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[Neuropathology I: muscular diseases]. [PDF]

Pathologie (Heidelb), 2023
Muscle diseases include hereditary and acquired diseases with clinical manifestation in both childhood and adulthood. The different muscle diseases may have ultrastructural alterations that help us further understand the pathology of the disease. Specific changes in sarcomere structure help to classify a congenital myopathy.
Schänzer A, Dittmayer C, Porubsky S, Weis J, Goebel HH, Stenzel W.   +5 more
europepmc   +3 more sources

Functional imaging in muscular diseases. [PDF]

Insights Imaging, 2011
AbstractObjectiveThe development of morphological and functional imaging techniques has improved the diagnosis of muscular disorders.MethodsWith the use of whole-body magnetic resonance imaging (MRI) the possibility of imaging the entire body has been introduced.
Amarteifio E, Nagel AM, Kauczor HU, Weber MA.   +3 more
europepmc   +4 more sources

Mitochondria and Muscular Diseases [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1982
D. Hayes, J. Clark
  +5 more sources

Intramuscular Hemangioma: A Rare Cause of Omalgia [PDF]

Revista Brasileira de Ortopedia, 2023
Intramuscular hemangiomas (IHs) are benign soft-tissue tumors that represent less than 1% of all hemangiomas. This clinical entity is rarely considered as a differential diagnosis in cases of musculoskeletal pain. A healthy 38-year-old woman presented to
Pedro M. Guedes, Nuno A. Saldanha, Pedro M. Matos, Francisco S. Carvalho, Graça Veiga, Pedro Norton   +5 more
doaj   +1 more source

Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts

Antioxidants, 2022
Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein responsible
Sara Petrillo, Jessica D’Amico, Francesco Nicita, Caterina Torda, Gessica Vasco, Enrico S. Bertini, Marco Cappa, Fiorella Piemonte   +7 more
doaj   +1 more source

Ageing with Muscular Disease [PDF]

The Open Nursing Journal, 2016
Background: The demographic development with an ageing population is predicted to be the next global public health challenge. Advances in medicine and the socioeconomic development have reduced mortality and morbidity due to infectious conditions and non-communicable diseases.
Martinsen, Bente, Dreyer, Pia
openaire   +3 more sources

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus

Italian Journal of Pediatrics, 2022
Background The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients ...
Antonella Riva, Elisabetta Amadori, Maria Stella Vari, Alberto Spalice, Vincenzo Belcastro, Maurizio Viri, Donatella Capodiferro, Antonino Romeo, Alberto Verrotti, the Delphi panel experts’ group, Pasquale Striano   +10 more
doaj   +1 more source

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study

Frontiers in Neuroscience, 2021
Friedreich’s ataxia (FRDA) is the most frequent autosomal recessive ataxia in western countries, with a mean age of onset at 10–15 years. Patients manifest progressive cerebellar and sensory ataxia, dysarthria, lower limb pyramidal weakness, and other ...
Sara Petrillo, Massimo Santoro, Piergiorgio La Rosa, Alessia Perna, Maria Giovanna Gallo, Enrico Silvio Bertini, Gabriella Silvestri, Gabriella Silvestri, Fiorella Piemonte   +8 more
doaj   +1 more source

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

Biomolecules, 2020
DNA repeat expansion disorders are a group of neuromuscular and neurodegenerative diseases that arise from the inheritance of long tracts of nucleotide repetitions, located in the regulatory region, introns, or inside the coding sequence of a gene ...
Piergiorgio La Rosa, Sara Petrillo, Enrico Silvio Bertini, Fiorella Piemonte   +3 more
doaj   +1 more source

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment

Frontiers in Neurology, 2021
Background: Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in comorbidity and an increased risk of premature death.
Antonella Riva, Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Vincenzo Salpietro, Carlo Minetti, Carlo Minetti, Pasquale Striano, Pasquale Striano   +15 more
doaj   +1 more source