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https://www.readbyqxmd.com/read/28434153/machine-learning-xgboost-analysis-of-language-networks-to-classify-patients-with-epilepsy
#1
L Torlay, M Perrone-Bertolotti, E Thomas, M Baciu
Our goal was to apply a statistical approach to allow the identification of atypical language patterns and to differentiate patients with epilepsy from healthy subjects, based on their cerebral activity, as assessed by functional MRI (fMRI). Patients with focal epilepsy show reorganization or plasticity of brain networks involved in cognitive functions, inducing 'atypical' (compared to 'typical' in healthy people) brain profiles. Moreover, some of these patients suffer from drug-resistant epilepsy, and they undergo surgery to stop seizures...
April 22, 2017: Brain Informatics
https://www.readbyqxmd.com/read/28434104/mullerian-dysgenesis-a-critical-review-of-the-literature
#2
REVIEW
Souzana Choussein, Dimitrios Nasioudis, Dimitrios Schizas, Konstantinos P Economopoulos
PURPOSE: To present an update of the genetic, clinical, diagnostic, and therapeutic aspects of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Studies were considered eligible if they have evaluated patients with MRKH syndrome. Eligible articles were identified by a search of MEDLINE bibliographical database from 1950 to August 2016. A purely descriptive approach was adopted concerning all outcomes examined by the individual studies. RESULTS: MRKH syndrome is defined as congenital aplasia of the upper vagina and impairment of uterine development in normal 46XX females...
April 22, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28434076/%C3%AE-synuclein-nonhuman-primate-models-of-parkinson-s-disease
#3
REVIEW
David J Marmion, Jeffrey H Kordower
Proper understanding of the mechanism(s) by which α-synuclein misfolds and propagates may hold the key to unraveling the complex pathophysiology of Parkinson's disease. A more complete understanding of the disease itself, as well as establishing animal models that fully recapitulate pathological and functional disease progression, are needed to develop treatments that will delay, halt or reverse the disease course. Traditional neurotoxin-based animal models fail to mimic crucial aspects of Parkinson's and thus are not relevant for the study of neuroprotection and disease-modifying therapies...
April 22, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28434032/diabetes-bone-and-glucose-lowering-agents-basic-biology
#4
REVIEW
Beata Lecka-Czernik
Skeletal fragility often accompanies diabetes and does not appear to correlate with low bone mass or trauma severity in individuals with diabetes. Instead (and in contrast to those with osteoporotic bone disease), bone remodelling and bone turnover are compromised in both type 1 and type 2 diabetes, contributing to defective bone material quality. This review is one of a pair discussing the relationship between diabetes, bone and glucose-lowering agents; an accompanying review is provided in this issue of Diabetologia by Ann Schwartz (DOI: 10...
April 22, 2017: Diabetologia
https://www.readbyqxmd.com/read/28433997/argon-delays-initiation-of-liver-regeneration-after-partial-hepatectomy-in-rats
#5
Tom Florian Ulmer, Athanassious Fragoulis, Henriette Dohmeier, Andreas Kroh, Anne Andert, Christian Stoppe, Hamid Alizai, Christian Klink, Mark Coburn, Ulf Peter Neumann
BACKGROUND: The liver can heal up to restitutio ad integrum following damage resulting from various causes. Different studies have demonstrated the protective effect of argon on various cells and organs. To the best of our knowledge, the organ-protective effects of the noble gas argon on the liver have not yet been investigated, although argon appears to influence signal paths that are well-known mediators of liver regeneration. We hypothesized that argon inhalation prior to partial hepatectomy (70%) has a positive effect on the initiation of liver regeneration in rats...
April 22, 2017: European Surgical Research. Europäische Chirurgische Forschung. Recherches Chirurgicales Européennes
https://www.readbyqxmd.com/read/28433974/hypoactive-hypoalert-behaviour-and-thalamic-hypometabolism-due-to-intracranial-hypotension
#6
Seamus Kearney, Peter Flynn, Simon Hughes, Wendy Spence, Mark Owen McCarron
A 47-year-old man presented with a 9-year history of a hypoalert hypoactive behaviour syndrome, caused by the deep brain swelling variant of spontaneous intracranial hypotension. Along with apathy with retained cognition, he had stable ataxia, impaired upgaze and episodes of central apnoea. MRI brain showed a sagging brainstem, pointed ventricles and reduced angle between the vein of Galen and the straight sinus, but no meningeal enhancement or subdural collections. A dopamine transporter scan showed preganglionic dopamine receptor deficiency; a fluorodeoxy glucose positron emission tomography scan showed bilateral hypothalamic hypometabolism...
April 22, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28433745/hypoxia-augments-lps-induced-inflammation-and-triggers-high-altitude-cerebral-edema-in-mice
#7
Yanzhao Zhou, Xin Huang, Tong Zhao, Meng Qiao, Xingnan Zhao, Ming Zhao, Lun Xu, Yongqi Zhao, Liying Wu, Kuiwu Wu, Ruoli Chen, Ming Fan, Lingling Zhu
High altitude cerebral edema (HACE) is a life-threatening illness that develops during the rapid ascent to high altitudes, but its underlying mechanisms remain unclear. Growing evidence has implicated inflammation in the susceptibility to and development of brain edema. In the present study, we investigated the inflammatory response and its roles in HACE in mice following high altitude hypoxic injury. We report that acute hypobaric hypoxia induced a slight inflammatory response or brain edema within 24 h in mice...
April 19, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28433741/loss-of-the-neurodevelopmental-gene-zswim6-alters-striatal-morphology-and-motor-regulation
#8
David J Tischfield, Dave K Saraswat, Andrew Furash, Stephen C Fowler, Marc V Fuccillo, Stewart A Anderson
The zinc-finger SWIM domain-containing protein 6 (ZSWIM6) is a protein of unknown function that has been associated with schizophrenia and limited educational attainment by three independent genome-wide association studies. Additionally, a putatively causal point mutation in ZSWIM6 has been identified in several cases of acromelic frontonasal dysostosis with severe intellectual disability. Despite the growing number of studies implicating ZSWIM6 as an important regulator of brain development, its role in this process has never been examined...
April 19, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#9
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433653/self-awareness-and-the-medial-temporal-lobe-in-neurodegenerative-diseases
#10
REVIEW
Chantal Chavoix, Ricardo Insausti
Accurate self-awareness is essential for adapting one's behaviour to one's actual abilities, to avoid risky behaviour. Impaired self-awareness of deficits is common in neurodegenerative diseases. Numerous studies show an involvement of midline cortical areas in impaired self-awareness. Among the other brain regions implicated stand the medial temporal lobe (MTL) structures (i.e. hippocampus, amygdala, and temporopolar, entorhinal, perirhinal and posterior parahippocampal cortices). This review aims at evaluating the role of those structures in self-awareness in neurodegenerative diseases...
April 19, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28433644/supraspinal-respiratory-plasticity-following-acute-cervical-spinal-cord-injury
#11
Tatiana Bezdudnaya, Vitaliy Marchenko, Lyandysha V Zholudeva, Victoria M Spruance, Michael A Lane
Impaired breathing is a devastating result of high cervical spinal cord injuries (SCI) due to partial or full denervation of phrenic motoneurons, which innervate the diaphragm - a primary muscle of respiration. Consequently, people with cervical level injuries often become dependent on assisted ventilation and are susceptible to secondary complications. However, there is mounting evidence for limited spontaneous recovery of respiratory function following injury, demonstrating the neuroplastic potential of respiratory networks...
April 19, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28433559/the-kcnh2-ivs9-28a-g-mutation-causes-aberrant-isoform-expression-and-herg-trafficking-defect-in-cardiomyocytes-derived-from-patients-affected-by-long-qt-syndrome-type-2
#12
Manuela Mura, Ashish Mehta, Chrishan J Ramachandra, Rita Zappatore, Federica Pisano, Maria Chiara Ciuffreda, Vincenzo Barbaccia, Lia Crotti, Peter J Schwartz, Winston Shim, Massimiliano Gnecchi
BACKGROUND: Long QT Syndrome type 2 (LQT2) is caused by mutations in the KCNH2 gene that encodes for the α-subunit (hERG) of the ion channel conducting the rapid delayed rectifier potassium current (IKr). We have previously identified a disease causing mutation (IVS9-28A/G) in the branch point of the splicing of KCNH2 intron 9. However, the mechanism through which this mutation causes the disease is unknown. METHODS AND RESULTS: We generated human induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) from fibroblasts of two IVS9-28A/G mutation carriers...
April 12, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28433548/effects-of-sex-and-education-on-cognitive-change-over-a-27-year-period-in-older-adults-the-rancho-bernardo-study
#13
Emilie T Reas, Gail A Laughlin, Jaclyn Bergstrom, Donna Kritz-Silverstein, Elizabeth Barrett-Connor, Linda K McEvoy
OBJECTIVE: This study investigated how cognitive function changes with age and whether rates of decline vary by sex or education in a large, homogenous longitudinal cohort characterized by high participation rates, long duration of follow-up, and minimal loss to follow-up. DESIGN/SETTING/PARTICIPANTS: Between 1988 and 2016, 2,225 community-dwelling participants of the Rancho Bernardo Study, aged 31 to 99 years at their initial cognitive assessment, completed neuropsychological testing approximately every 4 years, over a maximum 27-year follow-up...
March 16, 2017: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28433478/investigation-on-acute-effects-of-enzyme-replacement-therapy-and-influence-of-clinical-severity-on-physiological-variables-related-to-exercise-tolerance-in-patients-with-late-onset-pompe-disease
#14
Annalisa Sechi, Desy Salvadego, Alessandro Da Ponte, Nicole Bertin, Andrea Dardis, Silvia Cattarossi, Grazia Devigili, Federico Reccardini, Bruno Bembi, Bruno Grassi
Exercise intolerance is one of the clinical hallmarks of late-onset Pompe disease (LOPD). We studied the acute effects of ERT on the physiological variables associated with exercise tolerance in patients chronically ERT treated. Moreover, we assessed the influence of clinical severity on the investigated variables. The day before (B) and the day after (A) ERT injection, 11 LOPD patients performed on a cycle-ergometer an exercise tolerance test to voluntary exhaustion; VO2, HR, RPE, and GAA activity were determined in B and A...
March 10, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28433461/severely-impaired-adult-brain-neurogenesis-in-cyclin-d2-knock-out-mice-produces-very-limited-phenotypic-changes
#15
REVIEW
Robert K Filipkowski, Leszek Kaczmarek
The discovery of new neurons being produced in the brains of adult mammals (adult brain neurogenesis) began a quest to determine the function(s) of these cells. Major hypotheses in the field have assumed that these neurons play pivotal role, in particular, in learning and memory phenomena, mood control, and epileptogenesis. In our studies summarized herein, we used cyclin D2 knockout (KO) mice, as we have shown that cyclin D2 is the key factor in adult brain neurogenesis and thus its lack produces profound impairment of the process...
April 19, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28433439/cardiac-amyloidosis-shows-decreased-diastolic-function-as-assessed-by-echocardiographic-parameterized-diastolic-filling
#16
Katrin Salman, Peter A Cain, Benjamin T Fitzgerald, Martin G Sundqvist, Martin Ugander
Cardiac amyloidosis is a rare but serious condition with poor survival. One of the early findings by echocardiography is impaired diastolic function, even before the development of cardiac symptoms. Early diagnosis is important, permitting initiation of treatment aimed at improving survival. The parameterized diastolic filling (PDF) formalism entails describing the left ventricular filling pattern during early diastole using the mathematical equation for the motion of a damped harmonic oscillator. We hypothesized that echocardiographic PDF analysis could detect differences in diastolic function between patients with amyloidosis and controls...
April 19, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28433429/immunological-function-of-langerhans-cells-in-hiv-infection
#17
Takamitsu Matsuzawa, Youichi Ogawa, Kohji Moriishi, Shinji Shimada, Tatsuyoshi Kawamura
BACKGROUND: Langerhans cells (LCs) are one of the initial target cells for HIV following sexual exposure and they are productively infected by HIV. HIV-infected LCs migrate to the draining lymph nodes (dLNs) and transmit the virus to CD4(+) T cells, leading to the dissemination of HIV. In contrast with the role of LCs in initial HIV acquisition, little is known about the modulation of immune responses by HIV-infected LCs. OBJECTIVE: We aimed to elucidate the induction of HIV-specific CD8(+) T cells and regulatory T cells (Tregs), both of which play important roles in regulating the progression of HIV infection...
April 9, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28433263/memory-assessment-in-patients-with-temporal-lobe-epilepsy-to-predict-memory-impairment-after-surgery-a-systematic-review
#18
P Parra-Díaz, N García-Casares
INTRODUCTION: Given that surgical treatment of refractory mesial temporal lobe epilepsy may cause memory impairment, determining which patients are eligible for surgery is essential. However, there is little agreement on which presurgical memory assessment methods are best able to predict memory outcome after surgery and identify those patients with a greater risk of surgery-induced memory decline. OBJECTIVE: We conducted a systematic literature review to determine which presurgical memory assessment methods best predict memory outcome...
April 19, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28433262/primary-motor-cortex-alterations-in-alzheimer-disease-a-study-in-the-3xtg-ad-model
#19
E Orta-Salazar, A I Feria-Velasco, S Díaz-Cintra
INTRODUCTION: In humans and animal models, Alzheimer disease (AD) is characterised by accumulation of amyloid-β peptide (Aβ) and hyperphosphorylated tau protein, neuronal degeneration, and astrocytic gliosis, especially in vulnerable brain regions (hippocampus and cortex). These alterations are associated with cognitive impairment (loss of memory) and non-cognitive impairment (motor impairment). The purpose of this study was to identify cell changes (neurons and glial cells) and aggregation of Aβ and hyperphosphorylated tau protein in the primary motor cortex (M1) in 3xTg-AD mouse models at an intermediate stage of AD...
April 19, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/28433109/pathogenesis-of-wilson-disease
#20
Ivo Florin Scheiber, Radan Brůha, Petr Dušek
Wilson disease is an autosomal-recessive disorder originating from a genetic defect in the copper-transporting ATPase ATP7B that is required for biliary copper secretion and loading of ceruloplasmin with copper. Impaired ATP7B function in Wilson disease results in excessive accumulation of copper in liver, brain, and other tissues. Toxic copper deposits may induce oxidative stress, modify expression of genes, directly inhibit proteins, and impair mitochondrial function, leading to hepatic, neuropsychiatric, renal, musculoskeletal, and other symptoms...
2017: Handbook of Clinical Neurology
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