GRANDIS , Marina

We report, to the best of our knowledge, the first case of a probable COVID-19 infection in a 28-year-old man with Charcot-Marie-Tooth disease. The diagnosis was established through a remote interaction with the patient after early discharge from outpatient therapy due to upcoming traveling restrictions. The COVID-19 disease appeared mild,...

Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only...

Objective: In July 2017 a multidisciplinary clinical Center specialized in rare diseases was activated. A rare disease can involve the musculoskeletal system. A multimodality musculoskeletal imaging approach allows for a rapid diagnosis. The purpose of this study was to assess when musculoskeletal radiology, ultrasound in particular, plays a...

The main consequence of the COVID-19 pandemic has been to increase the distance between patients and their doctors and to limit the opportunities to compare experiences and clinical cases in the medical community. Based on this, we adopted a strategy to create networks with the ambition to break down these distances and to unify the process of...

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