In this chapter, we discuss the indications for muscle, nerve, and skin biopsies, the techniques and normal processing of biopsy specimens, normal histological appearance, and the commonest histopathological abnormalities of different myopathies and neuropathies.
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Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.
Cell Death Dis
January 2025
Department of Anatomical, Histological, Forensic Sciences and Orthopedics, Sapienza University of Rome, 00161, Rome, Italy.
Sarcoglycanopathies are heterogeneous proximo-distal diseases presenting severe muscle alterations. Although there are 6 different sarcoglycan isoforms, sarcoglycanopathies are caused exclusively by mutations in genes coding for one of the four sarcoglycan transmembrane proteins (alpha, beta, gamma and delta) forming the sarcoglycan complex (SGC) in skeletal and cardiac muscle. Little is known about the different roles of the SGC beyond the dystrophin glycoprotein complex (DGC) structural role.
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PLoS One
January 2025
School of Sport Medicine and Rehabilitation, Beijing Sport University, Beijing, China.
Motor dysfunction and muscle atrophy are typical symptoms of patients with spinal cord injury (SCI). Exercise training is a conventional physical therapy after SCI, but exercise intervention alone may have limited efficacy in reducing secondary injury and promoting nerve regeneration and functional remodeling. Our previous research found that intramedullary pressure after SCI is one of the key factors affecting functional prognosis.
View Article and Find Full Text PDFIn vivo mapping of sodium homeostasis disturbances in individual ALS patients: A brain 23Na MRI study.
PLoS One
January 2025
CNRS, CRMBM, Aix Marseille Univ, Marseille, France.
Objective: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by significant heterogeneity among patients. 23Na MRI maps abnormal sodium homeostasis that reflects metabolic alterations and energetic failure contributing to the neurodegenerative process. In this study, we investigated disease severity at the individual level in ALS patients using brain 23Na MRI.
View Article and Find Full Text PDFDown syndrome, resulting from trisomy of human chromosome 21, is a common form of chromosomal disorder that results in intellectual disability and altered risk of several medical conditions. Individuals with Down syndrome have a greatly increased risk of Alzheimer's disease (DSAD), due to the presence of the APP gene on chromosome 21 that encodes the amyloid-β precursor protein (APP). APP can be processed to generate amyloid-β, which accumulates in plaques in the brains of people who have Alzheimer's disease and is the upstream trigger of disease.
View Article and Find Full Text PDFEffect of dry needling, ischemic compression and cross-taping of the masseter in patients with orofacial myofascial pain: a randomized comparative study.
Front Oral Health
January 2025
Department of Surgery, Faculty of Medicine, University of Salamanca, Salamanca, Spain.
Background And Objective: Temporomandibular disorders, of multifactorial etiology, refer to a series of pathologies that affect the temporomandibular joint and the associated musculature of the orofacial region and are the result of alterations in the physiological relationships of the stomatognathic system, responsible for functions such as chewing, phonation and swallowing. They produce, among other symptoms, mainly pain, which affects the quality of life of the patients who suffer from them. To alleviate the discomfort of neuromuscular pathology in the orofacial region, various therapeutic strategies are employed, ranging from non-invasive to more invasive methods.
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