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https://www.readbyqxmd.com/read/29771729/self-regulation-and-executive-functioning-as-related-to-survival-in-motor-neuron-disease-preliminary-findings
#1
Natasha E Garcia-Willingham, Abbey R Roach, Edward J Kasarskis, Suzanne C Segerstrom
OBJECTIVE: Disease progression varies widely among patients with motor neuron disease (MND). Patients with MND and coexisting dementia have shorter survival. However, implications of mild cognitive and behavioral difficulties are unclear. The present study examined the relative contribution of executive functioning and self-regulation difficulties on survival over a 6-year period among patients with MND, who scored largely within normal limits on cognitive and behavioral indices. METHODS: Patients with MND (N=37, age=59...
May 16, 2018: Psychosomatic Medicine
https://www.readbyqxmd.com/read/29750730/the-changing-landscape-of-motor-neuron-disease-imaging-the-transition-from-descriptive-studies-to-precision-clinical-tools
#2
Peter Bede, Giorgia Querin, Pierre-François Pradat
PURPOSE OF REVIEW: Neuroimaging in motor neuron disease (MND) has traditionally been seen as an academic tool with limited direct relevance to individualized patient care. This has changed radically in recent years as computational imaging has emerged as a viable clinical tool with true biomarker potential. This transition is not only fuelled by technological advances but also by important conceptual developments. RECENT FINDINGS: The natural history of MND is now evaluated by presymptomatic, postmortem and multi-timepoint longitudinal imaging studies...
May 9, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29742062/global-perspective-of-novel-therapeutic-strategies-for-the-management-of-neuroaids
#3
Swatantra Kumar, Vimal K Maurya, Himanshu R Dandu, Madan Lb Bhatt, Shailendra K Saxena
Among Human immunodeficiency virus (HIV) infected individuals, around two-thirds of patients present with neuroAIDS, where HIV-associated neurocognitive disorders (HAND), and HIV-associated dementia (HAD) are the most prevailing neurological complications. The neuropathology of neuroAIDS can be characterized by the presence of HIV infected macrophages and microglia in the brain, with the formation of multinucleated giant cells. Global predominant subtypes of HIV-1 clade B and C infections influence the differential effect of immune and neuronal dysfunctions, leading to clade-specific clinical variation in neuroAIDS patient cohorts...
May 8, 2018: Biomolecular Concepts
https://www.readbyqxmd.com/read/29731706/phosphorylation-of-threonine-175-tau-in-the-induction-of-tau-pathology-in-amyotrophic-lateral-sclerosis-frontotemporal-spectrum-disorder-als-ftsd-a-review
#4
REVIEW
Alexander J Moszczynski, Matthew A Hintermayer, Michael J Strong
Approximately 50-60% of all patients with amyotrophic lateral sclerosis (ALS) will develop a deficit of frontotemporal function, ranging from frontotemporal dementia (FTD) to one or more deficits of neuropsychological, speech or language function which are collectively known as the frontotemporal spectrum disorders of ALS (ALS-FTSD). While the neuropathology underlying these disorders is most consistent with a widespread alteration in the metabolism of transactive response DNA-binding protein 43 (TDP-43), in both ALS with cognitive impairment (ALSci) and ALS with FTD (ALS-FTD; also known as MND-FTD) there is evidence for alterations in the metabolism of the microtubule associated protein tau...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29725842/motor-neuron-disease-of-paraneoplastic-origin-a-rare-but-treatable-condition
#5
Nicolas Mélé, Giulia Berzero, Thierry Maisonobe, François Salachas, Guillaume Nicolas, Nicolas Weiss, Guillemette Beaudonnet, Francois Ducray, Dimitri Psimaras, Timothée Lenglet
Paraneoplastic motor neuron disorders (MND) are rare conditions; their exact clinical and electrophysiological phenotype have not been exhaustively described yet. The purpose of this study is to depict the main characteristics of paraneoplastic MND to highlight the features that may allow its diagnosis. Based on the description of eight original cases, and on the revision of 21 patients identified from a systematic review of the literature, the main features of paraneoplastic MND can be summarized as follows: (1) subacute; (2) lower motor neuron syndrome, associated or not with upper motor neuron involvement; (3) predominant asymmetric upper limb involvement; (4) presence of other non-motor neurological manifestations, including sensory neuronopathy; (5) signs of inflammation in the cerebrospinal fluid (CSF); (6) neurological improvement or stabilization after immunotherapy and tumor treatment...
May 3, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29715546/tdp-43-interacts-with-mitochondrial-proteins-critical-for-mitophagy-and-mitochondrial-dynamics
#6
Stephani A Davis, Sheed Itaman, Christopher M Khalid-Janney, Justin A Sherard, James A Dowell, Nigel J Cairns, Michael A Gitcho
Transactive response DNA-binding protein of 43 kDa (TDP-43) functions as a heterogeneous nuclear ribonucleoprotein and is the major pathological protein in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis/motor neuron disease (ALS/MND). TDP-43 pathology may also be present as a comorbidity in approximately 20-50% of sporadic Alzheimer's disease cases. In a mouse model of MND, full-length TDP-43 increases association with the mitochondria and blocking the TDP-43/mitochondria interaction ameliorates motor dysfunction...
April 30, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29694602/is-the-telomere-length-associated-with-neurocognitive-disabilities-in-hiv-1-infected-subjects
#7
Marilia Ladeira de Araújo, Wellington Duarte, Augusto César Penalva de Oliveira, Maria Rita Polo Gascón, Luiz Augusto Marcondes Fonseca, Raquel de Melo Alves Paiva, Bárbara Santana, Rodrigo Tocantins Calado, Jorge Casseb
OBJECTIVE: We evaluated the association between cognitive deficits and leukocyte telomere length (LTL) in HIV-1-infected individuals. DESIGN: 73 HIV-1-infected patients undergoing neuropsychological evaluation and 91 healthy controls were included in this study. Fifteen HIV-1 positive patients did not have cognitive disorders whereas 26 had asymptomatic neurocognitive disorder (ANI), 13 presented mild to moderate neurocognitive disorder (MND), and 10 had HIV-associated dementia (HAD)...
2018: Revista do Instituto de Medicina Tropical de São Paulo
https://www.readbyqxmd.com/read/29692728/purinergic-receptors-in-neurological-diseases-with-motor-symptoms-targets-for-therapy
#8
REVIEW
Ágatha Oliveira-Giacomelli, Yahaira Naaldijk, Laura Sardá-Arroyo, Maria C B Gonçalves, Juliana Corrêa-Velloso, Micheli M Pillat, Héllio D N de Souza, Henning Ulrich
Since proving adenosine triphosphate (ATP) functions as a neurotransmitter in neuron/glia interactions, the purinergic system has been more intensely studied within the scope of the central nervous system. In neurological disorders with associated motor symptoms, including Parkinson's disease (PD), motor neuron diseases (MND), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), Huntington's Disease (HD), restless leg syndrome (RLS), and ataxias, alterations in purinergic receptor expression and activity have been noted, indicating a potential role for this system in disease etiology and progression...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29678693/disseminators-or-silencers-the-effect-of-information-diffusion-intensity-on-cooperation-in-public-goods-game
#9
Tong Chen, Zhenghong Wu, Le Wang
In the Network Era, with the emergence of various instant communication tools, the public are easier to be disseminators than ever. But we have often heard that silence is golden. Inspired by this fact, we investigate that whether the existence of disseminators is beneficial to promote cooperation in the provision of public culture services. To answer this interesting question, we classify disseminators as neutral disseminators, positive disseminators and negative disseminators. And four models are set up, namely, neutral disseminator model (MBD), positive disseminator model (MPD), negative disseminator model (MND) and silencer model (MS)...
April 17, 2018: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/29652734/being-yourself-and-thinking-about-the-future-in-people-with-motor-neuron-disease-a-grounded-theory-of-self-care-processes
#10
Barbara Bassola, Valeria Ada Sansone, Maura Lusignani
INTRODUCTION: Self-care is a crucial aspect in the management of people with motor neuron disease (MND). Nurses and healthcare professionals must know the processes used by patients in performing self-care to identify problems and help them. Decision-making processes, self-understanding, and political and social support influence the self-care process in chronic diseases. Little is known about the self-care process in MND. OBJECTIVE: The aim of this study was to gain insight on the self-care processes in people with MND...
April 12, 2018: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
https://www.readbyqxmd.com/read/29650794/comprehensive-analysis-of-the-mutation-spectrum-in-301-german-als-families
#11
Kathrin Müller, David Brenner, Patrick Weydt, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Grosskreutz, Joachim Schuster, Alexander E Volk, Guntram Borck, Christian Kubisch, Thomas Klopstock, Daniel Zeller, Sibylle Jablonka, Michael Sendtner, Stephan Klebe, Antje Knehr, Kornelia Günther, Joachim Weis, Kristl G Claeys, Berthold Schrank, Anne-Dorte Sperfeld, Annemarie Hübers, Markus Otto, Johannes Dorst, Thomas Meitinger, Tim M Strom, Peter M Andersen, Albert C Ludolph, Jochen H Weishaupt
OBJECTIVES: Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions. METHODS: Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome sequencing to obtain a comprehensive profile of genetic variants in ALS disease genes in 301 German pedigrees with familial ALS...
April 12, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29649521/modelling-motor-neuron-disease-in-fruit-flies-lessons-from-spinal-muscular-atrophy
#12
Beppe Aquilina, Ruben J Cauchi
Motor neuron disease (MND) is characterised by muscle weakness and paralysis downstream of motor neuron degeneration. Genetic factors play a major role in disease pathogenesis and progression. This is best underscored by spinal muscular atrophy (SMA), the most common MND affecting children. Although SMA is caused by homozygous mutations in the survival motor neuron 1 (SMN1) gene, partial compensation by the paralogous SMN2 gene and/or genetic modifiers influence age of onset and disease severity. SMA is also the first MND that is treatable thanks to the recent development of a molecular-based therapy...
April 9, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/29605507/developmental-dysgraphia-is-often-associated-with-minor-neurological-dysfunction-in-children-with-developmental-coordination-disorder-dcd
#13
Clémence Lopez, Cherhazad Hemimou, Bernard Golse, Laurence Vaivre-Douret
OBJECTIVES: Children with developmental coordination disorder (DCD) are particularly affected by handwriting disorders, which remain poorly understood and are not clearly defined. The aim of our study is to provide a better understanding of handwriting disorders, and specifically of dysgraphia in children with DCD. METHODS: Sixty-five children with DCD (5-15 years), enrolled according to DSM-5, were assessed with handwriting testing and standardized assessments of neuropsychological, neurovisual, MRI and neuropsychomotor functions, with special attention paid to muscular tone examination...
March 28, 2018: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/29602909/age-dependent-sex-ratios-of-motor-neuron-disease-french-nationwide-study-and-meta-analysis
#14
Pasarlai Ahmadzai, Sofiane Kab, Tim Vlaar, Fanny Artaud, Laure Carcaillon-Bentata, Marianne Canonico, Frédéric Moisan, Alexis Elbaz
OBJECTIVE: To examine the relation of age with male-to-female (M/F) ratios and incidence rates of motor neuron disease (MND) in a French nationwide study and meta-analysis of incidence studies. METHODS: We used data from the French National Health Insurance databases. Patients with incident MND (2010-2014) were identified based on drug claims (riluzole), hospitalization records, death records, and long-term chronic disease benefits. We estimated age-specific M/F incidence ratios using Poisson regression...
March 30, 2018: Neurology
https://www.readbyqxmd.com/read/29581463/engineered-3d-vascular-and-neuronal-networks-in-a-microfluidic-platform
#15
Tatsuya Osaki, Vivek Sivathanu, Roger D Kamm
Neurovascular coupling plays a key role in the pathogenesis of neurodegenerative disorders including motor neuron disease (MND). In vitro models provide an opportunity to understand the pathogenesis of MND, and offer the potential for drug screening. Here, we describe a new 3D microvascular and neuronal network model in a microfluidic platform to investigate interactions between these two systems. Both 3D networks were established by co-culturing human embryonic stem (ES)-derived MN spheroids and endothelial cells (ECs) in microfluidic devices...
March 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29574748/sirt1-regulates-nuclear-number-and-domain-size-in-skeletal-muscle-fibers
#16
Jacob A Ross, Yotam Levy, Kristoffer Svensson, Andrew Philp, Simon Schenk, Julien Ochala
Skeletal muscle fibers are giant multinucleated cells wherein individual nuclei govern the protein synthesis in a finite volume of cytoplasm; this is termed the myonuclear domain (MND). The factors that control MND size remain to be defined. In the present study, we studied the contribution of the NAD+ -dependent deacetylase, sirtuin 1 (SIRT1), to the regulation of nuclear number and MND size. For this, we isolated myofibers from mice with tissue-specific inactivation (mKO) or inducible overexpression (imOX) of SIRT1 and analyzed the 3D organisation of myonuclei...
March 25, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29573402/minor-neurological-dysfunction-and-associations-with-motor-function-general-cognitive-abilities-and-behaviour-in-children-born-extremely-preterm
#17
Lina Broström, Brigitte Vollmer, Jenny Bolk, Eva Eklöf, Ulrika Ådén
AIM: To study the prevalence of minor neurological dysfunction (MND) at 6 years of age in a cohort of children born extremely preterm without cerebral palsy (CP) and to investigate associations with motor function, cognitive abilities, and behaviour. METHOD: This study assessed 80 children born at less than 27 weeks of gestation and 90 children born at term age between 2004 and 2007 at a mean age of 6 years 6 months. The assessments included a simplified version of the Touwen Infant Neurological Examination, the Movement Assessment Battery for Children, Second Edition (MABC-2), Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV), the Strengths and Difficulties Questionnaire (SDQ), and the parent version of the Five to Fifteen questionnaire...
March 24, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29571877/-the-shock-of-diagnosis-qualitative-accounts-from-people-with-motor-neurone-disease-reflecting-the-need-for-more-person-centred-care
#18
Samar M Aoun, Mary R O'Brien, Lauren J Breen, Margaret O'Connor
The diagnosis of Motor Neurone Disease (MND) is devastating for people with MND (PwMND) and their families. The objective of this study is to describe the experiences of PwMND in receiving the diagnosis in order to inform a more person-centred approach to communicating such bad news. The design was an anonymous postal survey facilitated by all MND associations across Australia (2014-15). Survey questions centred on the SPIKES protocol for communicating bad news; each question contained an area for written responses, which were thematically analysed for content...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29531534/derivation-and-identification-of-motor-neurons-from-human-urine-derived-induced-pluripotent-stem-cells
#19
Huan Yi, Bingbing Xie, Ben Liu, Xuan Wang, Li Xu, Jia Liu, Min Li, Xiufeng Zhong, Fuhua Peng
Induced pluripotent stem cells (iPSCs) have provided new opportunities for motor neuron disease (MND) modeling, drug screening, and cellular therapeutic development. Among the various types of iPSCs, urine-derived iPSCs have become a promising source of stem cells because they can be safely and noninvasively isolated and easily reprogrammed. Here, for the first time, we differentiated urine-derived iPSCs (urine-iPSCs) into motor neurons (MNs) and compared the capacity of urine-iPSCs and cord-blood-derived iPSCs (B-iPSCs) to differentiate into MNs...
2018: Stem Cells International
https://www.readbyqxmd.com/read/29518277/the-meaning-of-living-with-uncertainty-for-people-with-motor-neurone-disease
#20
Denise Andrea Harris, Kirsten Jack, Christopher Wibberley
AIMS AND OBJECTIVES: To explore the meaning of living with uncertainty for people diagnosed with motor neurone disease (MND). BACKGROUND: Motor neurone disease is a progressive neurodegenerative condition resulting in multiple needs, arising from the complex nature of the disease trajectory. People with MND are often required to make decisions for symptom management and end-of-life care. Research into the lived experience of MND has previously highlighted the following: the shock of receiving such a diagnosis and prognosis; subsequent concerns relating to the future and loss; and the existential suffering for a person with MND...
March 8, 2018: Journal of Clinical Nursing
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