Publications by authors named "Maria T 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.
Drooling is a common symptom in parkinsonian disorders. Our aim was to assess the safety and effect of botulinum toxin when applied to parotid glands without ultrasound guidance for sialorrhea in parkinsonian disorders in a retrospective study with a long-term follow-up. We evaluated 53 patients (64.
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