Sparing of the flexor carpi ulnaris in ulnar neuropathy at the elbow.

abstract：INTRODUCTION:Autosomal dominant haploinsufficiency of GATA2 causes monocytopenia and natural killer cell lymphopenia, resulting in predisposition to mycobacterial, fungal, and viral infections. METHODS:Herein we report on the clinical, serologic, electrophysiologic, and pathologic evaluations of a 29-year-old woman wi...

journal_title：Muscle & nerve

authors： Kazamel M,Klein CJ,Benarroch EE,Patnaik MM,Tracy JA

更新日期：2018-01-01 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

authors： Goodwin AM,Cornett KMD,McKay MJ,Burns J,Garber CE,De Vivo DC,Montes J

更新日期：2020-03-01 00:00:00

abstract：INTRODUCTION:We describe a novel, clinically applicable conduction study of the laryngeal nerves. METHODS:Seventeen normal volunteer subjects were included. Activation of the sensory territory of the superior laryngeal nerve was performed by administration of low level brief electrical stimuli. The laryngeal closure r...

journal_title：Muscle & nerve

authors： Carey B,Sulica L,Wu A,Branski R

更新日期：2013-03-01 00:00:00

abstract：:Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We des...

journal_title：Muscle & nerve

authors： Nadeau A,Therrien C,Karpati G,Sinnreich M

更新日期：2008-03-01 00:00:00

abstract：:In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic...

journal_title：Muscle & nerve

authors： Carpenter D,Ismail A,Robinson RL,Ringrose C,Booms P,Iles DE,Halsall PJ,Steele D,Shaw MA,Hopkins PM

更新日期：2009-10-01 00:00:00

abstract：:Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, inclu...

journal_title：Muscle & nerve

authors： Bachinski LL,Sirito M,Böhme M,Baggerly KA,Udd B,Krahe R

更新日期：2010-12-01 00:00:00

abstract：:The myogenic regulatory factor MyoD plays an important role in embryonic and adult skeletal muscle growth. Even though it is best known as a marker for activated satellite cells, it is also expressed in myonuclei, and its expression can be induced by a variety of different conditions. Several model systems have been u...

journal_title：Muscle & nerve

authors： Legerlotz K,Smith HK

更新日期：2008-09-01 00:00:00

abstract：:Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A ...

journal_title：Muscle & nerve

authors： Slonim AE,Bulone L,Minikes J,Hays AP,Shanske S,Tsujino S,DiMauro S

更新日期：2006-04-01 00:00:00

abstract：:n-Hexane neuropathy was studied in 20 workers exposed for prolonged periods to this solvent, and with urinary 2,5-hexanedione concentrations exceeding the biological exposure index recommended by the American Conference of Governmental Industrial Hygienists (5 mg/L) with a mean of 11.02 mg/L (range 5.3-24.2 mg/L). Alt...

journal_title：Muscle & nerve

authors： Pastore C,Marhuenda D,Marti J,Cardona A

更新日期：1994-09-01 00:00:00

abstract：:In spite of extensive studies it is unclear whether impaired fasting glucose (IFG) or impaired glucose tolerance (IGT), i.e., impaired glucose metabolism (IGM), causes diabetic sensorimotor polyneuropathy (DSPN) or chronic idiopathic axonal polyneuropathy (CIAP); the results and conclusions vary considerably in differ...

journal_title：Muscle & nerve

authors： Dyck PJ,Dyck PJ,Klein CJ,Weigand SD

更新日期：2007-10-01 00:00:00

abstract：:Three children presented at birth with axial hypotonia and symmetrical flaccid paresis limited to the upper extremities, and involving proximal and distal muscle groups. At birth, palmar flexion creases were poorly developed, and the hand muscles were atrophic. These clinical features, the muscle biopsy findings, and ...

journal_title：Muscle & nerve

authors： Darwish H,Sarnat H,Archer C,Brownell K,Kotagal S

更新日期：1981-03-01 00:00:00

abstract：:Acetylcholine receptor (AChR) metabolism was studied in muscle from juvenile and adult dogs with congenital myasthenia gravis (CMG) and their unaffected littermates. Although the amount of AChR in the junctional region of innervated CMG muscle fibers was 25% of normal, or less, denervation of CMG fibers resulted in th...

journal_title：Muscle & nerve

authors： Oda K,Lennon VA,Lambert EH,Palmer AC

更新日期：1984-11-01 00:00:00

abstract：:Sucrose gap and intra-axonal recording techniques were used to identify the types of ion channels and inward rectification that are present in regenerated axons of adult (greater than 8 weeks) rat sciatic nerve after crush injury. In sucrose gap recordings, 4-aminopyridine (4-AP) led to slight broadening of the compou...

journal_title：Muscle & nerve

authors： Gordon TR,Kocsis JD,Waxman SG

更新日期：1991-07-01 00:00:00

abstract：INTRODUCTION:We hypothesized that microvascular disturbances in muscle tissue play a role in the reduced exercise capacity in juvenile dermatomyositis (JDM). METHODS:Children with JDM, children with juvenile idiopathic arthritis (clinical controls), and healthy children performed a maximal incremental cycloergometric ...

journal_title：Muscle & nerve

authors： Habers GE,De Knikker R,Van Brussel M,Hulzebos E,Stegeman DF,Van Royen A,Takken T

更新日期：2013-01-01 00:00:00

abstract：INTRODUCTION:The molecular mechanism of immune-mediated necrotizing myopathy (IMNM) remains unknown. Autophagy impairment, described in autoimmune diseases, is a key process in myofiber protein degradation flux and muscle integrity and has not been studied in IMNM. METHODS:Muscle biopsies from patients with IMNM (n = ...

journal_title：Muscle & nerve

authors： Girolamo F,Lia A,Annese T,Giannini M,Amati A,D'Abbicco D,Tampoia M,Virgintino D,Ribatti D,Serlenga L,Iannone F,Trojano M

更新日期：2019-09-01 00:00:00

abstract：:The effects of hyperbaric exposure with high oxygen concentration on glucose and insulin levels and skeletal muscle-fiber properties were investigated in type 2 diabetic Goto-Kakizaki rats. Five-week-old rats were exposed to a hyperbaric environment (1.25 atmospheric pressure) with a high oxygen concentration (36%) fo...

journal_title：Muscle & nerve

authors： Yasuda K,Adachi T,Gu N,Matsumoto A,Matsunaga T,Tsujimoto G,Tsuda K,Ishihara A

更新日期：2007-03-01 00:00:00

abstract：:A treatment has been developed to alleviate muscle weakness in murine dystrophy. Cultured myoblasts from genetically normal mouse embryos were injected into the right soleus of 20-day-old normal or dystrophic mice. Hosts and donors were immunocompatible but exhibited different genotype markers. Donor cells produced GP...

journal_title：Muscle & nerve

authors： Law PK,Goodwin TG,Wang MG

更新日期：1988-06-01 00:00:00

abstract：:Although it has been shown that muscle magnetic resonance imaging (MRI) improves the phenotypic characterization of patients with neuromuscular disorders and allows accurate quantification of muscle and adipose tissue distribution, to date quantitative MRI has not been used to assess the therapeutic response in clinic...

journal_title：Muscle & nerve

authors： Pichiecchio A,Poloni GU,Ravaglia S,Ponzio M,Germani G,Maranzana D,Costa A,Repetto A,Tavazzi E,Danesino C,Moglia A,Bastianello S

更新日期：2009-07-01 00:00:00

abstract：INTRODUCTION:Skeletal muscle oxidative capacity decreases and fatigability increases after spinal cord injury. Transcription factor peroxisome proliferator-activated receptor δ (PPARδ) promotes a more oxidative phenotype. METHODS:We asked whether PPARδ overexpression could ameliorate these deficits in the medial gastr...

journal_title：Muscle & nerve

authors： Kim JA,Roy RR,Zhong H,Alaynick WA,Embler E,Jang C,Gomez G,Sonoda T,Evans RM,Edgerton VR

更新日期：2016-02-01 00:00:00

abstract：:Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in cho...

journal_title：Muscle & nerve

authors： Engel AG,Ohno K,Sine SM

更新日期：2003-01-01 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

authors： Yaar I,Mitz AR,Pottala EW

更新日期：1985-05-01 00:00:00

abstract：:Central fatigue is a subjective phenomenon which can be examined using transcranial magnetic stimulation (TMS). To assess central fatigue, we compared TMS and peripheral electrical stimulations in patients with central nervous system (CNS) lesions and controls before and after an exhaustive task. The recovery times of...

journal_title：Muscle & nerve

authors： Liepert J,Kotterba S,Tegenthoff M,Malin JP

更新日期：1996-11-01 00:00:00

abstract：INTRODUCTION:An enlarged tongue (macroglossia) has been reported in advanced-stage patients with amyotrophic lateral sclerosis (ALS). METHODS:In this study we examined the prevalence of macroglossia and analyzed clinical correlations in 65 ALS patients on tracheostomy-invasive ventilation (TIV). RESULTS:Macroglossia ...

journal_title：Muscle & nerve

authors： Matsuda C,Shimizu T,Nakayama Y,Haraguchi M,Hakuta C,Itagaki Y,Ogura A,Murata K,Taira M,Numayama T,Kinoshita M

更新日期：2016-09-01 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

authors： Sakai Y,Iwamura Y,Hayashi J,Yamamoto N,Ohkoshi N,Nagata H

更新日期：1999-02-01 00:00:00

abstract：:We studied the effects of a 12-week progressive resistance strength training program in weakened muscles of 5 patients with sporadic inclusion body myositis (IBM). Strength was evaluated with Medical Research Council (MRC) scale ratings and quantitative isometric and dynamic tests. Changes in serum creatine kinase (CK...

journal_title：Muscle & nerve

authors： Spector SA,Lemmer JT,Koffman BM,Fleisher TA,Feuerstein IM,Hurley BF,Dalakas MC

更新日期：1997-10-01 00:00:00

abstract：:To determine which sensory nerve conduction studies (S-NCS) are helpful in detecting supraclavicular axon loss brachial plexopathies, we selected 53 cases (of 417 reviewed) in whom complicating factors were absent and which, by needle electrode examination findings, involved only a single "truncal" element (upper, mid...

journal_title：Muscle & nerve

authors： Ferrante MA,Wilbourn AJ

更新日期：1995-08-01 00:00:00

abstract：:To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patie...

journal_title：Muscle & nerve

authors： Lamperti C,Fabbri G,Vercelli L,D'Amico R,Frusciante R,Bonifazi E,Fiorillo C,Borsato C,Cao M,Servida M,Greco F,Di Leo R,Volpi L,Manzoli C,Cudia P,Pastorello E,Ricciardi L,Siciliano G,Galluzzi G,Rodolico C,Santoro L

更新日期：2010-08-01 00:00:00

abstract：BACKGROUND:We aimed at evaluating the differential involvement of large myelinated Aβ-, small myelinated Aδ-, and unmyelinated C-fibers in patients with diabetic polyneuropathy and how they contribute to neuropathic pain. METHODS:We collected clinical and diagnostic test variables in 133 consecutive patients with diab...

journal_title：Muscle & nerve

authors： Galosi E,Di Pietro G,La Cesa S,Di Stefano G,Leone C,Fasolino A,Di Lionardo A,Leonetti F,Buzzetti R,Mollica C,Cruccu G,Truini A

更新日期：2021-01-01 00:00:00

abstract：:If anti-GM1 antibody plays a role in the axonal damage in Guillain-Barré syndrome, the common entrapment sites may be preferentially involved with evidence of axonal dysfunction. To assess this hypothesis, we studied nerve conduction across the cubital tunnel in 44 patients. Abnormal amplitude reduction of compound mu...

journal_title：Muscle & nerve

authors： Kuwabara S,Mori M,Ogawara K,Mizobuchi K,Hattori T,Koga M,Yuki N

更新日期：1999-07-01 00:00:00

abstract：INTRODUCTION:Posttraumatic elbow contracture is clinically challenging because injury often disrupts multiple periarticular soft tissues. Tissue specific contribution to contracture, particularly muscle, remains poorly understood. METHODS:In this study we used a previously developed animal model of elbow contracture. ...

journal_title：Muscle & nerve

authors： Dunham CL,Chamberlain AM,Meyer GA,Lake SP

更新日期：2018-12-01 00:00:00