Publications by authors named "D Fron"
Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.
View Article and Find Full Text PDFArticle Synopsis
- - This study aimed to investigate how social health inequalities might affect the treatment of adolescent idiopathic scoliosis in the French healthcare system by analyzing the care pathway from diagnosis to post-surgery.
- - Researchers reviewed data from 883 patients who underwent surgery for scoliosis between 2009 and 2019, focusing on factors like Cobb angle measurements, brace compliance, and surgical outcomes, using regression models to assess socioeconomic influences.
- - The findings indicated that socioeconomic deprivation had a limited impact on treatment management, with significant effects only observed at the first consultation and on postoperative correction, highlighting the need for improved screening practices and further research on socioeconomic factors.
Background: In the presence of pain over the lateral aspect of the foot or recurrent ankle sprain in children, medical imaging is often employed to investigate potential causes, such as a calcaneonavicular coalition or a too-long anterior process (TLAP) of the calcaneus. Diagnosis and categorization of calcaneonavicular coalitions (synostosis, synchondrosis, or synfibrosis) is generally facilitated through imaging, in contrast to TLAP, which lacks well-defined semiological characteristics, apart from a calcaneonavicular space measurement of less than 5 mm. However, this measurement initially performed on an oblique view radiograph can be subject to a lack of precision due to positional variations of the foot and overlapping bones.
View Article and Find Full Text PDF