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White matter AND disorders

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https://www.readbyqxmd.com/read/29150899/p-arg69trp-in-rnaseh2c-is-a-founder-variant-in-three-indian-families-with-aicardi-gouti%C3%A3-res-syndrome
#1
Malavika Hebbar, Anil Kanthi, Aroor Shrikiran, Snehal Patil, Mamta Muranjan, Febi Francis, Vishnu Bhat B, Katta M Girisha, Anju Shukla
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we report three Indian families with variant, c...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#2
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29148122/altered-frontal-interhemispheric-and-fronto-limbic-structural-connectivity-in-unmedicated-adults-with-obsessive-compulsive-disorder
#3
Xiaofu He, Emily Steinberg, Mihaela Stefan, Martine Fontaine, H Blair Simpson, Rachel Marsh
BACKGROUND: Previous diffusion tensor imaging (DTI) studies of obsessive-compulsive disorder (OCD) have primarily used voxel- or tract-based methods to assess white matter microstructure in medicated patients. This is the first probabilistic tractography study to assess the structural connectivity of all major white matter tracts in unmedicated adults with OCD without comorbid psychopathology. We hypothesized that OCD compared to healthy participants would show reduced integrity in frontal interhemispheric and fronto-limbic tracts...
November 16, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29147631/automated-whole-brain-tractography-affects-preoperative-surgical-decision-making
#4
Hesham Zakaria, Sameah Haider, Ian Lee
Surgery in and around eloquent brain structures poses a technical challenge when the goal of surgery is maximal safe resection. Magnetic resonance imaging (MRI) has revolutionized the diagnosis and treatment of neurological disorders, but tractography still remains limited in terms of utility because of the requisite manual labor and time required combined with the high risk of bias and inaccuracy. Automated whole brain tractography (AWBT) has simplified this workflow, overcoming historical barriers, and allowing for integration into modern neuronavigation...
September 6, 2017: Curēus
https://www.readbyqxmd.com/read/29146215/-acute-methotrexate-related-neurotoxicity-and-pseudo-stroke-syndrome
#5
V Deneux, N Leboucq, L Saumet, S Haouy, T Akbaraly, N Sirvent
Treatment of acute lymphoblastic leukemia requires high-dose systemic and/or intrathecal methotrexate to prevent and/or treat central nervous system disorders. Acute neurotoxicity of methotrexate, of unknown etiopathogenesis, is characterized by the polymorphism of clinical manifestations, responsible for a potentially harmful diagnostic delay in these immunosuppressed patients. We describe five episodes of transient acute leukoencephalopathy mimicking a stroke, reported in the literature as "pseudo-stroke syndrome"...
November 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29143870/head-to-head-comparison-of-18-f-av-1451-and-18-f-thk5351-for-tau-imaging-in-alzheimer-s-disease-and-frontotemporal-dementia
#6
Young Kyoung Jang, Chul Hyoung Lyoo, Seongbeom Park, Seung Jun Oh, Hanna Cho, Minyoung Oh, Young Hoon Ryu, Jae Yong Choi, Gil D Rabinovici, Hee Jin Kim, Seung Hwan Moon, Hyemin Jang, Jin San Lee, William J Jagust, Duk L Na, Jae Seung Kim, Sang Won Seo
PURPOSE: Tau accumulation is a core pathologic change in various neurodegenerative diseases including Alzheimer's disease and frontotemporal lobar degeneration-tau. Recently, tau positron emission tomography tracers such as [(18)F] AV-1451 and [(18)F] THK5351 have been developed to detect tau deposition in vivo. In the present study, we performed a head to head comparison of these two tracers in Alzheimer's disease and frontotemporal dementia cases and aimed to investigate which tracers are better suited to image tau in these disorders...
November 16, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/29143717/white-matter-abnormalities-in-22q11-2-deletion-syndrome-patients-showing-cognitive-decline
#7
Jasper Olivier Nuninga, Marc Marijn Bohlken, Sanne Koops, Ania M Fiksinski, René C W Mandl, Elemi J Breetvelt, Sasja N Duijff, René S Kahn, Iris E C Sommer, Jacob A S Vorstman
BACKGROUND: Decline in cognitive functioning precedes the first psychotic episode in the course of schizophrenia and is considered a hallmark symptom of the disorder. Given the low incidence of schizophrenia, it remains a challenge to investigate whether cognitive decline coincides with disease-related changes in brain structure, such as white matter abnormalities. The 22q11.2 deletion syndrome (22q11DS) is an appealing model in this context, as 25% of patients develop psychosis. Furthermore, we recently showed that cognitive decline also precedes the onset of psychosis in individuals with 22q11DS...
November 16, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29141828/alternative-diagnoses-in-patients-referred-to-specialized-centers-for-suspected-ms
#8
B I Yamout, S J Khoury, N Ayyoubi, H Doumiati, M Fakhreddine, S F Ahmed, H Tamim, J Y Al-Hashel, R Behbehani, R Alroughani
OBJECTIVES: The aim of this study is to explore the frequency, type, and predictors of alternative diagnoses among patients referred with a recent diagnosis of multiple sclerosis (MS) to two specialized MS centers in the Middle East. METHODS: This is a retrospective review of a prospectively followed cohort of MS patients at 2 University specialized MS centers. All patients referred for MS were included. The final diagnosis was recorded and demographic, clinical, laboratory, electrophysiological and radiological variables were collected...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141815/cognitive-impairment-in-neuromyelitis-optica-spectrum-disorders-what-do-we-know
#9
REVIEW
M B Eizaguirre, R Alonso, S Vanotti, O Garcea
The aim of this study is to make a descriptive review of the bibliography available on cognitive dysfunction in patients with neuromyelitis optica spectrum disorders (NMOSD). We selected fifteen studies that quantitatively assess the relationship between NMOSD and one or more cognitive variables. Results showed that patients with NMOSD had a decrease in cognitive functions. Cognitive dysfunctions were found in 35-67% of patients with NMOSD, specifically in the attention, memory and information processing speed...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29141024/quantifying-indices-of-short-and-long-range-white-matter-connectivity-at-each-cortical-vertex
#10
Maria Carmela Padula, Marie Schaer, Elisa Scariati, A Kadir Mutlu, Daniela Zöller, Maude Schneider, Stephan Eliez
Several neurodevelopmental diseases are characterized by impairments in cortical morphology along with altered white matter connectivity. However, the relationship between these two measures is not yet clear. In this study, we propose a novel methodology to compute and display metrics of white matter connectivity at each cortical point. After co-registering the extremities of the tractography streamlines with the cortical surface, we computed two measures of connectivity at each cortical vertex: the mean tracts' length, and the proportion of short- and long-range connections...
2017: PloS One
https://www.readbyqxmd.com/read/29136088/abcd1-dysfunction-alters-white-matter-microvascular-perfusion
#11
Arne Lauer, Xiao Da, Mikkel Bo Hansen, Gregoire Boulouis, Yangming Ou, Xuezhu Cai, Afonso Liberato Celso Pedrotti, Jayashree Kalpathy-Cramer, Paul Caruso, Douglas L Hayden, Natalia Rost, Kim Mouridsen, Florian S Eichler, Bruce Rosen, Patricia L Musolino
Cerebral X-linked adrenoleukodystrophy is a devastating neurodegenerative disorder caused by mutations in the ABCD1 gene, which lead to a rapidly progressive cerebral inflammatory demyelination in up to 60% of affected males. Selective brain endothelial dysfunction and increased permeability of the blood-brain barrier suggest that white matter microvascular dysfunction contributes to the conversion to cerebral disease. Applying a vascular model to conventional dynamic susceptibility contrast magnetic resonance perfusion imaging, we demonstrate that lack of ABCD1 function causes increased capillary flow heterogeneity in asymptomatic hemizygotes predominantly in the white matter regions and developmental stages with the highest probability for conversion to cerebral disease...
November 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29136024/severe-oxidative-stress-in-an-acute-inflammatory-demyelinating-model-in-the-rhesus-monkey
#12
Jordon Dunham, Reinofke van de Vis, Jan Bauer, Jacqueline Wubben, Nikki van Driel, Jon D Laman, Bert A 't Hart, Yolanda S Kap
Oxidative stress is increasingly implicated as a co-factor of tissue injury in inflammatory/demyelinating disorders of the central nervous system (CNS), such as multiple sclerosis (MS). While rodent experimental autoimmune encephalomyelitis (EAE) models diverge from human demyelinating disorders with respect to limited oxidative injury, we observed that in a non-human primate (NHP) model for MS, namely EAE in the common marmoset, key pathological features of the disease were recapitulated, including oxidative tissue injury...
2017: PloS One
https://www.readbyqxmd.com/read/29131982/multimodal-mri-quantification-of-the-common-neurostructural-bases-within-the-ftd-als-continuum
#13
Chiara Crespi, Alessandra Dodich, Stefano F Cappa, Nicola Canessa, Sandro Iannaccone, Massimo Corbo, Christian Lunetta, Andrea Falini, Chiara Cerami
The continuum hypothesis linking the behavioral variant of frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis (ALS) is supported by clinical, pathological, genetic, and neuroimaging evidence. In the present multimodal magnetic resonance study, we characterized the site and extent of shared neurostructural changes in gray and white matter in 20 bvFTD and 19 ALS patients without dementia. We found an overlap of macrostructural and microstructural damage in both patient groups compared with healthy controls, involving the right orbital and the bilateral anterior cingulate cortices, the corticospinal tract and corpus callosum...
September 28, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29129763/mammillothalamic-and-mammillotegmental-tracts-as-new-targets-for-dementia-and-epilepsy-treatment
#14
REVIEW
Naci Balak, Ece Balkuv, Ali Karadag, Recep Basaran, Huseyin Biceroglu, Buruç Erkan, Necmettin Tanriover
Very recently, neuromodulation through deep brain stimulation (DBS) has appeared as a new surgical procedure in the treatment of some types of dementia and epilepsy. The mammillothalamic and the mammillotegmental tracts are involved among the new targets. To our knowledge, a review article focused specifically on these mammillary body efferents is lacking in the medical literature. Their contribution to memory is, regrettably, often overlooked. There is evidence that mammillary bodies can contribute to memory independently from hippocampal formation, but the mechanism is not yet known...
November 9, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29129544/diffusion-imaging-study-of-the-corpus-callosum-in-bipolar-disorder
#15
Cecilia Prunas, Giuseppe Delvecchio, Cinzia Perlini, Marco Barillari, Mirella Ruggeri, A Carlo Altamura, Marcella Bellani, Paolo Brambilla
Structural and diffusion imaging studies have provided some evidence of abnormal organization of Corpus Callosum (CC) in Bipolar Disorder (BD). Therefore, by using Diffusion Weighted Imaging (DWI), which allows to build subtle prediction models of fiber integrity for white matter (WM) tracts, this study aims to further explore the microstructure integrity of CC in BD patients compared to matched healthy controls. Twenty-four chronic patients with BD and 35 healthy controls were included in the study. Circular regions of interest were placed, on diffusion images, in the left and right side of callosal regions (i...
November 3, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/29128929/freezing-of-gait-in-parkinson-s-disease-gray-and-white-matter-abnormalities
#16
Sara Pietracupa, Antonio Suppa, Neeraj Upadhyay, Costanza Giannì, Giovanni Grillea, Giorgio Leodori, Nicola Modugno, Francesca Di Biasio, Alessandro Zampogna, Claudio Colonnese, Alfredo Berardelli, Patrizia Pantano
Freezing of gait (FOG) is a disabling disorder that often affects Parkinson's disease (PD) patients in advanced stages of the disease. To study structural gray matter (GM) and white matter (WM) changes in PD patients with and without FOG, twenty-one PD patients with FOG (PD-FOG), 16 PD patients without FOG (PD-nFOG) and 19 healthy subjects (HS) underwent a standardized MRI protocol. For the gray matter evaluation, cortical volume (CV), cortical thickness (CTh), and surface area (SA) were analyzed using the FreeSurfer pipeline...
November 11, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29128446/disrupted-focal-white-matter-integrity-in-autism-spectrum-disorder-a-voxel-based-meta-analysis-of-diffusion-tensor-imaging-studies
#17
Xin Di, Azeezat Azeez, Xiaobo Li, Emad Haque, Bharat B Biswal
BACKGROUND: Autism spectrum disorder (ASD) is a mental disorder that has long been considered to result from brain underconnectivity. However, volumetric analysis of structural MRI data has failed to find consistent white matter alterations in patients with ASD. The present study aims to examine whether there are consistent focal white matter alterations as measured by diffusion tensor imaging (DTI) in individuals with ASD compared with typically developing (TD) individuals. METHOD: Coordinate-based meta-analysis was performed on 14 studies that reported fractional anisotropy (FA) alterations between individuals with ASD and TD individuals...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29127484/progress-in-developing-transgenic-monkey-model-for-huntington-s-disease
#18
REVIEW
Brooke R Snyder, Anthony W S Chan
Huntington's disease (HD) is a complex neurodegenerative disorder that has no cure. Although treatments can often be given to relieve symptoms, the neuropathology associated with HD cannot be stopped or reversed. HD is characterized by degeneration of the striatum and associated pathways that leads to impairment in motor and cognitive functions as well as psychiatric disturbances. Although cell and rodent models for HD exist, longitudinal study in a transgenic HD nonhuman primate (i.e., rhesus macaque; HD monkeys) shows high similarity in its progression with human patients...
November 10, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29126009/characteristics-and-origin-of-agates-from-p%C3%A5-%C3%A3-czki-g%C3%A3-rne-lower-silesia-poland-a-combined-microscopic-micro-raman-and-cathodoluminescence-study
#19
Magdalena Dumańska-Słowik, Tomasz Powolny, Magdalena Sikorska-Jaworowska, Adam Gaweł, Lucyna Kogut, Krzysztof Poloński
Agates from Płóczki Górne hosted by Permian basaltic rocks are predominantly made of length-fast chalcedony, and subordinately megaquartz and quartzine. Moganite occurs in traces mainly in transparent, outer, darker regions of white-grey coloured agates. Silica matrix of agates comprises a wide variety of solid inclusions represented by celadonite, plagioclases, hematite, goethite, barite, calcite, heulandite-clinoptyloite, nontronite-saponite, and Mn-dioxides (ramsdellite). Mineral phases are locally accompanied by black aggregations of carbonaceous matter, which gives a Raman signature of disordered carbon...
November 7, 2017: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
https://www.readbyqxmd.com/read/29123489/plasmapheresis-responsive-rapid-onset-dementia-with-predominantly-frontal-dysfunction-in-the-context-of-hashimoto-s-encephalopathy
#20
Dominique Endres, Magnus S Vry, Petra Dykierek, Anne N Riering, Eva Lüngen, Oliver Stich, Rick Dersch, Nils Venhoff, Daniel Erny, Irina Mader, Philipp T Meyer, Ludger Tebartz van Elst
Background: Hashimoto's encephalopathy (HE) is a rare immunological neuropsychiatric disorder characterized by increased antithyroid antibodies and mixed neurological and psychiatric symptoms. HE has been previously discussed as a differential diagnosis for rapid progressive dementia. However, most of these patients suffered from additional neurological symptoms, like ataxia or seizures. Case presentation: Here, we present the case of a 59-year-old female patient suffering rapid onset dementia with salient frontal executive dysfunction...
2017: Frontiers in Psychiatry
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