Publications by authors named "Ting-Yan He"
World J Pediatr
July 2022
Article Synopsis
- - Aicardi-Goutieres syndrome (AGS) is a challenging inflammatory disorder often leading to high mortality rates, with limited research data specifically from China, highlighting the need for better understanding its clinical presentation and diagnostic criteria.
- - In a study of 23 Chinese AGS patients, the majority (82.6%) experienced symptoms before age 3, with common neurological issues and skin manifestations; notable findings included intellectual and language disabilities, and various dysfunctions such as liver and thyroid issues.
- - Elevated expression of interferon-stimulated genes was observed, suggesting a systemic nature of AGS, with diagnosis recommended for early-onset patients showing specific symptoms, as exemplified by one recorded death in the study.
