J Submicrosc Cytol Pathol
Unit of Neurometabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy.
Published: October 1998
Autosomal dominant chronic progressive external ophthalmoplegia (AdPEO) is a muscle mitochondrial disorder due to multiple large scale rearrangements of the mitochondrial DNA. This disorder is probably due to a nuclear defect which causes genetic instability or an impairment in the replication of mitochondrial DNA. X-linked ichthyosis (XLI) is a skin disorder caused by a deletion in the steroid-sulphatase gene. Here we report the clinical, biochemical, morphologic and molecular genetic findings in a patient affected by both AdPEO, inherited by the father, and steroid-sulphatase-deficiency, inherited by the mother. The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases.
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J Burn Care Res
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Department of Rehabilitation Medicine, Hangang Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea.
Septic arthritis (SA) are rare in patients with burns, but delayed treatment can result in irreversible joint destruction. Early diagnosis and immediate treatment are necessary to prevent joint destruction. Robot training in patients with musculoskeletal diseases and burns, can improve joint range of motion (ROM), muscle strength, and lower extremity function.
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Department of Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
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