Publications by authors named "Sara O Vaz"

Coeliac disease (CD) is an autoimmune disease, characterised by a permanent sensitivity to gluten. It is being progressively recognised as a multisystemic disease, with multiple extraintestinal manifestations. Skin conditions (eg, dermatitis herpetiformis) are an example of its manifestations; however, its underlying mechanisms are still not well understood.

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Article Synopsis
  • The 22q11.2 chromosomal region is linked to multiple congenital anomaly disorders, with deletions leading to DiGeorge/Velocardiofacial syndrome presenting distinct features like heart defects and cognitive delays, while duplications show more variable and milder symptoms.
  • Two case studies are presented: Patient 1, a 24-year-old with a 22q11.2 duplication, exhibited a heart defect and hyperdontia—an unusual feature for this condition, while her twin had a different heart issue.
  • Patient 2, a 20-year-old with a triplication, displayed a more severe phenotype with multiple heart defects and facial malformations, highlighting the need for awareness and further investigation into these less-recognized duplications
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Article Synopsis
  • Researchers studied the genetic factors contributing to congenital heart disease (CHD) in 87 patients from São Miguel Island, focusing on the 22q11.2 chromosomal region linked to deletion and microduplication syndromes.
  • They discovered that 4.6% of the patients had copy number variants (CNVs), with specific alterations resulting in various heart defects and some associated with additional features like cognitive deficits and facial dysmorphism.
  • This study emphasizes the importance of identifying rare genetic abnormalities in CHD patients, contributing to a better understanding of the genetic basis of these conditions in the Azores.
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