Search results for "Muscular Atrophy"
showing 10 items of 73 documents
Apoptosis-related Proteins in Skeletal Muscle Fibers of Spinal Muscular Atrophy
1997
There is evidence that apoptosis in spinal muscular atrophies (SMA) is not restricted to motor neurons but also affects muscle fibers. Studying the expression of several apoptosis-associated proteins we found constant expression of bax in muscle fibers, which promoted cell death. The expression of bax correlated with defective innervation of muscle fibers was also indicated by upregulation of N-CAM. While in early-onset SMA atrophic as well as normo- and hypertrophic muscle fibers displayed expression of bax, muscle fibers in late-onset SMA and peripheral neuropathies showed bax-expression only in atrophic fibers. Other investigated apoptosis-associated factors comprised interleukin-1 beta …
Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prosp…
2018
International audience; Erratum inCorrigendum to "Neuromuscular electrophysiological disorders and muscle atrophy in mechanically-ventilated traumatic brain injury patients: New insights from a prospective observational study" [J Crit Care 44 (2018) 87-94]. [J Crit Care. 2019]AbstractPURPOSE:It is unclear whether the muscular changes in mechanically-ventilated traumatic brain injury patients (TBI) are only associated with disuse or additionally to neuromuscular electrophysiological disorders (NED). The correlation between muscle atrophy and NED may affect functional outcomes and rehabilitation programs significantly.MATERIAL AND METHODS:An observational study was performed to investigate th…
Functional properties of motor units in motor neuron diseases and neuropathies.
1997
The relationship between the size of single motor unit (MU) action potentials and their twitch properties was estimated in patients with spinal muscular atrophy (SMA, n = 5) and amyotrophic lateral sclerosis (ALS, n = 10), as well as in patients with peripheral nerve lesions (PNL, n = 9). The data obtained from these groups were compared to normal controls (n = 8). In controls, the single MU twitch force was highly correlated to the corresponding EMG potential size in terms of macro EMG area. An enlargement of MUs, due to collateral sprouting and reflected by increased potential size and twitch force, was found in regenerating PNL and in slowly progressing SMA. Both parameters were highly c…
Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in fo…
1997
Tay-Sachs disease is a genetically determined neurodegenerative disorder, resulting from mutations of the hexosaminidase (Hex) A gene coding for the alpha-subunit of beta-D-N-acetyl-hexosaminidase. Clinically, there is severe encephalomyelopathy leading to death within the first few years of life. Hex A activity is usually absent in tissue and body fluids of these patients. Juvenile and adult Hex A deficiencies are less severe but rare variants with some residual Hex A activity. All these variants are most prevalent among Ashkenazi Jews. We describe a non-Jewish family in which four adult brothers and sisters had markedly reduced Hex A activities and onset of symptoms in the second decade o…
Immunolocalization of Tenascin-C in Human Type II Fiber Atrophy
2000
Tenascin-C is a multifunctional extracellular matrix glycoprotein with stimulatory and anti-adhesive or inhibitory properties for axon growth. Its location and discontinuous expression are restricted in innervated muscle tissues. Tenascin-C accumulated interstitially among human denervated muscle fibers and close to normal-sized fibers. To expand our knowledge of the expression of tenascin-C in human neuromuscular disorders, we investigated immunohistologically 20 human muscle specimens with type II myofiber atrophy of children and adults. Tenascin-C immunoreactivity in adult type II atrophy was frequent, and accumulation in children was sparse and weak. In both groups, tenascin-C immunorea…
Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients.
2020
Background and purpose The purpose was to report the results of ultrasound-guided lumbar puncture for the administration of nusinersen in spinal muscular atrophy (SMA) patients with complex spines. Methods Eighteen SMA patients (five children, five adolescents and eight adults) with either severe scoliosis or spondylodesis were evaluated for ultrasound-guided lumbar puncture. Ultrasound was performed with a 3.5 MHz transducer to guide a 22 gauge × 15 mm needle, which was placed in the posterior lumbar space following a parasagittal interlaminar approach. Results Twelve patients had undergone spinal instrumentation (nine growing rods and three spinal fusion) whilst the other six showed sever…
Effects of fasting on skeletal muscles and body fat of adult and old C57BL/6J mice
2021
Fasting improves metabolic health, but is also associated with loss of lean body mass. We investigated if old mice are less resistant to fasting-induce muscle wasting than adult mice. We compared changes in skeletal muscles and fat distribution in C57BL/6J mice subjected to 48-hour fasting at adult (6-month old) or old (24-month old) age. Old mice lost less weight (11.9 ± 1.5 vs 16.9 ± 2.8%, p 0.001) and showed less (p 0.01) pronounced muscle wasting than adult mice. Extensor digitorum longus (EDL) muscle force decreased only in adult mice after fasting. Serum IGF-1 levels were higher (p 0.01) and showed greater (p 0.01) decline in adult mice compared to old mice. Phosphorylation of 4EB…
Effects of strength and endurance training on muscle fibrecharacteristics in elderly women
1997
The effects of 18 weeks' intensive strength and endurance training on fibre characteristics of the vastus lateralis muscle were studied in 76- to 78-year-old women. Type I and type IIa fibres constituted over 90% of the cell population and were almost equally represented. No changes were observed in the proportions of the different fibre types. When comparing the baseline and the 18-week measurements within the groups, the strength group showed a mean increase of 34% (P = 0.028) in mean type I fibre area. The frequency histograms showed an increased proportion of larger type I fibres after strength training and a decreased proportion of smaller type IIa fibres after endurance training. In t…
Deleting Full Length Titin Versus the Titin M-Band Region Leads to Differential Mechanosignaling and Cardiac Phenotypes
2019
Background: Titin is a giant elastic protein that spans the half-sarcomere from Z-disk to M-band. It acts as a molecular spring and mechanosensor and has been linked to striated muscle disease. The pathways that govern titin-dependent cardiac growth and contribute to disease are diverse and difficult to dissect. Methods: To study titin deficiency versus dysfunction, the authors generated and compared striated muscle specific knockouts (KOs) with progressive postnatal loss of the complete titin protein by removing exon 2 (E2-KO) or an M-band truncation that eliminates proper sarcomeric integration, but retains all other functional domains (M-band exon 1/2 [M1/2]-KO). The authors evaluated c…
The fine structure of denervated and reinnervated muscle spindles: morphometric study of intrafusal muscle fibers.
1979
The fine structure of normal, denervated, and reinnervated muscle spindles in lower lumbrical muscles of rats was studied morphometrically at time intervals ranging from 3-14 months. In control spindles, the mean transverse area of mitochondria was estimated to be more than twice as large in nuclear chain than in typical nuclear bag fibers. Following denervation, there was a severe decrease of the mean number and transverse area of mitochondria, and a moderate, but statistically significant decrease of the mean transverse area of intrafusal muscle fibers (IMFs) despite an increase of the number of IMFs. At 12-14 months of reinnervation, changes of the transverse areas of IMFs were statistic…