Stran 1 iz 31 rezultatov
OBJECTIVE
Spinal muscular atrophy (SMA) is a major inherited cause of infant death worldwide. It results from mutations in a single, ubiquitously expressed gene (SMN1), with loss of lower motor neurons being the primary pathological signature. Systemic defects have also been reported in SMA patients
Proximal Spinal Muscular Atrophy (SMA) is a debilitating neuromuscular disease and a leading inherited genetic cause of infant death. To date, there is no effective treatment for SMA. The SMNΔ7 neonatal mouse model of SMA recapitulates key features of the severe form of SMA and remains a valuable
Pelvic organ prolapse (POP) is a common medical condition that affects adult women of different ages. The support of a normal pelvic floor is the result of complex interactions between ligaments, muscles, connective tissue and vaginal walls. Hypoxia and oxidative stress can reduce protein synthesis
Background: Hypoxia induces cell injury in cardiomyocytes and leads to the development of cardiovascular diseases. The survival motor neuron protein (SMN) is a crucial ubiquitous protein whose functional deficiency causes motor neuron
A clinical and polygraphic study of nocturnal sleep was performed in 8 (4 males, 4 females; age range 10-37 years) patients with spinal muscular atrophy, whose baseline respiratory function assessment during wakefulness showed restrictive ventilatory syndrome but blood-gas tension within normal
Objective: The purpose of the study was to determine the extent and role of systemic hypoxia in the pathogenesis of spinal muscular atrophy (SMA).
Methods: Hypoxia was assayed
Hypoxemia may contribute to muscle wasting in conditions such as chronic obstructive pulmonary disease. Muscle wasting develops when muscle proteolysis exceeds protein synthesis. Hypoxia induces skeletal muscle atrophy in mice, which can in part be attributed to reduced food intake. We hypothesized
The vascular system of the spinal cord is particularly complex and vulnerable. Damage to the main vessels or alterations to the regulation of blood flow will result in a reduction or temporary cessation of blood supply. The resulting tissue hypoxia may be brief: acute, or long lasting: chronic.
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease associated with low levels of the essential survival motor neuron (SMN) protein. Reduced levels of SMN is due to the loss of the SMN1 gene and inefficient splicing of the SMN2 gene caused by a C>T mutation in exon 7. Global
BACKGROUND
We report a case of type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease.
METHODS
This was a descriptive case report. The patient was in the pediatric intensive care unit of a medical center.
METHODS
The patient was a 5 1/2 month-old male admitted to the emergency
Internalized capillaries, i.e. capillaries within muscle fibers, represent a rare myopathological feature. This was systematically studied in 923 muscle biopsy specimens and found in 24, chiefly in the gastrocnemius muscle, more rarely in the biceps and quadriceps muscles affecting males more often
Freeze fracture replicas of neuromuscular junctions from normal human patients and those with facioscapulohumeral and limb girdle muscular dystrophies, progressive muscular atrophy, and myasthenia gravis were examined by stereoscopic electron microscopy. Endplates from most human patients closely
We report a 37-year-old woman with slowly developing muscular weakness for 2 years following insidious stiffness of calf muscle. Serum CK was elevated up to 4,207 IU/l. She presented sleepiness, weakness of proximal and truncal muscles and systemic muscular atrophy. While she had not experienced
1. Prolonged exposure of the extremities to cold insufficient to cause tissue freezing produces a well-defined syndrome. 'Immersion foot' is one of the descriptive but inaccurate terms applied to this syndrome. The clinical features, aetiology, pathology, prevention, and treatment of immersion foot
It is well established that developmental maturity is a key factor regulating the response of lower motor neurons to injury. The influence of age on the survival of motor neuron cell somata following axotomy is well documented, but it remains unclear whether maturity also influences the degeneration