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https://www.readbyqxmd.com/read/29049464/clustering-of-neuropsychiatric-disease-in-first-degree-and-second-degree-relatives-of-patients-with-amyotrophic-lateral-sclerosis
#1
Margaret O'Brien, Tom Burke, Mark Heverin, Alice Vajda, Russell McLaughlin, John Gibbons, Susan Byrne, Marta Pinto-Grau, Marwa Elamin, Niall Pender, Orla Hardiman
Importance: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative condition primarily involving the motor system. There is increasing epidemiologic evidence of an association between ALS and a wider spectrum of neurodegenerative and neuropsychiatric disorders among family members, including schizophrenia and psychotic illness and suicidal behavior. Objective: To examine the frequency and range of neuropsychiatric conditions that occur within individual first-degree and second-degree relatives of patients with ALS...
October 16, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29021725/prehospital-hydroxocobalamin-for-inhalation-injury-and-cyanide-toxicity-in-the-united-states-analysis-of-a-database-and-survey-of-ems-providers
#2
M V Purvis, H Rooks, J Young Lee, S Longerich, S A Kahn
Prehospital use of hydroxocobalamin as an antidote for cyanide toxicity, a serious complication of smoke inhalation, has yet to be universally adopted in the United States though its efficacy and safety have been demonstrated since 2006. The purpose of this study was to characterize practices of prehospital hydroxocobalamin administration via a survey of emergency medical services (EMS) and to report a case series from an EMS database to track use of hydroxocobalamin. The Fire Smoke Coalition Newsletter emailed a voluntary survey to EMS subscribers regarding hydroxocobalamin use...
June 30, 2017: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/28952073/cysteine-to-serine-conversion-at-111th-position-renders-the-disaggregation-and-retains-the-stabilization-of-detrimental-sod1-a4v-mutant-against-amyotrophic-lateral-sclerosis-in-human-a-discrete-molecular-dynamics-study
#3
E Srinivasan, R Rajasekaran
Protein aggregation is a hallmark of various neurodegenerative disorders, such as amyotrophic lateral sclerosis (ALS) in humans. Mutations in Cu/Zn superoxide dismutase (SOD1) protein were found to be a prominent cause behind the majority of the familial ALS cases with abnormal protein aggregates. Herein, we report the biophysical characterization of the beneficial mutation C111S that stabilizes the SOD1 harboring A4V mutation, one of the most lethal diseases causing mutant that leads to protein destabilization and aggregation...
September 26, 2017: Cell Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28931804/cross-ethnic-meta-analysis-identifies-association-of-the-gpx3-tnip1-locus-with-amyotrophic-lateral-sclerosis
#4
Beben Benyamin, Ji He, Qiongyi Zhao, Jacob Gratten, Fleur Garton, Paul J Leo, Zhijun Liu, Marie Mangelsdorf, Ammar Al-Chalabi, Lisa Anderson, Timothy J Butler, Lu Chen, Xiang-Ding Chen, Katie Cremin, Hong-Weng Deng, Matthew Devine, Janette Edson, Jennifer A Fifita, Sarah Furlong, Ying-Ying Han, Jessica Harris, Anjali K Henders, Rosalind L Jeffree, Zi-Bing Jin, Zhongshan Li, Ting Li, Mengmeng Li, Yong Lin, Xiaolu Liu, Mhairi Marshall, Emily P McCann, Bryan J Mowry, Shyuan T Ngo, Roger Pamphlett, Shu Ran, David C Reutens, Dominic B Rowe, Perminder Sachdev, Sonia Shah, Sharon Song, Li-Jun Tan, Lu Tang, Leonard H van den Berg, Wouter van Rheenen, Jan H Veldink, Robyn H Wallace, Lawrie Wheeler, Kelly L Williams, Jinyu Wu, Xin Wu, Jian Yang, Weihua Yue, Zong-Hong Zhang, Dai Zhang, Peter G Noakes, Ian P Blair, Robert D Henderson, Pamela A McCombe, Peter M Visscher, Huji Xu, Perry F Bartlett, Matthew A Brown, Naomi R Wray, Dongsheng Fan
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls...
September 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#5
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28913488/bilateral-thoracic-paravertebral-nerve-blocks-for-placement-of-percutaneous-radiologic-gastrostomy-in-patients-with-amyotrophic-lateral-sclerosis-a-case-series
#6
Arun Kalava, Steven Clendenen, J Mark McKinney, Elird Bojaxhi, Roy A Greengrass
BACKGROUND AND AIMS: To assess the efficacy of bilateral thoracic paravertebral nerve blocks (PVB) in providing procedural anesthesia and post-procedural analgesia for placement of percutaneous radiologic gastrostomy tubes (PRG) in patients with amyotrophic lateral sclerosis (ALS). METHODS: We prospectively observed 10 patients with ALS scheduled for PRG placement that had bilateral thoracic PVBs at thoracic 7, 8, and 9 levels with administration of a mixture of 3 mL of 1% ropivacaine, 0...
October 2016: Rom J Anaesth Intensive Care
https://www.readbyqxmd.com/read/28890043/a-migration-case-of-kii-amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex-with-the-shortest-stay-in-the-endemic-area-and-the-longest-incubation-to-develop-the-disease
#7
Keiichiro Tsunoda, Toru Yamashita, Hitoshi Shimada, Emi Nomura, Yoshiaki Takahashi, Jingwei Shang, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Makoto Higuchi, Tetsuya Suhara, Yasumasa Kokubo, Shigeki Kuzuhara, Koji Abe
Amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC) is an endemic disease observed in the Kii peninsula, Guam, and Papua. We report a case of a 76-year old man with ALS/PDC of the Kii peninsula of Japan (Kii ALS/PDC). The patient was born and grew up in the Kii peninsula. He moved out at age three, and developed symptoms 73years later. He showed pyramidal sign, parkinsonian symptoms, and mildly impaired cognitive function. (131)I-metaiodobenzylguanidine myocardial scintigraphy showed decreased cardiac sympathetic nerve function, and dopamine transporter single photon emission computed tomography imaging showed decreased (123)I-N-ω-fluoropropyl-2β-carbomethoxy3β-(4-iodophenyl) nortropane accumulation...
September 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28834910/application-of-different-ventilator-modes-in-patients-with-amyotrophic-lateral-sclerosis-according-to-certain-clinical-situations-a-case-report
#8
Donghwi Park
RATIONALE: Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease that involves limb, axial, bulbar, and respiratory muscles. Fatigue and weakness of the respiratory muscles eventually induce respiratory insufficiency, which is one of the main causes of death in patients with ALS. In ALS patients with respiratory insufficiency, application of a ventilator is indispensable. Although there are various modes of ventilation, these modes are classified roughly into volume-controlled ventilation (VCV) and pressure-controlled ventilation (PCV)...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28777965/metals-and-neurodegenerative-diseases-a-systematic-review
#9
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...
November 2017: Environmental Research
https://www.readbyqxmd.com/read/28745069/a-case-series-of-pls-patients-with-frontotemporal-dementia-and-overview-of-the-literature
#10
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
#11
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
#12
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
#13
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
#14
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-hot-spot-for-%C3%AE-elimination-function
#15
COMPARATIVE STUDY
David L Nelson, Greg A Applegate, Matthew L Beio, Danielle L Graham, David B Berkowitz
There is currently great interest in human serine racemase, the enzyme responsible for producing the NMDA co-agonist d-serine. Reported correlation of d-serine levels with disorders including Alzheimer's disease, ALS, and ischemic brain damage (elevated d-serine) and schizophrenia (reduced d-serine) has further piqued this interest. Reported here is a structure/activity relationship study of position Ser(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 (∼1200-fold change in kcat/Km ratios) and l (l-THA; ∼5000-fold change in kcat/Km ratios) alternative substrates...
August 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28692730/secular-trends-of-amyotrophic-lateral-sclerosis-the-piemonte-and-valle-d-aosta-register
#16
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...
September 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28680046/computing-disease-linked-sod1-mutations-deciphering-protein-stability-and-patient-phenotype-relations
#17
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
#18
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
#19
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
#20
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
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