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https://www.readbyqxmd.com/read/28926777/experience-as-knowledge-disability-distillation-and-reprogenetic-decision-making
#1
Felicity K Boardman
'Experiential knowledge' is increasingly recognised as an important influence on reproductive decision-making. 'Experiential knowledge of disability' in particular is a significant resource within prenatal testing/screening contexts, enabling prospective parents to imagine and appraise future lives affected by disability. However, the concept of 'experiential knowledge' has been widely critiqued for its idiosyncrasy, its impermanence and consequently its perceived inferiority to (medical) knowledge. This paper explores some of these key critiques of experiential knowledge through an analysis of its constitution and uses in the context of reproductive decision-making...
September 8, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28917631/-unknown-title
#2
Jacqueline Montes, Sally Dunaway Young, Elena Mazzone, Marion Main
No abstract text is available yet for this article.
July 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28916199/erk-and-rock-functionally-interact-in-a-signaling-network-that-is-compensationally-upregulated-in-spinal-muscular-atrophy
#3
Niko Hensel, Svetlana Baskal, Lisa Marie Walter, Hella Brinkmann, Manuela Gernert, Peter Claus
Spinal Muscular Atrophy (SMA) is a motoneuron disease caused by low levels of functional survival of motoneuron protein (SMN). Molecular disease mechanisms downstream of functional SMN loss are still largely unknown. Previous studies suggested an involvement of Rho kinase (ROCK) as well as the extracellular signal-regulated kinases (ERK) pathways in the pathomechanism. Both pathways are bi-directionally linked and inhibit each other. Thus, we hypothesize that both pathways regulate SMA pathophysiology in vivo in a combined manner rather than acting separately...
September 12, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#4
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
September 13, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28905498/effect-of-bimagrumab-on-thigh-muscle-volume-and-composition-in-men-with-casting-induced-atrophy
#5
Daniel S Rooks, Didier Laurent, Jens Praestgaard, Scott Rasmussen, Michael Bartlett, László B Tankó
BACKGROUND: Patients experiencing disuse atrophy report acute loss of skeletal muscle mass which subsequently leads to loss of strength and physical capacity. In such patients, especially the elderly, complete recovery remains a challenge even with improved nutrition and resistance exercise. This study aimed to explore the clinical potential of bimagrumab, a human monoclonal antibody targeting the activin type II receptor, for the recovery of skeletal muscle volume from disuse atrophy using an experimental model of lower extremity immobilization...
September 14, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28899595/peripheral-nerve-pathology-at-fixed-stage-in-spinal-muscular-atrophy-with-respiratory-distress-type-1
#6
Azusa Ikeda, Sumimasa Yamashita, Yu Tsuyusaki, Mio Tanaka, Yukichi Tanaka, Akihiro Hashiguchi, Hiroshi Takashima, Tomohide Goto
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is characterized by severe respiratory failure due to diaphragmatic paralysis and distal muscular weakness in early infancy. After an initial decline in respiratory state and motor function until 1-2years of age, residual capabilities reach a plateau. We report the peripheral neuropathological findings of a patient with SMARD1 at 1year and 1month of age, when his muscle strength and respiratory symptoms had deteriorated and then stabilized for several months...
September 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28899515/the-water-extract-of-liuwei-dihuang-possesses-multi-protective-properties-on-neurons-and-muscle-tissue-against-deficiency-of-survival-motor-neuron-protein
#7
Yu-Ting Tseng, Yuh-Jyh Jong, Wei-Fang Liang, Fang-Rong Chang, Yi-Ching Lo
BACKGROUND: Deficiency of survival motor neuron (SMN) protein, which is encoded by the SMN1 and SMN2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (SMA). Currently, there is no effective treatment for SMA. Liuwei dihuang (LWDH), a traditional Chinese herbal formula, possesses multiple therapeutic benefits against various diseases via modulation of the nervous, immune and endocrine systems. Previously, we demonstrated water extract of LWDH (LWDH-WE) protects dopaminergic neurons and improves motor activity in models of Parkinson's disease...
October 15, 2017: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/28889642/treating-pediatric-neuromuscular-disorders-the-future-is-now
#8
REVIEW
James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell
Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies)...
September 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884620/nusinersen-for-the-treatment-of-spinal-muscular-atrophy
#9
Claudia A Chiriboga
Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disorder characterized by loss of spinal motor neurons leading to muscle weakness. This review article focuses on a novel antisense oligonucleotide treatment, first ever approved for SMA (nusinersen, Spinraza(TM)) and describes the exciting journey from early ASO clinical trials to regulatory approval of the first ever known effective treatment for SMA. Areas covered: This article reviews the results of the published open label nusinersen studies in infants and children, and briefly covers the preliminary findings of the recently completed but as yet unpublished nusinersen-sham controlled trials, as well as the presymptomatic nusinersen trial known as Nurture...
September 8, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/28883039/disease-associated-mutations-in-human-bicd2-hyperactivate-motility-of-dynein-dynactin
#10
Walter Huynh, Ronald D Vale
Bicaudal D2 (BICD2) joins dynein with dynactin into a ternary complex (termed DDB) capable of processive movement. Point mutations in the BICD2 gene have been identified in patients with a dominant form of spinal muscular atrophy, but how these mutations cause disease is unknown. To investigate this question, we have developed in vitro motility assays with purified DDB and BICD2's membrane vesicle partner, the GTPase Rab6a. Rab6a-GTP, either in solution or bound to artificial liposomes, released BICD2 from an autoinhibited state and promoted robust dynein-dynactin transport...
September 7, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28881388/autosomal-dominant-calpainopathy-due-to-heterozygous-capn3-c-643_663del21
#11
Jennifer M Martinez-Thompson, Zhiyv Niu, Jennifer A Tracy, Steven A Moore, Andrea Swenson, Eric D Wieben, Margherita Milone
INTRODUCTION: A calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe three families with AD calpainopathy carrying this isolated mutation. METHODS: Probands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28881009/seeking-a-better-landscape-for-therapy-development-in-neuromuscular-disorders
#12
Jane Larkindale, John D Porter
While the neuromuscular field has seen accelerated approval of a drug for Duchenne muscular dystrophy (DMD) and full approval of one for spinal muscular atrophy, these experiences have shown that objective data and an adequate level of effect are essential for drug approval and reimbursement. The appropriateness and validity of biomarkers and clinically meaningful endpoints, and an understanding of disease progression rates, all played essential roles in the levels of evidence for these drugs. Such tools are best developed through integration of clinical data...
September 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28880019/market-access-of-spinraza-nusinersen-for-spinal-muscular-atrophy-intellectual-property-rights-pricing-value-and-coverage-considerations
#13
S Simoens, I Huys
No abstract text is available yet for this article.
September 7, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28879433/cbp-mediated-smn-acetylation-modulates-cajal-body-biogenesis-and-the-cytoplasmic-targeting-of-smn
#14
Vanesa Lafarga, Olga Tapia, Sahil Sharma, Rocio Bengoechea, Georg Stoecklin, Miguel Lafarga, Maria T Berciano
The survival of motor neuron (SMN) protein plays an essential role in the biogenesis of spliceosomal snRNPs and the molecular assembly of Cajal bodies (CBs). Deletion of or mutations in the SMN1 gene cause spinal muscular atrophy (SMA) with degeneration and loss of motor neurons. Reduced SMN levels in SMA lead to deficient snRNP biogenesis with consequent splicing pathology. Here, we demonstrate that SMN is a novel and specific target of the acetyltransferase CBP (CREB-binding protein). Furthermore, we identify lysine (K) 119 as the main acetylation site in SMN...
September 6, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28878096/effects-of-astroglia-on-motor-neurons-in-spinal-muscular-atrophy
#15
Bert M Verheijen
No abstract text is available yet for this article.
September 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28877556/patient-identified-impact-of-symptoms-in-spinal-and-bulbar-muscular-atrophy
#16
Robert D Guber, Angela D Kokkinis, Alice B Schindler, Roxanna M Bendixen, Chad R Heatwole, Kenneth H Fischbeck, Christopher Grunseich
INTRODUCTION: The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective, and the impact these symptoms have on QoL. METHODS: We conducted open-ended interviews with 21 adult males with genetically confirmed SBMA. Using a qualitative framework technique, interviews were coded and analyzed to identify symptoms and resulting themes. RESULTS: From these interviews, 729 quotations were extracted...
September 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28877195/spatial-and-age-related-changes-in-the-microstructure-of-dystrophic-and-healthy-diaphragms
#17
Catherine C Henry, Kyle S Martin, Bridget B Ward, Geoffrey G Handsfield, Shayn M Peirce, Silvia S Blemker
Duchenne muscular dystrophy (DMD) is a progressive degenerative disease that results in fibrosis and atrophy of muscles. The main cause of death associated with DMD is failure of the diaphragm. The diaphragm is a dome-shaped muscle with a fiber microstructure that differs across regions of the muscle. However, no studies to our knowledge have examined spatial variations of muscle fibers in dystrophic diaphragm or how aging affects those variations in DMD. In this study, diaphragms were obtained from mdx and healthy mice at ages three, seven, and ten months in the dorsal, midcostal, and ventral regions...
2017: PloS One
https://www.readbyqxmd.com/read/28873855/usability-of-jaco-arm-interfaces-designed-with-a-user-centred-design-method
#18
Damien Sauzin, Nadine Vigouroux, Frédéric Vella
Utility, usability and acceptability of robotic arm for helping motor impairment people (quadriplegic, muscular dystrophy, Amyotrophic Lateral Sclerosis) must be improved. The robotic arm JACO of company ©Kinova is controlled by a joystick, sometimes unusable by patients. The IRIT laboratory has designed three types of virtual interfaces: one based on virtual keyboards and two others on Pie Menu concepts. These interfaces were designed by mean of a user centred design approach (UCDA) including brain storming, focus group, iterative prototyping and trials...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28864392/amphiphilic-lipopeptide-significantly-enhances-uptake-of-charge-neutral-splice-switching-morpholino-oligonucleotide-in-spinal-muscular-atrophy-patient-derived-fibroblasts
#19
Behnoosh Tajik-Ahmadabad, Anastasios Polyzos, Frances Separovic, Fazel Shabanpoor
Splice-switching antisense oligonucleotides (SSOs) are emerging therapeutics with two SSOs recently approved by the FDA for Duchenne muscular dystrophy and spinal muscular atrophy. SSOs are administered without any delivery vector and require large doses to achieve the therapeutic benefit, primarily due to their poor cellular uptake. Although cell-penetrating peptides (CPP) have shown great potential in delivering SSOs into cells, their capacity as delivery vector is limited. Here we have studied the effect of lipid conjugation on the cell permeability of a known CPP (ApoE)...
August 31, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28856575/muscle-bone-interactions-in-pediatric-bone-diseases
#20
REVIEW
Louis-Nicolas Veilleux, Frank Rauch
PURPOSE: Here, we review the skeletal effects of pediatric muscle disorders as well as muscle impairment in pediatric bone disorders. RECENT FINDINGS: When starting in utero, muscle disorders can lead to congenital multiple contractures. Pediatric-onset muscle weakness such as cerebral palsy, Duchenne muscular dystrophy, spinal muscular atrophy, or spina bifida typically are associated with small diameter of long-bone shafts, low density of metaphyseal bone, and increased fracture incidence in the lower extremities, in particular, the distal femur...
August 30, 2017: Current Osteoporosis Reports
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