English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Background Tuberous Sclerosis (TS) is a rare genetic disease that causes hamartomas and neuropsychiatric disorders. Objective to determine the prevalence and its evolution in the Valencian Region in the period 2010-2017. Methods Through the information sources used by the Rare Disease Population-based Registry of the Valencian Region, possible cases of TS were identified with codes 759.5 (International Classification of Diseases -ICD- 9th Revision Clinical Modification version) and Q85.1 (ICD10th Revision, ICD10th Spanish version and ICD10th British Paediatric Association version). Prevalence and mortality rates per year were obtained (by the direct method, using the European Standard Population 2013) and a descriptive analysis of the sociodemographic variables of the confirmed cases was performed. Results 158 possible cases of TS were obtained, which 139 were confirmed (54.7% women and 45.3% men). The lowest prevalence was in the year 2010 with 16.0/1,000,000 (95%CI: 12.7-20.0) and the highest in 2017 with 26.5/1,000,000 (95%CI: 22.0-31.7), identifying an increasing trend along the period. Prevalence in women was higher than in men throughout the period, being in the year 2017 in women (30.3/1,000,000 (95%CI: 23.5-38.4)) and in men (22.7/1,000,000 (95%CI: 17.0-30.0)).The province with the highest prevalence was Castellón (in the north), 34.8/1,000,000 (95%CI: 20.9-55.0) in the year 2017. The median age at diagnosis was 7.2 years. The mortality rate over the period was 0.4/1,000,000 (95%CI: 0.2-0.7), being higher in men (0.5/1,000,000 (95%CI: 0.2-1.0)) than in women (0.3/1,000,000 (95%CI: 0.1-0.7)). Conclusions The prevalence obtained is lower than that estimated by Orphanet, the rare diseases reference portal, (100-500/1,000,000), being in this study the first time it is identified in the Valencian Region. The increasing trend in prevalence may be due to the low mortality of TS and it is being chronic, as well as a good healthcare management of the disease. Key messages The Tuberous Sclerosis is one of the 20 rare diseases systematically monitored by the Rare Disease IPopulation-based Registry of the Valencian Region and in the Spanish Rare Disease Registry. The obtained prevalence and mortality could be used to increase the knowledge of the Tuberous Sclerosis and as a basis for health programs and research.

Tuberous Sclerosis: a disease systematically monitored by the Rare Diseases Registries in Spain