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Lou gehrig disease

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https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#1
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28641540/metallothionein-is-a-potential-therapeutic-strategy-for-amyotrophic-lateral-sclerosis
#2
Shin-Ichi Ono
Lou Gehrig's disease, a synonym of amyotrophic lateral sclerosis, is an adult-onset lethal neurodegenerative disorder. Irrespective of extensive efforts to elucidate the pathogenesis of the disease and searches for therapies, no favorable pharmacotherapeutic strategies have yet to be proposed. In a popular rodent model of ALS, G93A SOD1 mice, intracellular copper conditions were geared toward copper accumulation inside cells, resulting in an acceleration of oxidative stress and apoptotic process. Disruption of intracellular copper homeostasis was common to transgenic mice expressing human mutant SOD1s...
June 22, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28448161/peaches-for-lunch-creating-and-using-visual-variables
#3
Elizabeth Cartwright, Adam Clegg
In this article, I describe the process of systematically including nonverbal data in medical anthropology research. I demonstrate the process of visualizing and coding videotaped moments of life and show how we can analyze what is being done along with what is being said. I ground my discussion in toddler language socialization and then expand my observations to the realm of language pathologies. Aphasia from strokes, speech difficulties in neurologically based illnesses like Lou Gehrig's disease, and the variety of communication challenges that face those on the autism spectrum can all be studied in interesting ways by including precise descriptions of nonverbal actions...
April 27, 2017: Medical Anthropology
https://www.readbyqxmd.com/read/28225381/information-seeking-behavior-and-information-needs-in-patients-with-amyotrophic-lateral-sclerosis-analyzing-an-online-patient-community
#4
Juyeon Oh, Jung A Kim
A few studies have examined the specific informational needs of the population with amyotrophic lateral sclerosis. The aims of this study were to describe the information-seeking behavior and information needs of patients with amyotrophic lateral sclerosis and their families in Korea by analyzing messages from an online patient community. A total of 1047 messages from the question and answer forum of the "Lou Gehrig's Disease Network" (http://cafe.daum.net/alsfree) from January 2010 to September 2015 were collected...
February 22, 2017: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/27815397/new-strategy-that-delays-progression-of-amyotrophic-lateral-sclerosis-in-g1h-g93a-transgenic-mice-oral-administration-of-xanthine-oxidoreductase-inhibitors-that-are-not-substrates-for-the-purine-salvage-pathway
#5
Shinsuke Kato, Masako Kato, Teruo Kusano, Takeshi Nishino
Amyotrophic lateral sclerosis (ALS), Lou Gehrig's disease, is a progressive fatal neurodegenerative disease that involves both upper and lower motor neurons. We orally administered 4 xanthine oxidoreductase (XOR) inhibitors to G1H-G93A mice carrying 25 transgene copy numbers of human mutant G93A superoxide dismutase 1, from 80 days of age. Three nonpurine-analogue inhibitors (TEI-6720: Febuxostat, Y-700 and FYX-051), but not allopurinol with a purine analogue ring (pyrazolo pyrimidine ring), significantly delayed disease onset, prolonged survival and the duration of disease stages, improved clinical signs, and alleviated weight loss...
December 1, 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27780988/a-bibliometric-assessment-of-global-ice-bucket-challenge-amyotrophic-lateral-sclerosis-research
#6
Shri Ram
BACKGROUND: This study is a quantitative and qualitative assessment of the global research trends on amyotrophic lateral sclerosis (ALS) (popularly known as Ice Bucket Challenge), through related literatures retrieved from SCOPUS multidisciplinary database for the period 1974-2013. PURPOSE: This study is aimed at analyzing the literature on ALS in terms of document type, language, annual growth, productive country, journal, authors, subject, and most cited articles...
October 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27577737/dys-regulation-of-rna-mediated-gene-expression-in-motor-neuron-diseases
#7
Inês do Carmo G Golçalves, Wiebke A Rehorst, Min Jeong Kye
Recent findings indicate an important role for RNA-mediated gene expression in motor neuron diseases, including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). ALS, also known as Lou Gehrig's disease, is an adult-onset progressive neurodegenerative disorder, whereby SMA or "children's Lou Gehrig's disease" is considered a pediatric neurodevelopmental disorder. Despite the differences in genetic causes, both ALS and SMA share common phenotypes; dysfunction/loss of motor neurons that eventually leads to muscle weakness and atrophy...
August 15, 2016: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/27490513/prevalence-of-amyotrophic-lateral-sclerosis-united-states-2012-2013
#8
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...
August 5, 2016: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/27195035/juvenile-amyotrophic-lateral-sclerosis-classical-wine-glass-sign-on-magnetic-resonance-imaging
#9
Saurabh Kumar, Pallavi Aga, Aakansha Gupta, Neera Kohli
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, is a chronic degenerative neurologic disease and is characterized by the selective involvement of the motor system. Usually, patients present with upper motor neuron (UMN) and lower motor neuron compromise. Degeneration of the UMN in the cerebral cortex is one of the main pathologic changes in ALS. These changes usually affect corticospinal tracts leading to degeneration of the fibers which show characteristic hyperintensities along the tracts leading to the "wine glass sign...
January 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27191240/what-s-in-a-name-problems-facts-and-controversies-regarding-neurological-eponyms
#10
REVIEW
Hélio A G Teive, Plínio M G Lima, Francisco M B Germiniani, Renato P Munhoz
The use of eponyms in neurology remains controversial, and important questions have been raised about their appropriateness. Different approaches have been taken, with some eponyms being excluded, others replaced, and new ones being created. An example is Hallervorden-Spatz syndrome, which has been replaced by neurodegeneration with brain iron accuulatium (NBIA). Amiothoplic lateral sclerosys (ALS), for which the eponym is Charcot's disease, has been replaced in the USA by Lou Gehrig's disease. Guillain-Barré syndrome (GBS) is an eponym that is still the subject of controversy, and various different names are associated with it...
May 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27123890/announcement-amyotrophic-lateral-sclerosis-als-awareness-month-may-2016
#11
(no author information available yet)
May is Amyotrophic Lateral Sclerosis (ALS) Awareness Month. ALS, also known as Lou Gehrig's disease, is a progressive, fatal, neurodegenerative disorder of upper and lower motor neurons. The cause of ALS is not known, and no cure exists. Persons with ALS usually die within 2-5 years of diagnosis.
April 29, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/26862206/phosphatidylinositol-and-phosphatidic-acid-transport-between-the-er-and-plasma-membrane-during-plc-activation-requires-the-nir2-protein
#12
REVIEW
Yeun Ju Kim, Maria Luisa Guzman-Hernandez, Eva Wisniewski, Nicolas Echeverria, Tamas Balla
Phospholipase C (PLC)-mediated hydrolysis of the limited pool of plasma membrane (PM) phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P2] requires replenishment from a larger pool of phosphatidylinositol (PtdIns) via sequential phosphorylation by PtdIns 4-kinases and phosphatidylinositol 4-phosphate (PtdIns4P) 5-kinases. Since PtdIns is synthesized in the endoplasmic reticulum (ER) and PtdIns(4,5)P2 is generated in the PM, it has been postulated that PtdIns transfer proteins (PITPs) provide the means for this lipid transfer function...
February 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/26604922/acute-%C3%AE-n-methylamino-l-alanine-toxicity-in-a-mouse-model
#13
Maitham Ahmed Al-Sammak, Douglas G Rogers, Kyle D Hoagland
The cyanobacterial neurotoxin β-N-methylamino-L-alanine (BMAA) is considered to be an "excitotoxin," and its suggested mechanism of action is killing neurons. Long-term exposure to L-BMAA is believed to lead to neurodegenerative diseases including Parkinson's and Alzheimer's diseases and amyotrophic lateral sclerosis (Lou Gehrig's disease). Objectives of this study were to determine the presumptive median lethal dose (LD50), the Lowest-Observed-Adverse-Effect Level (LOAEL), and histopathologic lesions caused by the naturally occurring BMAA isomer, L-BMAA, in mice...
2015: Journal of Toxicology
https://www.readbyqxmd.com/read/26409693/comprehensive-rehabilitative-care-across-the-spectrum-of-amyotrophic-lateral-sclerosis
#14
REVIEW
Sabrina Paganoni, Chafic Karam, Nanette Joyce, Richard Bedlack, Gregory T Carter
BACKGROUND: Amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) is a neurodegenerative disease that results in progressive muscle weakness and wasting. There is no known cure and the disease is uniformly fatal. PURPOSE: This review discusses current concepts in ALS care, from breaking the diagnosis to end-of-life care. People with ALS have several multidisciplinary needs due to a complex and dynamic disease process. They benefit from rehabilitation interventions that are individualized and have the goal of optimizing independence, function, and safety...
2015: NeuroRehabilitation
https://www.readbyqxmd.com/read/26223903/muscle-bone-crosstalk-in-amyotrophic-lateral-sclerosis
#15
REVIEW
Jingsong Zhou, Jianxun Yi, Lynda Bonewald
Amyotrophic lateral sclerosis (ALS), also called Lou Gehrig's disease, is a fatal neuromuscular disorder characterized by degeneration of motor neurons and by skeletal muscle atrophy. Although the death of motor neurons is a pathological hallmark of ALS, the potential role of other organs in disease progression remains to be elucidated. Skeletal muscle and bone are the two largest organs in the human body. They are responsible not only for locomotion but also for maintaining whole body normal metabolism and homeostasis...
October 2015: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/25983632/enhanced-tethered-flight-duration-and-locomotor-activity-by-overexpression-of-the-human-gene-sod1-in-drosophila-motorneurons
#16
Agavni Petrosyan, I-Hui Hsieh, John P Phillips, Kourosh Saberi
Mutation of the human gene superoxide dismutase (hSOD1) is associated with the fatal neurodegenerative disease familial amyotrophic lateral sclerosis (Lou Gehrig's disease). Selective overexpression of hSOD1 in Drosophila motorneurons increases lifespan to 140% of normal. The current study was designed to determine resistance to lifespan decline and failure of sensorimotor functions by overexpressing hSOD1 in Drosophila's motorneurons. First, we measured the ability to maintain continuous flight and wingbeat frequency (WBF) as a function of age (5 to 50 days)...
March 2015: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/25845840/is-innate-immunity-and-inflammasomes-involved-in-pathogenesis-of-amyotrophic-lateral-sclerosis-als
#17
REVIEW
Caroline M O Volpe, Jose A Nogueira-Machado
Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig's disease is an axonopathy with adultonset, progressive and irreversible degeneration of upper and lower motor neurons. Around 90% of ALS is considered as sporadic ALS (sALS) without apparent genetic cause while in the familial type of ALS (fALS) at least one affected blood relative needs to be identified. Both sALS and fALS show similar progression and pathological profile. Biochemical and immunological roles have been reported for both types of ALS. It has been suggested that mutation in SOD1 gene would be responsible for the oxidative stress and neurotoxicity...
2015: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
https://www.readbyqxmd.com/read/25635964/masticatory-muscle-pain-and-progressive-mouth-opening-limitation-caused-by-amyotrophic-lateral-sclerosis-a-case-report
#18
Kang Mi Pang, Ji Woon Park
This article reports a case of masticatory muscle pain and progressive limited mouth opening secondary to amyotrophic lateral sclerosis (ALS), popularly known as Lou Gehrig's disease. The symptoms were first mistaken as those of temporomandibular disorders, before fatty degeneration of all masticatory muscles were discovered on magnetic resonance imaging (MRI). ALS should be considered in the differential diagnosis process when the patient presents with longstanding progressive mouth opening limitation associated with pain...
2015: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/25626050/lou-gehrig-s-disease
#19
Michael Collins
No abstract text is available yet for this article.
January 27, 2015: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/25519934/dual-effect-of-oxidative-stress-on-leukemia-cancer-induction-and-treatment
#20
REVIEW
Udensi K Udensi, Paul B Tchounwou
Oxidative stress (OS) has been characterized by an imbalance between the production of reactive oxygen species (ROS) and a biological system's ability to repair oxidative damage or to neutralize the reactive intermediates including peroxides and free radicals. High ROS production has been associated with significant decrease in antioxidant defense mechanisms leading to protein, lipid and DNA damage and subsequent disruption of cellular functions. In humans, OS has been reported to play a role in the pathogenesis of neurodegenerative diseases such as Alzheimer's disease, Huntington's disease, Lou Gehrig's disease, multiple sclerosis and Parkinson's disease, as well as atherosclerosis, autism, cancer, heart failure, and myocardial infarction...
2014: Journal of Experimental & Clinical Cancer Research: CR
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