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Sökning: L773:0148 639X

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21.
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22.
  • Gawlik, Kinga, et al. (författare)
  • Transgenic overexpression of laminin 1 chain in laminin 2 chain-deficient mice rescues the disease throughout the lifespan
  • 2010
  • Ingår i: Muscle and Nerve. - : Wiley. - 0148-639X .- 1097-4598. ; 42:1, s. 30-37
  • Tidskriftsartikel (refereegranskat)abstract
    • Several approaches to treat laminin alpha 2 chain-deficient congenital muscular dystrophy (MDC1A) in mouse models have been undertaken. Most have shown promising results in young animals. However, older animals have only been characterized to some extent. Herein we analyze the lifespan of laminin alpha 2 chain deficient mice with transgenic overexpression of laminin alpha 1 chain. Further outcome measures included internalized myonuclei, heart fibrosis, grip strength, and serum creatine kinase activity. We show that laminin alpha 2-chain-deficient animals that overexpress laminin alpha 1 chain survive to up to 1.5-2 years of age. Furthermore, they displayed improved skeletal and heart muscle morphology, near-normal muscle strength, and normalized creatine kinase levels. Such an improvement of the dystrophic phenotype that persists to old age has not been previously demonstrated in mice. Our findings hold promise with regard to the efficient treatment of MDC1A patients in the future. Muscle Nerve 42: 30-37, 2010
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23.
  • Giambini, Hugo, et al. (författare)
  • INTRAMUSCULAR FAT INFILTRATION EVALUATED BY MAGNETIC RESONANCE IMAGING PREDICTS THE EXTENSIBILITY OF THE SUPRASPINATUS MUSCLE
  • 2018
  • Ingår i: Muscle and Nerve. - : WILEY. - 0148-639X .- 1097-4598. ; 57:1, s. 129-135
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Rotator cuff (RC) tears result in muscle atrophy and fat infiltration within the RC muscles. An estimation of muscle quality and deformation, or extensibility, is useful in selecting the most appropriate surgical procedure. We determined if noninvasive quantitative assessment of intramuscular fat using MRI could be used to predict extensibility of the supraspinatus muscle. Methods: Seventeen cadaveric shoulders were imaged to assess intramuscular fat infiltration. Extensibility and histological evaluations were then performed. Results: Quantitative fat infiltration positively correlated with histological findings and presented a positive correlation with muscle extensibility (r=0.69; P=0.002). Extensibility was not significantly different between shoulders graded with a higher fat content versus those with low fat when implementing qualitative methods. Discussion: A noninvasive prediction of whole-muscle extensibility may directly guide pre-operative planning to determine if the torn edge could efficiently cover the original footprint while aiding in postoperative evaluation of RC repair.
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24.
  • Gil-Vila, Albert, et al. (författare)
  • COVID-19 Vaccination In Autoimmune Diseases (COVAD) Study : Vaccine Safety In Idiopathic Inflammatory Myopathies
  • 2022
  • Ingår i: Muscle and Nerve. - : John Wiley & Sons. - 0148-639X .- 1097-4598. ; 66:4, s. 426-437
  • Tidskriftsartikel (refereegranskat)abstract
    • INTRODUCTION/AIMS: We studied COVID-19 vaccination-related adverse events (ADEs) 7-days post-vaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs).METHODS: 7-day vaccine ADEs were collected in an international patient self-reported e-survey. Descriptive statistics and multivariable regression were performed.RESULTS: 10,900 respondents [1227 IIMs; 4640 SAIDs; 5033 healthy controls (HCs), median age 42 (IQR 30-55) years, 74% female, 45% Caucasian, 69% completely vaccinated] were analysed. 76.3% IIMs patients reported minor and 4.6% major ADEs. Patients with active IIMs reported more frequent major [OR 2.7 (1.04-7.3)] and minor [OR 1.5 (1.1-2.2)] ADEs than inactive IIMs. Rashes were more frequent in IIMs [OR-2.3(1.2-4.2)] than HCs. ADEs were not impacted by steroid dose, although hydroxychloroquine and intravenous/subcutaneous immunoglobulins were associated with a higher risk of minor ADEs [OR 1.9 (1.1-3.3), OR 2.2 (1.1-4.3)]. Overall, ADEs were less frequent in inclusion body myositis (IBM) and BNT162b2 (Pfizer) vaccine recipients DISCUSSION: 7-day post-vaccination ADEs were comparable in patients with IIMs, SAIDs, and HCs, except for a higher risk of rashes in IIMs. Patients with DM, active disease may be at higher risk, and IBM patients at lower risk of specific ADEs. Overall, the benefit of preventing severe COVID-19 through vaccination likely outweighs the risk of vaccine-related ADEs Our results may inform future guidelines regarding COVID-19 vaccination in patients with SAIDs, and specifically in IIMs. Studies to evaluate long-term outcomes and disease flares are needed to shed more light on developing future COVID-19 vaccination guidelines.
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28.
  • Hehir, Michael K., et al. (författare)
  • Myasthenia gravis patient and physician opinions about immunosuppressant reduction
  • 2020
  • Ingår i: Muscle and Nerve. - : Wiley. - 0148-639X .- 1097-4598. ; 61:6, s. 767-772
  • Tidskriftsartikel (refereegranskat)abstract
    • IntroductionTo reduce myasthenia gravis (MG) patient risk of immunosuppressant (IS) exposure adverse events (AEs), such as infections and malignancies, and to reduce treatment burden, international guidelines recommend decreasing IS dose in stable MG patients.MethodsOnline surveys were conducted of self‐identified MG patients and MG physician experts about the importance of IS dose reduction for MG patients who achieve prolonged periods of disease stability.ResultsEighty‐four percent of MG patients (n = 283) and 100% of physicians (n = 45) were concerned about long‐term IS‐associated AEs. Although both groups favored attempting IS reduction, they raised concerns including MG relapse, hospitalization, and uncertainty about the future. Presented with an estimated 12% significant relapse rate with IS dose reduction, 76% of patients would be willing to enroll in a randomized IS dose reduction trial.DiscussionPatients and physicians favor considering IS dose reduction but are also concerned about potential negative sequelae.
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30.
  • Henricson, E. K., et al. (författare)
  • The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
  • 2013
  • Ingår i: Muscle & Nerve. - : Wiley. - 0148-639X. ; 48:1, s. 55-67
  • Tidskriftsartikel (refereegranskat)abstract
    • Introduction: Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. Methods: The Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, ages 2-28 years. A comprehensive battery of measures was obtained. Results: A novel composite functional milestone scale scale showed clinically meaningful mobility and upper limb abilities were significantly preserved in GC-treated adolescents/young adults. Manual muscle test (MMT)-based calculations of global strength showed that those patients <10 years of age treated with steroids declined by 0.4 +/- 0.39 MMT unit/year, compared with -0.4 +/- 0.39 MMT unit/year in historical steroid-naive subjects. Pulmonary function tests (PFTs) were relatively preserved in steroid-treated adolescents. The linearity and magnitude of decline in measures were affected by maturational changes and functional status. Conclusions: In DMD, long-term use of GCs showed reduced strength loss and preserved functional capabilities and PFTs compared with previous natural history studies performed prior to the widespread use of GC therapy.
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