Publications by authors named "Lin-Qing Zhong"
Article Synopsis
- Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disorder mostly found in the Chinese population, and this study aimed to analyze its genetic and clinical characteristics in these patients.
- Researchers performed genetic tests on 105 individuals, identifying 33 variants associated with PPRD, with many being unique to Chinese patients and specific phenotypic features that correlate with the variants.
- Results showed that certain genetic variants, particularly the hotspot variant c.624dupA, were linked to more severe disease manifestations, including later onset and increased joint involvement, especially affecting elbow and shoulder joints.
Blau syndrome (BS) is a monogenic autoinflammatory disease caused by mutations in nucleotide-binding oligomerization domain containing 2 (NOD2). BS is characterized by the clinical triad of granulomatous dermatitis, arthritis and recurrent uveitis. Due to the low incidence of BS and the lack of treatment studies with large samples, a specific treatment scheme has not been established.
View Article and Find Full Text PDFBackground: The nucleotide-binding oligomerization domain-like receptor protein 12 (NLRP12)-autoinflammatory disorder (NLRP12-AD) is a rare autoinflammatory disease characterized by recurrent fever, rash as well as musculoskeletal symptoms, which is rarely reported in Asian populations.
Methods: Three cases of NLRP12-AD presented to our hospital were studied after parental consents were obtained. Clinical presentations were recorded on a standardized case report form.
Article Synopsis
- Systemic-onset juvenile idiopathic arthritis (SoJIA) is a severe form of arthritis in children, and researchers are investigating how gut microbiome imbalances might relate to this condition.
- * The study analyzed fecal microbiota from SoJIA patients and healthy kids to find correlations with clinical symptoms.
- * Results showed significant differences in microbiota, with lower Firmicutes/Bacteroidetes ratios and reduced levels of certain bacteria in SoJIA patients compared to healthy controls.