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https://www.readbyqxmd.com/read/28089419/risk-factors-for-respiratory-failure-of-motor-neuron-disease-in-a-multiracial-asian-population
#1
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/28054830/a-novel-mutation-of-the-c-terminal-amino-acid-of-fus-y526c-strengthens-fus-gene-as-the-most-frequent-genetic-factor-in-aggressive-juvenile-als
#2
Philippe Corcia, Veronique Danel, Arnaud Lacour, Stephane Beltran, Christian Andres, Philippe Couratier, Helene Blasco, Patrick Vourc'h
Although amyotrophic lateral sclerosis (ALS) typically occurs around 60 years, numerous publications report an onset of ALS before the age of 25 years that define juvenile ALS (jALS). Over the last decade, growing literature mentioned jALS with an aggressive evolution which are mainly linked to the FUS gene. We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon...
January 5, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28035186/rapid-progression-of-sporadic-als-in-a-patient-carrying-sod1-p-gly13arg-mutation
#3
Myung-Jin Kim, Jae-Han Bae, Jeong-Min Kim, Hye Ryoun Kim, Byung-Nam Yoon, Jung-Joon Sung, Suk-Won Ahn
Amyotrophic lateral sclerosis (ALS), the most common adult onset motor neuron disease, is pathologically characterized by progressive loss of the upper and lower motor neurons. Mutations in the Cu/Zn superoxide dismutase gene (SOD1) account for about 20% of familial ALS cases and a small percentage of sporadic ALS (SALS) cases, and have revealed a validated genotype-phenotype correlation. Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons...
December 2016: Experimental Neurobiology
https://www.readbyqxmd.com/read/28025808/backbone-resonance-assignments-of-monomeric-sod1-in-dilute-and-crowded-environments
#4
Naoto Iwakawa, Daichi Morimoto, Erik Walinda, Kenji Sugase, Masahiro Shirakawa
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that leads to movement disorders. In motor neurons of ALS patients, intracellular aggregates of superoxide dismutase 1 (SOD1) have often been observed. To elucidate the aggregation mechanism, it is important to analyze the folding equilibrium of SOD1 between folded and aggregation-prone unfolded states. However, in most cases, this folding equilibrium has been studied in dilute solution even though the aggregate formation occurs in a highly crowded intracellular environment...
December 26, 2016: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/28012325/short-and-long-term-outcomes-after-pancreaticoduodenectomy-following-total-gastorectomy-report-of-case-series-and-literature-review
#5
Satoshi Yokoyama, Kohei Ueno, Yasuhiro Higashide, Atsushi Noma, Yuko Okishio, Mitsuru Masuda, Takumi Miyamoto, Ryo Kamimura, Shinichi Hosokawa, Yoshikuni Yonenaga, Daisuke Ito, Masato Ichimiya, Yoshito Yamashita, Shiro Uyama, Shady EIGhazly Harb
PURPOSE: Pancreaticoduodenectomy (PD) following gastrectomy (TG) should be considered challenging even currently although its procedure and clinical value have been being standardized. Short- and long-term outcomes as well as standard reconstruction method following these procedures remain unclear. In order to clarify these issues, we reviewed worldwide English literature and 4 of our own cases of PD for patients with previous TG. METHODS: Clinicopathological variables of 11 cases of PD for patients with previous TG were evaluated...
November 27, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28000348/no-association-between-borrelia-burgdorferi-antibodies-and-amyotrophic-lateral-sclerosis-in-a-case-control-study
#6
A E Visser, F M Verduyn Lunel, J H Veldink, L H van den Berg
BACKGROUND AND PURPOSE: Previous studies, mostly case reports and uncontrolled studies, provide a low level of evidence for the hypothesized link between Lyme disease and amyotrophic lateral sclerosis (ALS). In order to make evidence-based recommendations regarding testing for Borrelia burgdorferi antibodies in the diagnostic work-up for ALS, the objective of this study was to explore the evidence for an association between these antibodies and ALS in a case-control design including age-, gender- and residency-matched controls...
January 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27987068/single-site-robotic-assisted-apical-lateral-suspension-ss-r-als-for-advanced-pelvic-organ-prolapse-first-case-reported
#7
Andrea Giannini, Eleonora Russo, Paolo Mannella, Tommaso Simoncini
While single-port laparoscopy for gynecological surgery is technically challenging, the Da Vinci Single-Site(®) robotic surgery platform may help to overcome some of the difficulties of this rapidly evolving technique. The authors of this article present the first case of single-incision, robotic apical lateral suspension (R-ALS) using this device in pelvic organ prolapse (POP) surgery. A 71-year-old female with advanced symptomatic anterior and apical prolapse (POP-Q stage III/III) was operated with a single-site approach using the Da Vinci Single-Site(®) robotic surgery device...
December 17, 2016: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/27980528/uterine-angioleiomyoma-a-rare-variant-of-uterine-leiomyoma-review-of-literature-and-case-reports
#8
Dobrosława L Sikora-Szczęśniak
INTRODUCTION: Uterine angioleiomyoma (AL) is an extremely rare variant of uterine leiomyoma. It is composed of smooth muscle cells and thick-walled blood vessels. Angioleiomyoma usually occurs in middle-aged women, 40-60 years old. Aim of the study was to review of literature research reports on uterine AL. Discussion of nine case reports of uterine AL in the patients operated on in our ward. MATERIAL AND METHODS: The paper presents analysis of accessible research reports on uterine AL, and medical records of the patients operated on in our ward...
November 2016: Przeglad Menopauzalny, Menopause Review
https://www.readbyqxmd.com/read/27897242/cortical-synaptic-and-dendritic-spine-abnormalities-in-a-presymptomatic-tdp-43-model-of-amyotrophic-lateral-sclerosis
#9
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
#10
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...
January 1, 2017: 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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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