Publications by authors named "Bianca Antonica"
Multiple sclerosis (MS) is a chronic inflammatory neurodegenerative disease leading to progressive demyelination and neuronal loss, with extensive neurological symptoms. As one of the most widespread neurodegenerative disorders, with an age onset of about 30 years, it turns out to be a socio-health and economic issue, thus necessitating therapeutic interventions currently unavailable. Loss of integrity in the blood-brain barrier (BBB) is one of the distinct MS hallmarks.
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- The study investigates inherited genetic defects in blood coagulation, focusing on the coagulation factor V gene and how mutations affect clinical phenotypes, which can lead to either bleeding or thrombosis disorders.
- A family case study revealed a premature stop-codon mutation in the coagulation factor V gene that resulted in very low FV levels in the affected male, who experienced severe bleeding, while his father had a history of severe thrombosis.
- Advanced coagulation tests indicated that the family members exhibited varying responses to activated protein C, providing insights into their contrasting clinical outcomes despite shared genetic backgrounds.