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showing 10 items of 16837 documents
Glucocorticoid-sensitive hereditary inclusion body myositis.
1996
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.
Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model
2012
SummaryMyotonic dystrophy type 1 (DM1) is a genetic disease caused by the pathological expansion of a CTG trinucleotide repeat in the 3' UTR of the DMPK gene. In the DMPK transcripts, the CUG expansions sequester RNA-binding proteins into nuclear foci, including transcription factors and alternative splicing regulators such as MBNL1. MBNL1 sequestration has been associated with key features of DM1. However, the basis behind a number of molecular and histological alterations in DM1 remain unclear. To help identify new pathogenic components of the disease, we carried out a genetic screen using a Drosophila model of DM1 that expresses 480 interrupted CTG repeats, i(CTG)480, and a collection of…
Range of Motion and Injury Occurrence in Elite Spanish Soccer Academies. Not Only a Hamstring Shortening-Related Problem.
2020
Sanz, A, Pablos, C, Ballester, R, Sanchez-Alarcos, JV, and Huertas, F. Range of motion and injury occurrence in elite Spanish soccer academies. Not only a hamstring shortening-related problem. J Strength Cond Res 34(7): 1924-1932, 2020-Age-related development of range of motion (ROM) during an active hip flexion (active straight leg raise) and its relationship with hamstring injury occurrence were examined in 1657 young male soccer players (9-18 years of age). Age-related differences in ROM showed a significant decrease from U9 to U11 (p = 0.001), from U11 to U13 (p0.005), and from U9 to U13 (p0.001), whereas ROM increased from U13 to U15 and from U13 to U18 (both p's0.001). Interestingly, …
Type V collagen counteracts osteo-differentiation of human mesenchymal stem cells
2014
In search of novel gene signatures for osteo-differentiation of mesenchymal stem cells (MSCs), we submitted cDNA preparations from undifferentiated and differentiating MSCs to differential display- and semiquantitative-PCR and found down-regulation of COL5A1 in osteo-induced cultures at days 21 and 28, when the mineralized matrix accumulates. We also cultured osteo-differentiating MSCs onto type V collagen substrates and found a decrease in the accumulation of extracellular calcium compared to those grown in uncoated flasks. To our knowledge, this is first evidence that type V collagen might represent a stromal component that impairs osteogenesis.
MUSCLE BIOENERGETIC ABNORMALITY IN MYOTONIC-DYSTROPHY - A SECONDARY MITOCHONDRIAL DISORDER
1993
International audience; Abstract: The thenar muscles and gastrocnemius of a patient with myotonic dystrophy were investigated, at rest, by phosphorus nuclear magnetic resonance spectroscopy. A decrease in phosphocreatine level and an increase in inorganic phosphate and phosphodiester levels were found in the gastrocnemius, which was clinically spared, whilst the thenar muscles, which were wasted and affected by myotonia, exhibited only an increased inorganic phosphate level and an elevated pH. These findings were comparable with those found in other muscular disorders, such as Duchenne's and Becker's dystrophies, as well as in limb girdle dystrophy. They suggested that the abnormalities obs…
Uso de la tomografía computarizada en el diagnóstico de la anquilosis de la articulación temporomandibular: Presentación de dos casos clínicos
2006
La anquilosis de la articulación temporomandibular es definida como la abolición o limitación de los movimientos de dicha articulación. Radiográficamente la anquilosis demuestra aspectos bien característicos que facilitan el diagnóstico, sin embargo, su análisis en las técnicas radiográficas convencionales, en la mayoría de las veces, no se presenta de forma clara. Con la evolución de las técnicas radiográficas, la tomografía computarizada pasó a ser un examen de gran importancia en el diagnóstico de las anquilosis temporomandibulares. En vista de ello, el presente trabajo se propone mostrar y describir imágenes tomográficas de la anquilosis de esta articulación, presentando dos casos clíni…
The effects of post-translational processing on dystroglycan synthesis and trafficking1
2003
Dystroglycan is a component of the dystrophin glycoprotein complex that is cleaved into two polypeptides by an unidentified protease. To determine the role of post-translational processing on dystroglycan synthesis and trafficking we expressed the dystroglycan precursor and mutants thereof in a heterologous system. A point mutant in the processing site, S655A, prevented proteolytic cleavage but had no effect upon the surface localisation of dystroglycan. Mutation of two N-linked glycosylation sites that flank the cleavage site inhibited proteolytic processing of the precursor. Furthermore, chemical inhibition of N- and O-linked glycosylation interfered with the processing of the precursor a…
Influence of Aerobic Exercise After Static Stretching on Flexibility and Strength in Plantar Flexor Muscles
2020
Aerobic exercise could improve stretch-induced strength deficits. However, mechanisms of the improvement were unclear. The purpose of the study was to examine the effects of aerobic exercise after static stretching (SS) on flexibility and isometric strength in ankle plantar-flexor muscles. Fifteen healthy males received two interventions after SS of their ankle plantar-flexor muscles for 5 min. One was aerobic exercise for 10-min on a cycling ergometer, and the other was a 10-min rest as a control. Range of motion (ROM) of ankle dorsiflexion, passive torque at terminal ROM, muscle-tendon unit (MTU) stiffness, muscle tendon junction displacement, peak torque of ankle plantarflexion, and the …
Biomechanical factors affecting energy cost during running utilising different slopes
2020
This study aimed to examine the characteristics of electromyography (EMG) and kinematics of the supporting leg affecting energy cost while running at incline, level, and decline slopes. Twelve male Japanese middle- and long-distance runners volunteered for this study. The subjects were asked to run at 13.5 km·h−1 on a treadmill under three slope conditions. Sagittal plane kinematics and the EMG of the lower limb muscles, respiratory gases were recorded. Energy cost differed significantly between slopes, being the lowest in decline slope and the greatest in incline slope. Integrated EMG (iEMG) of leg extensor muscles was greater in the incline slope than in the decline slope, and iEMG of the…
Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice.
2012
Adeno-associated virus (AAV)-U7-mediated skipping of dystrophin-exon-23 restores dystrophin expression and muscle function in the mdx mouse model of Duchenne muscular dystrophy. Soluble activin receptor IIB (sActRIIB-Fc) inhibits signaling of myostatin and homologous molecules and increases muscle mass and function of wild-type and mdx mice. We hypothesized that combined treatment with AAV-U7 and sActRIIB-Fc may synergistically improve mdx muscle function. Bioactivity of sActRIIB-Fc on skeletal muscle was first demonstrated in wild-type mice. In mdx mice we show that AAV-U7-mediated dystrophin restoration improved specific muscle force and resistance to eccentric contractions when applied a…