Bone density and alendronate effects in Duchenne muscular dystrophy patients.

abstract：:As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemical analysis strongly ...

journal_title：Muscle & nerve

authors： Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NC

更新日期：2006-11-01 00:00:00

abstract：:We studied membrane ultrastructural localization of anionic phospholipids (AP) and sialic acid (SA) calcium binding sites in muscle biopsies from Duchenne muscular dystrophy (DMD) and 3 Becker's muscular dystrophy (BMD) patients using polymyxin B (PXB) and limulus polyphemus (LP) as cytochemical markers. We found that...

journal_title：Muscle & nerve

authors： Moggio M,Fagiolari G,Prelle A,Gallanti A,Sciacco M,Scarlato G

更新日期：1992-03-01 00:00:00

abstract：INTRODUCTION:Glucocorticosteroids (GC) are effective in slowing weakness in boys with Duchenne muscular dystrophy (DMD). METHODS:This is a multisite, 1-year, open-label trial of twice-weekly prednisolone (5 mg/kg/dose) in infants/young boys (0.4-2.4 years) with DMD. We compared changes in Bayley III Scales of Infant D...

journal_title：Muscle & nerve

authors： Connolly AM,Zaidman CM,Golumbek PT,Cradock MM,Flanigan KM,Kuntz NL,Finkel RS,McDonald CM,Iannaccone ST,Anand P,Siener CA,Florence JM,Lowes LP,Alfano LN,Johnson LB,Nicorici A,Nelson LL,Mendell JR,MDA DMD Clinical Resea

更新日期：2019-06-01 00:00:00

abstract：:Macroelectromyography is used to study the electrical activity of the entire motor unit. The amplitude of the motor unit action potential (MUP), recorded from a bared cannula, is dependent on the number and size of muscle fibers in the motor unit. In most situations of reinnervation the local fiber density (FD) as rec...

journal_title：Muscle & nerve

authors： Stålberg E

更新日期：1982-01-01 00:00:00

abstract：:Neurotrophic factors are growth factors or cytokines that are inducible polypeptides and permit intercellular communication. An explosion of information about neurotrophic factors is setting the stage for significant advances in neural disease therapy in the next century. The effects of these trophic factors are overl...

journal_title：Muscle & nerve

authors： Mitsumoto H,Tsuzaka K

更新日期：1999-08-01 00:00:00

abstract：:Immunocytochemical analysis of muscle specimens from 5 patients with acute quadriplegic myopathy indictes that depletion of either fast or slow myosin occurs in this disorder. The initial lesion consists of focal myosin loss in nonatrophic fibers. Other structural proteins (actin, titin, nebulin) are spared or affecte...

journal_title：Muscle & nerve

authors： Showalter CJ,Engel AG

更新日期：1997-03-01 00:00:00

abstract：:The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an A-->G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA. To date there have only been 10 reported cases of MELAS syndrome in patients with a T-->C mutation at position 3271...

journal_title：Muscle & nerve

authors： Tarnopolsky MA,Maguire J,Myint T,Applegarth D,Robinson BH

更新日期：1998-01-01 00:00:00

abstract：:There is evidence that growth hormone may be related to the progression of weakness in Duchenne dystrophy. We conducted a 12-month controlled trial of mazindol, a putative growth hormone secretion inhibitor, in 83 boys with Duchenne dystrophy. Muscle strength, contractures, functional ability and pulmonary function we...

journal_title：Muscle & nerve

authors： Griggs RC,Moxley RT 3rd,Mendell JR,Fenichel GM,Brooke MH,Miller PJ,Mandel S,Florence J,Schierbecker J,Kaiser KK

更新日期：1990-12-01 00:00:00

abstract：INTRODUCTION:In Duchenne muscular dystrophy (DMD), fat replacement of muscle may be a useful endpoint in trials of therapy, although progression in different muscle groups is uneven. In this study we assessed the progression of fat replacement with T(1) -weighted imaging over 2 9-month periods. METHODS:Eight ambulant,...

journal_title：Muscle & nerve

authors： Hollingsworth KG,Garrood P,Eagle M,Bushby K,Straub V

更新日期：2013-10-01 00:00:00

abstract：:To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more lik...

journal_title：Muscle & nerve

authors： Elsheikh B,Prior T,Zhang X,Miller R,Kolb SJ,Moore D,Bradley W,Barohn R,Bryan W,Gelinas D,Iannaccone S,Leshner R,Mendell JR,Mendoza M,Russman B,Smith S,King W,Kissel JT

更新日期：2009-10-01 00:00:00

abstract：:McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise-related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Amon...

journal_title：Muscle & nerve

authors： Nadaj-Pakleza AA,Vincitorio CM,Laforêt P,Eymard B,Dion E,Teijeira S,Vietez I,Jeanpierre M,Navarro C,Stojkovic T

更新日期：2009-09-01 00:00:00

abstract：INTRODUCTION:In preparation for clinical trials we examine the validity, reliability, and patient understanding of the Myotonic Dystrophy Health Index (MDHI). METHODS:Initially we partnered with 278 myotonic dystrophy type-1 (DM1) patients and identified the most relevant questions for the MDHI. Next, we used factor a...

journal_title：Muscle & nerve

authors： Heatwole C,Bode R,Johnson N,Dekdebrun J,Dilek N,Heatwole M,Hilbert JE,Luebbe E,Martens W,Mcdermott MP,Rothrock N,Thornton C,Vickrey BG,Victorson D,Moxley R 3rd

更新日期：2014-06-01 00:00:00

abstract：:Bacterial beta-galactosidase cDNA was injected without lipofectin into 41 sites in dog muscle and expression was seen in 22 of them. The cDNA and lipofectin was injected into 35 similar sites and expression was seen in 21. Expression was seen in a maximum of 2.5% of muscle fibers and 23.21% of nonmuscle cells. A total...

journal_title：Muscle & nerve

authors： Howell JM,Fletcher S,O'Hara A,Johnsen RD,Lloyd F,Kakulas BA

更新日期：1998-02-01 00:00:00

abstract：:The goal of this study was to examine the effects of altered thyroid state and denervation (Den) on skeletal myosin heavy chain (MHC) expression in the plantaris and soleus muscles. Rats were subjected to unilateral denervation (Den) and randomly assigned to one of three groups: (1) euthyroid; (2) hyperthyroid; (3) an...

journal_title：Muscle & nerve

authors： Haddad F,Arnold C,Zeng M,Baldwin K

更新日期：1997-12-01 00:00:00

abstract：INTRODUCTION:Improving axonal outgrowth and remyelination is crucial for peripheral nerve regeneration. Miconazole appears to enhance remyelination in the central nervous system. In this study we assess the effect of miconazole on axonal regeneration using a sciatic nerve crush injury model in rats. METHODS:Fifty Spra...

journal_title：Muscle & nerve

authors： Lin T,Qiu S,Yan L,Zhu S,Zheng C,Zhu Q,Liu X

更新日期：2018-05-01 00:00:00

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. ...

journal_title：Muscle & nerve

authors： 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 S

更新日期：2016-12-01 00:00:00

abstract：:Ultrasound (US) technique was applied to measure the thickness, cross-sectional area (CSA), and internal structure of the quadriceps muscle in 70- to 80-year-old endurance and power athletes and untrained men. Isometric knee extension strength was higher in the power athletes than in the other groups. The mean values ...

journal_title：Muscle & nerve

authors： Sipilä S,Suominen H

更新日期：1991-06-01 00:00:00

abstract：INTRODUCTION:Although there are numerous protocols to adjust the amplitude of the Hoffmann reflex (H-reflex) relative to the size of the direct motor response (M-response), the optimal stimulating location has not been described. We sought to determine the optimal positioning of the stimulating cathode when evoking the...

journal_title：Muscle & nerve

authors： Özyurt MG,Shabsog M,Dursun M,Türker KS

更新日期：2018-12-01 00:00:00

abstract：:Morvan's syndrome is a rare disorder characterized by neuromyotonia, hyperhidrosis, and central nervous system dysfunction. We report a patient with features of this syndrome, but who initially presented with breathing difficulties. Concentric needle electromyography showed an abundance of myokymic and neuromyotonic d...

journal_title：Muscle & nerve

authors： Löscher WN,Wanschitz J,Reiners K,Quasthoff S

更新日期：2004-08-01 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

authors： Graven-Nielsen T,Svensson P,McMillan AS,Arendt-Nielsen L

更新日期：2000-02-01 00:00:00

abstract：:Cultured human skin fibroblasts from 9 patients with Duchenne muscular dystrophy (DMD) and 8 normal age- and sex-matched controls were examined for creatine kinase (CK) activity. Both the normal and the DMD fibroblasts were found to have significant levels of CK activity (approximately 10 x 10(-3) IU per milligram of ...

journal_title：Muscle & nerve

authors： Davis MH,Cappel R,Vester JW,Samaha FJ,Gruenstein E

更新日期：1982-01-01 00:00:00

abstract：:There is a suprasegmental influence on the masseter reflex (MassR) in animals, which is mediated via the fifth nerve spinal nucleus (5SpN). Corresponding data in humans are lacking. Out of 268 prospectively recruited patients with clinical signs of acute brainstem infarctions, we identified 38 with magnetic resonance ...

journal_title：Muscle & nerve

authors： Thömke F,Marx JJ,Cruccu G,Stoeter P,Hopf HC

更新日期：2007-10-01 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

authors： Kissane RWP,Wright O,Al'Joboori YD,Marczak P,Ichiyama RM,Egginton S

更新日期：2019-03-01 00:00:00

abstract：INTRODUCTION:Intensive care unit (ICU) patients often develop weakness. Rehabilitation is initiated early to prevent physical deterioration, but knowledge of optimal training schedules is lacking. A reliable method to assess muscle activity during exercise is needed. In this study we explored the feasibility of electri...

journal_title：Muscle & nerve

authors： Sommers J,Van Den Boorn M,Engelbert RHH,Nollet F,Van Der Schaaf M,Horn J

更新日期：2018-11-01 00:00:00

abstract：:Three cases of chronic distal sensorimotor neuropathy are described in patients with neurofibromatosis. One had type 2 or central neurofibromatosis with a chromosome 22 deletion; the precise form of the disease was not established in the other two. A striking clinical feature was a diffuse nodular enlargement of the p...

journal_title：Muscle & nerve

authors： Thomas PK,King RH,Chiang TR,Scaravilli F,Sharma AK,Downie AW

更新日期：1990-02-01 00:00:00

abstract：:A common misconception attributes sparing of the flexor carpi ulnaris (FCU) in ulnar neuropathy at the elbow (UNE) to its innervating branch arising "at or above the elbow." We examined the relationship of FCU branches to the medial epicondyle (ME) and humeroulnar aponeurotic arcade (HUA) in 30 cadaver elbows. In only...

journal_title：Muscle & nerve

authors： Campbell WW,Pridgeon RM,Riaz G,Astruc J,Leahy M,Crostic EG

更新日期：1989-12-01 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

authors： Pollard JD,McLeod JG

更新日期：1981-07-01 00:00:00

abstract：:Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of...

journal_title：Muscle & nerve

authors： Scoppetta C,Vaccario ML,Casali C,Di Trapani G,Mennuni G

更新日期：1984-07-01 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

authors： Anderson JA,Ng JJ,Bowe C,McDonald C,Richman DP,Wollmann RL,Maselli RA

更新日期：2008-04-01 00:00:00

abstract：:Muscle fatigue or neuromuscular disease may result in central activation failure during maximal voluntary contractions (MVCs). Superimposition of an electrically stimulated contraction during an MVC has been used to detect central activation failure. To determine the most sensitive means of quantitating central activa...

journal_title：Muscle & nerve

authors： Kent-Braun JA,Le Blanc R

更新日期：1996-07-01 00:00:00