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cerebral atrophy

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https://www.readbyqxmd.com/read/28217759/frontal-gamma-aminobutyric-acid-concentrations-are-associated-with-cognitive-performance-in-older-adults
#1
Eric C Porges, Adam J Woods, Richard A E Edden, Nicolaas A J Puts, Ashley D Harris, Huaihou Chen, Amanda M Garcia, Talia R Seider, Damon G Lamb, John B Williamson, Ronald A Cohen
BACKGROUND: Gamma-aminobutyric acid (GABA), the brain's principal inhibitory neurotransmitter, has been associated with perceptual and attentional functioning. Recent application of magnetic resonance spectroscopy (MRS) provides in vivo evidence for decreasing GABA concentrations during adulthood. It is unclear, however, how age-related decrements in cerebral GABA concentrations contribute to cognitive decline, or whether previously reported declines in cerebral GABA concentrations persist during healthy aging...
January 2017: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
https://www.readbyqxmd.com/read/28208139/mri-based-neuroanatomical-predictors-of-dysphagia-dysarthria-and-aphasia-in-patients-with-first-acute-ischemic-stroke%C3%A2
#2
Heather L Flowers, Mohammed A AlHarbi, David Mikulis, Frank L Silver, Elizabeth Rochon, David Streiner, Rosemary Martino
BACKGROUND: Due to the high post-stroke frequency of dysphagia, dysarthria, and aphasia, we developed comprehensive neuroanatomical, clinical, and demographic models to predict their presence after acute ischemic stroke. METHODS: The sample included 160 randomly selected first-ever stroke patients with confirmed infarction on magnetic resonance imaging from 1 tertiary stroke center. We documented acute lesions within 12 neuroanatomical regions and their associated volumes...
February 16, 2017: Cerebrovascular Diseases Extra
https://www.readbyqxmd.com/read/28208063/white-matter-lesions-and-the-cholinergic-deficit-in-aging-and-mild-cognitive-impairment
#3
Nils Richter, Anne Michel, Oezguer A Onur, Lutz Kracht, Markus Dietlein, Marc Tittgemeyer, Bernd Neumaier, Gereon R Fink, Juraj Kukolja
In Alzheimer's disease (AD), white matter lesions (WMLs) are associated with an increased risk of progression from mild cognitive impairment (MCI) to dementia, while memory deficits have, at least in part, been linked to a cholinergic deficit. We investigated the relationship between WML load assessed with the Scheltens scale, cerebral acetylcholinesterase (AChE) activity measured with [(11)C]N-methyl-4-piperidyl acetate PET, and neuropsychological performance in 17 patients with MCI due to AD and 18 cognitively normal older participants...
January 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28205364/altered-neural-mechanisms-of-cognitive-control-in-patients-with-primary-progressive-multiple-sclerosis-an-effective-connectivity-study
#4
Ekaterina Dobryakova, Maria Assunta Rocca, Paola Valsasina, John DeLuca, Massimo Filippi
Primary progressive multiple sclerosis (PPMS) leads to physical and cognitive disability. Specifically, cognitive deficits in PPMS have been explained by both grey matter atrophy and white matter lesions. However, existing research still lacks in the understanding of how the brain of a patient with PPMS functions under cognitive control demands. Thus, the aim of the current study was to examine information integration in patients with PPMS using a search-based effective connectivity method. Fourteen patients with PPMS and 22 age- and gender-matched healthy controls (HC) performed the Stroop task, a cognitively demanding interference task that taxes neural resources required for cognitive control and response inhibition...
February 16, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#5
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28196825/marked-widespread-atrophy-of-the-cerebral-cortex-and-brainstem-in-sporadic-amyotrophic-lateral-sclerosis-in-a-totally-locked-in-state
#6
Yoko Warabi, Kentaro Hayashi, Masahiro Nagao, Toshio Shimizu
No abstract text is available yet for this article.
February 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28187749/identification-of-a-large-intronic-transposal-insertion-in-slc17a5-causing-sialic-acid-storage-disease
#7
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D M van Karnebeek, Maria Blomqvist
BACKGROUND: Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic acid transporter located in the lysosomal membrane. The most common form of sialic acid storage disease is the slowly progressive Salla disease, presenting with hypotonia, ataxia, epilepsy, nystagmus and findings of cerebral and cerebellar atrophy. Hypomyelination and corpus callosum hypoplasia are typical as well...
February 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28182114/evolution-of-cerebral-atrophy-in-a-patient-with-super-refractory-status-epilepticus-treated-with-barbiturate-coma
#8
Christopher R Newey, Pravin George, Premkumar Nattanmai, Christine Ahrens, Stephen Hantus, Aarti Sarwal
Introduction. Status epilepticus is associated with neuronal breakdown. Radiological sequelae of status epilepticus include diffusion weighted abnormalities and T2/FLAIR cortical hyperintensities corresponding to the epileptogenic cortex. However, progressive generalized cerebral atrophy from status epilepticus is underrecognized and may be related to neuronal death. We present here a case of diffuse cerebral atrophy that developed during the course of super refractory status epilepticus management despite prolonged barbiturate coma...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28168070/chronic-subdural-hematoma-associated-with-thrombocytopenia-in-a-patient-with-human-immunodeficiency-virus-infection-in-cameroon
#9
Clovis Nkoke, Engelbert Bain Luchuo, Denis Teuwafeu, Ines Nepetsoun, Cyrille Nkouonlack
Hematological abnormalities including thrombocytopenia are common in patients living with HIV infection. Patients with HIV infection related thrombocytopenia present generally with only minor bleeding problems. But cases of subdural hematoma are very rare. A 61-year-old female with a history of HIV infection of 9 years' duration presented with a 3-month history of generalized headache associated with visual blurring and anterograde amnesia. There was no history of trauma or fever. She was treated empirically for cerebral toxoplasmosis for 6 weeks without any improvement of the symptoms...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28159432/large-vessel-vasculopathy-in-children-with-sickle-cell-disease-a-magnetic-resonance-imaging-study-of-infarct-topography-and-focal-atrophy
#10
Kristin P Guilliams, Melanie E Fields, Dustin K Ragan, Yasheng Chen, Cihat Eldeniz, Monica L Hulbert, Michael M Binkley, James N Rhodes, Joshua S Shimony, Robert C McKinstry, Katie D Vo, Hongyu An, Jin-Moo Lee, Andria L Ford
BACKGROUND: Large-vessel vasculopathy (LVV) increases stroke risk in pediatric sickle cell disease beyond the baseline elevated stroke risk in this vulnerable population. The mechanisms underlying this added risk and its unique impact on the developing brain are not established. METHODS: We analyzed magnetic resonance imaging and angiography scans of 66 children with sickle cell disease and infarcts by infarct density heatmaps and Jacobian determinants, a metric utilized to delineate focal volume change, to investigate if infarct location, volume, frequency, and cerebral atrophy differed among hemispheres with and without LVV...
December 7, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28153851/transverse-myelitis-as-manifestation-of-celiac-disease-in-a-toddler
#11
Hilde Krom, Fleur Sprangers, René van den Berg, Marc Alexander Benninga, Angelika Kindermann
We present a 17-month-old girl with rapidly progressive unwillingness to sit, stand, play, and walk. Furthermore, she lacked appetite, vomited, lost weight, and had an iron deficiency. Physical examination revealed a cachectic, irritable girl with a distended abdomen, dystrophic legs with paraparesis, disturbed sensibility, and areflexia. An MRI scan revealed abnormal high signal intensity on T2-weighted images in the cord on the thoracic level, without cerebral abnormalities, indicating transverse myelitis (TM)...
February 2, 2017: Pediatrics
https://www.readbyqxmd.com/read/28150130/three-year-follow-up-of-high-dose-ubiquinol-supplementation-in-a-case-of-familial-multiple-system-atrophy-with-compound-heterozygous-coq2-mutations
#12
Jun Mitsui, Ken Koguchi, Toshimitsu Momose, Miwako Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin-Ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q10 levels in cerebrospinal fluid as well as in plasma. The patient was at the advanced stage of MSA, and the various scores of clinical rating scales remained stable without changes during the 3 years. The cerebral metabolic ratio of oxygen measured by (15)O2 PET, however, increased by approximately 30% after administration of ubiquinol, suggesting that ubiquinol can improve mitochondrial oxidative metabolism in the brain...
February 1, 2017: Cerebellum
https://www.readbyqxmd.com/read/28149095/cockayne-syndrome-with-intracranial-calcification-hypomyelination-and-cerebral-atrophy
#13
Joe James, James Jose
No abstract text is available yet for this article.
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28148925/a-novel-mutation-in-the-proteolytic-domain-of-lonp1-causes-atypical-codas-syndrome
#14
Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto, Kazuhiro Haginoya
Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is characterized by intellectual disability, cataracts, delayed tooth eruption, malformed auricles and skeletal abnormalities. We performed whole-exome sequencing on a 12-year-old Japanese male with severe intellectual disability, congenital bilateral cataracts, spasticity, hypotonia with motor regression and progressive cerebellar atrophy with hyperintensity of the cerebellar cortex on T2-weighted images...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28148276/evolution-of-structural-neuroimaging-biomarkers-in-a-series-of-adult-patients-with-niemann-pick-type-c-under-treatment
#15
Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud, Fanny Mochel
BACKGROUND: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy with miglustat is now used in almost all patients, its efficacy and the course of the disease are sometimes difficult to evaluate. Neuroimaging biomarkers could prove useful in this matter. We first performed a retrospective analysis of volumetric and diffusion tensor imaging (DTI) data on 13 adult NPC patients compared to 13 controls of similar age and sex...
February 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28140404/particulate-air-pollutants-apoe-alleles-and-their-contributions-to-cognitive-impairment-in-older-women-and-to-amyloidogenesis-in-experimental-models
#16
M Cacciottolo, X Wang, I Driscoll, N Woodward, A Saffari, J Reyes, M L Serre, W Vizuete, C Sioutas, T E Morgan, M Gatz, H C Chui, S A Shumaker, S M Resnick, M A Espeland, C E Finch, J C Chen
Exposure to particulate matter (PM) in the ambient air and its interactions with APOE alleles may contribute to the acceleration of brain aging and the pathogenesis of Alzheimer's disease (AD). Neurodegenerative effects of particulate air pollutants were examined in a US-wide cohort of older women from the Women's Health Initiative Memory Study (WHIMS) and in experimental mouse models. Residing in places with fine PM exceeding EPA standards increased the risks for global cognitive decline and all-cause dementia respectively by 81 and 92%, with stronger adverse effects in APOE ɛ4/4 carriers...
January 31, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28132692/a-recurrent-de-novo-variant-in-nacc1-causes-a-syndrome-characterized-by-infantile-epilepsy-cataracts-and-profound-developmental-delay
#17
Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David R Bearden, Asbjorg Stray-Pedersen, Oyvind L Busk, Nicholas Stong, Eriskay Liston, Ronald D Cohn, Fernando Scaglia, Jill A Rosenfeld, Jennifer Tarpinian, Cara M Skraban, Matthew A Deardorff, Jeremy N Friedman, Zeynep Coban Akdemir, Nicole Walley, Mohamad A Mikati, Peter G Kranz, Joan Jasien, Allyn McConkie-Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon Freedman, Deeksha Bali, Francisca Millan, Sherri Bale, Stanley F Nelson, Hane Lee, Naghmeh Dorrani, David B Goldstein, Rui Xiao, Yaping Yang, Jennifer E Posey, Julian A Martinez-Agosto, James R Lupski, Michael F Wangler, Vandana Shashi
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28130700/higher-fasting-plasma-glucose-is-associated-with-increased-cortical-thinning-over-12-years-the-path-through-life-study
#18
Marnie E Shaw, Julia Nettersheim, Perminder S Sachdev, Kaarin J Anstey, Nicolas Cherbuin
Recent evidence suggests that type 2 diabetes (T2D) is associated with accelerated brain ageing, consistent with the observation of increased risk of cognitive impairment and dementia in affected individuals. Even non-diabetic individuals with impaired fasting plasma glucose (IFG) levels have shown increased cerebral atrophy, compared to individuals with normal glucose levels. We tested whether longitudinal rates of age-related cortical thinning were associated with fasting plasma glucose levels in a large sample (n = 322) of early-old age individuals (60-66 years) who were scanned with magnetic resonance imaging (1...
January 27, 2017: Brain Topography
https://www.readbyqxmd.com/read/28120243/flow-metabolism-uncoupling-in-the-cervical-spinal-cord-of-als-patients
#19
Toru Yamashita, Tetsuhiro Hatakeyama, Kota Sato, Yusuke Fukui, Nozomi Hishikawa, Yasuyuki Ohta, Yoshihiro Nishiyama, Nobuyuki Kawai, Takashi Tamiya, Koji Abe
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease. In ALS, both glucose consumption and neuronal intensity reportedly decrease in the cerebral motor cortex when measured by positron emission tomography (PET). In this study, we evaluated cervical spinal glucose metabolism, blood flow, and neuronal intensity of 10 ALS patients with upper extremity (U/E) atrophy both with (18)F-2-fluoro-2-deoxy-D-glucose ((18)F-FDG) PET and (11)C-flumazenil ((11)C-FMZ) PET. On the ipsilateral side of C5 and T1 levels, (18)F-FDG uptake increased significantly (*p < 0...
January 24, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28120059/minipterional-craniotomy-for-treatment-of-unruptured-middle-cerebral-artery-aneurysms-a-single-center-comparative-analysis-with-standard-pterional-approach-as-regard-to-safety-and-efficacy-of-aneurysm-clipping-and-the-advantages-of-reconstruction
#20
Carmelo Lucio Sturiale, Giuseppe La Rocca, Alfredo Puca, Eduardo Fernandez, Massimiliano Visocchi, Enrico Marchese, Giovanni Sabatino, Alessio Albanese
Pterional craniotomy (PT) has long been the standard approach for the treatment of middle cerebral artery (MCA) aneurysms, even though it may cause temporalis muscle atrophy, facial nerve injury, and masticatory difficulties. Minipterional craniotomy (MPT) is an alternative approach that may provide the same surgical corridor, limiting the risk of postoperative esthetic and functional complications. From January 2011 to December 2014 we consecutively performed 68 craniotomies for surgical treatment of unruptured MCA aneuryms: 37 were standard PT and 31 were MPT...
2017: Acta Neurochirurgica. Supplement
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