Publications by authors named "Apphia Bunting"
The COVID-19 pandemic resulted in changes in all areas of clinical practice, including clinical research and within the intellectual disability population. While there have been some benefits from this rapid adoption of change, those involved in research have had to overcome a number of additional challenges. These adaptive changes, which have included the use of technology, closure of social spaces, working with specific groups who are more vulnerable to COVID-19, and mask use impairing communication, have had both positive and negative impacts on research.
View Article and Find Full Text PDFA patient developed fever, raised inflammatory markers and a maculopapular rash following commencement of clozapine for treatment of his schizoaffective disorder. Skin biopsy confirmed Sweet's syndrome. Identification of the cause was challenging, with a number of possible considerations including infection, malignancy and various potential drug triggers.
View Article and Find Full Text PDFArticle Synopsis
- A study identified 125 individuals from 60 families with pathogenic MT-ATP6 variants, including 88 who showed clinical symptoms and 37 asymptomatic carriers.
- Among the symptomatic individuals, 31 had Leigh syndrome, 7 had neuropathy ataxia retinitis pigmentosa, and 50 showed diverse nonsyndromic symptoms like ataxia and learning disabilities.
- The research emphasizes that MT-ATP6-related mitochondrial DNA diseases should be viewed as a spectrum and suggests they should be included in genetic testing for ataxia and neuropathy.