Publications by authors named "M C Desjonqueres"
Article Synopsis
- - Atypical hemolytic uremic syndrome (aHUS) is a condition caused by issues with the complement system, particularly due to Factor H deficiency, and is typically treated with eculizumab for life.
- - Two young patients with Factor H deficiency on long-term eculizumab therapy exhibited unusual bone issues, including pain and deformities, with diagnostic imaging revealing active bone remodeling and C3c accumulation.
- - The bone alterations observed may either be a side effect of eculizumab treatment or a result of the deficiency of Factor H, indicating a need for further research into the bone health of aHUS patients.
Article Synopsis
- Osteoporosis is a skeletal disorder leading to increased fracture risk, and when it affects young individuals, it often indicates genetic causes related to early-onset osteoporosis (EOOP).
- Over 577 patients with primary osteoporosis were studied using next-generation sequencing of 21 bone fragility-related genes, revealing that around 18% had a genetic basis, primarily linked to the LRP5 gene.
- A rare finding included 17 patients with a variant in the PLS3 gene, suggesting the involvement of dominant X-linked osteoporosis, predominantly affecting males, but also identified severe cases in females, pointing toward possible genetic interactions.
Objectives: Extra-osseous (EO) manifestations are poorly characterized in chronic recurrent multifocal osteomyelitis (CRMO). This study aimed to further define the frequency, characteristics and treatment of EO events in CRMO and whether different phenotypes can be distinguished and benefit from special management.
Methods: This multicentre retrospective study included CRMO patients followed in several paediatric rheumatology departments in France between 2015 and 2022.
Familial Mediterranean fever (FMF) is the most frequent hereditary systemic autoinflammatory syndrome. FMF is usually caused by biallelic mutations in the MEFV gene, encoding Pyrin. Conclusive genetic evidence lacks for about 30% of patients diagnosed with clinical FMF.
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