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ALS Therapy

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https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#1
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29204783/the-impact-of-rehabilitative-interventions-on-quality-of-life-a-qualitative-evidence-synthesis-of-personal-experiences-of-individuals-with-amyotrophic-lateral-sclerosis
#2
REVIEW
Ammarah Y Soofi, Vanina Dal Bello-Haas, Michelle E Kho, Lori Letts
BACKGROUND: The nature of amyotrophic lateral sclerosis (ALS) is progressive and degenerative, thus influencing individuals physically, emotionally, and socially. A broad review of qualitative studies that describe the personal experiences of people with ALS with physiotherapy, occupational therapy and speech and language pathology interventions, and how those affect QoL is warranted. PURPOSE: This study synthesizes qualitative research regarding the potential that rehabilitation interventions have to maintain and/or improve QoL from the perspective of people with ALS...
December 4, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/29170628/targeted-genetic-screen-in-amyotrophic-lateral-sclerosis-reveals-novel-genetic-variants-with-synergistic-effect-on-clinical-phenotype
#3
Johnathan Cooper-Knock, Henry Robins, Isabell Niedermoser, Matthew Wyles, Paul R Heath, Adrian Higginbottom, Theresa Walsh, Mbombe Kazoka, Paul G Ince, Guillaume M Hautbergue, Christopher J McDermott, Janine Kirby, Pamela J Shaw
Amyotrophic lateral sclerosis (ALS) is underpinned by an oligogenic rare variant architecture. Identified genetic variants of ALS include RNA-binding proteins containing prion-like domains (PrLDs). We hypothesized that screening genes encoding additional similar proteins will yield novel genetic causes of ALS. The most common genetic variant of ALS patients is a G4C2-repeat expansion within C9ORF72. We have shown that G4C2-repeat RNA sequesters RNA-binding proteins. A logical consequence of this is that loss-of-function mutations in G4C2-binding partners might contribute to ALS pathogenesis independently of and/or synergistically with C9ORF72 expansions...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162476/prevention-and-treatment-of-respiratory-viral-infections-presentations-on-antivirals-traditional-therapies-and-host-directed-interventions-at-the-5th-isirv-antiviral-group-conference
#4
Jennifer L McKimm-Breschkin, Shibo Jiang, David S Hui, John H Beigel, Elena A Govorkova, Nelson Lee
The International Society for Influenza and other Respiratory Virus Diseases held its 5th Antiviral Group (isirv-AVG) Conference in Shanghai, China, in conjunction with the Shanghai Public Health Center and Fudan University from 14-16 June, 2017. The three-day programme encompassed presentations on some of the clinical features, management, immune responses and virology of respiratory infections, including influenza A(H1N1)pdm09 and A(H7N9) viruses, MERS-CoV, SARS-CoV, adenovirus Type 80, enterovirus D68, metapneumovirus and respiratory syncytial virus (RSV)...
November 18, 2017: Antiviral Research
https://www.readbyqxmd.com/read/29159848/speech-deterioration-in-amyotrophic-lateral-sclerosis-als-after-manifestation-of-bulbar-symptoms
#5
Tanja Makkonen, Hanna Ruottinen, Riitta Puhto, Mika Helminen, Johanna Palmio
BACKGROUND: The symptoms and their progression in amyotrophic lateral sclerosis (ALS) are typically studied after the diagnosis has been confirmed. However, many people with ALS already have severe dysarthria and loss of adequate speech at the time of diagnosis. Speech-and-language therapy interventions should be targeted timely based on communicative need in ALS. AIMS: To investigate how long natural speech will remain functional and to identify the changes in the speech of persons with ALS...
November 21, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29154076/multiple-intracerebroventricular-injections-of-human-umbilical-cord-mesenchymal-stem-cells-delay-motor-neurons-loss-but-not-disease-progression-of-sod1g93a-mice
#6
Francesca Sironi, Antonio Vallarola, Martina Bruna Violatto, Laura Talamini, Mattia Freschi, Roberta De Gioia, Chiara Capelli, Azzurra Agostini, Davide Moscatelli, Massimo Tortarolo, Paolo Bigini, Martino Introna, Caterina Bendotti
Stem cell therapy is considered a promising approach in the treatment of amyotrophic lateral sclerosis (ALS) and mesenchymal stem cells (MSCs) seem to be the most effective in ALS animal models. The umbilical cord (UC) is a source of highly proliferating fetal MSCs, more easily collectable than other MSCs. Recently we demonstrated that human (h) UC-MSCs, double labeled with fluorescent nanoparticles and Hoechst-33258 and transplanted intracerebroventricularly (ICV) into SOD1G93A transgenic mice, partially migrated into the spinal cord after a single injection...
November 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29149058/neurotrophic-and-neuroregenerative-effects-of-gh-igf1
#7
Vittorio Emanuele Bianchi, Vittorio Locatelli, Laura Rizzi
INTRODUCTION: Human neurodegenerative diseases increase progressively with age and present a high social and economic burden. Growth hormone (GH) and insulin-like growth factor-1 (IGF-1) are both growth factors exerting trophic effects on neuronal regeneration in the central nervous system (CNS) and peripheral nervous system (PNS). GH and IGF-1 stimulate protein synthesis in neurons, glia, oligodendrocytes, and Schwann cells, and favor neuronal survival, inhibiting apoptosis. This study aims to evaluate the effect of GH and IGF-1 on neurons, and their possible therapeutic clinical applications on neuron regeneration in human subjects...
November 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29139100/-guidelines-for-non-invasive-and-invasive-home-mechanical-ventilation-for-treatment-of-chronic-respiratory-failure-update-2017
#8
W Windisch, M Dreher, J Geiseler, K Siemon, J Brambring, D Dellweg, B Grolle, S Hirschfeld, T Köhnlein, U Mellies, S Rosseau, B Schönhofer, B Schucher, A Schütz, H Sitter, S Stieglitz, J Storre, M Winterholler, P Young, S Walterspacher
Today, invasive and non-invasive home mechanical ventilation have become a well-established treatment option. Consequently, in 2010 the German Society of Pneumology and Mechanical Ventilation (DGP) has leadingly published the guidelines on "Non-Invasive and Invasive Mechanical Ventilation for Treatment of Chronic Respiratory Failure". However, continuing technical evolutions, new scientific insights, and health care developments require an extensive revision of the guidelines.For this reason, the updated guidelines are now published...
November 2017: Pneumologie
https://www.readbyqxmd.com/read/29132389/advances-challenges-and-future-directions-for-stem-cell-therapy-in-amyotrophic-lateral-sclerosis
#9
REVIEW
Yuri Ciervo, Ke Ning, Xu Jun, Pamela J Shaw, Richard J Mead
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition where loss of motor neurons within the brain and spinal cord leads to muscle atrophy, weakness, paralysis and ultimately death within 3-5 years from onset of symptoms. The specific molecular mechanisms underlying the disease pathology are not fully understood and neuroprotective treatment options are minimally effective. In recent years, stem cell transplantation as a new therapy for ALS patients has been extensively investigated, becoming an intense and debated field of study...
November 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29114200/neuroprotective-potential-of-cell-based-therapies-in-als-from-bench-to-bedside
#10
REVIEW
Serhiy Forostyak, Eva Sykova
Motor neurons (MN) degeneration is a main feature of amyotrophic lateral sclerosis (ALS), a neurological disorder with a progressive course. The diagnosis of ALS is essentially a clinical one. Most common symptoms include a gradual neurological deterioration that reflect the impairment and subsequent loss of muscle functions. Up-to-date ALS has no therapy that would prevent or cure a disease. Modern therapeutic strategies comprise of neuroprotective treatment focused on antiglutamatergic, antioxidant, antiapoptotic, and anti-inflammatory molecules...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29078263/clinical-research-on-traditional-chinese-medicine-compounds-and-their-preparations-for-amyotrophic-lateral-sclerosis
#11
REVIEW
Jiayi Zhu, Lan Shen, Xiao Lin, Yanlong Hong, Yi Feng
PURPOSE: Amyotrophic lateral sclerosis (ALS) is a chronic, fatal neurodegenerative disease which leads to progressive muscle atrophy and paralysis. In order to summarize the characteristics of Traditional Chinese Medicine compounds and their preparations in the prevention and treatment of ALS through analyzing the mechanism, action site, and symptoms according to effective clinical research. METHODS: We searched ALS, motor neuron disease, chemical drugs, herbal medicine, Chinese medicine, Traditional Chinese Medicine (TCM), and various combinations of these terms in databases including the PudMed, Springer, Ovid, Google, China National Knowledge Infrastructure, and Wanfang databases...
October 19, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29046784/the-role-of-gene-variants-in-the-pathogenesis-of-neurodegenerative-disorders-as-revealed-by-next-generation-sequencing-studies-a-review
#12
REVIEW
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29045376/drug-therapy-on-the-treatment-trail-for-als
#13
Andrew Scott
No abstract text is available yet for this article.
October 18, 2017: Nature
https://www.readbyqxmd.com/read/29036846/perceptions-of-sexuality-in-individuals-with-amyotrophic-lateral-sclerosis-als-and-their-treating-clinicians
#14
Mona Shahbazi, Shara Holzberg, Saeyoan Thirunavukkarasu, Gioia Ciani
INTRODUCTION: Amyotrophic Lateral Sclerosis (ALS) may not affect an individual's sexual function directly, but it can indirectly impact their sexual activity. Sexual partners often become caregivers, diminishing sexuality within a relationship. This can result in decline of quality of life. OBJECTIVE: The study aimed to explore the perspectives of individuals with ALS and their treating clinicians regarding the importance of sexuality in rehabilitation within a multidisciplinary ALS center...
2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/29031901/als-and-ftd-insights-into-the-disease-mechanisms-and-therapeutic-targets
#15
Rajka M Liscic
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative disorders, related by signs of deteriorating motor and cognitive functions, and short survival. The causes are still largely unknown and no effective treatment currently exists. It has been shown that FTLD may coexist with ALS. The overlap between ALS and frontotemporal dementia (FTD), the clinical syndrome associated with FTLD, occurs at clinical, genetic, and pathological levels. The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43 or FUS, rarely the disease is caused by mutations in the respective genes...
October 12, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29024785/slow-intrathecal-injection-of-raavrh10-enhances-its-transduction-of-spinal-cord-and-therapeutic-efficacy-in-a-mutant-sod1-model-of-als
#16
Dongxiao Li, Chong Liu, Chunxing Yang, Dan Wang, Dongxia Wu, Yinkuang Qi, Qin Su, Guangping Gao, Zuoshang Xu, Yansu Guo
Mutant SOD1 causes amyotrophic lateral sclerosis (ALS) by a dominant gain of toxicity. Previous studies have demonstrated therapeutic potential of mutant SOD1-RNAi delivered by intrathecal (IT) injection of recombinant adeno-associated virus (rAAV). However, optimization of delivery is needed to overcome the high degree of variation in the transduction efficiency and therapeutic efficacy. Here, on the basis of our previously defined, efficient IT injection method, we investigated the influence of injection speed on transduction efficiency in the central nervous system (CNS)...
December 4, 2017: Neuroscience
https://www.readbyqxmd.com/read/28993751/immune-modulation-in-the-treatment-of-amyotrophic-lateral-sclerosis-a-review-of-clinical-trials
#17
REVIEW
Syed I Khalid, Leonel Ampie, Ryan Kelly, Shafeeq S Ladha, Christopher Dardis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of motor neurons. Though many molecular and genetic causes are thought to serve as predisposing or disease propagating factors, the underlying pathogenesis of the disease is not known. Recent discoveries have demonstrated the presence of inflammation propagating substrates in the central nervous system of patients afflicted with ALS. Over the past decade, this hypothesis has incited an effort to better understand the role of the immune system in ALS and has led to the trial of several potential immune-modulating therapies...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28991661/behavioral-and-affective-features-of-amyotrophic-lateral-sclerosis-patients
#18
Yasuyuki Ohta, Kota Sato, Mami Takemoto, Yoshiaki Takahashi, Ryuta Morihara, Yumiko Nakano, Keiichiro Tsunoda, Emi Nomura, Nozomi Hishikawa, Toru Yamashita, Koji Abe
Evaluating the cognitive and behavioral features in amyotrophic lateral sclerosis (ALS) patients is important for therapy and care. Fifty-seven ALS, 5 ALS with the behavioral variant of frontotemporal dementia (FTD) (ALS-FTD), 12 FTD patients, and 35 control subjects were evaluated by 10 different tests for cognitive and behavioral (mini-mental state examination (MMSE), Hasegawa dementia rating scale - revised (HDS-R), frontal assessment battery (FAB), Montreal cognitive assessment (MoCA), ALS-frontotemporal dementia-Questionnaire (ALS-FTD-Q), and anosognosia scale), affective (depression, apathy, and behavioral and psychological symptoms of dementia (BPSD)), and activities of daily living (ADL) assessments...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28980624/amyotrophic-lateral-sclerosis
#19
REVIEW
Orla Hardiman, Ammar Al-Chalabi, Adriano Chio, Emma M Corr, Giancarlo Logroscino, Wim Robberecht, Pamela J Shaw, Zachary Simmons, Leonard H van den Berg
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and eventual paralysis. Until recently, ALS was classified primarily within the neuromuscular domain, although new imaging and neuropathological data have indicated the involvement of the non-motor neuraxis in disease pathology. In most patients, the mechanisms underlying the development of ALS are poorly understood, although a subset of patients have familial disease and harbour mutations in genes that have various roles in neuronal function...
October 5, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28977445/proteostasis-disturbance-in-amyotrophic-lateral-sclerosis
#20
Danilo B Medinas, Vicente Valenzuela, Claudio Hetz
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motoneurons in the brain and spinal cord leading to paralysis and death. Although the etiology of ALS remains poorly understood, abnormal protein aggregation and altered proteostasis are common features of sporadic and familial ALS forms. The proteostasis network is decomposed into different modules highly conserved across species and comprehends a collection of mechanisms related to protein synthesis, folding, trafficking, secretion and degradation that is distributed in different compartments inside the cell...
October 1, 2017: Human Molecular Genetics
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