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https://www.readbyqxmd.com/read/29128155/motor-neuron-disease-in-inherited-neurometabolic-disorders
#1
REVIEW
P Victor Sgobbi de Souza, T Bortholin, F George Monteiro Naylor, M Antônio Troccoli Chieia, W Bocca Vieira de Rezende Pinto, A Souza Bulle Oliveira
Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases...
November 8, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/29114369/bimelic-symmetric-hirayama-disease-spectrum-of-magnetic-resonance-imaging-findings-and-comparative-evaluation-with-classical-monomelic-amyotrophy-and-other-motor-neuron-disease
#2
Deb Kumar Boruah, Shantiranjan Sanyal, Arjun Prakash, Sashidhar Achar, Dhabal D Dhingani, Binod Sarma
Background: The aim of the study was to evaluate the magnetic resonance imaging (MRI) findings in bilateral symmetrical Hirayama disease and find out MRI features which are probably more indicative of symmetrical Hirayama disease, thereby help in differentiating this entity from other motor neuron disease (MND). Methods: This prospective as well as retrospective study was carried out from December 2010 to September 2016 in a tertiary care center of northeast India on 92 patients with Hirayama disease. Only 19 patients having bilateral symmetric upper limb involvement at the time of presentation were included in this study sample...
July 6, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/29089397/imaging-muscle-as-a-potential-biomarker-of-denervation-in-motor-neuron-disease
#3
Thomas M Jenkins, James J P Alix, Charlotte David, Eilish Pearson, D Ganesh Rao, Nigel Hoggard, Eoghan O'Brien, Kathleen Baster, Michael Bradburn, Julia Bigley, Christopher J McDermott, Iain D Wilkinson, Pamela J Shaw
OBJECTIVE: To assess clinical, electrophysiological and whole-body muscle MRI measurements of progression in patients with motor neuron disease (MND), as tools for future clinical trials, and to probe pathophysiological mechanisms in vivo. METHODS: A prospective, longitudinal, observational, clinicoelectrophysiological and radiological cohort study was performed. Twenty-nine patients with MND and 22 age-matched and gender-matched healthy controls were assessed with clinical measures, electrophysiological motor unit number index (MUNIX) and T2-weighted whole-body muscle MRI, at first clinical presentation and 4 months later...
October 31, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29052789/computational-analysis-of-pharyngeal-swallowing-mechanics-in-patients-with-motor-neuron-disease-a-pilot-investigation
#4
K L Garand, Ryan Schwertner, Amy Chen, William G Pearson
Swallowing impairment (dysphagia) is a common sequela in patients with motor neuron disease (MND). The purpose of this retrospective, observational pilot investigation was to characterize how pharyngeal swallowing mechanics are impacted in patients with MND using a comparison with healthy, non-dysphagic control group. Computational analysis of swallowing mechanics (CASM) was used to determine covariate biomechanics of pharyngeal swallowing from videofluoroscopic assessment in 15 patients with MND and 15 age- and sex-matched healthy controls...
October 20, 2017: Dysphagia
https://www.readbyqxmd.com/read/29037065/patterns-of-symptom-development-in-patients-with-motor-neuron-disease
#5
Renée Walhout, Esther Verstraete, Martijn P Van Den Heuvel, Jan H Veldink, Leonard H Van Den Berg
OBJECTIVE: To investigate whether symptom development in motor neuron disease (MND) is a random or organized process. METHODS: Six hundred patients with amyotrophic lateral sclerosis (ALS), upper motor neuron (UMN) or lower motor neuron (LMN) phenotypes were invited for a questionnaire concerning symptom development. A binomial test was used to examine distribution of symptoms from site of onset. Development of symptoms over time was evaluated by Kaplan-Meier analysis...
October 16, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/29034688/end-of-life-characteristics-and-palliative-care-provision-for-patients-with-motor-neuron-disease
#6
Hon Wai Benjamin Cheng, Oi Man Iman Chan, Chun Hung Red Chan, Wan Hung Chan, Koon Sim Fung, Kar Yin Wong
Motor neuron disease (MND) is a neurodegenerative disease and manifested as progressive decline in physical, respiratory, swallowing and communication function, and ultimately death. Traditional model of care was fragmented and did not match with multifacet needs of patients and carers. Furthermore, there could be lack of integrated care at end of life for patients with MND in most lower- and middle-income countries or in places with inadequate palliative care (PC) coverage. In view of this, a special workgroup for patients with MND, which includes neurologist, respiratory physician, rehabilitation specialist, and PC physician was formed in Hong Kong since year 2011...
January 1, 2017: American Journal of Hospice & Palliative Care
https://www.readbyqxmd.com/read/28991679/brainstem-cytokine-changes-in-healthy-ageing-and-motor-neurone-disease
#7
Anuradha Tennakoon, Viythia Katharesan, Ian P Johnson
Neuroinflammation is linked to healthy ageing, but its role in the development of age-related neurodegenerative diseases is unclear. In this pilot study we used a multiplex assay approach to compare 27 cytokines in 6 young adult and 6 ageing control brainstems with those in 6 MND brainstems. We report that healthy ageing is associated with significantly increased brainstem levels of IL-1β, IP-10 and MIP-1β which co-localise immunocytochemically to astrocytes. MND brainstem is also characterised by a general increase in both pro- and anti-cytokine levels, but fails to show the expected age-related increase in MIP-1β and IP-10...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28986394/man-with-advanced-mnd-loses-challenge-for-an-assisted-death
#8
Clare Dyer
No abstract text is available yet for this article.
October 6, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28980493/the-use-of-a-hand-held-ventilator-to-supplement-niv-for-patients-with-als-mnd-with-respiratory-insufficiency
#9
David Oliver, Sandip Banerjee, Lisa Vincent-Smith, Jane Kindred, Katharine Martin
No abstract text is available yet for this article.
October 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28971376/association-of-age-and-time-of-disease-with-hiv-associated-neurocognitive-disorders-a-japanese-nationwide-multicenter-study
#10
Ei Kinai, Kensuke Komatsu, Maiko Sakamoto, Toshibumi Taniguchi, Aya Nakao, Hidetoshi Igari, Kiyonori Takada, Aki Watanabe, Ai Takahashi-Nakazato, Misao Takano, Yoshimi Kikuchi, Shinichi Oka
There is no detailed information on the association between age, time of disease, and HIV-associated neurocognitive disorders (HAND). In this prospective study involving 17 medical facilities across Japan, we recruited HIV-infected patients to complete a 14-test neuropsychological battery that assess eight neurocognitive domains. HAND were diagnosed by the Frascati criteria. Of 1399 recruited patients, 728 were enrolled. The prevalence of HAND was 25.3% [13.5% asymptomatic neurocognitive impairment, 10.6% mild neurocognitive disorder (MND), and 1...
October 2, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28931454/the-experience-of-informal-caregivers-of-patients-with-motor-neurone-disease-a-thematic-synthesis
#11
Lucy Holkham, Andy Soundy
OBJECTIVE: Research is required in order to illustrate and detail the experiences of informal caregivers of patients with motor neurone disease (pwMND) to further advance the research base and to inform the development of future support structures and services. Due to the heterogeneous nature of caregiving for pwMND, one way in which this can be achieved is through a qualitative review. A qualitative thematic analysis of existing qualitative studies has not, to the best of the authors' knowledge, been previously undertaken...
September 21, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/28892874/mortality-from-multiple-sclerosis-in-british-military-personnel
#12
E Clare Harris, Keith T Palmer, Vanessa Cox, Andrew Darnton, John Osman, David Coggon
BACKGROUND: While analysing trends in occupational mortality in England and Wales, we noticed an unexpectedly elevated proportion of deaths from multiple sclerosis (MS) among men in the armed forces. AIMS: To document and explore possible explanations for the observed excess. METHODS: We analysed data on underlying cause of death and last full-time occupation for 3,688,916 deaths among men aged 20-74 years in England and Wales during 1979-2010, calculating proportional mortality ratios (PMRs) standardised for age...
August 1, 2017: Occupational Medicine
https://www.readbyqxmd.com/read/28859337/amygdala-tdp-43-pathology-in-frontotemporal-lobar-degeneration-and-motor-neuron-disease
#13
Takahiro Takeda, Danielle Seilhean, Isabelle Le Ber, Stéphanie Millecamps, Véronique Sazdovitch, Kazuo Kitagawa, Toshiki Uchihara, Charles Duyckaerts
TDP-43-positive inclusions are present in the amygdala in frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND) including amyotrophic lateral sclerosis. Behavioral abnormalities, one of the chief symptoms of FTLD, could be, at least partly, related to amygdala pathology. We examined TDP-43 inclusions in the amygdala of patients with sporadic FTLD/MND (sFTLD/MND), FTLD/MND with mutation of the C9ORF72 (FTLD/MND-C9) and FTLD with mutation of the progranulin (FTLD-GRN). TDP-43 inclusions were common in each one of these subtypes, which can otherwise be distinguished on topographical and genetic grounds...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28833988/beyond-weakness-characterization-of-pain-sensory-profile-and-conditioned-pain-modulation-in-patients-with-motor-neuron-disease-a-controlled-study
#14
L C G Lopes, R Galhardoni, V Silva, F M H Jorge, L T Yeng, D Callegaro, G Chadi, M J Teixeira, D Ciampi de Andrade
BACKGROUND: Motor neuron diseases (MND) represent a group of disorders that evolve with inexorable muscle weakness and medical management is based on symptom control. However, deeper characterization of non-motor symptoms in these patients have been rarely reported. METHODS: This cross-sectional study aimed to describe non-motor symptoms in MND and their impact on quality of life and functional status, with a focus on pain and sensory changes. Eighty patients (31 females, 55...
August 22, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28829002/supporting-wellbeing-in-motor-neurone-disease-for-patients-carers-social-networks-and-health-professionals-a-scoping-review-and-synthesis
#15
Melanie Harris, Geoff Thomas, Mary Thomas, Paul Cafarella, Allegra Stocks, Julia Greig, R Doug McEvoy
OBJECTIVE: Disease management in motor neurone disease (MND) is focused on preserving quality of life. However, the emphasis has so far been on physical symptoms and functioning and not psychosocial wellbeing. MND affects the wellbeing of carers, of family and social network members, and of healthcare providers, as well as of the patients. We therefore aimed to assess and synthesize the knowledge about maximizing MND-related psychosocial wellbeing across all these groups. METHOD: We used a systematic search and selection process to assess the scope of the literature along with a narrative synthesis of recent high-quality reviews...
August 22, 2017: Palliative & Supportive Care
https://www.readbyqxmd.com/read/28817497/self-care-in-people-with-motor-neuron-disease-an-integrative-review
#16
REVIEW
Barbara Bassola, Maura Lusignani
INTRODUCTION: Self-care is a crucial aspect in the management of chronic diseases. People with motor neuron disease (MND) live with a chronic degenerative condition in rapid evolution, which leads them to high dependencies. During their illness, they must apply several behaviors including adherence to ventilation and nutritional therapy. OBJECTIVE: The purpose of this review is to systematically explore the concept of self-care for people with MND. METHOD: An integrative review of the literature has been conducted...
October 2017: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/28807138/prevalence-and-predictors-of-post-stroke-mood-disorders-a-meta-analysis-and-meta-regression-of-depression-anxiety-and-adjustment-disorder
#17
Alex J Mitchell, Bhavisha Sheth, John Gill, Motahare Yadegarfar, Brendon Stubbs, Mohammad Yadegarfar, Nick Meader
OBJECTIVE: To ascertain the prevalence and predictors of mood disorders, determined by structured clinical interviews (ICD or DSM criteria) in people after stroke. METHODS: Major electronic databases were searched from inception to June 2016 for studies involving major depression (MDD), minor depression (MnD), dysthymia, adjustment disorder, any depressive disorder (any depressive disorder) and anxiety disorders. Studies were combined using both random and fixed effects meta-analysis and results were stratified as appropriate...
July 2017: General Hospital Psychiatry
https://www.readbyqxmd.com/read/28794983/multimodal-structural-mri-in-the-diagnosis-of-motor-neuron-diseases
#18
Pilar M Ferraro, Federica Agosta, Nilo Riva, Massimiliano Copetti, Edoardo Gioele Spinelli, Yuri Falzone, Gianni Sorarù, Giancarlo Comi, Adriano Chiò, Massimo Filippi
This prospective study developed an MRI-based method for identification of individual motor neuron disease (MND) patients and test its accuracy at the individual patient level in an independent sample compared with mimic disorders. 123 patients with amyotrophic lateral sclerosis (ALS), 44 patients with predominantly upper motor neuron disease (PUMN), 20 patients with ALS-mimic disorders, and 78 healthy controls were studied. The diagnostic accuracy of precentral cortical thickness and diffusion tensor (DT) MRI metrics of corticospinal and motor callosal tracts were assessed in a training cohort and externally proved in a validation cohort using a random forest analysis...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28776108/erratum-to-trends-in-research-literature-describing-dysphagia-in-motor-neuron-diseases-mnd-a-scoping-review
#19
Ashley A Waito, Teresa J Valenzano, Melanie Peladeau-Pigeon, Catriona M Steele
No abstract text is available yet for this article.
December 2017: Dysphagia
https://www.readbyqxmd.com/read/28752495/changing-clinical-phenotypes-of-hiv-associated-neurocognitive-disorders
#20
Ned Sacktor
HIV-associated neurocognitive disorder (HAND) remains a common cause of cognitive impairment and persists in 15-55% of HIV+ individuals in the combination antiretroviral therapy (CART) era. CART is now the primary treatment for HAND, but it is effective in only a subset of patients. In the pre-CART era, HIV-associated dementia was the most common form of HAND. However, in CART-treated patients, the prevalence of HIV-associated dementia has declined substantially, and milder stages of HAND, i.e., ANI and MND predominate...
July 27, 2017: Journal of Neurovirology
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