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cerebral atrophy

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https://www.readbyqxmd.com/read/29353399/mri-findings-in-glutamic-acid-decarboxylase-associated-autoimmune-epilepsy
#1
Jason R Fredriksen, Carrie M Carr, Kelly K Koeller, Jared T Verdoorn, Avi Gadoth, Sean J Pittock, Amy L Kotsenas
PURPOSE: Glutamic acid decarboxylase (GAD65) has been implicated in a number of autoimmune-associated neurologic syndromes, including autoimmune epilepsy. This study categorizes the spectrum of MRI findings in patients with a clinical diagnosis of autoimmune epilepsy and elevated serum GAD65 autoantibodies. METHODS: An institutional database search identified patients with elevated serum GAD65 antibodies and a clinical diagnosis of autoimmune epilepsy who had undergone brain MRI...
January 20, 2018: Neuroradiology
https://www.readbyqxmd.com/read/29352662/distinct-progression-patterns-of-brain-disease-in-infantile-and-juvenile-gangliosidoses-volumetric-quantitative-mri-study
#2
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29349864/the-morphometric-co-atrophy-networking-of-schizophrenia-autistic-and-obsessive-spectrum-disorders
#3
Franco Cauda, Andrea Nani, Tommaso Costa, Sara Palermo, Karina Tatu, Jordi Manuello, Sergio Duca, Peter T Fox, Roberto Keller
By means of a novel methodology that can statistically derive patterns of co-alterations distribution from voxel-based morphological data, this study analyzes the patterns of brain alterations of three important psychiatric spectra-that is, schizophrenia spectrum disorder (SCZD), autistic spectrum disorder (ASD), and obsessive-compulsive spectrum disorder (OCSD). Our analysis provides five important results. First, in SCZD, ASD, and OCSD brain alterations do not distribute randomly but, rather, follow network-like patterns of co-alteration...
January 18, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/29346831/postoperative-reduction-of-intraventricular-hemorrhage-volume-single-versus-dual-catheter-drainage
#4
Syed Shahzad Hussain, Asif Raza, Saman Shahid, Hafiz Hamza Asif, Usman Ahmad, Naveed Ashraf
BACKGROUND/AIMS:  The use of single/dual external ventricular drains (EVD) for reducing intraventricular hemorrhage (IVH) is under investigation. A randomized controlled trial was conducted to compare postoperative reduction of IVH volume using single- and dual-catheter drainage in spontaneous IVH patients. We investigated factors that may influence an effective hematoma volume reduction by EVDs. MATERIALS AND METHODS:  The average cerebrospinal fluid (CSF) drainage volumes were analyzed...
January 18, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/29346650/persistence-of-zika-virus-after-birth-clinical-virological-neuroimaging-and-neuropathological-documentation-in-a-5-month-infant-with-congenital-zika-syndrome
#5
Leila Chimelli, Sheila Moura Pone, Elyzabeth Avvad-Portari, Zilton Farias Meira Vasconcelos, Andrea Araújo Zin, Daniela Prado Cunha, Nathalia Raposo Thompson, Maria Elisabeth Lopes Moreira, Clayton A Wiley, Marcos Vinicius da Silva Pone
During the Zika epidemic in Brazil, a baby was born at term with microcephaly and arthrogryposis. The mother had Zika symptoms at 10 weeks of gestation. At 17 weeks, ultrasound showed cerebral malformation and ventriculomegaly. At 24 weeks, the amniotic fluid contained ZIKV RNA and at birth, placenta and maternal blood were also positive using RT-qPCR. At birth the baby urine contained ZIKV RNA, whereas CSF at birth and urine at 17 days did not. Seizures started at 6 days. EEG was abnormal and CT scan showed cerebral atrophy, calcifications, lissencephaly, ventriculomegaly, and cerebellar hypoplasia...
January 13, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29345576/radiotracers-for-amyloid-imaging-in-neurodegenerative-disease-state-of-the-art-and-novel-concepts
#6
Angelina Cistaro, Pierpaolo Alongi, Federico Caobelli, Laura Cassalia
The pathological accumulation of various peptides is the common base of many neurodegenerative processes, likewise Alzheimer's disease (AD). AD is carachterized by amyloid deposits which may cause modification in neurotransmission, switching on inflammatory mechanisms, neuronal death and cerebral atrophy. Diagnosis in vivo is challenging as the criteria rely mainly on clinical manifestations, which become evident only in a late stage of the disease. Currently AD diagnosis can be definitively confirmed just by postmortem histopathologic examination but in vivo imaging may improve the clinician's ability to identify AD at the earliest stage...
January 16, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29344065/optociliary-shunt-vessels-role-in-diagnosis-and-treatment-of-atypical-pseudotumor-cerebri
#7
Frederico Castelo Moura, Ida Fortini
A 46-year-old man presented with severe visual loss and optic atrophy associated with optociliary shunt vessels. The diagnostic work-up revealed intracranial hypertension and cerebral venous sinus stenosis, with no evidence of previous thrombosis. In view of the severe visual dysfunction, both eyes were submitted to optic nerve sheath fenestration. After surgery, a regression of collateral vessels was observed in both eyes.
August 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29331877/cerebral-changes-and-disrupted-gray-matter-cortical-networks-in-asymptomatic-older-adults-at-risk-for-alzheimer-s-disease
#8
Jose L Cantero, Mercedes Atienza, Pascual Sanchez-Juan, Eloy Rodriguez-Rodriguez, Jose Luis Vazquez-Higuera, Ana Pozueta, Andrea Gonzalez-Suarez, Eduard Vilaplana, Jordi Pegueroles, Victor Montal, Rafael Blesa, Daniel Alcolea, Alberto Lleo, Juan Fortea
The diagnostic value of cerebrospinal fluid (CSF) biomarkers is well established in Alzheimer's disease, but our current knowledge about how abnormal CSF levels affect cerebral integrity, at local and network levels, is incomplete in asymptomatic older adults. Here, we have collected CSF samples and performed structural magnetic resonance imaging scans in cognitively normal elderly as part of a cross-sectional multicenter study (SIGNAL project). To identify group differences in cortical thickness, white matter volume, and properties of structural networks, participants were split into controls (N = 20), positive amyloid-β (Aβ1-42+) (N = 19), and positive phosphorylated tau (N = 18)...
December 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29331092/deep-grey-matter-volume-loss-drives-disability-worsening-in-multiple-sclerosis
#9
Arman Eshaghi, Ferran Prados, Wallace Brownlee, Daniel R Altmann, Carmen Tur, M Jorge Cardoso, Floriana De Angelis, Steven H van de Pavert, Niamh Cawley, Nicola De Stefano, M Laura Stromillo, Marco Battaglini, Serena Ruggieri, Claudio Gasperini, Massimo Filippi, Maria A Rocca, Alex Rovira, Jaume Sastre-Garriga, Hugo Vrenken, Cyra E Leurs, Joep Killestein, Lukas Pirpamer, Christian Enzinger, Sebastien Ourselin, Claudia A M Gandini Wheeler-Kingshott, Declan Chard, Alan J Thompson, Daniel C Alexander, Frederik Barkhof, Olga Ciccarelli
OBJECTIVE: Grey matter (GM) atrophy occurs in all multiple sclerosis (MS) phenotypes. We investigated whether there is a spatiotemporal pattern of GM atrophy that is associated with faster disability accumulation in MS. METHODS: We analysed 3,604 brain high-resolution T1-weighted MRI scans from 1,417 participants: 1,214 MS patients (253 clinically-isolated syndrome[CIS], 708 relapsing-remitting[RRMS], 128 secondary-progressive[SPMS], 125 primary-progressive[PPMS]), over an average follow-up of 2...
January 13, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29321969/the-two-year-progression-of-structural-and-functional-cerebral-mri-in-amyotrophic-lateral-sclerosis
#10
R A L Menke, M Proudfoot, K Talbot, M R Turner
MRI has emerged as one of several urgently needed candidate disease progression biomarkers for the neurodegenerative disorder amyotrophic lateral sclerosis (ALS), not least due to its unique ability to non-invasively assess structural and functional cerebral pathology. We sought to identify the extent of detectable change in cerebral MRI metrics over a more prolonged period. Analysis of multi-modal MRI data was performed in a cohort of sixteen patients (13 ALS and 3 with primary lateral sclerosis) in whom it was possible to acquire six-monthly images over two years...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29321336/neuroimaging-identifies-patients-most-likely-to-respond-to-a-restorative-stroke-therapy
#11
Jessica M Cassidy, George Tran, Erin B Quinlan, Steven C Cramer
BACKGROUND AND PURPOSE: Patient heterogeneity reduces statistical power in clinical trials of restorative therapies. Valid predictors of treatment responsiveness are needed, and several have been studied with a focus on corticospinal tract (CST) injury. We studied performance of 4 such measures for predicting behavioral gains in response to motor training therapy. METHODS: Patients with subacute-chronic hemiparetic stroke (n=47) received standardized arm motor therapy, and change in arm Fugl-Meyer score was calculated from baseline to 1 month post-therapy...
January 10, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29314393/global-cerebral-atrophy-detected-by-routine-imaging-relationship-with-age-hippocampal-atrophy-and-white-matter-hyperintensities
#12
Omar M Al-Janabi, Pradeep Panuganti, Erin L Abner, Ahmed A Bahrani, Ronan Murphy, Shoshana H Bardach, Allison Caban-Holt, Peter T Nelson, Brian T Gold, Charles D Smith, Donna M Wilcock, Gregory A Jicha
BACKGROUND AND PURPOSE: Interpreting the clinical significance of moderate-to-severe global cerebral atrophy (GCA) is a conundrum for many clinicians, who visually interpret brain imaging studies in routine clinical practice. GCA may be attributed to normal aging, Alzheimer's disease (AD), or cerebrovascular disease (CVD). Understanding the relationships of GCA with aging, AD, and CVD is important for accurate diagnosis and treatment decisions for cognitive complaints. METHODS: To elucidate the relative associations of age, moderate-to-severe white matter hyperintensities (WMHs), and moderate-to-severe medial temporal lobe atrophy (MTA), with moderate-to-severe GCA, we visually rated clinical brain imaging studies of 325 participants from a community based sample...
January 5, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/29304217/elevated-markers-of-inflammation-are-associated-with-longitudinal-changes-in-brain-function-in-older-adults
#13
Kristen N Warren, Lori L Beason-Held, Olga Carlson, Josephine M Egan, Yang An, Jimit Doshi, Christos Davatzikos, Luigi Ferrucci, Susan M Resnick
Background: Chronic inflammation has been linked to memory and other cognitive impairments, as well as Alzheimer's disease. Here, we investigate the association between inflammatory markers and changes in brain activity measured by regional cerebral blood flow (rCBF) to assess the relationship between inflammation and brain function in older individuals. Methods: Annual 15O water resting-state positron emission tomography (PET) scans collected over a 5-year period were assessed in 138 cognitively normal older participants (77 males; mean age at baseline = 71...
January 3, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29300972/a-recurrent-de-novo-missense-mutation-in-ubtf-causes-developmental-neuroregression
#14
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Fauni Harper, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Thomas Moss, Alexis L Franks, Chris Balak, Mark S LeDoux
UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates mRNA transcription by RNA polymerase 2. Herein, we describe 4 patients with very similar patterns of neuroregression due to recurrent de novo mutations in UBTF (GRCh37/hg19, NC_000017.10:g.42290219C>T, NM_014233.3:c.628G>A) resulting in the same amino acid change in both UBTF1 and UBTF2 (p.Glu210Lys [p.E210K]). Disease onset in our cohort was at 2.5 to 3 yrs and characterized by slow progression of global motor, cognitive and behavioral dysfunction...
January 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29299012/tremor-ataxia-syndrome-and-primary-ovarian-insufficiency-in-an-fmr1-premutation-carrier
#15
Wilmar Saldarriaga-Gil, Tatiana Rodriguez-Guerrero, Andres Fandiño-Losada, Julian Ramirez-Cheyne
Introduction: The FMR1 gene has four allelic variants according to the number of repeats of the CGG triplet. Premutation carriers with between 55 and 200 repeats are susceptible to developing pathologies such as tremor and ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) syndrome. Case description: The patient was a 53-year-old female farmer with severe tremor in the upper limbs at rest that worsens with movement, tremor in the jaw and tongue, and generalized cerebral atrophy...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29298295/synchrotron-microtomography-of-a-nothosaurus-marchicus-skull-informs-on-nothosaurian-physiology-and-neurosensory-adaptations-in-early-sauropterygia
#16
Dennis F A E Voeten, Tobias Reich, Ricardo Araújo, Torsten M Scheyer
Nothosaurs form a subclade of the secondarily marine Sauropterygia that was well represented in late Early to early Late Triassic marine ecosystems. Here we present and discuss the internal skull anatomy of the small piscivorous nothosaur Nothosaurus marchicus from coastal to shallow marine Lower Muschelkalk deposits (Anisian) of Winterswijk, The Netherlands, which represents the oldest sauropterygian endocast visualized to date. The cranial endocast is only partially encapsulated by ossified braincase elements...
2018: PloS One
https://www.readbyqxmd.com/read/29290337/kiaa1109-variants-are-associated-with-a-severe-disorder-of-brain-development-and-arthrogryposis
#17
Lucie Gueneau, Richard J Fish, Hanan E Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M van Hasselt, Michaël Wiederkehr, Caroline F Wright, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S Alkuraya, Alexandre Reymond
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29285552/focal-cortical-thinning-in-patients-with-stable-relapsing-remitting-multiple-sclerosis-cross-sectional-based-novel-estimation-of-gray-matter-kinetics
#18
Lior Orbach, Shay Menascu, Chen Hoffmann, Shmuel Miron, Anat Achiron
PURPOSE: The aim of our study is to identify radiological patterns of cortical gray matter atrophy (CGMA) that correlate with disease duration in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS: RRMS patients were randomly selected from the Sheba Multiple Sclerosis (MS) center computerized data registry based on stratification of disease duration up to 10 years. Patients were scanned by 3.0 T (Signa, GE) MRI, using a T1 weighted 3D high resolution, FSPGR, MS protocol...
February 2018: Neuroradiology
https://www.readbyqxmd.com/read/29279279/characterization-of-a-novel-variant-in-siblings-with-asparagine-synthetase-deficiency
#19
Stephanie J Sacharow, Elizabeth E Dudenhausen, Carrie L Lomelino, Lance Rodan, Christelle Moufawad El Achkar, Heather E Olson, Casie A Genetti, Pankaj B Agrawal, Robert McKenna, Michael S Kilberg
Asparagine Synthetase Deficiency (ASD) is a recently described inborn error of metabolism caused by bi-allelic pathogenic variants in the asparagine synthetase (ASNS) gene. ASD typically presents congenitally with microcephaly and severe, often medically refractory, epilepsy. Development is generally severely affected at birth. Tone is abnormal with axial hypotonia and progressive appendicular spasticity. Hyperekplexia has been reported. Neuroimaging typically demonstrates gyral simplification, abnormal myelination, and progressive cerebral atrophy...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29275387/syndrome-of-x-linked-intellectual-disability-epilepsy-progressive-brain-atrophy-and-large-head-associated-with-slc9a6-mutation
#20
Hansashree Padmanabha, Arushi Gahlot Saini, Jitendra Kumar Sahu, Pratibha Singhi
SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with intellectual disability, infantile-onset drug-refractory epilepsy, progressive brain atrophy and large head with a novel missense hemizygous mutation in exon 16 of the SLC9A6 gene on chromosome X. Presence of large head, early developmental regression and progressive cerebral atrophy expand the phenotypic spectrum of SLC9A6 mutations...
December 22, 2017: BMJ Case Reports
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