Publications by authors named "Maria Teresa Gomez-Caravaca"
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD).
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- * Data was collected from 17 centers, revealing 29 mutations in 144 patients, with the most common being p.Gly38Arg, and showing significant regional variations and the presence of novel mutations.
- * Older age at onset and female sex were linked to faster progression and shorter survival, indicating the need for targeted treatment approaches for SOD1 mutations in ALS.
Objective: 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.