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https://www.readbyqxmd.com/read/28077719/suppressing-n-acetyl-l-aspartate-synthesis-prevents-loss-of-neurons-in-a-murine-model-of-canavan-leukodystrophy
#1
Jiho Sohn, Peter Bannerman, Fuzheng Guo, Travis Burns, Laird Miers, Christopher Croteau, Naveen K Singhal, Jennifer A McDonough, David Pleasure
: Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficiency. The lack of functional ASPA, an enzyme enriched in oligodendroglia that cleaves N-acetyl-l-aspartate (NAA) to acetate and l-aspartic acid, elevates brain NAA and causes "spongiform" vacuolation of superficial brain white matter and neighboring gray matter. In children with Canavan disease, neuroimaging shows early-onset dysmyelination and progressive brain atrophy. Neuron loss has been documented at autopsy in some cases...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28077334/the-neuroprotective-compound-p7c3-a20-promotes-neurogenesis-and-improves-cognitive-function-after-ischemic-stroke
#2
Zachary B Loris, Andrew A Pieper, W Dalton Dietrich
Ischemic stroke is a devastating condition with few therapeutic interventions available. The neuroprotective compound P7C3-A20 inhibits mature neuronal cell death while also increasing the net magnitude of postnatal neurogenesis in models of neurodegeneration and acute injury. P7C3 compounds enhance flux of nicotinamide adenine dinucleotide (NAD) in mammalian cells, a proposed therapeutic approach to treating cerebral ischemia. The effectiveness of P7C3-A20 treatment on chronic histopathological and behavioral outcomes and neurogenesis after ischemic stroke has not previously been established...
January 8, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28072381/magnetic-resonance-imaging-and-positron-emission-tomography-in-the-diagnosis-of-neurodegenerative-dementias
#3
REVIEW
A Del Sole, S Malaspina, Alberto Magenta Biasina
Neuroimaging, both with magnetic resonance imaging (MRI) and positron emission tomography (PET), has gained a pivotal role in the diagnosis of primary neurodegenerative diseases. These two techniques are used as biomarkers of both pathology and progression of Alzheimer's disease (AD) and to differentiate AD from other neurodegenerative diseases. MRI is able to identify structural changes including patterns of atrophy characterizing neurodegenerative diseases, and to distinguish these from other causes of cognitive impairment, e...
October 2016: Functional Neurology
https://www.readbyqxmd.com/read/28065824/variable-white-matter-atrophy-and-intellectual-development-in-a-family-with-x-linked-creatine-transporter-deficiency-despite-genotypic-homogeneity
#4
Nicole Heussinger, Marc Saake, Angelika Mennecke, Helmuth-Günther Dörr, Regina Trollmann
BACKGROUND: The X-linked creatine transporter deficiency (CRTD) caused by an SLC6A8 mutation represents the second most common cause of X-linked intellectual disability. The clinical phenotype ranges from mild to severe intellectual disability, epilepsy, short stature, poor language skills, and autism spectrum disorders. The objective of this study was to investigate phenotypic variability in the context of genotype, cerebral creatine concentration, and volumetric analysis in a family with CRTD...
October 17, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28056466/subacute-subclinical-brain-infarctions-after-transcatheter-aortic-valve-implantation-negatively-impact-cognitive-function-in-long-term-follow-up
#5
Alexander Ghanem, Jonas Dörner, Leonie Schulze-Hagen, Andreas Müller, Marius Wilsing, Jan-Malte Sinning, Julian Lütkens, Christian Frerker, Karl-Heinz Kuck, Ingo Gräff, Hans Schild, Nikos Werner, Eberhard Grube, Georg Nickenig
AIMS: To date every post-procedural cerebrovascular embolic event (CVE) is dreaded for its potential to accelerate cognitive decline after transcatheter aortic valve implantation (TAVI). This study differentiates the impact of acute (procedural) and post-acute cerebrovascular embolic events (CVEs) on cognitive performance. METHODS: Magnetic resonance imaging (MRI) before, early and late after TAVI was performed to quantify embolic burden. Quantification of diffusion- and T1-weighted lesions, as well as white-matter and total brain volumes, as well as cognitive function testing (MMSE) were assessed in 28 patients with a medium follow-up period of 34 months...
2017: PloS One
https://www.readbyqxmd.com/read/28054177/factors-associated-with-a-low-initial-cerebral-oxygen-saturation-value-in-patients-undergoing-cardiac-surgery
#6
Kensuke Kobayashi, Tadashi Kitamura, Satoshi Kohira, Shinzo Torii, Tetsuya Horai, Mitsuhiro Hirata, Toshiaki Mishima, Koichi Sughimoto, Hirotoki Ohkubo, Yusuke Irisawa, Takuya Matsushiro, Hidenori Hayashi, Yurie Miyata, Yuta Tsuchida, Naoki Ohtomo, Kagami Miyaji
Regional cerebral oximetry using near-infrared spectroscopy device, an INVOS 5100 C (Medtronic, Minneapolis, MN, USA), during cardiac surgery aims to avoid perioperative neurological impairment, especially during cardiopulmonary bypass. However, it is not uncommon to encounter critically low initial cerebral regional oxygen saturation or a low value unresponsive to intervention. Therefore, it is important to identify factors associated with low saturation value other than true cerebral hypoxia. We investigated the relationship between preoperative regional cerebral oxygen saturation and clinical variables during cardiac surgery...
January 4, 2017: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/28051070/severe-neurodegenerative-disease-in-brothers-with-homozygous-mutation-in-polr1a
#7
Bülent Kara, Çiğdem Köroğlu, Karita Peltonen, Ruchama C Steinberg, Hülya Maraş Genç, Maarit Hölttä-Vuori, Ayşe Güven, Kristiina Kanerva, Tuğba Kotil, Seyhun Solakoğlu, You Zhou, Vesa M Olkkonen, Elina Ikonen, Marikki Laiho, Aslıhan Tolun
In two brothers born to consanguineous parents, we identified an unusual neurological disease that manifested with ataxia, psychomotor retardation, cerebellar and cerebral atrophy, and leukodystrophy. Via linkage analysis and exome sequencing, we identified homozygous c.2801C>T (p.(Ser934Leu)) in POLR1A (encoding RPA194, largest subunit of RNA polymerase I) and c.511C>T (p.(Arg171Trp)) in OSBPL11 (encoding oxysterol-binding protein-like protein 11). Although in silico analysis, histopathologic evidence and functional verification indicated that both variants were deleterious, segregation with the patient phenotype established that the POLR1A defect underlies the disease, as a clinically unaffected sister also was homozygous for the OSBPL11 variant...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28049252/neurological-complications-resulting-from-non-oral-occupational-methanol-poisoning
#8
Ji Hyun Choi, Seung Keun Lee, Young Eun Gil, Jia Ryu, Kyunghee Jung-Choi, Hyunjoo Kim, Jun Young Choi, Sun Ah Park, Hyang Woon Lee, Ji Young Yun
Methanol poisoning results in neurological complications including visual disturbances, bilateral putaminal hemorrhagic necrosis, parkinsonism, cerebral edema, coma, or seizures. Almost all reported cases of methanol poisoning are caused by oral ingestion of methanol. However, recently there was an outbreak of methanol poisoning via non-oral exposure that resulted in severe neurological complications to a few workers at industrial sites in Korea. We present 3 patients who had severe neurological complications resulting from non-oral occupational methanol poisoning...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28041799/eif2b-related-multisystem-disorder-in-two-sisters-with-atypical-presentations
#9
Jin Sook Lee, Sangmoon Lee, Murim Choi, Byung Chan Lim, Jieun Choi, Ki Joong Kim, Jung-Eun Cheon, In-One Kim, Jong-Hee Chae
BACKGROUND: Vanishing white matter disease (VWM) is a chronic progressive leukoencephalopathy that is characterized by cerebellar ataxia and spasticity, together with cystic degeneration of the cerebral white matter as evidenced by brain magnetic resonance imaging (MRI). Here, we report two sisters with EIF2B2 variants, who presented with delayed development and failure to thrive before 1 year of age, developed cataracts, and showed diffuse leukoencephalopathy. CASE PRESENTATION: The index case had a history of hepatomegaly and intermittent vomiting after upper respiratory infection at 11 months of age...
July 18, 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28039490/impaired-fasting-blood-glucose-is-associated-to-cognitive-impairment-and-cerebral-atrophy-in-middle-aged-non-human-primates
#10
Fathia Djelti, Marc Dhenain, Jérémy Terrien, Jean-Luc Picq, Isabelle Hardy, Delphine Champeval, Martine Perret, Esther Schenker, Jacques Epelbaum, Fabienne Aujard
Age-associated cognitive impairment is a major health and social issue because of increasing aged population. Cognitive decline is not homogeneous in humans and the determinants leading to differences between subjects are not fully understood. In middle-aged healthy humans, fasting blood glucose levels in the upper normal range are associated with memory impairment and cerebral atrophy. Due to a close evolutional similarity to Man, non-human primates may be useful to investigate the relationships between glucose homeostasis, cognitive deficits and structural brain alterations...
December 28, 2016: Aging
https://www.readbyqxmd.com/read/28032299/new-mutations-and-genotype-phenotype-correlation-in-late-onset-pompe-patients
#11
Can Ebru Bekircan-Kurt, Hafize Nalan Güneş, F Gokcem Yildiz, Esen Saka, Ersin Tan, Sevim Erdem-Özdamar
Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two...
December 28, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28031997/cortical-asymmetry-in-parkinson-s-disease-early-susceptibility-of-the-left-hemisphere
#12
Daniel O Claassen, Katherine E McDonell, Manus Donahue, Shiv Rawal, Scott A Wylie, Joseph S Neimat, Hakmook Kang, Peter Hedera, David Zald, Bennett Landman, Benoit Dawant, Swati Rane
BACKGROUND AND PURPOSE: Clinically, Parkinson's disease (PD) presents with asymmetric motor symptoms. The left nigrostriatal system appears more susceptible to early degeneration than the right, and a left-lateralized pattern of early neuropathological changes is also described in several neurodegenerative conditions, including Alzheimer's disease, frontotemporal dementia, and Huntington's disease. In this study, we evaluated hemispheric differences in estimated rates of atrophy in a large, well-characterized cohort of PD patients...
December 2016: Brain and Behavior
https://www.readbyqxmd.com/read/28024912/early-diagnosis-and-outcome-prediction-of-neonatal-hypoxic-ischemic-encephalopathy-with-color-doppler-ultrasound
#13
B Guan, C Dai, Y Zhang, L Zhu, X He, N Wang, H Liu
PURPOSE: To describe the ultrasound presentation of the brain and cerebral hemodynamics in neonates with hypoxic-ischemic encephalopathy (HIE) by comparison with control subjects. MATERIAL AND METHODS: During June 2012 to April 2013, full term neonates who had clinical evidence of HIE were enrolled. Healthy newborns without HIE were used as a control group. Cerebral parenchyma, size of lateral ventricles and hemodynamic parameters of cerebral arteries were studied using two-dimensional duplex and color Doppler ultrasound...
December 23, 2016: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/28024876/neuronal-ceroid-lipofuscinosis-ncl-is-caused-by-the-entire-deletion-of-cln8-in-the-alpenl%C3%A3-ndische-dachsbracke-dog
#14
M Hirz, M Drögemüller, A Schänzer, V Jagannathan, E Dietschi, H H Goebel, W Hecht, S Laubner, M J Schmidt, F Steffen, M Hilbe, K Köhler, C Drögemüller, C Herden
Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische Dachsbracke was presented with neurological signs including disorientation, character changes including anxiety states and aggressiveness, sudden blindness and reduction of food intake...
December 19, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27999666/beclin-1-mediated-autophagy-may-be-involved-in-the-elderly-cognitive-and-affective-disorders-in-streptozotocin-induced-diabetic-mice
#15
Zhu-Fei Guan, Xiu-Ling Zhou, Xiao-Ming Zhang, Yu Zhang, Yan-Mei Wang, Qi-Lin Guo, Gang Ji, Guo-Feng Wu, Na-Na Wang, Hao Yang, Zhong-Yu Yu, Hou-Guang Zhou, Jing-Chun Guo, Ying-Chao Liu
BACKGROUND: Diabetes is the most common metabolic disease with many chronic complications, and cognitive disorders are one of the common complications in patients with diabetes. Previous studies have showed that autophagy played important roles in the progression of metabolic syndrome, diabetes and other diseases. So we investigated whether aged diabetic mice are prone to be associated with the cognitive and affective disorders and whether Beclin-1-mediated autophagy might be involved in thepahological process...
2016: Translational Neurodegeneration
https://www.readbyqxmd.com/read/27995735/midsagittal-corpus-callosum-area-and-conversion-to-multiple-sclerosis-after-clinically-isolated-syndrome-a-multicentre-australian-cohort-study
#16
Cara Odenthal, Steve Simpson, Justin Oughton, Ingrid van der Mei, Stephen Rose, Jurgen Fripp, Robyn Lucas, Bruce Taylor, Keith Dear, Anne-Louise Ponsonby, Alan Coulthard
INTRODUCTION: Patients presenting with clinically isolated syndrome (CIS) may proceed to clinically definite multiple sclerosis (CDMS). Midsagittal corpus callosum area (CCA) is a surrogate marker for callosal atrophy, and can be obtained from a standard MRI study. This study explores the relationship between CCA measured at CIS presentation (baseline) and at 5 years post presentation, with conversion from CIS to CDMS. The association between CCA and markers of disability progression is explored...
December 20, 2016: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/27995398/a-slc39a8-variant-causes-manganese-deficiency-and-glycosylation-and-mitochondrial-disorders
#17
Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Tony Roscioli, David R Thorburn, Kristina Prelog, Melanie Bahlo, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy...
December 19, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27984179/immunohistochemical-analysis-of-huntingtin-associated-protein-1in-adult-rat-spinal-cord-and-its-regional-relationship-with-androgen-receptor
#18
Md Nabiul Islam, Yukio Takeshita, Akie Yanai, Amami Imagawa, Mir Rubayet Jahan, Greggory Wroblewski, Joe Nemoto, Ryutaro Fujinaga, Koh Shinoda
Huntingtin-associated protein 1 (HAP1) is a neuronal interactor with causatively polyglutamine (polyQ)-expanded huntingtin in Huntington's disease and also associated with pathologically polyQ-expanded androgen receptor (AR) in spinobulbar muscular atrophy (SBMA), being considered as a protective factor against neurodegenerative apoptosis. In normal brains, it is abundantly expressed particularly in the limbic-hypothalamic regions that tend to be spared from neurodegeneration, whereas the areas with little HAP1 expression, including the striatum, thalamus, cerebral neocortex and cerebellum, are targets in several neurodegenerative diseases...
October 28, 2016: Neuroscience
https://www.readbyqxmd.com/read/27983999/wdr73-missense-mutation-causes-infantile-onset-intellectual-disability-and-cerebellar-hypoplasia-in-a-consanguineous-family
#19
Chen Jiang, Nan Gai, Yongyi Zou, Yu Zheng, Ruiyu Ma, Xianda Wei, Desheng Liang, Lingqian Wu
Galloway-Mowat syndrome (GMS) is a very rare autosomal-recessive disorder characterized by nephrotic syndrome associated with microcephaly, and various central nervous system abnormalities, mostly cerebral hypoplasia or cerebellar atrophy, intellectual disability and neural-migration defects. WDR73 is the only gene known to cause GMS, and has never been implicated in other disease. Here we present a Chinese consanguineous family with infantile onset intellectual disability and cerebellar hypoplasia but no microcephaly...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27977514/neural-correlates-of-brain-state-in-chronic-ischemia-and-stroke-combined-resting-state-electroencephalogram-and-transcranial-doppler-ultrasonographic-study
#20
Olga V Martynova, Galina V Portnova, Ksenya V Gladun
Clinical neurology is constantly searching for reliable indices of ischemic brain damage to prevent a possible development of stroke. We suggest that resting state electroencephalogram (rsEEG) with respect to other clinical data may provide important information about the severity of ischemia. We carried out correlation analysis of rsEEG, data of transcranial Doppler ultrasonography of head vessels, and clinical assessment scores collected from healthy volunteers and four groups of patients with mild chronic microvascular ischemia (CMI-1), moderate CMI (CMI-2), severe atrophy of the cerebral hemisphere, ischemic stroke in the left middle cerebral artery stroke, and ischemic stroke in the right middle cerebral artery stroke...
December 13, 2016: Neuroreport
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