Publications by authors named "Bianca Raquel Ruoh Harn Scovoli Hsu"

Introduction: Dyke-Davidoff-Masson syndrome (DDMS), or cerebral hemiatrophy, was first described in 1933. It is characterised by cerebral injury that causes hypoplasia in one of the cerebral hemispheres. The disease has different clinical degrees and two aetiologies: congenital and acquired.

View Article and Find Full Text PDF

Subacute symmetrical proximal muscle weakness and persistent elevated creatine kinase levels are typical of immune-mediated necrotising myopathy (IMNM). These conditions are accompanied by copious myofibre necrosis, degeneration and regeneration with minimal to no inflammation on muscle biopsy. We report two cases (case 1 and case 2) of asymptomatic IMNM from different families with hyperCKaemia associated with positive anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies, respectively, and we also reviewed the literature.

View Article and Find Full Text PDF

Synopsis of recent research by authors named "Bianca Raquel Ruoh Harn Scovoli Hsu"

  • - Bianca Raquel Ruoh Harn Scovoli Hsu's research primarily focuses on neurological and muscular disorders, highlighted by her systematic review of Dyke-Davidoff-Masson Syndrome, emphasizing its clinical presentation and radiological findings.
  • - The findings regarding Dyke-Davidoff-Masson Syndrome underline the variability in clinical manifestations and the importance of differentiating between congenital and acquired causes of cerebral hemiatrophy.
  • - Additionally, her study on immune-mediated necrotising myopathy showcases cases of asymptomatic patients with elevated creatine kinase levels, contributing to the understanding of the disease's presentation and the role of specific autoantibodies in its symptoms.