The spectrum of muscle pathologies: Three decades of experience from a reference laboratory in Saudi Arabia.

Autor: Alassiri AH; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Alyami AA; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alshabibi MI; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alhusain AM; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Nasradeen MH; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Barri AT; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Shirah BH; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Algahtani HA; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia; King Abdulaziz Medical City, Jeddah, Saudi Arabia. Electronic address: gahtaniha@ngha.med.sa.
Jazyk: angličtina
Zdroj: Annals of diagnostic pathology [Ann Diagn Pathol] 2020 Aug; Vol. 47, pp. 151532. Date of Electronic Publication: 2020 Apr 28.
DOI: 10.1016/j.anndiagpath.2020.151532
Abstrakt: Background: When investigating patients with a suspected neuromuscular disorder, a muscle biopsy is considered an instrumental tool to reach a definitive diagnosis. There is a paucity of publications that assess the diagnostic utilization and yield of muscle biopsies. We intend to present our experience in this regard over an extended period of more than three decades.
Methods: This is an observational retrospective cohort study in which we collected pathology reports for muscle biopsies diagnosed at our reference lab between 1986 and 2017.
Results: We identified a total of 461 cases of muscle biopsy performed, which fulfilled the inclusion criteria. Pediatric cases defined as ≤14 years of age constituted a significant proportion of cases (n = 275, 60%). Normal biopsies were reported in 27% of cases (n = 124), and in 4%, the biopsies were non-diagnostic. The most common pathologies reported were non-specific myopathy (n = 72, 16%), dystrophy (n = 71, 15%), and neurogenic disorders (n = 60, 13%).
Conclusion: In conclusion, the muscle biopsy will continue to play a crucial role, as a gold standard or as a complementary investigation, in the diagnosis of certain neuromuscular disorders. Increasing the yield and accuracy of muscle pathology should be the main concern and priority to neuropathologists reporting muscle biopsies. In addition, utilizing next-generation sequencing and other molecular techniques have changed the location of muscle biopsy in the algorithm of the diagnosis of neuromuscular disorders. This paper is an urgent call to establish the Saudi Neuropathology Society and the muscle pathology and neuromuscular disorders registry.
Competing Interests: Declaration of competing interest The authors declare that they have no conflicts of interest.
(Copyright © 2020 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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