Publications by authors named "C Ketzoian"

Background: The worldwide incidence of multiple sclerosis (MS) is estimated at 0.5-10 cases per 100,000 person-years and is probably increasing. In 2014, a previous study estimated the incidence of multiple sclerosis in Uruguay at 1.

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Background: Most neurological diseases have no curative treatment; therefore, focusing on prevention is key. Continuous research to uncover the protective and risk factors associated with different neurological diseases is crucial to successfully inform prevention strategies. eHealth has been showing promising advantages in healthcare and public health and may therefore be relevant to facilitate epidemiological studies.

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Article Synopsis
  • The Latin American Epidemiologic study of ALS (LAENALS) focuses on understanding ALS by analyzing demographic data from Cuba, Chile, and Uruguay, particularly the genetic and environmental factors influencing the disease.
  • Data was collected using a standardized protocol in each country between 2017 and 2019, with statistical analysis revealing varied incidence and prevalence rates across the three locations.
  • Findings indicate that ALS incidence and prevalence are lower in populations with greater genetic diversity, and the LAENALS database is now available for further research in other Latin American countries.
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There is evolving evidence of non-uniform distribution of ALS worldwide, with apparently lower incident and prevalent rates outside populations of European origin. However, the phenotype, survival and environmental risk in populations of mixed ancestral origin have not been well established. Large scale population based studies of incidence, prevalence, phenotype and risk factors in admixed populations are necessary to determine the true demography of ALS, and to test the hypothesis of differential risk and phenotype in populations of mixed ancestry.

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Objectives: This study compares the clinical characteristics of patients with amyotrophic lateral sclerosis (ALS) within three clinic-based populations from Cuba, Uruguay and Ireland and determines the impact of known ALS-associated genetic variants on phenotypic manifestations within the Cuban population.

Methods: Demographic and clinical information was collected on 115 Cuban, 220 Uruguayan and 1038 Irish patients with ALS attending national specialist clinics through 1996-2017. All Cuban patients and 676 Irish patients underwent next-generation DNA sequencing and were screened for the pathogenic repeat expansion.

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