Publications by authors named "Lucia Rosaia"
Malformations following methimazole exposure in utero: an open issue.
Birth Defects Res A Clin Mol Teratol
December 2003
Article Synopsis
- In pregnancies complicated by hyperthyroidism, treatment with propylthiouracil (PTU) or methimazole (MMI) is necessary to maintain normal thyroid function.
- Both medications are effective but can pose risks of fetal and neonatal hypothyroidism due to their ability to cross the placenta, with MMI potentially linked to specific birth defects.
- The report suggests using PTU as the preferred option and limiting MMI to cases where PTU cannot be used due to allergies or ineffectiveness.
Study of MECP2 gene in Rett syndrome variants and autistic girls.
Am J Med Genet B Neuropsychiatr Genet
May 2003
Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in which autistic behavior is common. The aim of this study is to determine whether MECP2 mutations are responsible for PSV only or may cause other forms of autistic disorders. We screened for mutations by SSCP 19 girls with a clinical diagnosis of autism, two of them fulfilling the PSV criteria.
View Article and Find Full Text PDF