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Neuromuscular therapy

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https://www.readbyqxmd.com/read/29222073/the-functional-impairments-in-a-patient-with-morvan-s-syndrome-a-case-report
#1
Stephanie Tow, Desi Carozza, Kim Barker
A 48 year-old man with lung squamous cell carcinoma was admitted to acute care with cognitive impairment after recent chemotherapy. He developed myoclonus, ataxia, agitation, and visual hallucinations. Morvan's Syndrome, a rare voltage-gated potassium channel antibody disorder characterized by neuromyotonia with central nervous system dysfunction, was eventually diagnosed. He received plasmapheresis and was admitted to inpatient rehabilitation, where he safely participated in therapies. By focusing on neuromuscular rehabilitation, balance training, fine motor skills, and cognitive retraining emphasizing skills relevant to the patient's premorbid cognitive activities, the patient demonstrated significant functional improvement, decreasing the burden of care of his caregivers...
December 5, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29220099/supportive-palliative-care-should-be-integrated-into-routine-care-for-paediatric-patients-with-life-limiting-kidney-disease
#2
REVIEW
Julia Thumfart, Tobias Reindl, Cornelia Rheinlaender, Dominik Müller
AIM: Paediatric palliative care is no longer restricted to patients with cancer and has been extended to patients with other chronic conditions, such as cystic fibrosis or neuromuscular disorders. This review focused on the current state of palliative care for children and adolescents with chronic kidney disease (CKD). METHOD: We assessed the literature on CKD published up to August 2017. All the papers, except one from 1996, were published this century. This review discusses the role that palliative care plays in the process of decision-making and explores the possibilities of implementing palliative care into the routine therapy of affected patients and providing support for their families...
December 8, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29214567/natural-history-trial-readiness-and-gene-discovery-advances-in-patient-registries-for-neuromuscular-disease
#3
Rachel Thompson, Agata Robertson, Hanns Lochmüller
Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal muscles or the nerves controlling muscle function. With a new generation of diagnostic options and recent advances in translational research improving the opportunities for therapy development for these rare conditions, capturing patient information in databases collecting a range of clinical and genetic data together with contact details has assumed an increasingly important role in trial planning and recruitment as well as natural history data collection...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29211921/infections-and-the-relationship-to-treatment-in-neuromuscular-autoimmunity
#4
Devin E Prior, Emily Nurre, Stephanie L Roller, David Kline, Ramit Panara, Amro M Stino, John A Davis, Miriam L Freimer, W David Arnold
INTRODUCTION: This study aimed to identify infections in patients with myasthenia gravis, dermatomyositis and chronic inflammatory demyelinating polyradiculoneuropathy and investigate the relationship between infection and immunomodulation. METHODS: A retrospective chart review examined 631 patients with myasthenia gravis (n=358), chronic inflammatory demyelinating polyradiculoneuropathy (n=124), and dermatomyositis (n=149) patients over a 10 year time period. RESULTS: Infection rates were similar at approximately 19% in all three diseases...
December 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29210719/neuromodulatory-burst-therapy-for-agent-orange-induced-peripheral-neuropathy-a-case-report
#5
Roxanna Rasekhi, Danielle Babb, Chane Price
The prevalence of neuromuscular diseases and peripheral neuropathies in veterans exposed to Agent Orange (AO) is particularly high. Pharmacologic management has not been effective for these patients. Burst therapy spinal cord stimulation (SCS), recently approved for use in the United States, has had demonstrable success in both Europe and Australia. We present a patient with AO-induced peripheral neuropathy who was successfully treated with burst SCS. To our knowledge, this is the first report describing the use of burst SCS for treatment of peripheral neuropathy related to AO exposure...
November 27, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29205691/intravenous-immunoglobulin-in-drug-and-device-refractory-patients-with-the-symptoms-of-gastroparesis-an-open-label-study
#6
M Ashat, A Lewis, H Liaquat, A Stocker, L McElmurray, V Vedanarayanan, K Soota, T Howell, A Kedar, J Obert, T L Abell
BACKGROUND: Gastroparesis is a complex clinical entity; many aspects of which remain unknown. Although most patients have idiopathic, diabetic, or postsurgical gastroparesis, many are thought to have measurable neuromuscular abnormalities. Immunotherapy has recently been utilized to treat suspected autoimmune gastrointestinal dysmotility. METHODS: Fourteen patients with symptoms of gastroparesis (Gp) who were refractory to drug/device were selected from 443 Gp patients from 2013 to 2015 who were treated at the University of Louisville motility center...
December 4, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29205338/s1p-receptor-antagonists-fingolimod-and-siponimod-do-not-improve-the-outcome-of-experimental-autoimmune-myasthenia-gravis-mice-after-disease-onset
#7
Andreas Pelz, Hanne Schaffert, Radharani Diallo, Falk Hiepe, Andreas Meisel, Siegfried Kohler
Myasthenia gravis (MG) is an autoimmune disease characterized by muscle weakness and fatigue in the presence of circulating antibodies against components of the neuromuscular junction. Most patients have a good prognosis, but some are refractory to standard-of-care immunosuppressive treatment and suffer from recurrent myasthenic crises. Functional sphingosine-1-phosphate (S1P) antagonists like fingolimod and siponimod (BAF312) are successfully used for the treatment of multiple sclerosis, and fingolimod was shown to prevent the development of myasthenic symptoms in experimental autoimmune myasthenia gravis (EAMG), the standard model of MG...
December 4, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29200627/effect-of-motor-imagery-training-and-electromyogram-triggered-neuromuscular-electrical-stimulation-on-lower-extremity-function-in-stroke-patients-a-pilot-trial
#8
Ji-Hoon Kim, Young-Seok Cho, Ji-Su Park, Won-Jin Kim
[Purpose] To investigate the effect of motor imagery training and electromyogram-triggered neuromuscular electrical stimulation (MIT-EMG NMES) on the lower extremity function of stroke patients. [Subjects and Methods] This study recruited eight patients with hemiplegia due to stroke. All patients received MIT-EMG NMES for 20 min daily, 5 days per week for 4 weeks. Lower extremity function were assessed using the timed up-and-go (TUG) and 10-meter walk (10MW) tests. [Results] The results of TUG test decreased significantly from 20...
November 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/29189923/congenital-myasthenic-syndrome-with-episodic-apnoea-clinical-neurophysiological-and-genetic-features-in-the-long-term-follow-up-of-19-patients
#9
Grace McMacken, Roger G Whittaker, Teresinha Evangelista, Angela Abicht, Marina Dusl, Hanns Lochmüller
BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding. METHODS: We reviewed clinical information from 19 patients with CMS-EA, including patients with mutations in CHAT, SLC5A7 and RAPSN, and patients lacking a genetic diagnosis...
November 30, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29187643/rescue-of-pompe-disease-in-mice-by-aav-mediated-liver-delivery-of-secretable-acid-%C3%AE-glucosidase
#10
Francesco Puzzo, Pasqualina Colella, Maria G Biferi, Deeksha Bali, Nicole K Paulk, Patrice Vidal, Fanny Collaud, Marcelo Simon-Sola, Severine Charles, Romain Hardet, Christian Leborgne, Amine Meliani, Mathilde Cohen-Tannoudji, Stephanie Astord, Bernard Gjata, Pauline Sellier, Laetitia van Wittenberghe, Alban Vignaud, Florence Boisgerault, Martine Barkats, Pascal Laforet, Mark A Kay, Dwight D Koeberl, Giuseppe Ronzitti, Federico Mingozzi
Glycogen storage disease type II or Pompe disease is a severe neuromuscular disorder caused by mutations in the lysosomal enzyme, acid α-glucosidase (GAA), which result in pathological accumulation of glycogen throughout the body. Enzyme replacement therapy is available for Pompe disease; however, it has limited efficacy, has high immunogenicity, and fails to correct pathological glycogen accumulation in nervous tissue and skeletal muscle. Using bioinformatics analysis and protein engineering, we developed transgenes encoding GAA that could be expressed and secreted by hepatocytes...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29181627/pompe-disease-in-austria-clinical-genetic-and-epidemiological-aspects
#11
W N Löscher, M Huemer, T M Stulnig, P Simschitz, S Iglseder, C Eggers, H Moser, D Möslinger, M Freilinger, F Lagler, S Grinzinger, M Reichhardt, R E Bittner, W M Schmidt, U Lex, M Brunner-Krainz, S Quasthoff, J V Wanschitz
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness...
November 27, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29181622/neuromuscular-fatigue-is-weakly-associated-with-perception-of-fatigue-and-function-in-patients-with-rheumatoid-arthritis
#12
Rafaela Cavalheiro do Espírito Santo, Marcelo Gava Pompermayer, Rodrigo Rico Bini, Vanessa Olszewski, Elton Gonçalves Teixeira, Rafael Chakr, Ricardo Machado Xavier, Claiton Viegas Brenol
To assess electromyographic parameters of neuromuscular fatigue in knee extensors and their association with clinical, functional and emotional features in patients with rheumatoid arthritis (RA). Thirty-eight female patients with RA participated. Electromyography parameters (changes in signal amplitude, represented by the root mean square, and frequency content, represented by median frequency-MDF) were assessed during a submaximal (60%) isometric contraction of the knee extensors, sustained for 60 s. Clinical characteristics; the 28-joint Disease Activity Score (DAS-28) in which includes count of swollen joints (out of the 28) and tender joints (out of the 28), the erythrocyte sedimentation rate and global disease activity measured on a visual analogue scale; serum C reactive protein (CRP); information on treatment; the Health Assessment Questionnaire; the Functional Assessment of Chronic Illness Therapy fatigue scale (FACIT-F); the Short Form Health Survey (SF-36) and the International Physical Activity Questionnaire (IPAQ), were also assessed...
November 27, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29177065/patients-with-symptoms-of-delayed-gastric-emptying-have-a-high-prevalence-of-oesophageal-dysmotility-irrespective-of-scintigraphic-evidence-of-gastroparesis
#13
George Triadafilopoulos, Linda Nguyen, John O Clarke
Background: Patients with symptoms suggestive of gastroparesis exhibit several symptoms, such as epigastric pain, postprandial fullness, bloating and regurgitation. It is uncertain if such symptoms reflect underlying oesophageal motor disorder. Aims: To examine whether patients with epigastric pain and postprandial distress syndrome suggestive of functional dyspepsia and/or gastroparesis also have concomitant oesophageal motility abnormalities and, if so, whether there are any associations between these disturbances...
2017: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/29176373/obstructive-sleep-apnea-and-bariatric-surgical-guidelines-summary-and-update
#14
Christel A L de Raaff, Nico de Vries, Bart A van Wagensveld
PURPOSE OF REVIEW: Increasing numbers of bariatric surgical procedures and the high prevalence of obstructive sleep apnea (OSA) in this population have resulted in a growing interest in the perioperative management of OSA in bariatric surgery. This review provides a summary of the first consensus guideline on this topic as well as an update of the newest literature available. RECENT FINDINGS: All bariatric patients should be screened for OSA and obesity hypoventilation syndrome (OHS) to reduce the risk of perioperative complications...
November 15, 2017: Current Opinion in Anaesthesiology
https://www.readbyqxmd.com/read/29174288/-update-on-the-respiratory-management-of-patients-with-chronic-neuromuscular-disease
#15
REVIEW
P Priou, W Trzepizur, N Meslier, F Gagnadoux
BACKGROUND: Neuromuscular diseases include a wide range of conditions that may involve potentially life-threatening respiratory complications (infection, respiratory failure). SURVEILLANCE AND PULMONARY FUNCTION TESTS: For patients with neuromuscular diseases, clinical assessment of respiratory function and regular pulmonary function tests are needed to screen for nocturnal respiratory disorders, weakness of the diaphragm and potential restrictive disorders and/or chronic hypercapnic respiratory insufficiency, possibly with couch deficiency...
November 21, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29173172/therapeutic-applications-of-crispr-cas-for-duchenne-muscular-dystrophy
#16
Tatianna Wai Ying Wong, Ronald D Cohn
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by the lack of dystrophin due to mutations in the DMD gene. Since dystrophin is essential in maintaining the integrity of the sarcolemmal membrane, the absence of the protein leads to muscle damage and DMD disease manifestation. Currently there is no cure with only symptomatic management available. OBJECTIVE: The most recent advancements in DMD therapies do not provide a permanent treatment for DMD...
November 21, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29169204/newborn-genetic-screening-for-spinal-muscular-atrophy-in-the-uk-the-views-of-the-general-population
#17
Felicity K Boardman, Chloe Sadler, Philip J Young
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public...
November 23, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29166883/the-humanistic-burden-of-pompe-disease-are-there-still-unmet-needs-a-systematic-review
#18
Benedikt Schoser, Deborah A Bilder, David Dimmock, Digant Gupta, Emma S James, Suyash Prasad
BACKGROUND: Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain...
November 22, 2017: BMC Neurology
https://www.readbyqxmd.com/read/29166305/botulinum-toxin-therapy-is-syringe-type-related-to-cost-effectiveness
#19
Mark Anthony Foglietti, Lauren Wright, Alanna Foglietti-Fostyk
INTRODUCTION: Clostridium botulinum toxin is effective through cleaving presynaptic proteins at the neuromuscular junction, which prevents the release of acetylcholine and inhibits muscle contraction. Several serotypes of botulinum toxin (BT) exist; however, only 2 types have been approved by the US Food and Drug Administration for commercial and medical use, A and B. Both types of BT must be administered intramuscularly with a syringe, but the type of syringe is the injector's preference...
November 21, 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29163334/improvement-of-upper-extremity-deficit-after-constraint-induced-movement-therapy-combined-with-and-without-preconditioning-stimulation-using-dual-hemisphere-transcranial-direct-current-stimulation-and-peripheral-neuromuscular-stimulation-in-chronic-stroke-patients
#20
Takashi Takebayashi, Kayoko Takahashi, Misa Moriwaki, Tomosaburo Sakamoto, Kazuhisa Domen
In this study, we investigated the effects of dual-hemisphere transcranial direct current stimulation (dual-tDCS) of both the affected (anodal tDCS) and non-affected (cathodal tDCS) primary motor cortex, combined with peripheral neuromuscular electrical stimulation (PNMES), on the effectiveness of constraint-induced movement therapy (CIMT) as a neurorehabilitation intervention in chronic stroke. We conducted a randomized controlled trial of feasibility, with a single blind assessor, with patients recruited from three outpatient clinics...
2017: Frontiers in Neurology
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