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Neuromuscular therapy

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https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#1
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#2
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28639617/gene-therapy-for-spinomuscular-atrophy-a-biomedical-advance-a-missed-opportunity-for-more-equitable-drug-pricing
#3
T Friedmann
An experimental approach for gene therapy of spinomuscular atrophy has been reported to prevent development of the neuromuscular features of this lethal and previously untreatable disorder. The approach involves treatment of patients suffering from SMN1-associated infantile form of the disease with a splice-switching antisense oligonucleotide (ASO) that corrects aberrant splicing of the nearly identical SMN2 gene to allow the generation of functional SMN protein, thereby mitigating the development of the disease...
June 22, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28635376/advances-in-understanding-the-role-of-disease-associated-proteins-in-spinal-muscular-atrophy
#4
Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Brunhilde Wirth
Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by alpha motor neuron loss in the spinal cord due to reduced survival of motor neuron (SMN) protein level. While the genetic basis of SMA is well described, the specific molecular pathway underlying SMA is still not fully understood. Areas covered: This review discusses the recent advancements in understanding the molecular pathways in SMA using different omics approaches and genetic modifiers identified in both vertebrate and invertebrate systems...
June 21, 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/28628595/activity-based-therapy-from-basic-science-to-clinical-application-for-recovery-after-spinal-cord-injury
#5
Andrea L Behrman, Elizabeth M Ardolino, Susan J Harkema
BACKGROUND AND PURPOSE: Collaboration between scientists and clinicians effectively accelerated translation of scientific evidence for activity-based therapies (ABTs) into rehabilitation. This article addresses the basic scientific findings of activity-dependent plasticity that led to locomotor training, an ABT, and its principles to advance recovery in adult and pediatric populations with spinal cord injury (SCI). Expansion to new therapies based on these common principles is highlighted, for example, epidural stimulation...
July 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/28628514/effects-of-dexamethasone-on-sugammadex-reversal-times-of-rocuronium-a-systematic-review-protocol
#6
Cassie R Held, Mackenzie D Sullivan
The objective of the review is to identify the effect of dexamethasone on reversal times of rocuronium when utilizing sugammadex as the reversal agent. The incidence of the prolonged time to extubation in patients who have received concurrent dexamethasone and sugammadex therapies as opposed to those who have not received dexamethasone will also be examined.The proposed PICO question is as follows: In patients undergoing reversal of aminosteroidal neuromuscular blockade with rocuronium, does dexamethasone administration affect sugammadex reversal times, as compared to patients who have not received dexamethasone?...
June 2017: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/28627356/aquatic-therapy-for-children-with-duchenne-muscular-dystrophy-a-pilot-feasibility-randomised-controlled-trial-and-mixed-methods-process-evaluation
#7
Daniel Hind, James Parkin, Victoria Whitworth, Saleema Rex, Tracey Young, Lisa Hampson, Jennie Sheehan, Chin Maguire, Hannah Cantrill, Elaine Scott, Heather Epps, Marion Main, Michelle Geary, Heather McMurchie, Lindsey Pallant, Daniel Woods, Jennifer Freeman, Ellen Lee, Michelle Eagle, Tracey Willis, Francesco Muntoni, Peter Baxter
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare disease that causes the progressive loss of motor abilities such as walking. Standard treatment includes physiotherapy. No trial has evaluated whether or not adding aquatic therapy (AT) to land-based therapy (LBT) exercises helps to keep muscles strong and children independent. OBJECTIVES: To assess the feasibility of recruiting boys with DMD to a randomised trial evaluating AT (primary objective) and to collect data from them; to assess how, and how well, the intervention and trial procedures work...
May 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28621200/muscle-derived-stem-cells-in-peripheral-nerve-regeneration-reality-or-illusion
#8
Jing Zhou, Haiyan Cui, Haibin Lu, Zhuqiu Xu, Weifeng Feng, Lulu Chen, Xiaolei Jin, Xiaonan Yang, Zuoliang Qi
Owing to the complicated and time-consuming regenerative process, the repair of injured peripheral nerves depends largely on ongoing stem-cell therapy. Decades ago, researchers successfully isolated and identified muscle-derived stem cells (MDSCs) and discovered their potential for multidifferentiation. MDSCs play an important role in trauma repair associated with neuromuscular and vascular injury by simultaneously promoting tissue regrowth via direct differentiation and systematic secretion under physiological conditions...
June 16, 2017: Regenerative Medicine
https://www.readbyqxmd.com/read/28620563/pharmacological-threat-to-lungs-a-case-series-and-literature-review
#9
REVIEW
Omar Irfan, Jaleed A Gilani, Abeel Irshad, Babar Irfan, Javaid A Khan
Drug-induced organ damage stands as a prevalent yet much-neglected issue globally. Keeping in view it's rising frequency, health care providers stand obliged to be well versed with the de-merits of the agents they prescribe. Drug therapies causing damage present with a non-specific clinical presentation, histological findings or radiology, which further elaborates on the necessity of a conscientious diagnosis. Pulmonary architecture ranging from the airways, lung parenchyma, mediastinum, pleura, pulmonary vasculature or the neuromuscular system, all can fall victim to the dreaded outcomes of this menace...
May 9, 2017: Curēus
https://www.readbyqxmd.com/read/28615302/ccr2-dependent-monocyte-derived-macrophages-resolve-inflammation-and-restore-gut-motility-in-postoperative-ileus
#10
Giovanna Farro, Michelle Stakenborg, Pedro J Gomez-Pinilla, Evelien Labeeuw, Gera Goverse, Martina Di Giovangiulio, Nathalie Stakenborg, Elisa Meroni, Francesca D'Errico, Yvon Elkrim, Damya Laoui, Zofia M Lisowski, Kristin A Sauter, David A Hume, Jo A Van Ginderachter, Guy E Boeckxstaens, Gianluca Matteoli
OBJECTIVE: Postoperative ileus (POI) is assumed to result from myeloid cells infiltrating the intestinal muscularis externa (ME) in patients undergoing abdominal surgery. In the current study, we investigated the role of infiltrating monocytes in a murine model of intestinal manipulation (IM)-induced POI in order to clarify whether monocytes mediate tissue damage and intestinal dysfunction or they are rather involved in the recovery of gastrointestinal (GI) motility. DESIGN: IM was performed in mice with defective monocyte migration to tissues (C-C motif chemokine receptor 2, Ccr2(-/ (-)) mice) and wild-type (WT) mice to study the role of monocytes and monocyte-derived macrophages (MΦs) during onset and resolution of ME inflammation...
June 14, 2017: Gut
https://www.readbyqxmd.com/read/28599652/regulatory-t-cells-in-multiple-sclerosis-and-myasthenia-gravis
#11
REVIEW
K M Danikowski, S Jayaraman, B S Prabhakar
Multiple sclerosis (MS) is a chronic debilitating disease of the central nervous system primarily mediated by T lymphocytes with specificity to neuronal antigens in genetically susceptible individuals. On the other hand, myasthenia gravis (MG) primarily involves destruction of the neuromuscular junction by antibodies specific to the acetylcholine receptor. Both autoimmune diseases are thought to result from loss of self-tolerance, which allows for the development and function of autoreactive lymphocytes. Although the mechanisms underlying compromised self-tolerance in these and other autoimmune diseases have not been fully elucidated, one possibility is numerical, functional, and/or migratory deficits in T regulatory cells (Tregs)...
June 9, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28587951/treatment-na%C3%A3-ve-spontaneous-tumor-lysis-syndrome-in-metastatic-prostate-adenocarcinoma-an-unusual-suspect
#12
Maya Ignaszewski, Patrick Kohlitz
Tumor lysis syndrome (TLS) is a potentially fatal condition defined both by laboratory and clinical criteria. It is caused by the catabolism of tumor cells which leads to considerable release and elevated levels of phosphate, potassium and uric acid in the bloodstream. These electrolyte derangements predispose patients to renal tubule uric acid precipitation, acute kidney injury, arrhythmias, neuromuscular irritability and even seizures. Although this phenomenon is well described with hematological malignancies, it is also known to occur among solid tumors...
May 26, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28580880/fibromyalgia-in-patients-with-chronic-ccd-and-cmd-a-retrospective-study-of-555-patients
#13
Brigitte Losert-Bruggner, Manfred Hülse, Roland Hülse
OBJECTIVE: Craniomandibular dysfunction (CMD) and craniocervical dysfunction (CCD) are clearly defined musculoskeletal pain syndromes. Relationships with fibromyalgia syndrome (FMS) have not yet been investigated. The aim of the present study is to establish possible relationships between FMS and CMD/ CCD. METHODS: In a retrospective study, 555 patients with CCD and CMD were investigated with respect to the diagnostic criteria of FMS. In addition to otolaryngologic and dental examination, an instrumental functional analysis for the diagnosis of CMD/CCD was performed...
June 5, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28580208/heart-transplantation-in-patients-with-dystrophinopathic-cardiomyopathy-review-of-the-literature-and-personal-series
#14
REVIEW
Andrea Antonio Papa, Paola D'Ambrosio, Roberta Petillo, Alberto Palladino, Luisa Politano
Cardiomyopathy associated with dystrophinopathies [Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-dCM) and cardiomyopathy of Duchenne/Becker (DMD/BMD) carriers] is an increasing recognized manifestation of these neuromuscular disorders and notably contributes to their morbidity and mortality. Dystrophinopathic cardiomyopathy (DCM) is the result of the dystrophin protein deficiency at the myocardium level, parallel to the deficiency occurring at the skeletal muscle level...
May 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28571492/eccentric-exercise-to-enhance-neuromuscular-control
#15
Lindsey K Lepley, Adam S Lepley, James A Onate, Dustin R Grooms
CONTEXT: Neuromuscular alterations are a major causal factor of primary and secondary injuries. Though injury prevention programs have experienced some success, rates of injuries have not declined, and after injury, individuals often return to activity with functionality below clinical recommendations. Considering alternative therapies to the conventional concentric exercise approach, such as one that can target neuromuscular injury risk and postinjury alterations, may provide for more effective injury prevention and rehabilitation protocols...
May 1, 2017: Sports Health
https://www.readbyqxmd.com/read/28562525/ophthalmoplegia-associated-with-lung-adenocarcinoma-in-a-patient-with-the-lambert-eaton-myasthenic-syndrome-a-case-report
#16
Yufeng Tang, Ke Wang, Zhonglun Chen, Muke Zhou, Jingfeng Duan, Tao Liu, Dong Zhou
RATIONALE: The Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disease; its unique symptoms of LEMS include dry mouth with a metallic taste, constipation, and erectile dysfunction. As it is quite rare, isolated ocular muscle impairment associated with LEMS east to ignore. PATIENT CONCERNS: A 65-year-old man presented with alternating ptosis and diplopia. Isolated ocular muscle impairment had lasted for 6 years, and the patient was initially diagnosed with ocular myasthenia gravis (MG)...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28561814/the-sma-trust-the-role-of-a-disease-focused-research-charity-in-developing-treatments-for-sma
#17
REVIEW
V Christie-Brown, J Mitchell, K Talbot
SMA is a rare hereditary neuromuscular disease that causes weakness and muscle wasting as a result of the loss of spinal motor neurons. In its most severe form, SMA is the commonest genetic cause of death in infants, and children with less severe forms of SMA face the prospect of lifelong disability from progressive muscle wasting, loss of mobility and limb weakness. The initial discovery of the defective gene has been followed by major advances in our understanding of the genetic, cellular and molecular basis of SMA, providing the foundation for a range of approaches to treatment including gene therapy, antisense oligonucleotide treatments and more traditional drug-based approaches to slow or halt disease progression...
May 31, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28556834/developmental-regulation-of-smn-expression-pathophysiological-implications-and-perspectives-for-therapy-development-in-spinal-muscular-atrophy
#18
REVIEW
S Jablonka, M Sendtner
Spinal muscular atrophy (SMA), the predominant form of motoneuron diease in children and young adults is caused by loss of function of the SMN protein. On the basis of a disrupted splice acceptor site in exon 7, transcripts from a second SMN gene in humans called SMN2 cannot give rise to SMN protein at sufficient levels for maintaining function of motoneurons and motor circuits. First clinical trials with Spinraza/Nusinersen, a drug that counteracts disrupted splicing of SMN2 transcripts, have shown that elevating SMN levels can successfully interfere with motoneuron dysfunction...
May 30, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28554557/screening-for-pompe-disease-in-a-portuguese-high-risk-population
#19
Vânia Almeida, Isabel Conceição, Isabel Fineza, Teresa Coelho, Fernando Silveira, Manuela Santos, Ana Valverde, Argemiro Geraldo, Ricardo Maré, Teresa Carolina Aguiar, Carla Mendonça, João Martins, Luísa Medeiros, Cândida Barroso, José Pedro Vieira, Teresa Moreno, Luis Negrão, Margarida Silva Dias, Lúcia Lacerda, Teresinha Evangelista
Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots...
March 29, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28546380/respiratory-implications-of-pediatric-neuromuscular-disease
#20
Howard B Panitch
Children with progressive neuromuscular weakness undergo a stereotypical progression of respiratory involvement, beginning with impaired airway clearance and progressing to nocturnal and then diurnal ventilatory failure. This review examines issues related to airway clearance and mucus mobilization, sleep problems, and use of assisted ventilation in children with neuromuscular diseases. Interventions for each of these problems have been created or adapted for the pediatric population. The use of airway clearance therapies and assisted ventilation have improved survival of children with neuromuscular weakness...
June 2017: Respiratory Care
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