Publications by authors named "G Maruani"
X-linked hypophosphatemic rickets (XLH) is a genetic cause of renal hypophosphatemia due to inactivation of the PHEX gene, with an inappropriate concentration of fibroblast growth factor 23 (FGF23). Burosumab, an anti-FGF23 monoclonal antibody, is a validated treatment for XLH, but its use in patients with chronic kidney disease (CKD) has not been validated. A 61-year-old man with XLH developed CKD during follow-up.
View Article and Find Full Text PDFBiallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. In addition, mice deleted for Slc34a3 exhibit a different phenotype compared to humans, without urinary phosphate leakage.
View Article and Find Full Text PDFBackground: Individuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study was to systematically review the skeletal manifestations of SATB2-associated syndrome.
View Article and Find Full Text PDFArticle Synopsis
- Recent guidelines have been established for managing patients with chronic hypoparathyroidism, but little is understood about how closely physicians follow these recommendations.
- A study involving 118 physicians and 107 patients in France aimed to assess the practice patterns of doctors and their compliance with international guidelines over several years.
- Results showed that while many physicians monitor calcium levels regularly and prescribe appropriate medications, only about one-third reported fully adhering to the established guidelines, indicating a need for broader inclusion of various medical specialties in future recommendations.
Cherubism as a systemic skeletal disease: evidence from an aggressive case.
BMC Musculoskelet Disord
August 2020
Article Synopsis
- Cherubism is a rare genetic condition caused by a mutation in the SH3BP2 gene that affects the jaw bones, making them soft and filled with certain types of cells.
- Scientists found a 6-year-old girl with a severe form of cherubism who showed not only jaw problems but also low bone density and signs of inflammation in her body.
- If it turns out that cherubism can affect the whole skeleton, it could make treatment easier for patients, potentially using new medicines that target their entire body instead of just the jaw area.