Abstract:
INTRODUCTION:In this study, we determined normal levels of dysferlin expression in CD14+ monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies. METHODS:Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software. RESULTS:The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut-off points, which allowed definition of 4 disease classification groups in a simplified algorithm. CONCLUSION:The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54: 1064-1071, 2016.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Sánchez-Chapul L,Ángel-Muñoz MD,Ruano-Calderón L,Luna-Angulo A,Coral-Vázquez R,Hernández-Hernández Ó,Magaña JJ,León-Hernández SR,Escobar-Cedillo RE,Vargas Sdoi
10.1002/mus.25156subject
Has Abstractpub_date
2016-12-01 00:00:00pages
1064-1071issue
6eissn
0148-639Xissn
1097-4598journal_volume
54pub_type
杂志文章相关文献
MUSCLE & NERVE文献大全abstract::Both high and low body mass index (BMI) have been reported as risk factors for ulnar neuropathy at the elbow (UNE), and a high BMI as a risk factor for carpal tunnel syndrome (CTS). To determine whether the extremes of BMI are risk factors for UNE or CTS, and whether BMI affects calculation of median and ulnar motor n...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20345
更新日期:2005-09-01 00:00:00
abstract::The cerebrospinal fluid (CSF) of patients with demyelinating neurological disease, such as Guillain-Barré syndrome or multiple sclerosis, contains factors that inhibit the excitatory Na+ current. Such antiexcitatory factors are occasionally also detectable in CSF from patients with other neurological diseases but were...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199601)19:1<54::AID-MUS7>3
更新日期:1996-01-01 00:00:00
abstract:INTRODUCTION:Our aim in this study was to determine whether intravenous immunoglobulin (IVIg) or plasma exchange (PLEx) for treatment of neurologic disease is a trigger for thrombotic events. METHODS:Using administrative data from 2005 to 2014, we identified index admissions for thrombotic events. We performed case-cr...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26884
更新日期:2020-09-01 00:00:00
abstract::The development of the personal computer has simplified the process of quantitating sensory thresholds using various testing algorithms. We reviewed the technical aspects and reproducibility of different methods to determine threshold for light touch-pressure, vibration, thermal, and pain stimuli. Clinical uses and li...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.20053
更新日期:2004-05-01 00:00:00
abstract::Ultrasound has been used for visualizing peripheral nerve pathology. Our goal was to use ultrasound to quantitate the sizes of upper extremity nerves along their length in control subjects and patients with neuropathy. We measured median and ulnar nerve cross-sectional areas (NCSA) in the arms of 190 subjects, includi...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21431
更新日期:2009-12-01 00:00:00
abstract::The American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) developed guidelines to formalize the ethical standards that neuromuscular and electrodiagnostic (EDx) physicians should observe in their clinical and scientific activities. Neuromuscular and EDx medicine is a subspecialty of medicine that ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24910
更新日期:2015-12-01 00:00:00
abstract::Implantation of normal muscle precursor cells (mpc) for treatment for inherited myopathies such as Duchenne muscular dystrophy is in clear need of improvement to become practicable, but few variables have been studied comparatively. Here, we report the first quantitative estimate of the effectiveness of implanting mpc...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199602)19:2<132::AID-MUS2>
更新日期:1996-02-01 00:00:00
abstract::We describe two cases of neuralgic amyotrophy with electrophysiological evidence of conduction block across the lower trunk of the brachial plexus. Low-output impedance stimulation of the cervical spinal roots in combination with collision was used to accurately demonstrate the conduction block. Complete electrophysio...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1041
更新日期:2001-04-01 00:00:00
abstract:INTRODUCTION:There have been few reports on subtypes of Guillain-Barré syndrome (GBS) in children. We compared clinical and laboratory findings of acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). METHODS:One hundred forty children with GBS were included. Based on...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25992
更新日期:2018-05-01 00:00:00
abstract:INTRODUCTION:The 6-minute walk test (6MWT) is a well-established clinical assessment of functional endurance, validated as a measure of walking ability in spinal muscular atrophy (SMA). The current availability of disease-modifying therapies for SMA indicates a growing need for normative reference data to compare SMA p...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26794
更新日期:2020-03-01 00:00:00
abstract::Muscle fatigue occurs in many neuromuscular diseases, including the muscular dystrophies, and it contributes to a loss of functional capacity and reduced quality of life for affected patients. An improvement in fatigue resistance has been observed in diaphragm muscles of mdx mice following insulin-like growth factor-I...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20082
更新日期:2004-09-01 00:00:00
abstract:INTRODUCTION:Myelinating Schwann cells compartmentalize their outermost layer to form actin-rich channels known as Cajal bands. Herein we investigate changes in Schwann cell architecture and cytoplasmic morphology in a novel mouse model of carpal tunnel syndrome. METHODS:Chronic nerve compression (CNC) injury was crea...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.22276
更新日期:2012-02-01 00:00:00
abstract::Mitochondrial trifunctional protein (TFP) deficiency is a rare disorder of the fatty acid beta-oxidation cycle with heterogeneous phenotypes and occurs secondary to either alpha- or beta-subunit mutations. We characterized the neuromyopathic phenotype of TFP deficiency through adolescence or adulthood in 11 patients, ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10500
更新日期:2004-01-01 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 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::Patients (n = 41) with isolated weakness of the eyelids or extraocular muscles, who had been referred for single fiber electromyography (SFEMG), were followed up after 4 to 24 months, At follow-up the patients were classified as "definite ocular myasthenia gravis" (MG), "definite other diagnosis," or "no definite diag...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880150322
更新日期:1992-03-01 00:00:00
abstract:INTRODUCTION:Motor unit number estimates (MUNEs) provide important information in health, aging, and disease, and can be determined using decomposition-enhanced spike-triggered averaging (DE-STA). Discrimination of surface-detected motor unit potentials (S-MUPs) has been limited to contractile forces of ∽30% maximum vo...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24092
更新日期:2014-07-01 00:00:00
abstract::Many patients with the limb-girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human Dok-7 gene (DOK7). We identified six unrelated CMS patients with DOK7 mutations. Two patients, one mildly and the other moderately affected, were homozygous for the previously described 1263insC mutation. ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20944
更新日期:2008-04-01 00:00:00
abstract::Familial amyotrophic lateral sclerosis (ALS) with the autosomal-recessively inherited D90A CuZn-superoxide dismutase (CuZn-SOD) mutation is characterized by a stereotypic slowly progressive, distinctive phenotype and very slow central motor conduction. To determine the basis of this slowing, we assessed corticomotoneu...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/1097-4598(200101)24:1<89::aid-mus10>3.0.co
更新日期:2001-01-01 00:00:00
abstract:INTRODUCTION:Peripheral nerve injuries (PNI) are among the leading causes of physical disability in the United States. The majority of injuries occur in the upper extremities, and functional recovery is often limited. Robust animal models are critical first steps for developing effective therapies to restore function a...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25590
更新日期:2017-12-01 00:00:00
abstract::In median nerve lesions of the hand, electrophysiologic evaluation of the second lumbrical muscle can help to differentiate between lesions of the common digital nerves and the proper digital nerves, as illustrated by this case report. Median nerve conduction studies to the second lumbrical muscle can be performed by ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880090303
更新日期:1986-03-01 00:00:00
abstract::A chronic high alcohol intake was induced in rats through the use of two procedures: the schedule-induced polydipsia technique and the liquid diet technique. Rats consumed 11-12 g of ethanol per kilogram body weight per day for 16 to 18 weeks. Morphologic evidence of a mild distal axonal neuropathy in the ventral caud...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880020208
更新日期:1979-03-01 00:00:00
abstract::Biochemical, morphologic, and biophysical studies support the concept that the red blood cell (RBC) membrane is altered in both myotonic muscular dystrophy (MyD) and Duchenne muscular dystrophy (DMD). These studies have not identified a primary metabolic defect that would explain the various alterations of membrane pr...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880030108
更新日期:1980-01-01 00:00:00
abstract:INTRODUCTION:Muscle fiber denervation increases with age, yet studies at the tissue level are sparse due to the challenging nature of establishing the relative role of regeneration and denervation. METHODS:Muscle biopsies were obtained from the vastus lateralis of 70 healthy men (aged 72 ± 6 years; range, 65-94). Mess...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26638
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:Lower limb strength has never been characterized separately for late-onset and adult myotonic dystrophy type 1 (DM1) phenotypes. METHODS:The purpose of this study was to: (1) describe and compare lower limb strength between the 2 DM1 phenotypes; and (2) compare the impairment profiles obtained from 2 asse...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25451
更新日期:2017-07-01 00:00:00
abstract::Since peripheral nerve has a large ischemic safety factor, hypothermia, by reducing metabolic demands, is potentially an efficacious technique to rescue nerve from ischemic fiber degeneration (IFD). We therefore evaluated the influence of temperature on the severity of IFD resulting from a standard ischemic stress. Is...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199602)19:2<203::AID-MUS12
更新日期:1996-02-01 00:00:00
abstract::Motoneurons can be activated both reflexly and antidromically following electrical stimulation of peripheral nerves. These H reflexes and F waves are clinically useful responses which interface at the level of the peripheral nerves and the spinal cord. Because these responses are commonly employed in the electrodiagno...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880151102
更新日期:1992-11-01 00:00:00
abstract::We measured distal sympathetic and vagal function in 73 consecutive patients with diabetic neuropathy seen at the Mayo Autonomic Reflex Laboratory. Postganglionic sympathetic failure measured proximally within the foot occurred as commonly as vagal failure (58% and 55%, respectively) and occurred much more frequently ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880090703
更新日期:1986-09-01 00:00:00
abstract::Force fluctuations in leg muscles increase after bedrest, perhaps due to modulation of the neural strategy that is specific to a muscle or common to agonist muscles. The purpose of this study was to examine the modulation of muscle activity and force fluctuations during steady contractions with variable involvement of...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20764
更新日期:2007-06-01 00:00:00
abstract::Although conduction block indicates dysfunction of peripheral nerve, it may occur in patients with clinically typical motor neuron disease. There are no universally accepted criteria to identify conduction block, so diagnosis may be difficult. In some peripheral neuropathies, conduction block persists over long period...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880160903
更新日期:1993-09-01 00:00:00