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cerebral atrophy

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https://www.readbyqxmd.com/read/28737626/perinatal-chikungunya-virus-associated-encephalitis-leading-to-postnatal-onset-microcephaly-and-optic-atrophy
#1
Regina Ramos, Rafaela Viana, Alessandra Brainer-Lima, Telma Florêncio, Maria Durce Carvalho, Vanessa van Der Linden, Antonio Amorim, Maria Ângela Rocha, Fabíola Medeiros
Chikungunya virus is capable of affecting the nervous system of children and adults. We describe a case of sepsis and encephalitis triggered by this agent in a newborn whose mother developed symptoms of acute infection two days before delivery. Consequently, the infant had severe encephalitis that evolved with postnatal-onset microcephaly, bilateral optic atrophy, epilepsy and cerebral palsy.
July 21, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28736106/in-vivo-magnetic-resonance-approach-to-trimethyltin-induced-neurodegeneration-in-rats
#2
Ladislav Baciak, Zdenka Gasparova, Tibor Liptaj, Ivo Juranek
Trimethyltin (TMT) is commonly used to induce neurodegeneration in mice and rats; however, only scarce data of in vivo MR spectroscopy and imaging characterizing TMT neurotoxicity are available. Our aim was to assess brain metabolite changes and brain atrophy by in vivo MR in the rat model of neurodegeneration induced by TMT. Adult male Wistar rats exposed to TMT (8 mg/kg, i.p.) were used in the study. Proton MRS was applied on the dorsal hippocampus to reveal changes in neurochemical profile and MRI was used to assess the volume of the entire hippocampus, ventricles and whole brain...
July 20, 2017: Brain Research
https://www.readbyqxmd.com/read/28733853/cerebral-magnetic-resonance-findings-during-enzyme-replacement-therapy-in-mucopolysaccharidosis
#3
Yoshiko Matsubara, Osamu Miyazaki, Motomichi Kosuga, Torayuki Okuyama, Shunsuke Nosaka
BACKGROUND: Although enzyme replacement therapy (ERT) is an effective treatment for mucopolysaccharidosis (MPS) types I, II, IVA and VI, its effectiveness in children with central nervous system (CNS) disorders is said to be poor because the blood-brain barrier cannot be penetrated by ERT drugs. OBJECTIVE: To assess CNS involvement in mucopolysaccharidosis at the start of enzyme replacement therapy and to investigate the time course of ERT in the central nervous system...
July 21, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28733757/the-clinico-radiological-spectrum-of-dyke-davidoff-masson-syndrome-in-adults
#4
Zeynep Özözen Ayas, Kıyasettin Asil, Ruhsen Öcal
Dyke-Davidoff-Masson syndrome (DDMS) is characterized by cerebral hemiatrophy, seizure, contralateral hemiplegia/hemiparesis, and mental retardation. In this study, clinical and radiological investigations of seven patients who were diagnosed with DDMS as adult age were evaluated and discussed. Seven patients (four male, three female) were included. The mean age ± SD of the patients was 46 ± 21 years. Clinical presentation of six patients was epileptic seizure. One patient was presented with head trauma due to a fall...
July 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#5
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G Bönnemann, Richard J Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. RESULTS: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#6
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28709938/a-cross-sectional-comparison-of-brain-glucose-and-ketone-metabolism-in-cognitively-healthy-older-adults-mild-cognitive-impairment-and-early-alzheimer-s-disease
#7
E Croteau, C A Castellano, M Fortier, C Bocti, T Fulop, N Paquet, S C Cunnane
INTRODUCTION: Deteriorating brain glucose metabolism precedes the clinical onset of Alzheimer's disease (AD) and appears to contribute to its etiology. Ketone bodies, mainly β-hydroxybutyrate and acetoacetate, are the primary alternative brain fuel to glucose. Some reports suggest that brain ketone metabolism is unchanged in AD but, to our knowledge, no such data are available for MCI. OBJECTIVE: To compare brain energy metabolism (glucose and acetoacetate) and some brain morphological characteristics in cognitively healthy older adult controls (CTL), mild cognitive impairment (MCI) and early AD...
July 11, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28708110/cognitive-changes-in-the-spinocerebellar-ataxias-due-to-expanded-polyglutamine-tracts-a-survey-of-the-literature
#8
REVIEW
Evelyn Lindsay, Elsdon Storey
The dominantly-inherited ataxias characterised by expanded polyglutamine tracts-spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy (DRPLA) and, in part, SCA 8-have all been shown to result in various degrees of cognitive impairment. We survey the literature on the cognitive consequences of each disorder, attempting correlation with their published neuropathological, magnetic resonance imaging (MRI) and clinical features. We suggest several psychometric instruments for assessment of executive function, whose results are unlikely to be confounded by visual, articulatory or upper limb motor difficulties...
July 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28707717/an-autopsied-case-of-corticobasal-degeneration-presenting-with-frontotemporal-dementia-followed-by-myoclonus
#9
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida
A Japanese woman developed frontotemporal dementia (FTD)-like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side-dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28707338/evaluation-of-interthalamic-adhesion-size-as-an-indicator-of-brain-atrophy-in-dogs-with-and-without-cognitive-dysfunction
#10
Daji Noh, Sooyoung Choi, Hojung Choi, Youngwon Lee, Kija Lee
Interthalamic adhesion thickness has been previously described as a parameter for quantifying canine brain atrophy and hypothesized to correlate with brain height or ventricular size. However, studies testing this hypothesis are lacking. This retrospective cross-sectional study aimed to compare interthalamic adhesion thickness, interthalamic adhesion thickness/brain height ratio, and interthalamic adhesion thickness/brain height ratio/lateral ventricle to brain height ratio values in dogs with and without cognitive dysfunction...
July 13, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/28684457/pericortical-enhancement-on-delayed-postgadolinium-fluid-attenuated-inversion-recovery-images-in-normal-aging-mild-cognitive-impairment-and-alzheimer-disease
#11
W M Freeze, R S Schnerr, W M Palm, J F Jansen, H I Jacobs, E I Hoff, F R Verhey, W H Backes
BACKGROUND AND PURPOSE: Breakdown of BBB integrity occurs in dementia and may lead to neurodegeneration and cognitive decline. We assessed whether extravasation of gadolinium chelate could be visualized on delayed postcontrast FLAIR images in older individuals with and without cognitive impairment. MATERIALS AND METHODS: Seventy-four individuals participated in this study (15 with Alzheimer disease, 33 with mild cognitive impairment, and 26 with normal cognition)...
July 6, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28680303/an-autopsy-proven-child-onset-chronic-traumatic-encephalopathy
#12
Kyuho Lee, Seong-Ik Kim, Yujin Lee, Jae Kyung Won, Sung-Hye Park
Here we present an autopsy case of chronic traumatic encephalopathy (CTE) in a 36-year-old man. He had a history of febrile seizures at the age of four and was severely demented at age 10 when he was admitted to a mental hospital. He had suffered repetitive self-harm, such as frequent banging of the head on the wall in his hospital record, but he had no clear history between the ages of four and ten. Autopsy revealed global cerebral atrophy, including the basal ganglia, thalamus, hippocampus, amygdala, mammilary bodies and lateral geniculate bodies...
June 2017: Experimental Neurobiology
https://www.readbyqxmd.com/read/28680270/parents-assessments-of-disability-in-their-children-using-world-health-organization-international-classification-of-functioning-disability-and-health-child-and-youth-version-joined-body-functions-and-activity-codes-related-to-everyday-life
#13
Niels Ove Illum, Kim Oren Gradel
AIM: To help parents assess disability in their own children using World Health Organization (WHO) International Classification of Functioning, Disability and Health, Child and Youth Version (ICF-CY) code qualifier scoring and to assess the validity and reliability of the data sets obtained. METHOD: Parents of 162 children with spina bifida, spinal muscular atrophy, muscular disorders, cerebral palsy, visual impairment, hearing impairment, mental disability, or disability following brain tumours performed scoring for 26 body functions qualifiers (b codes) and activities and participation qualifiers (d codes)...
2017: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/28673480/association-of-descending-thoracic-aortic-plaque-with-brain-atrophy-and-white-matter-hyperintensities-the-framingham-heart-study
#14
Hugo J Aparicio, Rodica E Petrea, Joseph M Massaro, Warren J Manning, Noriko Oyama-Manabe, Alexa S Beiser, Carlos S Kase, Ralph B D'Agostino, Philip A Wolf, Ramachandran S Vasan, Charles DeCarli, Christopher J O'Donnell, Sudha Seshadri
BACKGROUND AND AIMS: Aortic atherosclerosis is an aggregate marker of vascular risk factor exposure and has been associated with intracranial atherosclerosis and stroke. We hypothesized that atherosclerosis of the descending aorta (DAo) could be a risk marker for brain aging and injury. METHODS: We evaluated 1527 participants (mean age 59.9 years, 53.5% women) in the Framingham Offspring cohort who underwent both aortic and brain MRI. Participants were free of clinical stroke, dementia, or other neurological illness at the time of axial MRI of the thoracic and abdominal DAo and subsequent brain MRI...
June 23, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28669331/patients-with-increased-non-ceruloplasmin-copper-appear-a-distinct-sub-group-of-alzheimer-s-disease-a-neuroimaging-study
#15
Rosanna Squitt, Ilaria Simonelli, Emanuele Cassetta, Domenico Lupoi, Mauro Rongioletti, Mariacarla Ventriglia, Mariacristina Siotto
BACKGROUND: Meta-analyses show that copper non-bound to ceruloplasmin (non-Cp Cu, also known as 'free' copper) in serum is higher in a percentage of Alzheimer's disease (AD) patients. Genetic heterogeneity in AD patients stratified on the basis of non-Cp Cu cut-off sustains the existence of a copper AD metabolic subtype. OBJECTIVE: In order to find evidence of the existence of a detectable metabolic subtype of AD associated to copper abnormalities, we explore the hypothesis of a neuroimaging pattern heterogeneity in an homogenous and well characterized AD population classified in two groups by the stratification of patients on the basis non-Cp Cu cut-off...
June 23, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28664031/large-scale-structural-alteration-of-brain-in-epileptic-children-with-scn1a-mutation
#16
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko
OBJECTIVE: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28650581/deficiency-of-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe-infantile-onset-leukoencephalopathy
#17
Benjamin E Theisen, Anastasia Rumyantseva, Julie S Cohen, Wendy A Alcaraz, Deepali N Shinde, Sha Tang, Siddarth Srivastava, Jonathan Pevsner, Aleksandra Trifunovic, Ali Fatemi
Pathogenic variants in the mitochondrial aminoacyl tRNA synthetases lead to deficiencies in mitochondrial protein synthesis and are associated with a broad range of clinical presentations usually with early onset and inherited in an autosomal recessive manner. Of the 19 mitochondrial aminoacyl tRNA synthetases, WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, was as of late the only one that had not been associated with disease in humans. A case of a family with pathogenic variants in WARS2 that caused mainly intellectual disability, speech impairment, aggressiveness, and athetosis was recently reported...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28642263/volumetric-analysis-from-a-harmonized-multisite-brain-mri-study-of-a-single-subject-with-multiple-sclerosis
#18
R T Shinohara, J Oh, G Nair, P A Calabresi, C Davatzikos, J Doshi, R G Henry, G Kim, K A Linn, N Papinutto, D Pelletier, D L Pham, D S Reich, W Rooney, S Roy, W Stern, S Tummala, F Yousuf, A Zhu, N L Sicotte, R Bakshi
BACKGROUND AND PURPOSE: MR imaging can be used to measure structural changes in the brains of individuals with multiple sclerosis and is essential for diagnosis, longitudinal monitoring, and therapy evaluation. The North American Imaging in Multiple Sclerosis Cooperative steering committee developed a uniform high-resolution 3T MR imaging protocol relevant to the quantification of cerebral lesions and atrophy and implemented it at 7 sites across the United States. To assess intersite variability in scan data, we imaged a volunteer with relapsing-remitting MS with a scan-rescan at each site...
June 22, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28639048/evaluating-anorexia-related-brain-atrophy-using-mp2rage-based-morphometry
#19
José Boto, Georgios Gkinis, Alexis Roche, Tobias Kober, Bénédicte Maréchal, Nadia Ortiz, Karl-Olof Lövblad, François Lazeyras, Maria Isabel Vargas
AIM: To evaluate brain atrophy in anorexic patients by automated cerebral segmentation with the magnetization-prepared 2 rapid acquisition gradient echo (MP2RAGE) MRI sequence. MATERIAL AND METHODS: Twenty patients (female; mean age, 27.9 years), presenting consecutively for brain MRI between August 2014-December 2016 with clinical suspicion of anorexia nervosa and BMI<18.5 kg/m(2) were included. Controls were ten healthy females (mean age, 26.5 years). Automated brain morphometry was performed based on MP2RAGE...
June 21, 2017: European Radiology
https://www.readbyqxmd.com/read/28629404/white-matter-lesions-characterise-brain-involvement-in-moderate-to-severe-chronic-obstructive-pulmonary-disease-but-cerebral-atrophy-does-not
#20
Catherine A Spilling, Paul W Jones, James W Dodd, Thomas R Barrick
BACKGROUND: Brain pathology is relatively unexplored in chronic obstructive pulmonary disease (COPD). This study is a comprehensive investigation of grey matter (GM) and white matter (WM) changes and how these relate to disease severity and cognitive function. METHODS: T1-weighted and fluid-attenuated inversion recovery images were acquired for 31 stable COPD patients (FEV1 52.1% pred., PaO2 10.1 kPa) and 24 age, gender-matched controls. T1-weighted images were segmented into GM, WM and cerebrospinal fluid (CSF) tissue classes using a semi-automated procedure optimised for use with this cohort...
June 19, 2017: BMC Pulmonary Medicine
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