Publications by authors named "Montse Arellano"
Article Synopsis
- . Aicardi-Goutières syndrome is an inflammatory disease caused by mutations in seven specific genes, affecting 374 patients studied from 299 families.
- . Patients typically present with either in utero disease onset (22.8%) or post-natal symptoms within the first year of life (68.6%), leading to severe disabilities and a high mortality rate (19.3%).
- . A strong link was found between these genetic mutations and increased type I interferon activity, suggesting a need for targeted treatment strategies to address the serious health issues associated with the syndrome.
White matter alterations in chromosomal disorders have been reported mainly in 18q-syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years).
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