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Als case report

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
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
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
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
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
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
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
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
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
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
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
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
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
Ryogen Sasaki, Maya Mimuro, Yasumasa Kokubo, Hiroshi Imai, Mari Yoshida, Hidekazu Tomimoto
We report an autopsy case of globular glial tauopathy (GGT) presenting clinically with amyotrophic lateral sclerosis (ALS) with dementia. A 79-year-old female developed weakness in the right upper limb, which progressed gradually. She developed apathy and speech disorder at 80 years of age. On neurological examination, she showed signs of upper and lower motor neuron disorder and dementia, but no extrapyramidal signs. The clinical diagnosis was ALS with dementia. The autopsy revealed left predominant marked atrophy of the frontal lobe due to severe neuronal loss and Gliosis...
August 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Paul Mehta, Wendy Kaye, Leah Bryan, Theodore Larson, Timothy Copeland, Jennifer Wu, Oleg Muravov, Kevin Horton
PROBLEM/CONDITION: Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease for which no cure or viable treatment has been identified. ALS, like most noncommunicable diseases, is not a nationally notifiable disease in the United States. The prevalence of ALS in the United States during 2010-2011 was estimated to be 3.9 cases per 100,000 persons in the general population. Updated prevalence estimates are needed to help monitor disease status, better understand etiology, and identify risk factors for ALS...
2016: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
Kohji Mori, Yoshihiro Nihei, Thomas Arzberger, Qihui Zhou, Ian R Mackenzie, Andreas Hermann, Frank Hanisch, Frits Kamp, Brigitte Nuscher, Denise Orozco, Dieter Edbauer, Christian Haass
Intronic hexanucleotide (G4C2) repeat expansions in C9orf72 are genetically associated with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). The repeat RNA accumulates within RNA foci but is also translated into disease characterizing dipeptide repeat proteins (DPR). Repeat-dependent toxicity may affect nuclear import. hnRNPA3 is a heterogeneous nuclear ribonucleoprotein, which specifically binds to the G4C2 repeat RNA We now report that a reduction of nuclear hnRNPA3 leads to an increase of the repeat RNA as well as DPR production and deposition in primary neurons and a novel tissue culture model that reproduces features of the C9orf72 pathology...
September 2016: EMBO Reports
Marisa Kamelgarn, Jing Chen, Lisha Kuang, Alexandra Arenas, Jianjun Zhai, Haining Zhu, Jozsef Gal
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Mutations in the Fused in Sarcoma/Translocated in Liposarcoma (FUS/TLS) gene cause a subset of familial ALS cases and are also implicated in sporadic ALS. FUS is typically localized to the nucleus. The ALS-related FUS mutations cause cytoplasmic mis-localization and the formation of stress granule-like structures. Abnormal cytoplasmic FUS localization was also found in a subset of frontotemporal dementia (FTLD) cases without FUS mutations...
October 2016: Biochimica et Biophysica Acta
Nimeshan Geevasinga, Parvathi Menon, Daniel B Scherman, Neil Simon, Con Yiannikas, Robert D Henderson, Matthew C Kiernan, Steve Vucic
OBJECTIVE: To assess the sensitivity and specificity of the Awaji and revised El Escorial diagnostic criteria (rEEC) in amyotrophic lateral sclerosis (ALS). METHODS: We conducted a large prospective multicenter study, recruiting 416 patients (253 male, 163 female) between January 1, 2012, and August 31, 2015, to compare the diagnostic accuracy of Awaji and rEEC in accordance with standards of reporting of diagnostic accuracy criteria. RESULTS: The sensitivity of the Awaji criteria (57%, 50...
August 16, 2016: Neurology
Chaitanya Bonda, Murali K Kolikonda, Martin E Brown, Steven Lippmann
Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases...
January 2016: Innovations in Clinical Neuroscience
Andrew Christie, Brenda Costa-Scorse, Mike Nicholls, Peter Jones, Graham Howie
OBJECTIVE: The present study aims to determine the agreement between paramedic and ED or hospital working diagnosis in dyspnoeic patients. METHODS: Non-consecutive written patient report forms were retrospectively audited for patients suffering from dyspnoea, who were transported to a tertiary hospital ED by ambulance paramedics. Accuracy of the paramedic working diagnosis was assessed by comparing agreement with either the primary or secondary ED diagnoses or hospital discharge diagnosis...
October 2016: Emergency Medicine Australasia: EMA
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