Trigger points of palliative care assessment in inherited metabolic diseases
Gustavo Marquezani Spolador, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene do Nascimento, Camila Pugliese, Fernando Kok, Clarissa Bueno, Silvia Maria de Macedo Barbosa · 2025
Read Trigger points of palliative care assessment in inherited metabolic diseases by Gustavo Marquezani Spolador, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene do Nascimento, Camila Pugliese, Fernando Kok, Clarissa Bueno, Silvia Maria de Macedo Barbosa (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12752436.txt.
Description
Gustavo Marquezani Spolador and colleagues propose trigger points for sending patients with inherited metabolic diseases to palliative care. The link between that care and these diseases matters in the clinic, yet the two are still joined only in a limited way. Blocks include poor grasp of the link, slow will to refer, limited resources, and no rules on who is eligible.
The team drew on past work and on the pathophysiology of the diseases. They set out three pairs of illness paths. One pair covers intoxication disorders, such as organic acidurias and urea cycle disorders. A second covers energy disorders, from fatty acid oxidation defects to select mitochondrial diseases. The third covers disorders of complex molecules, with storage disorders and trafficking defects. They set referral triggers against those paths, starting at diagnosis, and covering times of doubt about the outlook. The frame gives teams firm times to start palliative care.
Catalog record
| CREATOR | Gustavo Marquezani Spolador, Rita Tiziana Verardo Polastrini, Ivete Zoboli, Ana Cristina Henrique, Elaine Freitas, Andréa Gislene do Nascimento, Camila Pugliese, Fernando Kok, Clarissa Bueno, Silvia Maria de Macedo Barbosa |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 22 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |