Publications by authors named "Beatriz Velez Gomez"
LAENALS: epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America.
Amyotroph Lateral Scler Frontotemporal Degener
February 2024
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.
IMPACT-ALS: summary of results from a European survey of people living with ALS.
Amyotroph Lateral Scler Frontotemporal Degener
September 2023
Article Synopsis
- The IMPACT-ALS survey aimed to gather the experiences of people living with ALS across nine European countries to inform the development of person-centered therapies.
- A total of 857 participants completed the survey, revealing common symptoms like weakness and fatigue, along with significant fears related to their condition.
- The survey highlighted that nearly all respondents reported lifestyle changes post-diagnosis, notably spending more time online and wanting therapies focused on halting ALS progression.
Background And Objective: TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development.
View Article and Find Full Text PDFObjective: To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment.
Methods: This observational retrospective cross-sectional multicenter study was based on data from the Spanish MG Registry (NMD-ES). Patients were considered refractory when their MG Foundation of America post-interventional status (MGFA-PIS) was unchanged or worse after corticosteroids and two or more other immunosuppressive agents.
Article Synopsis
- Thymoma-associated myasthenia gravis (MG) patients are generally younger and exhibit more severe symptoms compared to those without thymoma, leading to a worse overall prognosis.
- In a study of 964 patients, those with thymoma had higher rates of treatment refractoriness and mortality, particularly among those with nonresectable thymomas.
- Although myasthenic symptoms worsened temporarily in some patients with recurrent thymoma, their long-term prognosis was similar to those with non-recurrent conditions.