Publications by authors named "P ] Mandich R [corrected to Mandich"
Recessively 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 PDFSpontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).
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- FSHD is a myopathy linked to changes in DNA methylation at the D4Z4 locus, and this study evaluates the effectiveness of a methylation assay as a diagnostic tool.
- The research involved 218 individuals suspected of having FSHD, comparing traditional molecular testing with the new methylation assay to assess accuracy and consistency.
- The refined methylation assay showed high sensitivity (90%), specificity (100%), and accuracy (93%), indicating its potential for early detection, even in asymptomatic individuals with a family history of FSHD.
Article Synopsis
- - The transition from pediatric to adult care for epilepsy is complex and involves multiple stakeholders, essential for providing high-quality care and preventing negative outcomes in young patients.
- - The study aimed to address the challenges and needs in this transition process from the perspective of adult neurologists through a survey assessing their views on the issue.
- - Results indicate that adult neurologists find the transition challenging and recommend a collaborative approach between child and adult neurologists, along with better training in childhood epilepsy.