Abstract:
:New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Kwon JM,Abdel-Hamid HZ,Al-Zaidy SA,Mendell JR,Kennedy A,Kinnett K,Cwik VA,Street N,Bolen J,Day JW,Connolly AMdoi
10.1002/mus.25185subject
Has Abstractpub_date
2016-08-01 00:00:00pages
186-91issue
2eissn
0148-639Xissn
1097-4598journal_volume
54pub_type
杂志文章相关文献
MUSCLE & NERVE文献大全abstract::Muscle makes up the largest tissue volume of the body, yet its size makes muscle-specific therapy difficult. This becomes particularly relevant when approaches to gene therapy for inherited myopathies are evaluated. Thus, a mechanism to target constructs or pharmaceuticals to muscle following intravenous injection wou...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199904)22:4<460::aid-mus6>
更新日期:1999-04-01 00:00:00
abstract::The present study was conducted to determine the effects of acute overload exercise on mitochondrial DNA and the structure of skeletal muscles. Rats were forced to run for 20 min until reaching complete exhaustion. We detected the large-scale deletion (7052 bp) of mitochondrial DNA by the nested polymerase chain react...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199902)22:2<258::aid-mus15
更新日期:1999-02-01 00:00:00
abstract::We prospectively studied the diagnostic utility of upper limb segmental reflexes in patients with suspected cervical radiculopathy (CR). Fifty-three patients (29 men and 24 women), referred for electrodiagnostic testing, were positive for at least one of four clinical criteria for CR: abnormal (1) history, (2) motor (...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199908)22:8<1075::aid-mus1
更新日期:1999-08-01 00:00:00
abstract::A link between the cardioprotective benefits of pharmacological preconditioning and natural mammalian hibernation is considered to involve the cellular activation of opioid receptors and subsequent opening of K(ATP) channels. In previous studies, we have demonstrated the protective effects of specific delta-opioid ago...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20354
更新日期:2005-08-01 00:00:00
abstract::Chronic inflammatory demyelinating polyneuropathy (CIDP) presents in rare instances with focal or multifocal upper limb involvement. We reviewed the clinical and electromyographic (EMG) characteristics of 10 such patients (UL-CIDP) and compared them with patients with typical generalized CIDP (G-CIDP) and multifocal m...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/(sici)1097-4598(199906)22:6<758::aid-mus13
更新日期:1999-06-01 00:00:00
abstract:INTRODUCTION:We describe the ultrasonographic findings of sciatic nerve endometriosis. METHODS:Two premenopausal women with catamenial sciatica symptoms were examined, the first without a history of endometriosis, the second with previously confirmed endometriosis of the ovary. Ultrasonography, extending from the scia...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25152
更新日期:2016-09-01 00:00:00
abstract::Many post-polio patients develop new muscle weakness decades after the initial illness. However, its mechanism and treatment are controversial. The purpose of this study was to test the hypotheses that: (1) after strength training, post-polio patients show strength improvement comparable to that seen in the healthy el...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/mus.10327
更新日期:2003-03-01 00:00:00
abstract::In order to investigate whether Schwann cell or myelin was the principal antigen responsible for nerve graft rejection, fresh nerve grafts and those in which myelin had been previously allowed to degenerate (predegenerate grafts) from both isogeneic BALB/c and allogeneic C57/B1 mice were inserted into trembler BALB/c ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880040403
更新日期:1981-07-01 00:00:00
abstract:INTRODUCTION:Statins have well-known benefits on cardiovascular mortality, though up to 15% of patients experience side effects. With guidelines from the American Heart Association, American College of Cardiology, and American Diabetes Association expected to double the number of statin users, the overall incidence of ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24722
更新日期:2016-02-01 00:00:00
abstract::The superficial peroneal nerve subserves sensation on the entire surface of the dorsum of the foot, except in small areas. All previously reported techniques for evaluating nerve conduction along this nerve tested a proximal portion of the nerve. We report a new method for evaluating sensory nerve conduction of the fo...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/mus.1056
更新日期:2001-05-01 00:00:00
abstract::Twenty patients with myasthenia gravis were studied. Needle interference patterns at maximal isometric contractions were recorded from the biceps brachii muscles. Each recording lasted for 30 seconds and induced some fatigue. The EMG signals were transformed into power spectra and were analyzed for differences between...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880080410
更新日期:1985-05-01 00:00:00
abstract::The effect of endurance training on muscle electrical activity during general exercise testing was investigated in physically active patients with chronic obstructive pulmonary disease (COPD). Before and after rehabilitation, patients performed identical incremental exercise tests. Pulmonary gas exchange, venous lacta...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/mus.10491
更新日期:2003-12-01 00:00:00
abstract::The double-step technique of repetitive nerve stimulation was compared with repetitive nerve stimulation to a distal and a proximal muscle and with single fiber needle electromyography in 10 patients with myasthenia gravis. We conclude that the double-step technique is slightly more sensitive than repetitive nerve sti...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880100306
更新日期:1987-03-01 00:00:00
abstract::Guillain-Barré syndrome (GBS) is an inflammatory polyradiculoneuropathy associated with numerous viral infections. Recently, there have been many case reports describing the association between coronavirus disease-2019 (COVID-19) and GBS, but much remains unknown about the strength of the association and the features ...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.27024
更新日期:2020-10-01 00:00:00
abstract::Injection of low-dose arachidonic acid into the rat femoral artery occludes the vasa nervorum of the tibial nerve and produces focal and generalized ischemia with transient effects on nerve conduction. Across a severely ischemic segment of the proximal tibial nerve there is a marked fall in amplitude of the compound m...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880090411
更新日期:1986-05-01 00:00:00
abstract::Technical and instrumentation factors play an important role in obtaining reliable information during electrodiagnostic studies. With contemporary electrodiagnostic equipment, neurophysiologic potentials are detected using a variety of electrodes and undergo differential amplification, filtering, conversion to digital...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880180803
更新日期:1995-08-01 00:00:00
abstract::Intravenous immunoglobulin (IVIg) is a useful tool in the treatment of a variety of neuromuscular disorders. Though IVIg therapy is generally safe, hemolytic anemia is a potentially serious complication that is often overlooked, and is currently not listed in product inserts. We analyzed 45 patients who received IVIg ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199709)20:9<1142::aid-mus8
更新日期:1997-09-01 00:00:00
abstract::Nerve guides seeded with Schwann cells (SCs) promote axonal regeneration in peripheral nerve lesions. We examined the applicability of bioluminescent imaging (BLI) for monitoring the fate of SCs in nerve guides after implantation. Rat SCs were transfected with the firefly luciferase (Fluc) gene and subsequently seeded...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21372
更新日期:2009-11-01 00:00:00
abstract::Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction. Skeletal muscle samples were obtained for carnitine analysis from control subjec...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20336
更新日期:2005-09-01 00:00:00
abstract::The aim of this study was to investigate in control subjects the effect of imagery training on the torque of plantar-flexor muscles of the ankle. Twenty-nine subjects were allocated to one of three groups that performed either imagery training, low-intensity strength training, or no training (only measurements). The l...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/mus.10406
更新日期:2003-08-01 00:00:00
abstract:BACKGROUND:Ankle foot orthoses (AFOs) are commonly prescribed to individuals with Charcot-Marie-Tooth disease (CMT). The aim of this study was to evaluate patient reported satisfaction with orthotic devices and services in individuals with CMT to provide preliminary data for advancing AFO development and improving clin...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.27027
更新日期:2021-01-01 00:00:00
abstract::Inhibitory reflex responses to electrical stimulation of the mental nerve were studied in recordings from single motor units (SMU) in the human masseter muscle. A new analytical technique for spike train data was used. Electrical stimuli were delivered to the mental nerve when the SMU fired with two consecutive inter-...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/(sici)1097-4598(200002)23:2<259::aid-mus18
更新日期:2000-02-01 00:00:00
abstract::Motor evoked potentials (MEPs) obtained by electrical root stimulation and F waves were used to examine the proximal nerve conduction velocity (CV) to tibialis anterior (TA), extensor digitorum brevis (EDB), flexor carpi radialis (FCR), and abductor pollicis brevis (APB) muscles in 40 humans. By subtracting motor late...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880181105
更新日期:1995-11-01 00:00:00
abstract::There were 31 Duchenne patients placed on overnight mouth intermittent positive pressure ventilation for severe respiratory insufficiency at the average age of 19.9 years. Most patients had vital capacities less than 200 cc at their last evaluations. Of these, 23 patients are alive at the average age of 27 years and l...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880100212
更新日期:1987-02-01 00:00:00
abstract::We studied the mechanism underlying acute organophosphate intoxication (OPI) through in-vivo and in-vitro electrophysiologic studies in rats injected with diisopropylfluorophosphate. Intoxicated rats showed weakness, repetitive compound muscle action potentials (CMAPs) in response to a single stimulus, and decremental...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880141207
更新日期:1991-12-01 00:00:00
abstract:INTRODUCTION:The morphological characteristics of skeletal muscles innervated caudal to a spinal cord injury (SCI) undergo dramatic phenotypic and microvascular changes. METHOD:Female Sprague-Dawley rats received a severe contusion at thoracic level 9/10 and were randomly assigned to locomotor training, epidural stimu...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26379
更新日期:2019-03-01 00:00:00
abstract:INTRODUCTION:Tarsal tunnel syndrome (TTS) arises from tibial nerve damage under the flexor retinaculum of the fibro-osseus tunnel at the medial malleolus. It is notoriously difficult to diagnose, as many other foot pathologies result in a similar clinical picture. We examined the additional value of nerve ultrasound in...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24963
更新日期:2016-06-01 00:00:00
abstract:INTRODUCTION:Spinal and bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS) are motor neuron diseases. Sensory impairment is sometimes observed, and electrophysiological involvement has been described in the sensory nerves of SBMA patients. We hypothesized that a sensory nerve conduction study (NCS) ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.22291
更新日期:2012-02-01 00:00:00
abstract::Skeletal muscle cells are hypertrophied by mechanical stresses, but the underlying molecular mechanisms are not fully understood. Two signaling pathways, phosphatidylinositol 3-kinase (PI3K)/Akt to target of rapamycin (TOR) and extracellular signal-regulated kinase kinase (MEK) to extracellular signal-regulated kinase...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21473
更新日期:2010-01-01 00:00:00
abstract:INTRODUCTION:Pretreatment with pyridostigmine bromide (PB) of human intercostal muscle fibers exposed to the irreversible acetylcholinesterase (AChE) inhibitor soman was investigated. METHODS:Muscles were pretreated with 3 × 10(-6) M PB or saline for 20 minutes, then exposed to 10(-7) M soman for 10 minutes. RESULTS:...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21922
更新日期:2011-04-01 00:00:00