Publications by authors named "A Diociaiuti"
Fibroblastic/myofibroblastic tumors encompass a wide spectrum of lesions. Among them, plexiform myofibroblastoma (PM) represents a rare and distinctive entity recently described as mostly occurring in children and with a favorable prognosis. Histologically, PM shows SMA, CD34, and desmin expression in most cases, while it is negative for β-catenin and S100.
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- Inherited epidermolysis bullosa (EB) is a group of genetic skin disorders that cause blisters from minor injuries, affecting the quality of life (QoL) for patients and caregivers.
- The study aimed to create and test Italian translations of two validated EB-specific questionnaires, QOLEB and EB-BoD, to assess patient and family disease burden.
- The translation process involved creating two initial versions, reconciling them with experts, and successfully pilot-testing them with 17 families, confirming their clarity and usability in clinical practice.
Article Synopsis
- - Autosomal recessive congenital ichthyoses (ARCIs) are a group of skin disorders marked by scaling due to mutations in at least 12 different genes, with this study aiming to explore disease characteristics and their link to genetic factors.
- - The research involved 74 patients, primarily affected by lamellar ichthyosis and congenital ichthyosiform erythroderma, leading to the discovery of 25 new mutations and specific associations between mutations and clinical symptoms, such as alopecia and thick scales linked to particular gene mutations.
- - The findings highlighted that patients with mutations in TGM1 and ABCA12 had more severe symptoms compared to those with other mutations, while unique skin features were observed in NIPAL4-mut
Article Synopsis
- Recessive dystrophic epidermolysis bullosa (RDEB) is a rare skin disorder caused by mutations in the COL7A1 gene, leading to persistent blistering and fibrosis without a cure.
- The study focuses on the NOTCH signaling pathway, which is implicated in the fibrosis associated with RDEB, and examines the effects of γ-secretase inhibitors, specifically DAPT and PF-03084014 (nirogacestat), on RDEB fibroblasts.
- Results show that inhibiting NOTCH signaling with PF-03084014 reduces fibrotic traits such as contractility and collagen secretion in RDEB fibroblasts, offering potential new therapeutic strategies for managing RDEB-associated fibrosis.