Publications by authors named "C McCuaig"
Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.
View Article and Find Full Text PDFBackground: Literature is scarce regarding contraceptive and reproductive health in women with complex vascular anomalies (VA).
Objectives: To assess obstetrical, gynecological and reproductive health in this population.
Methods: Female adult patients of childbearing age from the VA clinic of a single tertiary care centre in Canada have been recruited by retrospective chart review, and administered phone interviews.
Article Synopsis
- The study focuses on the long-term effects of anogenital lichen sclerosus (ALS) in girls diagnosed before puberty, assessing how it evolves after they reach puberty.* -
- Out of 65 cases reviewed, 92% showed ongoing signs of ALS after puberty, although nearly half of the patients were asymptomatic despite the disease's persistence.* -
- The research highlights the need for ongoing monitoring of these patients to manage the condition and reduce potential health issues down the line.*
Article Synopsis
- Epidermolysis bullosa (EB) is a group of genetic skin disorders that lead to blistering and erosions on the skin due to minor trauma, with the simplex form (EBS) particularly linked to mutations in keratin genes K5 and K14.
- EBS results in painful skin lesions that significantly affect the quality of life, and research has identified key genes involved in inflammation and skin integrity through studies on mouse models and human cells.
- This review discusses the three subtypes of EBS, their genetic causes, gene expression patterns, molecular mechanisms, and recent advancements in treatment options.