Publications by authors named "Domenico Scognamiglio"

Article Synopsis
  • Cystic fibrosis is a common genetic disease caused by mutations in the CFTR gene, diagnosed through slow, multi-phase processes.
  • This paper proposes a rapid sequencing method that can identify both small mutations and copy number variants (CNVs) efficiently from DNA samples.
  • The method has shown 100% accuracy compared to traditional sequencing, successfully identifying variants in patients who typically wouldn't undergo testing, making it a strong candidate for routine newborn screening.
View Article and Find Full Text PDF

Background. Interruptions occurring during the drug preparation and administration have a documented effect on patients' safety. However, literature has paid little attention to show how the introduction of a set of standardized organizational interventions, based on the combination of the current evidence, could reduce the number of interruptions occurring during drug therapy management.

View Article and Find Full Text PDF

Uterine arteriovenous fistulas are rare and acquired causes of life-threatening vaginal bleeding. They usually present with intermittent menometrorrhagia in young patients in childbearing age with history of gynecological procedures on uterus. Traditional management is hysterectomy; endovascular embolization represents nowadays an alternative strategy for patients wishing to preserve fertility.

View Article and Find Full Text PDF

Background/aim: Autism spectrum disorders (ASD) are neurodevelopmental disorders without a definitive etiology in most cases. Environmental factors, such as viral infections, have been linked with anomalies in brain growth, neuronal development, and functional connectivity. Congenital cytomegalovirus (CMV) infection has been associated with the onset of ASD in several case reports.

View Article and Find Full Text PDF

Hyperphenylalaninemia is a group of autosomal recessive disorders caused by a wide range of phenylalanine hydroxylase (PAH) gene variants. To study the effects of mutations on PAH activity, we have reproduced five mutations (p.N223Y, p.

View Article and Find Full Text PDF