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https://www.readbyqxmd.com/read/28777965/metals-and-neurodegenerative-diseases-a-systematic-review
#1
REVIEW
Calogero Edoardo Cicero, Giovanni Mostile, Rosario Vasta, Venerando Rapisarda, Salvatore Santo Signorelli, Margherita Ferrante, Mario Zappia, Alessandra Nicoletti
Neurodegenerative processes encompass a large variety of diseases with different pathological patterns and clinical presentation such as Amyotrophic Lateral Sclerosis (ALS), Alzheimer Disease (AD) and Parkinson's disease (PD). Genetic mutations have a known causative role, but the majority of cases are likely to be probably caused by a complex gene-environment interaction. Exposure to metals has been hypothesized to increase oxidative stress in brain cells leading to cell death and neurodegeneration. Neurotoxicity of metals has been demonstrated by several in vitro and in vivo experimental studies and it is likely that each metal could be toxic through specific pathways...
August 1, 2017: Environmental Research
https://www.readbyqxmd.com/read/28745069/a-case-series-of-pls-patients-with-frontotemporal-dementia-and-overview-of-the-literature
#2
Bálint S de Vries, Laura M M Rustemeijer, Anneke J van der Kooi, Joost Raaphorst, Carin D Schröder, Tanja C W Nijboer, Jeroen Hendrikse, Jan H Veldink, Leonard H van den Berg, Michael A van Es
OBJECTIVE: Primary lateral sclerosis (PLS) is a rare form of motor neuron disease characterised by UMN degeneration leading to slowly progressive spasticity. Whether it is a separate disease or a subtype of ALS has been debated. In ALS comorbid frontotemporal dementia (FTD) is frequently seen (±15%). However, cognitive and behavioural changes are generally not considered to be a part of PLS. METHODS: To report the clinical findings and frequency of PLS patients that developed FTD in a referral-based cohort and provide an overview of the literature...
July 26, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28719997/the-benefit-of-evolving-multidisciplinary-care-in-als-a-diagnostic-cohort-survival-comparison
#3
Sarah Martin, Emma Trevor-Jones, Sabyha Khan, Keelan Shaw, Deepti Marchment, Anna Kulka, Catherine E Ellis, Rachel Burman, Martin R Turner, Liam Carroll, Leah Mursaleen, P Nigel Leigh, Christopher E Shaw, Neil Pearce, Daniel Stahl, Ammar Al-Chalabi
BACKGROUND: Care for people with amyotrophic lateral sclerosis (ALS) has altered at King's College Hospital over the last 20 years. The clinic has been a multidisciplinary, specialist, tertiary referral centre since 1995 with a large team with integrated palliative and respiratory care since 2006. We hypothesised that these changes would improve survival. METHODS: In this retrospective observational study, patients diagnosed with El Escorial definite, probable and possible ALS between 1995-1998 and 2008-2011 were followed up...
July 18, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://www.readbyqxmd.com/read/28717666/whole-exome-sequencing-and-dna-methylation-analysis-in-a-clinical-amyotrophic-lateral-sclerosis-cohort
#4
Fleur C Garton, Beben Benyamin, Qiongyi Zhao, Zhijun Liu, Jacob Gratten, Anjali K Henders, Zong-Hong Zhang, Janette Edson, Sarah Furlong, Sarah Morgan, Susan Heggie, Kathryn Thorpe, Casey Pfluger, Karen A Mather, Perminder S Sachdev, Allan F McRae, Matthew R Robinson, Sonia Shah, Peter M Visscher, Marie Mangelsdorf, Robert D Henderson, Naomi R Wray, Pamela A McCombe
BACKGROUND: Gene discovery has provided remarkable biological insights into amyotrophic lateral sclerosis (ALS). One challenge for clinical application of genetic testing is critical evaluation of the significance of reported variants. METHODS: We use whole exome sequencing (WES) to develop a clinically relevant approach to identify a subset of ALS patients harboring likely pathogenic mutations. In parallel, we assess if DNA methylation can be used to screen for pathogenicity of novel variants since a methylation signature has been shown to associate with the pathogenic C9orf72 expansion, but has not been explored for other ALS mutations...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716533/novel-ubqln2-mutations-linked-to-amyotrophic-lateral-sclerosis-and-atypical-hereditary-spastic-paraplegia-phenotype-through-defective-hsp70-mediated-proteolysis
#5
Elisa Teyssou, Laura Chartier, Maria-Del-Mar Amador, Roselina Lam, Géraldine Lautrette, Marie Nicol, Selma Machat, Sandra Da Barroca, Carine Moigneu, Mathilde Mairey, Thierry Larmonier, Safaa Saker, Christelle Dussert, Sylvie Forlani, Bertrand Fontaine, Danielle Seilhean, Delphine Bohl, Séverine Boillée, Vincent Meininger, Philippe Couratier, François Salachas, Giovanni Stevanin, Stéphanie Millecamps
Mutations in UBQLN2 have been associated with rare cases of X-linked juvenile and adult forms of amyotrophic lateral sclerosis (ALS) and ALS linked to frontotemporal dementia (FTD). Here, we report 1 known (c.1489C>T, p.Pro497Ser, P497S) and 3 novel (c.1481C>T, p.Pro494Leu, P494L; c.1498C>T, p.Pro500Ser, P500S; and c.1516C>G, p.Pro506Ala, P506A) missense mutations in the PXX domain of UBQLN2 in familial motor neuron diseases including ALS and spastic paraplegia (SP). A novel missense mutation (c...
June 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28711998/medical-history-of-chemotherapy-or-immunosuppressive-drug-treatment-and-risk-of-amyotrophic-lateral-sclerosis-als
#6
Thomas Kuczmarski, Elijah W Stommel, Kristen Riley, Rup Tandan, Vinay Chaudhry, Lora Clawson, Tracie A Caller, Patricia L Henegan, Dominic N Facciponte, Walter G Bradley, Angeline S Andrew
A recent population-based analysis demonstrated lower risk of the lethal degenerative neuromuscular disease, amyotrophic lateral sclerosis (ALS) associated with history of the use of 'antineoplastic agents' and 'immunosuppressants'. To see if this finding was generalizable to other ALS cohorts, we examined associations between use of these agents and ALS risk in an independent case-control study of n = 414 ALS patients and n = 361 controls in an Eastern US population. Controls were sampled from the general population and among non-neurodegenerative disease patients...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28696262/human-serine-racemase-structure-activity-relationship-studies-provide-mechanistic-insight-and-point-to-position-84-as-a-hotspot-for-%C3%AE-elimination-function
#7
David L Nelson, Gregory A Applegate, Matthew L Beio, Danielle L Graham, David B Berkowitz
There is currently great interest in human serine racemase (hSR), the enzyme responsible for producing the NMDA co-agonist D-serine. Reported correlation of D-serine levels with disorders including Alzheimers disease, ALS and ischemic brain damage (elevated D-serine), and schizophrenia (reduced D-serine) has further piqued this interest. Reported is a structure/activity relationships (SAR) study of position-(S)84, the putative re-face base. In the most extreme case of functional reprogramming, the S84D mutant displays a dramatic reversal of β-elimination substrate specificity in favor of L-serine over the normally preferred L-serine-O-sulfate (L-SOS; ~1200-fold change in kcat/Km ratios) and L-threo-β-hydroxyaspartate (L-THA; ~5000-fold change in kcat/Km ratios) alternative substrates...
July 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28692730/secular-trends-of-amyotrophic-lateral-sclerosis-the-piemonte-and-valle-d-aosta-register
#8
Adriano Chiò, Gabriele Mora, Cristina Moglia, Umberto Manera, Antonio Canosa, Stefania Cammarosano, Antonio Ilardi, Davide Bertuzzo, Enrica Bersano, Paolo Cugnasco, Maurizio Grassano, Fabrizio Pisano, Letizia Mazzini, Andrea Calvo
Importance: This study reports the long-term epidemiologic trends of amyotrophic lateral sclerosis (ALS) based on a prospective register. Objective: To examine the 20-year epidemiologic trends of ALS in the Piemonte and Valle d'Aosta regions of Italy. Design, Setting, and Participants: The Piemonte and Valle d'Aosta Register for ALS (PARALS) is an epidemiologic prospective register that covers 2 Italian regions (population of 4 476 931 inhabitants according to the 2011 census) from January 1, 1995, through December 31, 2014...
July 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28680046/computing-disease-linked-sod1-mutations-deciphering-protein-stability-and-patient-phenotype-relations
#9
Vijay Kumar, Safikur Rahman, Hani Choudhry, Mazin A Zamzami, Mohammad Sarwar Jamal, Asimul Islam, Faizan Ahmad, Md Imtaiyaz Hassan
Protein stability is a requisite in the field of biotechnology, cell biology and drug design. To understand effects of amino acid substitutions, computational models are preferred to save time and expenses. As a systemically important, highly abundant, stable protein, the knowledge of Cu/Zn Superoxide dismutase1 (SOD1) is important, making it a suitable test case for genotype-phenotype correlation in understanding ALS. Here, we report performance of eight protein stability calculators (PoPMuSiC 3.1, I-Mutant 2...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641283/-healing-of-amyotrophic-lateral-sclerosis-a-case-report
#10
Inge Mangelsdorf, Harald Walach, Joachim Mutter
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a devastating disease leading to death within 3-5 years in most cases. New approaches to treating this disease are needed. Here, we report a successful therapy. CASE REPORT: In a 49-year-old male patient suffering from muscle weakness and fasciculations, progressive muscular atrophy, a variant of ALS, was diagnosed after extensive examinations ruling out other diseases. Due to supposed mercury exposure from residual amalgam, the patient's teeth were restored...
2017: Complementary Medicine Research
https://www.readbyqxmd.com/read/28597677/endoscopic-management-of-afferent-loop-syndrome-caused-by-enteroliths-and-anastomotic-stricture-a-case-report
#11
Ana Rita Alves, Nuno Almeida, Margarida Ferreira, Luís Tomé
Afferent loop syndrome (ALS) is a rare complication of Billroth-II gastrojejunostomy. Causes of afferent loop obstruction include adhesions, internal hernias, intestinal strictures or malignancy. Obstruction caused by enteroliths is rare and usually requires surgery. We present the case of a 90-year-old man with a Billroth-II performed 50 years earlier and three acute pancreatitis. He presented with acute abdominal pain, without signs of pancreatitis. Upper digestive endoscopy revealed a punctiform anastomotic stricture of the afferent loop...
June 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28588549/amyotrophic-lateral-sclerosis-and-myasthenia-gravis-overlap-syndrome-a-review-of-two-cases-and-the-associated-literature
#12
Hongfei Tai, Liying Cui, Yuzhou Guan, Mingsheng Liu, Xiaoguang Li, Yan Huang, Jing Yuan, Dongchao Shen, Dawei Li, Feifei Zhai
OBJECTIVE: To describe the characteristics of patients with amyotrophic lateral sclerosis (ALS) and myasthenia gravis (MG) overlap syndrome and explore the relationship between the two diseases. METHODS: We conducted a search of medical records at Peking Union Medical University Hospital from 1983 to 2015 for coexistence of ALS and MG and searched the PubMed database for all literature describing ALS and MG overlap syndrome published through December 2016. We analyzed the clinical and neurophysiological characteristics of patients by groups according to strict diagnostic criteria...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28522369/electroencephalographic-monitoring-during-sevoflurane-anaesthesia-in-an-amyotrophic-lateral-sclerosis-patient-with-locked-in-state
#13
Kazuko Hayashi, Ryuhei Araki, Akiko Tanaka
Recently, the cognitive abilities of patients with amyotrophic lateral sclerosis (ALS) have been found to be impaired along with the neurodegeneration of motor neurons. Electroencephalography (EEG) of end-stage ALS patients has reportedly shown specific features based on neuronal network modulations, differing from EEG of other patients with cognitive failure and dementia. However, EEG of end-stage ALS patients during anaesthesia has not yet been reported. A 64-year-old male ALS patient with locked-in state (LIS), supported by tracheostomy positive-pressure ventilation (TPPV) and enteral nourishment for 9years, underwent scheduled general anaesthesia for repair of a fractured mandible...
September 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28445628/characterization-of-four-latin-american-families-confirms-previous-findings-and-reveals-novel-features-of-acid-labile-subunit-deficiency
#14
Paula A Scaglia, Ana C Keselman, Débora Braslavsky, Lucía C Martucci, Liliana M Karabatas, Sabina Domené, Mariana L Gutiérrez, María G Ballerini, María G Ropelato, Angela Spinola-Castro, Adriana A Siviero-Miachon, Juliana Saito Tartuci, María Sol Rodríguez Azrak, Rodolfo A Rey, Héctor G Jasper, Ignacio Bergadá, Horacio M Domené
OBJECTIVE: Acid-labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in IGF-I and IGFBP-3 levels associated with mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and their families. DESIGN: Auxological data, biochemical and genetic studies were performed in four children diagnosed with ACLSD and all available relatives...
September 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28444311/expression-of-als-ftd-linked-mutant-ccnf-in-zebrafish-leads-to-increased-cell-death-in-the-spinal-cord-and-an-aberrant-motor-phenotype
#15
Alison L Hogan, Emily K Don, Stephanie L Rayner, Albert Lee, Angela S Laird, Maxinne Watchon, Claire Winnick, Ingrid S Tarr, Marco Morsch, Jennifer A Fifita, Serene Gwee, Isabel Formella, Elinor Hortle, Kristy Yuan, Mark P Molloy, Kelly L Williams, Garth A Nicholson, Roger S Chung, Ian P Blair, Nicholas J Cole
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive, fatal neurodegenerative disease characterised by the death of upper and lower motor neurons. Approximately 10% of cases have a known family history of ALS and disease-linked mutations in multiple genes have been identified. ALS-linked mutations in CCNF were recently reported, however the pathogenic mechanisms associated with these mutations are yet to be established. To investigate possible disease mechanisms, we developed in vitro and in vivo models based on an ALS-linked missense mutation in CCNF...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28443187/treatment-with-penicillin-g-and-hydrocortisone-reduces-als-associated-symptoms-a-case-series-of-three-patients
#16
Bert Tuk, Harmen Jousma, Pieter J Gaillard
Three male Caucasian patients with ALS were admitted to the hospital due to progressive dysphagia and dysarthria. During two 21-day courses of penicillin G and hydrocortisone, these patients' dysphagia and dysarthria resolved. The patient's other ALS-associated symptoms also improved, including respiratory function, coordination, walking, and muscle strength. This is the first report of a treatment with a protocol for treating dysphagia, dysarthria, respiratory depression and other ALS-related symptoms. Furthermore, the observations are consistent with the recent hypothesis that the successful treatment of ALS symptoms with this treatment course in six patients with syphilitic ALS was not directly due to the treatment of syphilis; but that the administered penicillin G and/or hydrocortisone treated these patients' ALS symptoms due the off-target pharmacological activity of penicillin G and/or hydrocortisone...
2017: F1000Research
https://www.readbyqxmd.com/read/28426258/improvements-in-out-of-hospital-cardiac-arrest-survival-from-1998-to-2013
#17
Yutaka Yamaguchi, Jeff A Woodin, Koichiro Gibo, Dana M Zive, Mohamud R Daya
OBJECTIVES: Out-of-hospital cardiac arrest (OHCA) remains a major public health burden. Aggregate OHCA survival to hospital discharge has reportedly remained unchanged at 7.6% for almost 30 years from 1970 to 2008. We examined the trends in adult OHCA survival over a 16-year period from 1998 to 2013 within a single EMS agency. METHODS: Observational cohort study of adult OHCA patients treated by Tualatin Valley Fire & Rescue (TVF&R) from 1998 to 2013. This is an ALS first response fire agency that maintains an active Utstein style cardiac arrest registry and serves a population of approximately 450,000 in 9 incorporated cities in Oregon...
April 20, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28421301/multiple-sclerosis-and-amyotrophic-lateral-sclerosis-a-human-leukocyte-antigen-challenge
#18
Vincenzo Dattola, Fausto Famà, Margherita Russo, Rocco Salvatore Calabrò, Anna Lisa Logiudice, Maria Grazia Grasso, Francesco Patti, Maria Buccafusca
Multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) are two different central nervous system pathology that, according to the most accredited hypotheses, recognize a different etiopathogenesis. The simultaneous occurrence of MS and ALS is quite unusual. To our knowledge, only three cases have been so far described by clinical, laboratory, and post-mortem studies. We report four new cases of this peculiar combination that have been observed and are herein described, included their human leukocyte antigen (HLA) profile studies...
August 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28414559/evaluating-the-cost-and-utility-of-mandating-schools-to-stock-epinephrine-auto-injectors
#19
Chelsea Steffens, Benjamin Clement, William Fales, Ahel El Haj Chehade, Kevin Putman, Robert Swor
BACKGROUND: The Michigan Legislature mandated that all public schools stock epinephrine auto-injectors (EAIs). A minimal amount is known regarding the incremental value of EAIs in schools. Our primary objective was to describe the frequency of administration of epinephrine for EMS patients with acute allergic reactions in public schools. Our secondary objective was to estimate the cost of mandating public schools to stock EAIs. METHODS: We performed a retrospective cohort study of EMS cases with an impression of allergic reaction and who received epinephrine recorded in the 2014 Michigan EMS Information System (MI-EMSIS)...
April 17, 2017: Prehospital Emergency Care
https://www.readbyqxmd.com/read/28387141/nationwide-incidence-of-motor-neuron-disease-using-the-french-health-insurance-information-system-database
#20
Sofiane Kab, Frédéric Moisan, Pierre-Marie Preux, Benoît Marin, Alexis Elbaz
OBJECTIVE: There are no estimates of the nationwide incidence of motor neuron disease (MND) in France. We used the French health insurance information system to identify incident MND cases (2012-2014), and compared incidence figures to those from three external sources. METHODS: We identified incident MND cases (2012-2014) based on three data sources (riluzole claims, hospitalisation records, long-term chronic disease benefits), and computed MND incidence by age, gender, and geographic region...
April 7, 2017: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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