Publications by authors named "Maria-Rosario Domingo"
Article Synopsis
- Enzymatic replacement therapy (ERT) has significantly improved early diagnosis and management of Gaucher disease (GD) in pediatric patients since its introduction in Spain in 1993, with 386 patients registered in the Spanish Registry of Gaucher Disease.
- The study reviewed data from 98 pediatric patients, revealing that those diagnosed after 1995 had earlier diagnoses and were generally less severe than those diagnosed before 1994, who demonstrated worse complications at presentation.
- Patients in the later cohort (≥1995) started ERT much sooner after diagnosis compared to earlier diagnosed patients (1.6 years vs. 5.2 years), indicating an overall improvement in treatment timing and outcomes for pediatric GD cases.
The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of mutations (sequencing of four exons and rearrangements) in 120 female patients: 28 with classic Rett syndrome, five with atypical Rett syndrome, and 87 with heterogeneous phenotypes with some Rett-like features.
View Article and Find Full Text PDFBackground: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months.
Methods: We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who had current or past epilepsy, regardless of the age of onset, type, and severity. All the exons in the CDKL5 gene and their neighbouring sequences were examined, and CDKL5 rearrangements were studied by multiplex ligation-dependent probe amplification (MLPA).