Occasionally, auto-immune diseases may emerge as paraneoplastic syndromes. This is especially recognized in the case of polymyositis/dermatomyostis, but it is an extremely rare event in systemic sclerosis (SSc). The authors report the case of a sixty-year-old woman who presented with Raynaud's phenomenon and rapidly progressing skin thickness of the forearms, hands and lower limbs. Patient evaluation revealed a...
OBJECTIVE: Pigmented Villonodular Synovitis (PVNS) is a benign and uncommon clinical entity, characterized by excessive proliferation of synovial membrane of joints, tendon sheaths and bursas. The objective of this study was to evaluate demographic and clinical parameters, diagnostic and treatment procedures and the outcome of 28 patients with PVNS. MATERIAL AND METHODS: Retrospective study of the histologicall...
The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syn...
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