Publications by authors named "Valerie Chune"
Background: Gout is the most common cause of inflammatory arthritis worldwide, particularly in Pacific regions. We aimed to establish the prevalence of gout and hyperuricaemia in French Polynesia, their associations with dietary habits, their comorbidities, the prevalence of the HLA-B*58:01 allele, and current management of the disease.
Methods: The Ma'i u'u survey was epidemiological, prospective, cross-sectional, and gout-focused and included a random sample of adults from the general adult population of French Polynesia.
Article Synopsis
- * A study investigated 13 missense variants of PTCHD1, including both previously known and novel mutations found in male patients with intellectual disability (ID) and autism spectrum disorder (ASD).
- * Functional tests revealed that six of these variants disrupt PTCHD1 protein levels and cause retention in the endoplasmic reticulum, indicating they may be pathogenic and supporting PTCHD1's role in ID and ASD.
Article Synopsis
- - RASopathies are genetic disorders linked to variations in genes involved in the RAS/MAPK signaling pathway, with Noonan syndrome being the most prevalent, and characterized by heart defects, short stature, and distinct facial features.
- - Recent research identified variants in the SOS2 gene, associated with Noonan syndrome, and studied 17 individuals with these variants, revealing that their symptoms align with typical Noonan syndrome but include unique features such as ectodermal anomalies.
- - A notable finding was that more than half of the patients had lymphatic anomalies, indicating that SOS2-related Noonan syndrome carries a heightened risk for lymphatic complications, impacting patients' quality of life.