The quality of online information on Legg-Calvé-Perthes disease: can we do better?

Introduction: As patients increasingly utilize the Internet to obtain health-related information, the accuracy and usability of information prove critical, especially for patients and parents seeking care for relatively common orthopedic childhood disorders such as Legg-Calvé-Perthes (LCP) disease. Therefore, the purpose of this study is to evaluate available online health information regarding LCP disease. The study specifically seeks to (1) examine the accessibility, usability, reliability, and readability of online information, (2) compare the quality of sites from different sources, and (3) determine whether Health on the Net Foundation Code (HON-code) certification guarantees higher quality of information.

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Alagille syndrome is an autosomal dominant disease with a known molecular etiology of dysfunctional Notch signaling caused primarily by pathogenic variants in JAGGED1 (JAG1), but also by variants in NOTCH2. The majority of JAG1 variants result in loss of function, however disease has also been attributed to lesser understood missense variants. Conversely, the majority of NOTCH2 variants are missense, though fewer of these variants have been described.