Delfrade Osinaga, J.

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https://academica-e.unavarra.es/handle/2454/48885

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Delfrade Osinaga

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J.

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Estadística e Investigación Operativa

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1174266

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8260

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Author: Jericó Pascual, Ivonne × Has files: true ×

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    PublicationOpen Access
    Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region
    (BioMed Central, 2019) Pagola Lorz, María Inmaculada; Vicente Cemborain, Esther; Ibáñez Beroiz, Berta; Torné, Laura; Elizalde Beiras, Itsaso; García Solaesa, Virginia; González García, Fermín María; Delfrade Osinaga, J.; Jericó Pascual, Ivonne; Ciencias de la Salud; Osasun Zientziak; Gobierno de Navarra / Nafarroako Gobernua
    Background: Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases in a northern Spanish region and to describe their demographic and genetic features. Retrospective identification of patients with inherited muscle diseases between 2000 and 2015 from multiple data sources. Demographic and molecular data were registered. Results: On January 1, 2016, the overall prevalence of inherited muscle diseases was 59.00/ 100,000 inhabitants (CI 95%; 53.35-65.26). Prevalence was significantly greater in men (67.33/100,000) in comparison to women (50.80/100,000) (p = 0.006). The highest value was seen in the age range between 45 and 54 (91.32/100,000) years. Myotonic dystrophy type 1 was the most common condition (35.90/100,000), followed by facioscapulohumeral muscular dystrophy (5.15/100,000) and limb-girdle muscular dystrophy type 2A (2.5/100,000). Conclusions: Prevalence of inherited muscle diseases in Navarre is high in comparison with the data reported for other geographical regions. Standard procedures and analyses of multiple data sources are needed for epidemiological studies of this heterogeneous group of diseases.
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    PublicationOpen Access
    Clinical features and incidence trends of amyotrophic lateral sclerosis in Navarre, Spain, 2007-2018: a population-based study
    (Taylor & Francis, 2021) Jericó Pascual, Ivonne; Elizalde Beiras, Itsaso; Pagola Lorz, María Inmaculada; Torné, Laura; Galbete Jiménez, Arkaitz; Delfrade Osinaga, J.; Vicente Cemborain, Esther; Osasun Zientziak; Institute of Smart Cities - ISC; Ciencias de la Salud
    Objective: Amyotrophic Lateral Sclerosis (ALS) is a heterogeneous neurodegenerative disorder with a median survival of 3 years. The aim of our study is to analyze the incidence, age-related phenotype and clinical onset, geographical distribution, survival and diagnostic delay of ALS in Navarre. Methods: This is a population-based observational retrospective study, including all residents of Navarre (a northern Spanish region) from 2007 to 2018, who were followed until 30th September 2020. Results: We observed a global incidence 2.47/100,000 person-years, with an upward trend throughout the study, with the highest being in the age group of 70¿74 years old. Point prevalence in December 2018 was 6.64/100,000 inhabitants (95%CI: 4.52¿8.45). Upper limbs weakness onset was the most frequent in young people (<60 years), and bulbar, lower limbs weakness, generalized and respiratory associated with older age. Bulbar phenotype is the most frequent in women and in 80+ group. The median survival from clinical onset was 27.7 months (95%CI: 24.0¿31.4), higher in spinal phenotype and younger onset age, and the diagnosis delay was 10.0 months (95%CI: 8.9¿11.2) from clinical onset. Conclusions: We have observed a trend of increasing incidence in older people where the bulbar phenotype and female predominance. © 2021 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases.