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https://www.readbyqxmd.com/read/27897242/cortical-synaptic-and-dendritic-spine-abnormalities-in-a-presymptomatic-tdp-43-model-of-amyotrophic-lateral-sclerosis
#1
Matthew J Fogarty, Paul M Klenowski, John D Lee, Joy R Drieberg-Thompson, Selena E Bartlett, Shyuan T Ngo, Massimo A Hilliard, Mark C Bellingham, Peter G Noakes
Layer V pyramidal neurons (LVPNs) within the motor cortex integrate sensory cues and co-ordinate voluntary control of motor output. In amyotrophic lateral sclerosis (ALS) LVPNs and spinal motor neurons degenerate. The pathogenesis of neural degeneration is unknown in ALS; 10% of cases have a genetic cause, whereas 90% are sporadic, with most of the latter showing TDP-43 inclusions. Clinical and experimental evidence implicate excitotoxicity as a prime aetiological candidate. Using patch clamp and dye-filling techniques in brain slices, combined with high-resolution confocal microscopy, we report increased excitatory synaptic inputs and dendritic spine densities in early presymptomatic mice carrying a TDP-43(Q331K) mutation...
November 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27892983/association-of-mutations-in-tbk1-with-sporadic-and-familial-amyotrophic-lateral-sclerosis-and-frontotemporal-dementia
#2
Axel Freischmidt, Kathrin Müller, Albert C Ludolph, Jochen H Weishaupt, Peter M Andersen
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related neurodegenerative syndromes that occur sporadically or have been associated with mostly dominant inheritance of mutations in more than 30 genes. A critical issue is whether all reported mutations are disease causing or are coincidental findings. In this review we analyze the pathogenicity of nonsynonymous variants in the newly discovered gene encoding TANK-binding kinase 1 (TBK1). The available data suggest that mutations in TBK1 that cause a 50% reduction of TBK1 protein levels are pathogenic...
November 21, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27892707/is-firstly-diagnosed-als-really-als-results-of-a-population-based-study-with-long-term-follow-up
#3
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/27888187/what-does-the-alsfrs-r-really-measure-a-longitudinal-and-survival-analysis-of-functional-dimension-subscores-in-amyotrophic-lateral-sclerosis
#4
James Rooney, Tom Burke, Alice Vajda, Mark Heverin, Orla Hardiman
INTRODUCTION: ALS functional rating scale (revised) (ALSFRS-R) is the most widely used functional rating system in patients with amyotrophic lateral sclerosis (ALS). However, heterogeneity in ALSFRS-R progression renders analysis challenging. We have explored the characteristics of total ALSFRS-R, and ALSFRS-R subscores in longitudinal and survival models, to determine whether subscore analysis enhances the precision of the instrument. METHODS: All cases with ALSFRS-R scores on the Irish ALS register were included...
November 25, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27878793/novel-cases-of-amyotrophic-lateral-sclerosis-after-treatment-of-cerebral-arteriovenous-malformationss
#5
Michael Linnebank, Cameron G McDougall, Stefanie Krueger, Saskia Biskup, Manuela Neumann, Michael Weller, Antonios Valavanis, Johannes Prudlo
Previous case studies reported nine patients with cerebral arteriovenous malformations (AVM) who developed amyotrophic lateral sclerosis (ALS) after AVM embolisation. Here, we describe three novel cases of ALS which developed 13-34 years after treatment, including embolisation, of cerebral AVM. This study provides further arguments supporting the thesis that embolisation of cerebral AVM might influence the risk of later ALS development.
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27863479/myasthenic-symptoms-in-anti-low-density-lipoprotein-receptor-related-protein-4-antibody-seropositive-amyotrophic-lateral-sclerosis-two-case-reports
#6
Hisashi Takahashi, Yu-Ichi Noto, Naoki Makita, Yukie Kushimura-Okada, Ryotaro Ishii, Akihiro Tanaka, Tomoyuki Ohara, Shunya Nakane, Osamu Higuchi, Masanori Nakagawa, Toshiki Mizuno
BACKGROUND: Myasthenic symptoms can be present in patients with amyotrophic lateral sclerosis (ALS). These symptoms have been considered to be caused by the degeneration of distal motor neurons and the neuromuscular junction (NMJ). Recent studies suggested that antibody to low-density lipoprotein receptor-related protein 4 (LRP4) was a pathogenic agent of myasthenia gravis (MG), and it was also detected in ALS patients. CASE PRESENTATION: Patient 1: A 58-year-old Japanese man developed progressive weakness and subsequent myasthenic symptoms including oculomotor disturbance...
November 18, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27791428/cpr-induced-consciousness-during-out-of-hospital-cardiac-arrest-a-case-report-on-an-emerging-phenomenon
#7
Joshua Pound, P Richard Verbeek, Sheldon Cheskes
BACKGROUND: High quality cardiopulmonary resuscitation (CPR) has produced a relatively new phenomenon of consciousness in patients with vital signs absent. Further research is necessary to produce a viable treatment strategy during and post resuscitation. OBJECTIVE: To provide a case study done by paramedics in the field illustrating the need for sedation in a patient whose presentation was consistent with CPR induced consciousness. Resuscitative challenges are provided as well as potential future treatment options to minimize harm to both patients and prehospital providers...
October 28, 2016: Prehospital Emergency Care
https://www.readbyqxmd.com/read/27731383/fus-interacts-with-nuclear-matrix-associated-protein-safb1-as-well-as-matrin3-to-regulate-splicing-and-ligand-mediated-transcription
#8
Atsushi Yamaguchi, Keisuke Takanashi
FUS (Fused-in-Sarcoma) is a multifunctional DNA/RNA binding protein linked to familial amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). Since FUS is localized mainly in the nucleus with nucleo-cytoplasmic shuttling, it is critical to understand physiological functions in the nucleus to clarify pathogenesis. Here we report a yeast two-hybrid screening identified FUS interaction with nuclear matrix-associated protein SAFB1 (scaffold attachment factor B1). FUS and SAFB1, abundant in chromatin-bound fraction, interact in a DNA-dependent manner...
October 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27694488/identification-and-outcomes-of-clinical-phenotypes-in-amyotrophic-lateral-sclerosis-motor-neuron-disease-australian-national-motor-neuron-disease-observational-cohort
#9
Paul Talman, Thi Duong, Steve Vucic, Susan Mathers, Svetha Venkatesh, Robert Henderson, Dominic Rowe, David Schultz, Robert Edis, Merrilee Needham, Richard Macdonnell, Pamela McCombe, Carol Birks, Matthew Kiernan
OBJECTIVE: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. METHODS: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. DESIGN: Prospective observational cohort study...
September 30, 2016: BMJ Open
https://www.readbyqxmd.com/read/27673037/poster-280-als-masked-by-breast-cancer-history-and-low-back-pain-a-case-report
#10
Patrick Dolan, Bhavi Patel, Marcel G Bayol
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27663272/c9orf72-expansion-differentially-affects-males-with-spinal-onset-amyotrophic-lateral-sclerosis
#11
James Rooney, Isabella Fogh, Henk-Jan Westeneng, Alice Vajda, Russell McLaughlin, Mark Heverin, Ashley Jones, Ruben van Eijk, Andrea Calvo, Letizia Mazzini, Christopher Shaw, Karen Morrison, Pamela J Shaw, Wim Robberecht, Phillip Van Damme, Ammar Al-Chalabi, Leonard van den Berg, Adriano Chiò, Jan Veldink, Orla Hardiman
INTRODUCTION: The C9orf72 repeat expansion has been reported as a negative prognostic factor in amyotrophic lateral sclerosis (ALS). We have examined the prognostic impact of the C9orf72 repeat expansion in European subgroups based on gender and site of onset. METHODS: C9orf72 status and demographic/clinical data from 4925 patients with ALS drawn from 3 prospective ALS registers (Ireland, Italy and the Netherlands), and clinical data sets in the UK and Belgium. Flexible parametric survival models were built including known prognostic factors (age, diagnostic delay and site of onset), gender and the presence of an expanded repeat in C9orf72...
September 23, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27625421/the-importance-of-ground-critical-care-transport-a-case-series-and-literature-review
#12
Susan R Wilcox, Michael Ries, Ted A Bouthiller, E Dean Berry, Travis L Dowdy, Sharon DeGrace
Critical care transport (CCT) teams are specialized transport services, comprised of highly trained paramedics, nurses, and occasionally respiratory therapists, offering an expanded scope of practice beyond advanced life support (ALS) emergency medical service teams. We report 4 cases of patients with severe acute respiratory distress syndrome from influenza in need of extracorporeal membrane oxygenation evaluation at a tertiary care center, transported by ground. Our medical center did not previously have a ground CCT service, and therefore, in these cases, a physician and/or a respiratory therapist was sent with the paramedic team...
September 13, 2016: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/27604643/screening-of-sod1-fus-and-tardbp-genes-in-patients-with-amyotrophic-lateral-sclerosis-in-central-southern-china
#13
Lihua Hou, Bin Jiao, Tingting Xiao, Lu Zhou, Zhifan Zhou, Juan Du, Xinxiang Yan, Junling Wang, Beisha Tang, Lu Shen
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons of the brain, brainstem and spinal cord. To date, mutations in more than 30 genes have been linked to the pathogenesis of ALS. Among them, SOD1, FUS and TARDBP are ranked as the three most common genes associated with ALS. However, no mutation analysis has been reported in central-southern China. In this study, we sequenced SOD1, FUS and TARDBP in a central-southern Chinese cohort of 173 patients with ALS (15 familial ALS and 158 sporadic ALS) to detect mutations...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27600654/pathogenesis-of-fus-associated-als-and-ftd-insights-from-rodent-models
#14
REVIEW
Matthew Nolan, Kevin Talbot, Olaf Ansorge
Disruptions to genes linked to RNA processing and homeostasis are implicated in the pathogenesis of two pathologically related but clinically heterogeneous neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in the Fused-in-Sarcoma (FUS) gene encoding a 526 amino-acid RNA-binding protein are found in a small subset of ALS cases, but FUS mutations do not appear to be a direct cause of FTD. Structural and functional similarities between FUS and another ALS-related RNA-binding protein, TDP-43, highlight the potential importance of aberrant RNA processing in ALS/FTD, and this pathway is now a major focus of interest...
2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27579520/a-multicentre-evaluation-of-oropharyngeal-secretion-management-practices-in-amyotrophic-lateral-sclerosis
#15
Alexander J McGeachan, Esther V Hobson, Ammar Al-Chalabi, Jodie Stephenson, Siddharthan Chandran, Francesca Crawley, David Dick, Colette Donaghy, Cathy M Ellis, George Gorrie, Oliver C Hanemann, Timothy Harrower, Agam Jung, Andrea Malaspina, Karen E Morrison, Richard W Orrell, Kevin Talbot, Martin R Turner, Timothy L Williams, Carolyn A Young, Pamela J Shaw, Christopher J McDermott
Failure to clear oral secretions can be debilitating for patients with amyotrophic lateral sclerosis (ALS), but the treatment of this symptom is poorly defined and there is no consensus on best practice. The objective of this study was to identify the treatments that are commonly prescribed, and to describe how experienced clinicians manage a patient with treatment resistant symptoms. Twenty-three clinicians were approached, of which 19 from 16 centres across the UK provided case report forms for a total of 119 ALS patients identified as having problematic oral secretions...
August 31, 2016: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/27578015/identification-of-chchd10-mutation-in-chinese-patients-with-alzheimer-disease
#16
Tingting Xiao, Bin Jiao, Weiwei Zhang, Chuzheng Pan, Jingya Wei, Xiaoyan Liu, Yafang Zhou, Lin Zhou, Beisha Tang, Lu Shen
CHCHD10 gene has been identified to be associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Considering the clinical phenotype and pathology characterization were overlapped between FTD and Alzheimer disease (AD), and so far, no systematic analysis of CHCHD10 mutation was conducted in patients with AD in Asian population. Therefore, we screened of all exons in CHCHD10 in a cohort of 484 AD patients (60 with family history) from Mainland China. A heterozygous variant p.A35D (c...
August 30, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27571895/neuronal-overexpression-of-human-vapb-slows-motor-impairment-and-neuromuscular-denervation-in-a-mouse-model-of-als
#17
Ji-Yoen Kim, Ava Jang, Rohit Reddy, Wan Hee Yoon, Joanna L Jankowsky
Four mutations in the VAMP/synaptobrevin-associated protein B (VAPB) gene have been linked to amyotrophic lateral sclerosis (ALS) type 8. The mechanism by which VAPB mutations cause motor neuron disease is unclear, but studies of the most common P56S variant suggest both loss of function and dominant-negative sequestration of wild-type protein. Diminished levels of VAPB and its proteolytic cleavage fragment have also been reported in sporadic ALS cases, suggesting that VAPB loss of function may be a common mechanism of disease...
August 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27554286/als-ftld-associated-mutations-of-sqstm1-impact-on-keap1-nrf2-signalling
#18
Alice Goode, Sarah Rea, Melanie Sultana, Barry Shaw, Mark S Searle, Robert Layfield
The transcription factor Nrf2 and its repressor protein Keap1 play key roles in the regulation of antioxidant stress responses and both Keap1-Nrf2 signalling and oxidative stress have been implicated in the pathogenesis of the ALS-FTLD spectrum of neurodegenerative disorders. The Keap1-binding partner and autophagy receptor SQSTM1/p62 has also recently been linked genetically to ALS-FTLD, with some missense mutations identified in patients mapping within or close to its Keap1-interacting region (KIR, residues 347-352)...
October 2016: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/27552392/what-s-in-the-literature
#19
Nicholas J Silvestri, Gil I Wolfe, David Lacomis, Mark B Bromberg
The Guillain-Barré syndrome (GBS) is one of the few neuropathies well known to the general public, in part because of its association with swine flu vaccinations in 1976. GBS has again reached the general public with its possible association with Zika virus. The virus, borne by infected Aedes aegypti mosquitos, is being linked to birth defects when pregnant women are bitten and infected. There are early reports also linking GBS to Zika infection, which could expose a wider range of infected people to the neuropathy...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27514792/hypoparathyroidism-a-rare-mimicker-of-amyotrophic-lateral-sclerosis
#20
Haris Hakeem, Masood Uz Zaman, Sara Khan
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) carries a grim prognosis. Various ALS mimics have been reported and should be excluded before confirming this diagnosis. METHODS: We report the case of a 61-year-old man who presented with progressively worsening limb weakness and dysphagia. His examination showed mixed upper and lower motor neuron signs without sensory impairment. ALS was suspected, however atypical diffuse pain prompted diagnostic work-up to exclude other causes...
August 12, 2016: Muscle & Nerve
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