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https://www.readbyqxmd.com/read/28942698/neuroimaging-findings-using-transfontanellar-ultrasound-in-newborns-with-microcephaly-a-possible-association-with-congenital-zika-virus-infection
#1
Ana Sofia França Cruz Ximenes, Pedro Pires, Heron Werner, Patricia Mello Jungmann, Epitácio Leite Rolim Filho, Etiene Pedrosa Andrade, Roberto Souza Lemos, Alberto Borges Peixoto, Mohammad Zare Mehrjardi, Gabriele Tonni, Edward Araujo Júnior
OBJECTIVE: To determine the main neuroimaging findings of microcephalic newborns with possible Zika virus (ZIKV) intrauterine infection using transfontanellar cranial ultrasound. METHODS: We performed a retrospective study to describe the main neuroimaging in newborns with microcephaly and possible association with congenital ZIKV infection. Microcephaly was defined in the postnatal period using transfontanellar cranial examination which was performed using both two- (2D) and three-dimensional (3D) ultrasound...
September 24, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28940506/molecular-and-clinical-spectra-of-fbxl4-deficiency
#2
Ayman W El-Hattab, Hongzheng Dai, Mohammed Almannai, Julia Wang, Eissa A Faqeih, Ali Al Asmari, Mohammed A M Saleh, Mohammed A O Elamin, Majid Alfadhel, Fowzan S Alkuraya, Mais Hashem, Mazhor S Aldosary, Rawan Almass, Faten B Almutairi, Maysoon Alsagob, Mohammed Al-Owain, Shirin Al-Sharfa, Zuhair N Al-Hassnan, Zuhair Al Rahbeeni, Mohammed A Al-Muhaizea, Nawal Makhseed, Gretchen K Foskett, David A Stevenson, Natalia Gomez-Ospina, Chung Lee, Richard G Boles, Samantha A Schrier Vergano, Saskia B Wortmann, Wolfgang Sperl, Thomas Opladen, Georg F Hoffmann, Maja Hempel, Holger Prokisch, Bader Alhaddad, Johannes A Mayr, Wenyaw Chan, Namik Kaya, Lee-Jun C Wong
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a multisystem disease characterized by lactic acidemia, developmental delay, and hypotonia. Other features are feeding difficulties, growth failure, microcephaly, hyperammonemia, seizures, hypertrophic cardiomyopathy, elevated liver transaminases, recurrent infections, variable distinctive facial features, white matter abnormalities and cerebral atrophy found in neuroimaging, combined deficiencies of multiple electron transport complexes, and mtDNA depletion...
September 22, 2017: Human Mutation
https://www.readbyqxmd.com/read/28927557/cacna1a-related-early-onset-encephalopathy-with-myoclonic-epilepsy-a-case-report
#3
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Hiroyuki Yamada, Ayako Itakura, Toshinori Minato, Tetsuhiro Fukuyama, Yoshihiro Maegaki, Shinichi Hirose
We report a one-year-old boy with early-onset myoclonic epilepsy, developmental arrest, and hyperekplexia during early infancy. He presented with refractory myoclonic/tonic seizures since birth. Electroencephalography revealed multifocal spikes, and rhythmic activities that occurred simultaneous with aggravation of myoclonus accompanied by tonic upper limb elevation. Brain magnetic resonance imaging revealed progressive cerebral atrophy with periventricular signal change and thin corpus callosum at one year of age...
September 16, 2017: Brain & Development
https://www.readbyqxmd.com/read/28922154/atrial-fibrillation-is-independently-associated-with-cognitive-impairment-after-ischemic-stroke
#4
Russell Jude Chander, Levinia Lim, Sagarika Handa, Shaun Hiu, Angeline Choong, Xuling Lin, Rajinder Singh, Daniel Oh, Nagaendran Kandiah
BACKGROUND: While atrial fibrillation (AF) is an important risk factor for ischemic strokes and mild cognitive impairment (MCI) in Alzheimer's disease, the association between AF and post-stroke cognitive impairment (PSCI), and the factors mediating this association, is unclear. OBJECTIVE: To investigate the role of AF in PSCI, especially in relation to other markers of cerebrovascular disease. METHODS: 445 subjects with mild ischemic stroke without pre-stroke cognitive decline were assessed 3-6 months post-stroke for cognitive deficits...
September 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28917055/identification-of-genetic-disorders-causing-disruption-of-selenoprotein-biosynthesis
#5
Erik Schoenmakers, Krishna Chatterjee
Disorders of selenoprotein biosynthesis in humans, due to mutations in three genes (SECISBP2, TRU-TCA1-1, and SEPSECS) involved in the selenocysteine insertion pathway, have been described. Patients with SECISBP2 and TRU-TCA1-1 defects manifest a multisystem disorder with a biochemical signature of abnormal thyroid function tests due to the impaired activity of deiodinase selenoenzymes, myopathic features linked to SEPN1 deficiency and phenotypes resulting from increased levels of reactive oxygen species attributable to lack of antioxidant selenoenzymes...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28914133/age-of-donor-of-human-mesenchymal-stem-cells-affects-structural-and-functional-recovery-after-cell-therapy-following-ischaemic-stroke
#6
Susumu Yamaguchi, Nobutaka Horie, Katsuya Satoh, Takeshi Ishikawa, Tsuyoshi Mori, Hajime Maeda, Yuhtaka Fukuda, Shunsuke Ishizaka, Takeshi Hiu, Yoichi Morofuji, Tsuyoshi Izumo, Noriyuki Nishida, Takayuki Matsuo
Cell transplantation therapy offers great potential to improve impairments after stroke. However, the importance of donor age on therapeutic efficacy is unclear. We investigated the regenerative capacity of transplanted cells focusing on donor age (young vs. old) for ischaemic stroke. The quantities of human mesenchymal stem cell (hMSC) secreted brain-derived neurotrophic factor in vitro and of monocyte chemotactic protein-1 at day 7 in vivo were both significantly higher for young hMSC compared with old hMSC...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28912283/reaction-time-is-negatively-associated-with-corpus-callosum-area-in-the-early-stages-of-cadasil
#7
S Delorme, F De Guio, S Reyes, A Jabouley, H Chabriat, E Jouvent
BACKGROUND AND PURPOSE: Reaction time was recently recognized as a marker of subtle cognitive and behavioral alterations in the early clinical stages of CADASIL, a monogenic cerebral small-vessel disease. In unselected patients with CADASIL, brain atrophy and lacunes are the main imaging correlates of disease severity, but MR imaging correlates of reaction time in mildly affected patients are unknown. We hypothesized that reaction time is independently associated with the corpus callosum area in the early clinical stages of CADASIL...
September 14, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28906375/correlations-between-clinical-characteristics-and-neuroimaging-in-chinese-patients-with-subtypes-of-frontotemporal-lobe-degeneration
#8
Zhihong Shi, Shuai Liu, Ying Wang, Shuling Liu, Tong Han, Li Cai, Yuying Zhou, Shuo Gao, Yong Ji
The aim of the study was to obtain an overview of the clinical and neuroimaging features of Chinese patients with subtypes of frontotemporal lobe degeneration (FTLD).We evaluated the demographic features, clinical presentation, and lobe atrophy depicted by magnetic resonance imaging (MRI) in 133 patients with FTLD. Two positron emission tomography (PET) scans were performed at baseline: [C]Pittsburgh compound B PET to assess amyloid-β plaque load and [F]fluorodeoxyglucose (FDG) PET to assess glucose metabolism...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28902089/new-insights-in-vanishing-white-matter-disease-isolated-bilateral-optic-neuropathy-in-adult-onset-disease
#9
Sandra R Barros, Sónia C R Parreira, Ana F B Miranda, Ana M B Pereira, Nuno M P Campos
BACKGROUND: Vanishing white matter disease (VWMD) is a rare disease affecting cerebral white matter. The adult form is even rarer and manifests with motor symptoms, behavioral problems, and dementia. There is no treatment and progression is inevitable. We describe a case with atypical manifestations and an unusual course. METHODS: Description of a 42-year-old man with VWMD complaining of progressive visual loss in the right eye. RESULTS: The patient's visual acuity was 20/60, right eye, and 20/25, left eye, with pale optic nerves bilaterally...
September 7, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28901595/movement-disorders-in-genetically-confirmed-mitochondrial-disease-and-the-putative-role-of-the-cerebellum
#10
Sebastian R Schreglmann, Franz Riederer, Marian Galovic, Christos Ganos, Georg Kägi, Daniel Waldvogel, Zane Jaunmuktane, Andre Schaller, Ute Hidding, Ernst Krasemann, Lars Michels, Christian R Baumann, Kailash Bhatia, Hans H Jung
BACKGROUND: Mitochondrial disease can present as a movement disorder. Data on this entity's epidemiology, genetics, and underlying pathophysiology, however, is scarce. OBJECTIVE: The objective of this study was to describe the clinical, genetic, and volumetric imaging data from patients with mitochondrial disease who presented with movement disorders. METHODS: In this retrospective analysis of all genetically confirmed mitochondrial disease cases from three centers (n = 50), the prevalence and clinical presentation of video-documented movement disorders was assessed...
September 13, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28886955/successful-combined-targeting-of-b-and-plasma-cells-in-treatment-refractory-anti-nmdar-encephalitis
#11
Olafur Sveinsson, Mathias Granqvist, Yngve Forslin, Kaj Blennow, Henrik Zetterberg, Fredrik Piehl
We describe an extremely severe case of therapy refractory NMDA receptor encephalitis (NMDAe) in a 26-year-old woman. After rituximab, bilateral oophorectomy, repeated cycles of high dose methylprednisolone and plasma exchange, she received repeated cyclophosphamide, tocilizumab (interleukin-6 inhibitor) and finally bortezomib (plasma cell depleting drug) leading to remission after 204days in intensive care. Two years after disease onset her cognitive functions are still affected, but slowly improving and the cerebral atrophy has been partly reversed...
August 25, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28879204/dynamic-susceptibility-contrast-perfusion-magnetic-resonance-imaging-demonstrates-reduced-periventricular-cerebral-blood-flow-in-dogs-with-ventriculomegaly
#12
Martin J Schmidt, Malgorzata Kolecka, Robert Kirberger, Antje Hartmann
The nature of ventriculomegaly in dogs is still a matter of debate. Signs of increased intraventricular pressure and atrophy of the cerebral white matter have been found in dogs with ventriculomegaly, which would imply increased intraventricular pressure and, therefore, a pathological condition, i.e., to some extent. Reduced periventricular blood flow was found in people with high elevated intraventricular pressure. The aim of this study was to compare periventricular brain perfusion in dogs with and without ventriculomegaly using perfusion weighted-magnetic-resonance-imaging to clarify as to whether ventriculomegaly might be associated with an increase in intraventricular pressure...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28874119/automated-segmentation-of-cerebral-deep-gray-matter-from-mri-scans-effect-of-field-strength-on-sensitivity-and-reliability
#13
Renxin Chu, Shelley Hurwitz, Shahamat Tauhid, Rohit Bakshi
BACKGROUND: The cerebral subcortical deep gray matter nuclei (DGM) are a common, early, and clinically-relevant site of atrophy in multiple sclerosis (MS). Robust and reliable DGM segmentation could prove useful to evaluate putative neuroprotective MS therapies. The objective of the study was to compare the sensitivity and reliability of DGM volumes obtained from 1.5T vs. 3T MRI. METHODS: Fourteen patients with MS [age (mean, range) 50.2 (32.0-60.8) years, disease duration 18...
September 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28873855/usability-of-jaco-arm-interfaces-designed-with-a-user-centred-design-method
#14
Damien Sauzin, Nadine Vigouroux, Frédéric Vella
Utility, usability and acceptability of robotic arm for helping motor impairment people (quadriplegic, muscular dystrophy, Amyotrophic Lateral Sclerosis) must be improved. The robotic arm JACO of company ©Kinova is controlled by a joystick, sometimes unusable by patients. The IRIT laboratory has designed three types of virtual interfaces: one based on virtual keyboards and two others on Pie Menu concepts. These interfaces were designed by mean of a user centred design approach (UCDA) including brain storming, focus group, iterative prototyping and trials...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28870545/arterial-stiffness-and-cognitive-impairment
#15
REVIEW
Xiaoxuan Li, Peiyuan Lyu, Yanyan Ren, Jin An, Yanhong Dong
BACKGROUND: Arterial stiffness is one of the earliest indicators of changes in vascular wall structure and function and may be assessed using various indicators, such as pulse-wave velocity (PWV), the cardio-ankle vascular index (CAVI), the ankle-brachial index (ABI), pulse pressure (PP), the augmentation index (AI), flow-mediated dilation (FMD), carotid intima media thickness (IMT) and arterial stiffness index-β. Arterial stiffness is generally considered an independent predictor of cardiovascular and cerebrovascular diseases...
September 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28867033/-recommendations-for-imaging-neonatal-ischemic-stroke
#16
B Husson, C Durand, L Hertz-Pannier
Neuroimaging is critical for the diagnosis of neonatal arterial ischemic stroke (NAIS) and for prognosis estimation. The purpose of this work is to define guidelines of clinical neuroimaging for the diagnosis of NAIS, for the optimization of the imaging timing and for the assessment of the prognostic value of each imaging technique. A systematic search of electronic databases (Medline via Pubmed) for studies whose title and abstract were focused on NAIS has been conducted. One hundred and ten articles were selected and their results were analyzed by three Senior Practitioners of pediatric radiology using common methodology for guidelines elaboration within the group of experts gathered by Scientific Societies in the field...
September 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28866349/individual-differences-in-regional-cortical-volumes-across-the-life-span-are-associated-with-regional-optical-measures-of-arterial-elasticity
#17
Antonio M Chiarelli, Mark A Fletcher, Chin Hong Tan, Kathy A Low, Edward L Maclin, Benjamin Zimmerman, Tania Kong, Alexander Gorsuch, Gabriele Gratton, Monica Fabiani
Aging is often accompanied by changes in brain anatomy and cerebrovascular health. However, the specific relationship between declines in regional cortical volumes and loss of cerebral arterial elasticity is less clear, as only global or very localized estimates of cerebrovascular health have been available. Here we employed a novel tomographic optical method (pulse-DOT) to derive local estimates of cerebral arterial elasticity and compared regional volumetric estimates (obtained with FreeSurfer) with optical arterial elasticity estimates from the same regions in 47 healthy adults (aged 18-75)...
September 1, 2017: NeuroImage
https://www.readbyqxmd.com/read/28865231/effect-of-feeding-with-bilberry-fruit-on-the-expression-pattern-of-%C3%AE-camkii-in-hippocampal-neurons-in-normal-and-diabetic-rats
#18
M Matysek, S Mozel, R Szalak, A Zacharko-Siembida, K Obszańska, M B Arciszewski
αCaMKII, widely occurring in the central nervous system, plays a significant role in cognitive processes. It is well known that diabetes is a risk factor that may trigger brain atrophy, cognitive dysfunction and finally lead to memory loss. Antioxidants richly present in bilberry fruits are believed to have significant effects on diabetes-related brain dysfunctions mainly due to their abilities to modulate neurotransmitter release that lead to reduction of the negative impact of free radicals on cognitive processes...
March 1, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28861335/diffusion-tensor-image-segmentation-of-the-cerebrum-provides-a-single-measure-of-cerebral-small-vessel-disease-severity-related-to-cognitive-change
#19
Owen A Williams, Eva A Zeestraten, Philip Benjamin, Christian Lambert, Andrew J Lawrence, Andrew D Mackinnon, Robin G Morris, Hugh S Markus, Rebecca A Charlton, Thomas R Barrick
Cerebral small vessel disease (SVD) is the primary cause of vascular cognitive impairment and is associated with decline in executive function (EF) and information processing speed (IPS). Imaging biomarkers are needed that can monitor and identify individuals at risk of severe cognitive decline. Recently there has been interest in combining several magnetic resonance imaging (MRI) markers of SVD into a unitary score to describe disease severity. Here we apply a diffusion tensor image (DTI) segmentation technique (DSEG) to describe SVD related changes in a single unitary score across the whole cerebrum, to investigate its relationship with cognitive change over a three-year period...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28856575/muscle-bone-interactions-in-pediatric-bone-diseases
#20
REVIEW
Louis-Nicolas Veilleux, Frank Rauch
PURPOSE: Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. RECENT FINDINGS: When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur...
August 30, 2017: Current Osteoporosis Reports
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