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https://www.readbyqxmd.com/read/28100513/loss-of-ranbp2-in-motor-neurons-causes-the-disruption-of-nucleocytoplasmic-and-chemokine-signaling-and-proteostasis-of-hnrnph3-and-mmp28-and-the-development-of-amyotrophic-lateral-sclerosis-als-like-syndromes
#1
Kyoung-In Cho, Dosuk Yoon, Sunny Qiu, Zachary Danziger, Warren M Grill, William C Wetsel, Paulo A Ferreira
The pathogenic drivers of sporadic and familial motor neuron disease (MND), such ALS, are unknown. MND impair the Ran GTPase cycle, which controls nucleocytoplasmic transport, ribostasis and proteostasis; however, cause-effect mechanisms of Ran GTPase modulators in motoneuron pathobiology are heretofore elusive. The cytosolic and peripheral nucleoporin, Ranbp2, is a critical regulator of the Ran GTPase cycle and proteostasis of neurological disease-prone substrates, but the roles of Ranbp2 in motoneuron biology and disease remain unknown...
January 18, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28089419/risk-factors-for-respiratory-failure-of-motor-neuron-disease-in-a-multiracial-asian-population
#2
Xiao Deng, Ying Hao, Bin Xiao, Eng-King Tan, Yew-Long Lo
BACKGROUND: Motor neuron disease (MND) is a devastating degenerative disorder. Amyotrophic Lateral Sclerosis (ALS) is the most common and severe form of MND. Respiratory failure arising from ventilator musculature atrophy is the most common cause of death for ALS patients. Exploring the factors correlated with respiratory failure can contribute to disease management. PURPOSE: To characterize the clinical features of MND and determine the factors that may affect respiratory failure of MND patients...
January 12, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28089114/genetic-epidemiology-of-motor-neuron-disease-associated-variants-in-the-scottish-population
#3
Holly A Black, Danielle J Leighton, Elaine M Cleary, Elaine Rose, Laura Stephenson, Shuna Colville, David Ross, Jon Warner, Mary Porteous, George H Gorrie, Robert Swingler, David Goldstein, Matthew B Harms, Peter Connick, Suvankar Pal, Timothy J Aitman, Siddharthan Chandran
Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants in TBK1 and NEK1 contribute to the burden of MND in the Scottish population. SOD1, TARDBP, OPTN, TBK1, and NEK1 were sequenced in 441 cases and 400 controls. In addition to 44 cases known to carry a C9orf72 hexanucleotide repeat expansion, we identified 31 cases and 2 controls that carried a loss-of-function or pathogenic variant...
December 21, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28072907/symptomatic-treatments-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#4
REVIEW
Louisa Ng, Fary Khan, Carolyn A Young, Mary Galea
BACKGROUND: Motor neuron disease (MND), which is also known as amyotrophic lateral sclerosis (ALS), causes a wide range of symptoms but the evidence base for the effectiveness of the symptomatic treatment therapies is limited. OBJECTIVES: To summarise the evidence from Cochrane Systematic Reviews of all symptomatic treatments for MND. METHODS: We searched the Cochrane Database of Systematic Reviews (CDSR) on 15 November 2016 for systematic reviews of symptomatic treatments for MND...
January 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28067943/gamma-aminobutyric-acid-gaba-modulators-for-amyotrophic-lateral-sclerosis-motor-neuron-disease
#5
REVIEW
Andrea Diana, Rita Pillai, Paolo Bongioanni, Aidan G O'Keeffe, Robert G Miller, Dan H Moore
BACKGROUND: Imbalance of gamma aminobutyric acid (GABA) and related modulators has been implicated as an important factor in the pathogenesis of amyotrophic lateral sclerosis (ALS), which is also known as motor neuron disease (MND). In this context, the role and mechanism of action of gabapentin and baclofen have been extensively investigated, although with conflicting results. This is the first systematic review to assess clinical trials of GABA modulators for the treatment of ALS. OBJECTIVES: To examine the efficacy of gabapentin, baclofen, or other GABA modulators in delaying the progression of ALS, and to evaluate adverse effects of these interventions...
January 9, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28054828/comparison-of-the-king-s-and-mitos-staging-systems-for-als
#6
Ton Fang, Ahmad Al Khleifat, Daniel R Stahl, Claudia Lazo La Torre, Caroline Murphy, Carolyn Young, Pamela J Shaw, P Nigel Leigh, Ammar Al-Chalabi
OBJECTIVE: To investigate and compare two ALS staging systems, King's clinical staging and Milano-Torino (MiToS) functional staging, using data from the LiCALS phase III clinical trial (EudraCT 2008-006891-31). METHODS: Disease stage was derived retrospectively for each system from the ALS Functional Rating Scale-Revised subscores using standard methods. The two staging methods were then compared for timing of stages using box plots, correspondence using chi-square tests, agreement using a linearly weighted kappa coefficient and concordance using Spearman's rank correlation...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28019106/geographic-distributions-of-motor-neuron-disease-mortality-and-well-water-use-in-u-s-counties
#7
Gary G Schwartz, Bradley C Rundquist, Isaac J Simon, Sami E Swartz
OBJECTIVE: We recently reported that U.S. mortality rates for motor neuron disease (MND) at the level of the state are associated with well water use. However, data at the state level may not accurately reflect data at the individual level. We therefore examined the association between MND mortality and well water use utilizing data from smaller geographic units that may better reflect exposure and disease at the individual level. METHODS: We used data on age-adjusted MND mortality rates at the level of the county, obtained from the CDC, and corresponding data on the prevalence of well water use, obtained from the U...
December 25, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28017247/clinical-characteristics-of-parkinsonism-in-frontotemporal-dementia-according-to-subtypes
#8
Hee Kyung Park, Kee Hyung Park, Bora Yoon, Jae-Hong Lee, Seong Hye Choi, Jee H Joung, Soo Jin Yoon, Byeong C Kim, Seung Hyun Kim, Eun-Joo Kim, Duk L Na, Kyung Won Park
BACKGROUND: We investigated the prevalence of parkinsonism in frontotemporal dementia (FTD) subtypes and the cognitive and behavioral differences between FTD with and without parkinsonism in a well-structured, prospective cohort. METHODS: One hundred and ninety-one FTD patients were enrolled and all patients underwent comprehensive neurological evaluations, neuropsychological tests, and the Unified Parkinson's Disease Rating Scale. RESULTS: The prevalence of parkinsonism was 38...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28017202/family-carers-experiences-of-receiving-the-news-of-a-diagnosis-of-motor-neurone-disease-a-national-survey
#9
Samar M Aoun, Lauren J Breen, David Oliver, Robert D Henderson, Robert Edis, Margaret O'Connor, Denise Howting, Rodney Harris, Carol Birks
Family carers have a central role in the care and support of people with MND and face the challenges of the disease from diagnosis to progression and the multiple losses of MND, but their support needs are often neglected. This study aimed to investigate the experiences of family carers at the time of diagnosis and their satisfaction with receiving the news. An anonymous postal survey was facilitated by all MND Associations in Australia (2014) and 190 family carers completed the questionnaire. The questions centred on the SPIKES protocol for communicating bad news...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28008946/htra2-suppresses-autoimmune-arthritis-and-regulates-activation-of-stat3
#10
Seung Hoon Lee, Young-Mee Moon, Hyeon-Beom Seo, Se-Young Kim, Eun-Kyung Kim, Junyeong Yi, Min-Kyung Nam, Jun-Ki Min, Sung-Hwan Park, Hyangshuk Rhim, Mi-La Cho
Rheumatoid arthritis (RA) is an autoimmune disease that is related to the induction of T helper (Th)17 cells, which secrete interleukin-17, and activation of the signal transducer and activator of transcription (STAT) 3. The expression of high-temperature requirement protein A (HtrA) 2, a serine protease involved in apoptosis, was decreased in RA patients nonresponsive to drug treatment of RA. The aim of this study was to determine whether overexpression of HtrA2 has a therapeutic effect on RA. Th17 differentiation, osteoclastogenesis, and lymphocyte activation are increased in motor neuron degeneration (mnd)2 mice, which lack HtrA2 activity because of a missense mutation (Ser276Cys) in the protease domain of HtrA2...
December 23, 2016: Scientific Reports
https://www.readbyqxmd.com/read/28005686/transcriptome-analyses-identify-key-cellular-factors-associated-with-hiv-1-associated-neuropathogenesis-in-infected-men
#11
Narasimhan J Venkatachari, Siddhartha Jain, Leah Walker, Shalmali Bivalkar-Mehla, Ansuman Chattopadhyay, Ziv Bar-Joseph, Charles Rinaldo, Ann Ragin, Eric Seaberg, Andrew Levine, James Becker, Eileen Martin, Ned Sacktor, Velpandi Ayyavoo
OBJECTIVE: HIV-1 viral proteins and host inflammatory factors have a direct role in neuronal toxicity in in vitro, however, the contribution of these factors in vivo in HIV-1 associated neurocognitive disorder (HAND) is not fully understood. We applied novel Systems Biology approaches to identify specific cellular and viral factors and their related pathways that are associated with different stages of HAND. DESIGN: A cross-sectional study of individuals enrolled in the Multicenter AIDS Cohort Study (MACS) including HIV-1 seronegative (N = 36) and HIV-1 seropositive individuals without neurocognitive symptoms (N = 16), or with mild neurocognitive disorder (MND) (N = 8) or HIV-associated dementia (HAD) (N = 16)...
December 21, 2016: AIDS
https://www.readbyqxmd.com/read/27995822/factors-to-consider-for-motor-neurone-disease-carer-intervention-research-a-narrative-literature-review
#12
Cathy Gluyas, Susan Mathers, Nicole Hennessy Anderson, Anna Ugalde
OBJECTIVE: The experience of caregiving in the context of motor neurone disease (MND) is extremely challenging. Over the past 15 years, quantitative and qualitative studies have delineated the psychosocial aspects of this experience, exploring its impact on caregivers' quality of life, rates of depression, distress, anxiety, and burden. Our paper aimed to provide an overview of the lived experience of MND caregivers, identifying the variables that can influence MND caregiver functioning that are relevant to the development of an intervention...
December 20, 2016: Palliative & Supportive Care
https://www.readbyqxmd.com/read/27992849/motor-neuron-disease-mortality-and-lifetime-petrol-lead-exposure-evidence-from-national-age-specific-and-state-level-age-standardized-death-rates-in-australia
#13
Sammy Zahran, Mark A S Laidlaw, Dominic B Rowe, Andrew S Ball, Howard W Mielke
BACKGROUND: The age standardized death rate from motor neuron disease (MND) for persons 40-84 years of age in the Australian States of New South Wales, Victoria, and Queensland increased dramatically from 1958 to 2013. Nationally, age-specific MND death rates also increased over this time period, but the rate of the rise varied considerably by age-group. The historic use of lead (Pb) additives in Australian petrol is a candidate explanation for these trends in MND mortality (International Classification of Disease (ICD)-10 G12...
December 18, 2016: Environmental Research
https://www.readbyqxmd.com/read/27992497/validation-of-the-international-hiv-dementia-scale-as-a-screening-tool-for-hiv-associated-neurocognitive-disorders-in-a-german-speaking-hiv-outpatient-clinic
#14
Victor Marin-Webb, Heiko Jessen, Ute Kopp, Arne B Jessen, Katrin Hahn
BACKGROUND: HIV-associated neurocognitive disorders (HAND) are widely present among people living with HIV. Especially its milder forms, asymptomatic neurocognitive impairment (ANI) and mild neurocognitive disorder (MND), remain highly prevalent worldwide. Diagnosing these conditions is subject to a time and resource consuming neuropsychological assessment. Selecting patients at a higher risk of cognitive impairment by using a simple but effective screening tool helps to organise access to further neuropsychological diagnosis...
2016: PloS One
https://www.readbyqxmd.com/read/27975196/economic-studies-in-motor-neurone-disease-a-systematic-methodological-review
#15
REVIEW
Alan Moore, Carolyn A Young, Dyfrig A Hughes
BACKGROUND: Motor neurone disease (MND) is a devastating condition which greatly diminishes patients' quality of life and limits life expectancy. Health technology appraisals of future interventions in MND need robust data on costs and utilities. Existing economic evaluations have been noted to be limited and fraught with challenges. OBJECTIVE: The aim of this study was to identify and critique methodological aspects of all published economic evaluations, cost studies, and utility studies in MND...
December 14, 2016: PharmacoEconomics
https://www.readbyqxmd.com/read/27965574/neurofilaments-in-csf-as-diagnostic-biomarkers-in-motor-neuron-disease-a-meta-analysis
#16
Dawei Li, Dongchao Shen, Hongfei Tai, Liying Cui
Objective: Neurofilaments in CSF are promising biomarkers which might help in the diagnosis of motor neuron disease (MND). We aim to assess the diagnostic value of neurofilaments in CSF for MND. Methods: Pubmed, Emabase, and Web of Science were searched for relevant studies systematically. Articles in English that evaluated the utility of neurofilaments in CSF in the diagnosis of MND were included. Data were extracted by two independent investigators. Diagnostic indexes for neurofilament light chain (NFL) and phosphorylated neurofilament heavy chain (pNFH) were calculated separately...
2016: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/27956443/motor-neuron-disease-biomarker-development-for-an-expanding-cerebral-syndrome
#17
Martin R Turner
Descriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged, despite the lack of overt cognitive impairment in the majority of patients. From the initial linkage of a small number of cases to mutations in SOD1, diverse cellular pathways have been implicated in pathogenesis...
December 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27928870/balance-evaluation-in-haemophilic-preadolescent-patients-using-nintendo-wii-balance-board-%C3%A2
#18
S Pérez-Alenda, J J Carrasco, M Aguilar-Rodríguez, L Martínez-Gómez, M Querol-Giner, R Cuesta-Barriuso, A Torres-Ortuño, F Querol
INTRODUCTION: Alterations in the musculoskeletal system, especially in the lower limbs, limit physical activity and affect balance and walking. Postural impairments in haemophilic preteens could increase the risk of bleeding events and deteriorate the physical condition, promoting the progression of haemophilic arthropathy. AIM: This study aims to evaluate static postural balance in haemophilic children, assessed by means of the Wii Balance Board(®) (WBB). METHODS: Nineteen children with haemophilia and 19 without haemophilia aged 9-10 years, have participated in this study...
December 8, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27892707/is-firstly-diagnosed-als-really-als-results-of-a-population-based-study-with-long-term-follow-up
#19
Elisabetta Pupillo, Elisa Bianchi, Marco Poloni, Ettore Beghi
OBJECTIVE: To revise the first diagnosis of amyotrophic lateral sclerosis (ALS) in patients from a well-defined population. METHODS: Patients diagnosed with ALS in the years 1998-2002 and resident of Lombardy Region, Northern Italy were followed until death or April 30 2016 to assess long-term survival. During follow-up, the caring neurologists were asked to confirm the first diagnosis. Revised diagnoses were classified as confirmed and unconfirmed motor neuron disease (MND) with further specification where available...
November 28, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27877154/immununochemical-markers-of-the-amyloid-cascade-in-the-hippocampus-in-motor-neuron-diseases
#20
Ulises Gómez-Pinedo, Rocio N Villar-Quiles, Lucia Galán, Jordi A Matías-Guiu, Maria S Benito-Martin, Antonio Guerrero-Sola, Teresa Moreno-Ramos, Jorge Matías-Guiu
BACKGROUND: Several findings suggest that the amyloid precursor protein (APP) and the amyloid cascade may play a role in motor neuron disease (MND). OBJECTIVE: Considering that dementia is one of the most frequent non-motor symptoms in amyotrophic lateral sclerosis (ALS) and that hippocampus is one of the brain areas with greater presence of amyloid-related changes in neurodegenerative diseases, our aim was to analyze the molecular markers of the amyloid cascade of APP in pathology studies of the hippocampus of autopsied patients with ALS and ALS-frontotemporal dementia (FTD)...
2016: Frontiers in Neurology
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