Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Autor: Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)

Abstract Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to pr

Externí odkaz: https://doaj.org/article/c36e32bded324fa0b3dd34a489fdd355

[The impact of the use of treatments not included in the reimbursement classes in the care of rare patients: a real world study.]

Autor: Monica, Mazzucato, Cinzia, Minichiello, Laura, Visonà Dalla Pozza, Andrea, Vianello, Ema, Toto, Miriam, De Lorenzi, Giovanna, Scroccaro, Paola, Facchin

Publikováno v: Recenti progressi in medicina. 113(7)

Rare disease (RD) patients present complex therapeutic needs. When there are therapeutic options available, orphan drugs (OD) represent only a limited proportion of prescribed treatments. This study aims at investigating the real-world use of treatme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4072a5501b5386fab2a3a388d03a399d
https://pubmed.ncbi.nlm.nih.gov/35852080

The epidemiology of transition into adulthood of rare diseases patients: results from a population-based registry

Autor: Laura Visonà Dalla Pozza, Cinzia Minichiello, Andrea Vianello, Paola Facchin, Monica Mazzucato, Ema Toto, Sara Barbieri, Silvia Manea

Publikováno v: International Journal of Environmental Research and Public Health, Vol 15, Iss 10, p 2212 (2018)
International Journal of Environmental Research and Public Health
Volume 15
Issue 10

Background: Despite the fact that a considerable number of patients diagnosed with childhood-onset rare diseases (RD) survive into adulthood, limited information is available on the epidemiology of this phenomenon, which has a considerable impact bot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::107745e55ee33a5e21dfe87defa3f464
http://hdl.handle.net/11577/3282659

Management of dietary therapy for rare diseases in Veneto Region: appropriateness and sustainability

Autor: Cinzia Minichiello, Sara Barbieri, A Vianello, E. Boscaro, Monica Mazzucato, Paola Facchin

Publikováno v: European Journal of Public Health. 25

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265237fa3454809561eff0f3a47d6cbb
https://doi.org/10.1093/eurpub/ckv176.176

Growth Hormone Veneto Region Registry for surveillance and therapy monitoring since 2013

Autor: Cinzia Minichiello, E. Toto, Paola Facchin, Monica Mazzucato, F. Naccari

Growth Hormone (GH) is a peptide hormone that stimulates growth, cell reproduction and regeneration. It is available as high cost drug used to treat children's growth disorders, adult GH deficiency and some rare diseases. Sometimes it is also used fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbd1a963e1a7f0e1a4fd16564c94362d
http://hdl.handle.net/11577/3193879