Publications by authors named "C Gemelli"
Background: The application of a temporary deferral when attempting to donate has a negative impact on retention. Little has been done to reduce the likelihood of a donor attending to donate, only to be found to be ineligible. The aim of this study was to determine the effectiveness of pre-screening donors when making an appointment, to prevent in-center deferrals.
View Article and Find Full Text PDFRecessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
View Article and Find Full Text PDFArticle Synopsis
- Biallelic mutations in the MME gene are linked to late-onset CMT2T, with recent findings suggesting heterozygous mutations may also contribute to varying degrees of axonal neuropathy severity.
- The study involved 32 Italian patients, using neurological and genetic tests to assess the impact of MME variants, revealing that both biallelic and heterozygous patients experience similar symptoms but with biallelic patients showing earlier and more severe disease progression.
- CM2T is characterized as a late-onset neuropathy primarily affecting older adults, with it being particularly relevant for those with biallelic mutations as they tend to show quick disease progression.
Psychological resilience is protective against cognitive deterioration in motor neuron diseases.
Amyotroph Lateral Scler Frontotemporal Degener
November 2024
Objectives: Recent studies suggest that psychological resilience (PR) is associated with more well-preserved cognition in healthy subjects (HS), but an investigation of such phenomenon in patients with motor neuron diseases (MNDs) is still lacking. The aim of our study was therefore to evaluate PR and its relationship with baseline cognitive/behavioral and mood symptoms, as well as longitudinal cognitive functioning, in MNDs.
Methods: 94 MND patients and 87 demographically matched HS were enrolled.
Article Synopsis
- The study focuses on diagnosing myofibrillar myopathies (MFM) and distal myopathies (DM), addressing the complexity due to numerous causative genes and overlapping symptoms.
- It involves a retrospective analysis of data from 132 MFM and 298 DM patients collected from various neuromuscular centers, highlighting demographic, genetic, and clinical details.
- Results indicate that 63% of patients had molecular confirmation of their condition, with significant findings including common pathogenic variants and varying ages of onset, as well as notable cardiac and respiratory complications linked to specific genetic variants.