Orphanet Journal of Rare Diseases最新文献

Introduction: Rare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related to rare genetic disease and is accessible to a diverse range of people who seek out such information, including healthcare professionals, researchers, students, patients, and the public.

Purpose: To assess the potential educational outreach of the Internet, this systematic literature review will appraise the landscape of what education for rare genetic disease is available online, describing its form, subject, and intended audience.

Methods: This systematic review encompassed all results across 20 science, healthcare, and education databases published up to September 1, 2023. The search criteria were specific to online education for rare genetic diseases.

Results: From 1663 total results, after applying exclusion criteria, 58 publications remained, ranging from 2002 to 2023. Although the amount of research presenting rare genetic disease education online was limited, the forms of education and its target learners were varied. Studies could have multiple target learners and healthcare professionals (68.97% of papers) and healthcare consumers (62.07% of papers) represented the most common of 5 different learners. 22 different specific conditions or categories of disease were the focus of 56.90% papers, with the remainder being general subjects like 'genetic testing' or 'rare diseases' overall. Modes of delivery were mutually exclusive per paper, with websites (29.31% of papers) and web applications/modules (24.14% of papers) being the most common of 7 different forms. The highest representation for author institutions was the USA (58.62% of papers) out of 33 countries total. The broad spread of learners, subjects, and delivery forms demonstrates the potential for online education as a vehicle for advancing the reach of rare disease education.

Conclusions: The greater accessibility afforded through online information creates an avenue for further availability of high-quality education on rare genetic diseases.

Background: Approximately half of the patients with Turner syndrome (TS) have congenital or acquired cardiovascular diseases. The objectives of this study were to improve the early diagnosis of TS and to predict the risk of severe cardiovascular diseases in patients with TS by analyzing the main features of cardiovascular diseases in these patients.

Methods: This study included 107 patients with TS who underwent echocardiography and were admitted to the Shanghai Children's Medical Center between November 2019 and November 2024. In this study, the height, weight, age, karyotype, cardiac imaging data, and electrocardiograms of the patients were collected. The main features of the cardiovascular diseases in patients with TS were assessed, and the correlations between the height, body mass index (BMI), karyotype, and cardiovascular diseases were analyzed.

Results: Overall, 107 patients with TS were included, with an average age of 9.68 ± 4.23 years at diagnosis. Bicuspid aortic valve (BAV), aortic coarctation (CoA), and persistent left superior vena cava (PLSVC) were the most prevalent cardiovascular diseases, with prevalence rates of 11.2% (12/107), 8.4% (9/107), and 9.3% (10/107), respectively. The partial anomalous pulmonary venous return (PAPVC) was of the 'supra cardiac type' in all cases. Patients with CoA had lower BMI-for-age Z-score (BMIAZ) (-0.81 ± 1.17 vs. 0.61 ± 0.99; P = 0.003) than those without CoA. The best cutoff for predicting CoA was calculated using a sensitivity of 0.857 and specificity of 0.697 with a BMIAZ of 0.115 and an area under the curve of 0.825 (P = 0.004). Moreover, CoA (63.3%, 7/11) was the leading cause for surgical and interventional procedures in children and adolescents with TS. The 45,X karyotype was found to be associated with congenital heart disease (CHD) (47.4% vs. 24.6%; P = 0.016).

Conclusions: Girls with BAV or CoA should undergo karyotyping to facilitate the early diagnosis of TS. CoA is the leading cause for surgical and interventional procedures in children and adolescents with TS. The BMIAZ is a reliable predictor of CoA. Cardiovascular magnetic resonance (CMR) or computed tomography (CT) should be performed at the time of diagnosis for girls with TS, especially those with a 45,X karyotype, BMIAZ < 0.115, or CHD detected by echocardiography.