Publications by authors named "M Accadia"
Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).
Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.
Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm).
View Article and Find Full Text PDFBackground: Behavioral variant frontotemporal dementia (bvFTD) typically involves subtle changes in personality that can delay a timely diagnosis.
Objective: Here, we report the case of a patient diagnosed of GRN-positive bvFTD at the age of 52 presenting with a 7-year history of narcissistic personality disorder, accordingly to DSM-5 criteria.
Methods: The patient was referred to neurological and neuropsychological examination.
Article Synopsis
- The Italian Society of Echography and Cardiovascular Imaging (SIECVI) conducted a national survey to investigate stress echocardiography (SE) practices across Italy, collecting data from 228 laboratories in November 2022.
- The survey revealed that out of 179 centers performing SE, most were located in northern Italy, and the study categorized them into low, moderate, and high volume of activity based on the number of SE examinations.
- Key findings indicated differences in the use of stressors, with a tendency for high-volume centers to employ multiple stress techniques and incorporate advanced evaluations like coronary flow velocity reserve (CFVR) more frequently than low and moderate volume centers.
Background: The Italian Society of Echocardiography and Cardiovascular Imaging (SIECVI) conducted a national survey to understand better how different echocardiographic modalities are used and accessed in Italy.
Methods: We analyzed echocardiography laboratory activities over a month (November 2022). Data were retrieved via an electronic survey based on a structured questionnaire, uploaded on the SIECVI website.