keyword
MENU ▼
Read by QxMD icon Read
search

Spinal Muscle Atrophy

keyword
https://www.readbyqxmd.com/read/29163212/regulation-of-skeletal-muscle-plasticity-by-protein-arginine-methyltransferases-and-their-potential-roles-in-neuromuscular-disorders
#1
REVIEW
Derek W Stouth, Tiffany L vanLieshout, Nicole Y Shen, Vladimir Ljubicic
Protein arginine methyltransferases (PRMTs) are a family of enzymes that catalyze the methylation of arginine residues on target proteins, thereby mediating a diverse set of intracellular functions that are indispensable for survival. Indeed, full-body knockouts of specific PRMTs are lethal and PRMT dysregulation has been implicated in the most prevalent chronic disorders, such as cancers and cardiovascular disease (CVD). PRMTs are now emerging as important mediators of skeletal muscle phenotype and plasticity...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29159074/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#2
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29142792/spinal-muscular-atrophy-the-treatment-approved
#3
Rabih Tabet, Sandy El Bitar, Julie Zaidan, Garbis Dabaghian
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder resulting in progressive muscle weakness and atrophy. It is universally fatal, especially if the respiratory muscles are involved leading to repetitive aspiration and respiratory failure. Historically, the treatment for this disease was only supportive. Herein we describe an adult patient who presented with worsening weakness and fatigue and was subsequently diagnosed with spinal muscular atrophy. Increased awareness of this condition and a new treatment modality is required...
September 2, 2017: Curēus
https://www.readbyqxmd.com/read/29132389/advances-challenges-and-future-directions-for-stem-cell-therapy-in-amyotrophic-lateral-sclerosis
#4
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/29132243/protective-effects-of-estradiol-and-dihydrotestosterone-following-spinal-cord-injury
#5
Dale R Sengelaub, Qi Han, Nai-Kui Liu, Melissa Maczuga, Violetta Szalavari, Stephanie Valencia, Xiao-Ming Xu
Spinal cord injury (SCI) results in lesions that destroy tissue and disrupt spinal tracts, producing deficits in locomotor and autonomic function. We previously demonstrated that motoneurons, and the muscles they innervate, show pronounced atrophy after SCI, and these changes are prevented by treatment with testosterone. Here we assessed if the testosterone active metabolites, estradiol and dihydrotestosterone, have similar protective effects after SCI. Young adult female rats received either sham or T9 spinal cord contusion injuries and were treated with estradiol, dihydrotestosterone, both, or nothing via Silastic capsules...
November 13, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29099679/photobiomodulation-in-neuroscience-a-summary-of-personal-experience
#6
Shimon Rochkind
OBJECTIVE: This review summarizes personal experience with laser photobiomodulation and its potentials for the treatment of peripheral and central nerve system injuries. METHODS AND RESULTS: Laser photobiomodulation was shown to induce nerve cell activation, have a positive effect on metabolism of the nerve cells, and to stimulate nerve sprouting processes. Studies investigating the effects of laser photobiomodulation on injured peripheral nerves in rats reported immediate protective effects which increase the functional activity of the nerve, decrease or prevent scar tissue formation at the injured site, prevent or decrease degeneration in corresponding motor neurons of the spinal cord, and significantly increase axonal growth and myelinization...
November 2017: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/29081932/free-aspire-a-new-device-for-the-management-of-airways-clearance-in-patient-with-ineffective-cough
#7
Luca Bertelli, Giovanni Di Nardo, Salvatore Cazzato, Giampaolo Ricci, Andrea Pession
A 3-year-old girl with Spinal Muscular Atrophy type I presented with a right pneumonia. On physical examination pulmonary auscultation revealed an asymmetry of breath sounds between the 2 hemithoraces, owing to decreased breath sounds in the right hemithorax. Blood tests were normal. The initial working diagnosis was a suspected area of mucus accumulation. A treatment with Free Aspire was started. Within a few days, the girl was discharged with a normal physical examination and X-ray study result. Spinal Muscular Atrophy is a rare neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29062563/segmental-spinal-muscular-atrophy-localised-to-the-lower-limbs-first-case-from-oman
#8
Roshan Koul, Amna Al-Futaisi, Khalid Al-Thihli, Zandre Bruwer, Patrick Scott
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA...
August 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29061699/hud-and-the-survival-motor-neuron-protein-interact-in-motoneurons-and-are-essential-for-motoneuron-development-function-and-mrna-regulation
#9
Le Thi Hao, Phan Q Duy, Min An, Jared Talbot, Chitra C Iyer, Marc Wolman, Christine E Beattie
Motoneurons establish a critical link between the central nervous system and muscles. If motoneurons do not develop correctly, they cannot form the required connections resulting in movement defects or paralysis. Compromised development can also lead to degeneration since the motoneuron is not set up to function properly. Little is known, however, regarding the mechanisms that control vertebrate motoneuron development particularly the later stages of axon branch and dendrite formation. The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein leading to defects in vertebrate motoneuron development and synapse formation...
October 23, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29050895/minimal-invasive-lumbar-spine-revision-surgery-at-distance-from-the-dura-and-postsurgical-scar-tissue-extraforaminal-lumbar-interbody-fusion-elif
#10
Arthur R Kurzbuch, Didier Recoules-Arche
Lumbar spine revision surgery is considered as challenging and related to longer operation time and complications because of the loss of anatomical landmarks and the formation of postoperative epidural fibrosis. Minimal invasive lumbar spinal surgery techniques have been refined over the last 5 years but the reexposure of the dura, the formation of postsurgical scar tissue and related dural tears remain a source of complications. For lumbar spinal revision surgery we advocate the minimal invasive Extraforaminal Lumbar Interbody Fusion (ELIF) technique...
October 16, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29032220/electodiagnostic-and-advanced-neuro-imaging-characterization-for-successful-treatment-of-a-spinal-extradural-arachnoid-cyst
#11
Tomoko Tanaka, Raja S Boddepalli, Douglas C Miller, Zongxian Cao, Vivek Sindhwani, Joan R Coates, Raghav Govindarajan, N Scott Litofsky
BACKGROUND: Spinal extradural arachnoid cysts (SEAC) are relatively uncommon. However, several large cysts have presented with spinal cord compression requiring surgical intervention. CASE DESCRIPTION: We report a patient with progressively enlarging SEAC causing worsening right S1 radiculopathy and gastrocnemius muscle atrophy. Electromyography (EMG) and nerve conduction studies (NCS) revealed an S1 motor radiculopathy. Serial magnetic resonance imaging (MRI) findings confirmed enlargement of the small cyst originating from the sacral thecal sac on the right while two smaller cyst on the left remained stable...
October 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28983837/treatment-advances-in-spinal-muscular-atrophy
#12
REVIEW
Diana Bharucha-Goebel, Petra Kaufmann
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons in the anterior horns of the spinal cord and brainstem that results in muscle atrophy and weakness. SMA is an autosomal recessive disease linked to deletions of the SMN1 gene on chromosome 5q. Humans have a duplicate gene (SMN2) whose product can mitigate disease severity, leading to the variability in severity and age of onset of disease, and is therefore a target for drug development. RECENT FINDINGS: Advances in preclinical and clinical trials have paved the way for novel therapeutic options for SMA patients, including many currently in clinical trials...
October 6, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28977438/spinal-muscular-atrophy-antisense-oligonucleotide-therapy-opens-the-door-to-an-integrated-therapeutic-landscape
#13
Matthew J A Wood, Kevin Talbot, Melissa Bowerman
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by loss of spinal cord motor neurons, muscle atrophy and infantile death or severe disability. It is caused by severe reduction of the ubiquitously expressed survival motor neuron (SMN) protein, owing to loss of the SMN1 gene. This would be completely incompatible with survival without the presence of a quasi-identical duplicated gene, SMN2, specific to humans. SMN2 harbours a silent point mutation that favours the production of transcripts lacking exon 7 and a rapidly degraded non-functional SMNΔ7 protein, but from which functional full length SMN protein is produced at very low levels (∼10%)...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971036/noninvasive-respiratory-management-of-patients-with-neuromuscular-disease
#14
REVIEW
John R Bach
This review article describes definitive noninvasive respiratory management of respiratory muscle dysfunction to eliminate need to resort to tracheotomy. In 2010 clinicians from 22 centers in 18 countries reported 1,623 spinal muscular atrophy type 1 (SMA1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis users of noninvasive ventilatory support (NVS) of whom 760 required it continuously (CNVS). The CNVS sustained their lives by over 3,000 patient-years without resort to indwelling tracheostomy tubes...
August 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28950736/effects-of-early-nerve-repair-on-experimental-brachial-plexus-injury-in-neonatal-rats
#15
Gráinne Bourke, Aleksandra M McGrath, Mikael Wiberg, Lev N Novikov
Obstetrical brachial plexus injury refers to injury observed at the time of delivery, which may lead to major functional impairment in the upper limb. In this study, the neuroprotective effect of early nerve repair following complete brachial plexus injury in neonatal rats was examined. Brachial plexus injury induced 90% loss of spinal motoneurons and 70% decrease in biceps muscle weight at 28 days after injury. Retrograde degeneration in spinal cord was associated with decreased density of dendritic branches and presynaptic boutons and increased density of astrocytes and macrophages/microglial cells...
January 1, 2017: Journal of Hand Surgery, European Volume
https://www.readbyqxmd.com/read/28941298/symptom-management-and-psychological-support-for-families-are-the-cornerstones-of-end-of-life-care-for-children-with-spinal-muscular-atrophy-type-1
#16
Chiara Di Pede, Caterina Agosto, Valentina De Tommasi, Alessandra De Gregorio, Franca Benini
AIM: This study described end-of-life care for children affected by spinal muscular atrophy type 1 (SMA1), which is characterised by progressive muscle weakness and develops in the first six months of life. METHODS: We retrospectively analysed 17 children (13 boys) who attended the University of Padua's paediatric palliative care centre in Italy from March 2000 to March 2015. All the children received supportive care without proactive respiratory intervention to prolong survival...
September 23, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28931824/boosted-regeneration-and-reduced-denervated-muscle-atrophy-by-neuroheal-in-a-pre-clinical-model-of-lumbar-root-avulsion-with-delayed-reimplantation
#17
David Romeo-Guitart, Joaquim Forés, Xavier Navarro, Caty Casas
The "gold standard" treatment of patients with spinal root injuries consists of delayed surgical reconnection of nerves. The sooner, the better, but problems such as injury-induced motor neuronal death and muscle atrophy due to long-term denervation mean that normal movement is not restored. Herein we describe a preclinical model of root avulsion with delayed reimplantation of lumbar roots that was used to establish a new adjuvant pharmacological treatment. Chronic treatment (up to 6 months) with NeuroHeal, a new combination drug therapy identified using a systems biology approach, exerted long-lasting neuroprotection, reduced gliosis and matrix proteoglycan content, accelerated nerve regeneration by activating the AKT pathway, promoted the formation of functional neuromuscular junctions, and reduced denervation-induced muscular atrophy...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#18
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/28899595/peripheral-nerve-pathology-at-fixed-stage-in-spinal-muscular-atrophy-with-respiratory-distress-type-1
#19
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
#20
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
keyword
keyword
94740
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"