Publications by authors named "Beatrice Filippini"
Background: Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications. GAU-PED study aims to assess GD prevalence in a high-risk pediatric population and the presence, if any, of novel clinical or biochemical markers associated with GD.
Materials And Methods: DBS samples were collected and tested for β-glucocerebrosidase enzyme activity for 154 patients selected through the algorithm proposed by Di Rocco et al.
Article Synopsis
- Moyamoya disease can cause strokes in children and also lead to problems in areas outside the brain, including the kidneys, where it can result in narrowed arteries and renovascular hypertension.
- A case involving an 18-month-old boy revealed he suffered from severe dehydration and a peculiar syndrome involving low sodium and high blood pressure linked to his kidney issues and moyamoya disease.
- After initial treatments failed, the boy underwent surgical procedures that significantly improved both his neurological condition and kidney function, marking a unique instance of how moyamoya disease can manifest atypically with hypertension and renal complications.
Objectives: HbS/β+ patients' presence in Italy increased due to immigration; these patients are clinically heterogeneous, and specific guidelines are lacking. Our aim is to describe a cohort of HbS/β+ patients, with genotype-phenotype correlation, in order to offer guidance for clinical management of such patients.
Methods: Retrospective cohort study of HbS/β+ patients among 15 AIEOP Centres.
Hemangioma of the nasal tip is commonly described as "Cyrano nose" and his treatment is extremely difficult because of its location and possible severe aesthetic complications like definitive nasal deformation. We describe a patient who presented at two months of age with a "Cyrano nose" associated with multiple hepatic and cutaneous hemangiomas, which completely resolved after therapy with propranolol. Treatment was well tolerated and aesthetic result was excellent.
View Article and Find Full Text PDF