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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
The Ehlers-Danlos Syndrome National Diagnostic Service in Sheffield, UK, has published a new paper on vascular Ehlers-Danlos syndrome (vEDS) diagnosis and management, in the European Journal of Human Genetics:
Authors: Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, and Glenda J. Sobey.
For more information please see here.
Relevant research
https://doi.org/10.3389/fneur.2024.1479545
– Australian – 2024 National Pain Report. The social and economic cost of chronic pain
https://chronicpainaustralia.org.au/wp-content/uploads/NPW_2024/CPA_2024_NATIONAL_PAIN_REPORT.pdf
– Drivers and barriers to the development of musculoskeletal advanced physiotherapy practitioner roles in New Zealand. (2023). New Zealand Journal of Physiotherapy, 51(2), 125–137. https://doi.org/10.15619/nzjp.v51i2.356
– National Academies of Sciences, Engineering, and Medicine. 2022. Selected Heritable Disorders of Connective Tissue and Disability. Washington, DC: The National Academies Press. https://doi.org/10.17226/26431
– Volberding, P., Spicer, C. M., Cartaxo, T., & Wedge, R. (Eds.). (2022). Selected heritable disorders of connective tissue and disability. Washington, DC, USA: National Academies Press. https://www.ncbi.nlm.nih.gov/books/NBK584971/pdf/Bookshelf_NBK584971.pdf
Tofts, L.J., Simmonds, J., Schwartz, S.B. et al. Pediatric joint hypermobility: a diagnostic framework and narrative review. Orphanet J Rare Dis 18, 104 (2023). https://doi.org/10.1186/s13023-023-02717-2
Bowen, J.M., Hernandez, M., Johnson, D.S. et al. Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield. Eur J Hum Genet 31, 749–760 (2023). https://doi.org/10.1038/s41431-023-01343-7
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Other helpful links
https://dermnetnz.org/topics/
https://rareportal.org.au/list-of-heritable-connective-tissue-disorders-hctd/https://ctdna.org.au/resources/registries-trials/
Rare Disorders NZ White Pages 2024
On the eve of Rare Disease Day, a wide range of rare disorders stakeholders gathered together for the launch of the latest Impact of Living with a Rare Disorder in Aotearoa New Zealand and Impact for Whānau Māori of Living with a Rare Disorder white papers at parliament. These papers were based on Rare Disorders NZ’s 2023 Voice of Rare Disorders Survey – the largest-ever survey of consumer-reported outcomes for rare disorders in this country. For a write-up on the launch of the White Papers at Parliament on the 28th of February 2024, please see Rare Disorders NZ’s write-up.