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Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017

INTRODUCTION: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. OBJECTIVE: To determine the characteristics and factors associated with mortality due to rare diseases in Chile from 2002 to 2017. MATERIALS AND METHODS: We conducted an analy...

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Autores principales: Avila, Jahir Andrés, Martínez, Julio César
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Nacional de Salud 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550350/
https://www.ncbi.nlm.nih.gov/pubmed/36122290
http://dx.doi.org/10.7705/biomedica.6281
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author Avila, Jahir Andrés
Martínez, Julio César
author_facet Avila, Jahir Andrés
Martínez, Julio César
author_sort Avila, Jahir Andrés
collection PubMed
description INTRODUCTION: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. OBJECTIVE: To determine the characteristics and factors associated with mortality due to rare diseases in Chile from 2002 to 2017. MATERIALS AND METHODS: We conducted an analytical cross-sectional study based on secondary mortality database from the Departamento de Estadística e Información en Salud (DEIS), Ministerio de Salud de Chile (Department of Statistics and Health Information, Chile Ministry of Health) from 2002 to 2017. The specific mortality rates adjusted by age and sex were calculated. A normality analysis was conducted using the Kolmogorov-Smirnov test. In addition, a chi-square test of independence for associations and multivariate logistic regression was applied to determine the probability of death. RESULTS: Between 2008 and 2012 there were 10,718 deaths due to rare diseases, 53.2% of them occurred among women. The average annual mortality rate was 3.9 per 100,000 inhabitants: 4.1 in women and 3.8 in men. The main causes of mortality among women were Creutzfeldt-Jakob disease, anencephaly and autoinmune hepatitis, and among men, Creutzfeldt-Jakob disease, muscular dystrophy and anencephaly. Women are 1.75 times more likely to die than men (adjusted Odds Ratio ((a)OR) = 1.75; 95% CI: 1.69 - 1.82). The highest probability of dying occurred among children aged 0-4 years ((a)OR = 15.30; 95% CI: 14.10 - 19.20). CONCLUSION: Overall, the burden of mortality due to rare disease was higher among women of all ages in Chile between 2002 and 2017.
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spelling pubmed-95503502022-10-11 Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017 Avila, Jahir Andrés Martínez, Julio César Biomedica Artìculo Original INTRODUCTION: Rare diseases are characterized by their low prevalence, chronically debilitating and life-threatening nature. OBJECTIVE: To determine the characteristics and factors associated with mortality due to rare diseases in Chile from 2002 to 2017. MATERIALS AND METHODS: We conducted an analytical cross-sectional study based on secondary mortality database from the Departamento de Estadística e Información en Salud (DEIS), Ministerio de Salud de Chile (Department of Statistics and Health Information, Chile Ministry of Health) from 2002 to 2017. The specific mortality rates adjusted by age and sex were calculated. A normality analysis was conducted using the Kolmogorov-Smirnov test. In addition, a chi-square test of independence for associations and multivariate logistic regression was applied to determine the probability of death. RESULTS: Between 2008 and 2012 there were 10,718 deaths due to rare diseases, 53.2% of them occurred among women. The average annual mortality rate was 3.9 per 100,000 inhabitants: 4.1 in women and 3.8 in men. The main causes of mortality among women were Creutzfeldt-Jakob disease, anencephaly and autoinmune hepatitis, and among men, Creutzfeldt-Jakob disease, muscular dystrophy and anencephaly. Women are 1.75 times more likely to die than men (adjusted Odds Ratio ((a)OR) = 1.75; 95% CI: 1.69 - 1.82). The highest probability of dying occurred among children aged 0-4 years ((a)OR = 15.30; 95% CI: 14.10 - 19.20). CONCLUSION: Overall, the burden of mortality due to rare disease was higher among women of all ages in Chile between 2002 and 2017. Instituto Nacional de Salud 2022-09-02 /pmc/articles/PMC9550350/ /pubmed/36122290 http://dx.doi.org/10.7705/biomedica.6281 Text en https://creativecommons.org/licenses/by/4.0/Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons
spellingShingle Artìculo Original
Avila, Jahir Andrés
Martínez, Julio César
Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title_full Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title_fullStr Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title_full_unstemmed Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title_short Caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en Chile, 2002-2017
title_sort caracterización y factores asociados a la mortalidad debida a enfermedades huérfanas en chile, 2002-2017
topic Artìculo Original
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550350/
https://www.ncbi.nlm.nih.gov/pubmed/36122290
http://dx.doi.org/10.7705/biomedica.6281
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