mutation carriers. METHODS: High-resolution three-dimensional T1-weighted MRI datasets from 251 patients with sporadic ALS, 19 symptomatic and 32 presymptomatic ALS mutation carriers and 112 healthy controls (HC) were retrospectivally registered for manual delineation of the hypothalamus. The volume of the hypothalamus, in total or subdivided, was normalised to the intracranial volume and adjusted to age...
June 8, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28591490/region-specific-atrophy-of-precentral-gyrus-in-patients-with-amyotrophic-lateral-sclerosis
#16
Yuanyuan Qin, Shun Zhang, Rifeng Jiang, Fei Gao, Xiaoying Tang, Wenzhen Zhu
PURPOSE: To assess the region-specific atrophy of precentral gyrus (PrCG) and its correlation to clinical function score in amyotrophic lateral sclerosis (ALS). MATERIALS AND METHODS: Twenty-eight patients with sporadic ALS and 28 healthy controls underwent high-resolution 3D T1-BRAVO magnetic resonance imaging at 3T. The bilateral PrCG segmentations were automatically obtained from a validated segmentation pipeline based on diffeomorphic multi-atlas likelihood fusion...
June 7, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28591385/usefulness-of-diffusion-tensor-imaging-in-amyotrophic-lateral-sclerosis-potential-biomarker-and-association-with-the-cognitive-profile
#17
Marcelo Chaves, Mariela Bettini, Maria Cecilia Fernandez, Maria Jose Garcia Basalo, Juan Ignacio Rojas, Cristina Besada, Edgardo Cristiano, Angel Golimstok, Marcelo Rugiero
Methods: This was a case-control study conducted from December 1, 2012 to December 1, 2014. Clinical and demographic data were recorded. A neuropsychological test battery adapted to ALS patients was used. An MRI with DTI was performed in all patients and fractional anisotropy (FA) was analyzed in the white matter using the tract based spatial statistics program. Results: Twenty-four patients with ALS (15 females, mean age 66.9 + -2.3) and 13 healthy controls (four females, average age 66...
May 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28586096/spinal-cord-multi-parametric-magnetic-resonance-imaging-for-survival-prediction-in-amyotrophic-lateral-sclerosis
#18
G Querin, M M El Mendili, T Lenglet, S Delphine, V Marchand-Pauvert, H Benali, P-F Pradat
BACKGROUND AND PURPOSE: Assessing survival is a critical issue in patients with amyotrophic lateral sclerosis (ALS). Neuroimaging seems to be promising in the assessment of disease severity and several studies also suggest a strong relationship between spinal cord (SC) atrophy described by magnetic resonance imaging (MRI) and disease progression. The aim of the study was to determine the predictive added value of multimodal SC MRI on survival. METHODS: Forty-nine ALS patients were recruited and clinical data were collected...
August 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28575122/multimodal-assessment-of-white-matter-tracts-in-amyotrophic-lateral-sclerosis
#19
Florian Borsodi, Valeriu Culea, Christian Langkammer, Michael Khalil, Lukas Pirpamer, Stefan Quasthoff, Christian Enzinger, Reinhold Schmidt, Franz Fazekas, Stefan Ropele
Several quantitative magnetic resonance imaging (MRI) techniques have been proposed to investigate microstructural tissue changes in amyotrophic lateral sclerosis (ALS) including diffusion tensor imaging (DTI), magnetization transfer imaging, and R2* mapping. Here, in this study, we compared these techniques with regard to their capability for detecting ALS related white matter (WM) changes in the brain and their association with clinical findings. We examined 27 ALS patients and 35 age-matched healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28572001/quantitative-flair-mri-in-amyotrophic-lateral-sclerosis
#20
Jeremy Fabes, Lucy Matthews, Nicola Filippini, Kevin Talbot, Mark Jenkinson, Martin R Turner
RATIONALE AND OBJECTIVES: T2-weighted magnetic resonance imaging (MRI) hyperintensity assessed visually in the corticospinal tract (CST) lacks sensitivity for a diagnosis of amyotrophic lateral sclerosis (ALS). We sought to explore a quantitative approach to fluid-attenuated inversion recovery (FLAIR) MRI intensity across a range of ALS phenotypes. MATERIALS AND METHODS: Thirty-three classical ALS patients, 10 with a flail arm presentation, and six with primary lateral sclerosis underwent MRI at 3 Tesla...
May 29, 2017: Academic Radiology
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