Publications by authors named "L Pinelli"
Objective: To summarize current knowledge on the indications, surgical strategies, and auditory outcomes of revision stapes surgery (RSS) for otosclerosis.
Data Sources: The search was conducted in PubMed, Scopus, and Web of Science online databases, including papers published since 2000.
Review Methods: The study was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines.
Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in NOTCH3 are extremely rare and not well characterised.
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- * A study was conducted to investigate the production of melatonin (ME) in very preterm infants, the metabolism of ME after oral treatment, and the impact on MDA concentrations over 15 days.
- * Results showed that while preterm infants couldn't produce measurable levels of ME initially, those who received ME treatment had significant increases in ME and its metabolite 6-OH-ME, but MDA levels remained relatively stable with a slight trend towards improvement in the ME group.
Key Clinical Message: Baricitinib, a Janus kinase inhibitor (JAK-inhibitor), seems to contribute to an improvement of a child affected by Aicardi-Goutières syndrome (AGS), reducing the interferon score and determining a recovery of cognitive, communicative, and relational dysfunctions, while the gross motor deficit persisted.
Abstract: We report the treatment response to baricitinib, a JAK-inhibitor, in a 4-year-old girl affected by Aicardi-Goutières syndrome (AGS2, mutation). Using quantitative measures, we detected a significant amelioration characterized by a complete recovery of cognitive, communicative, and relational skills after 8 and 16 months from the beginning of therapy.