Publications by authors named "A-L Moroni"
Rare diseases (RDs) bear a significant challenge to individuals, healthcare systems, and societies. The European reference network on Rare BONe diseases (ERN BOND) is committed to improving multidisciplinary, patient-centred care for individuals with rare bone and mineral diseases (RBMDs). Its affiliated project, the European registries for rare bone and mineral conditions (EuRR-Bone) collects data using two different platforms, an electronic surveillance system (e-REC) that captures the occurrence of RBMDs and the Core Registry, a platform with the infrastructure for collecting Core data fields and longitudinal generic and condition-specific information.
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- The study focused on primary mitral regurgitation (PMR) and how cardiac remodeling affects patient selection for transcatheter edge-to-edge repair (TEER).
- Researchers analyzed data from 654 patients with PMR, looking at extra-mitral valve (MV) cardiac involvement and tracking outcomes over two years.
- Results showed that patients with left or right heart involvement had significantly worse survival rates compared to those with no cardiac involvement, highlighting the importance of assessing cardiac involvement for better risk stratification.
Alexander disease is a leukodystrophy caused by heterozygous mutations of gene. Recurrence in siblings from healthy parents provides a confirmation to the transmission of variants through germinal mosaicism. With the use of DNA isolated from peripheral blood, next-generation sequencing (NGS) of locus was performed with deep coverage (≥500×) in 11 probands and their parents (trios) with probands heterozygous for apparently mutations.
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- Alexander disease (AxD) is a leukodystrophy affecting astrocytes caused by dominant variants in the Glial Fibrillary Acidic Protein gene, with different classifications based on onset age and clinical features.
- The study included 21 Italian pediatric patients with genetically confirmed AxD, analyzing their clinical and MRI data to identify disease progression.
- Results showed a range of disease trajectories, leading to a proposed classification of Type I AxD into four subgroups based on the age of onset and neurological symptoms, confirming earlier findings while suggesting the need for further research.
Objective: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases.
Methods: This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS.
Objective: To evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A).
Methods: Patients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category responses were developed with Rasch analysis of the standard scores.
A measurement of the Higgs boson mass is presented based on the combined data samples of the ATLAS and CMS experiments at the CERN LHC in the H→γγ and H→ZZ→4ℓ decay channels. The results are obtained from a simultaneous fit to the reconstructed invariant mass peaks in the two channels and for the two experiments. The measured masses from the individual channels and the two experiments are found to be consistent among themselves.
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