Publications by authors named "J L Perez-Castrillon"
Background/objective: Optimal vitamin D levels are required for bone health and proper functionality of the nervous, musculoskeletal and immune systems. The objective of this study was to assess the efficacy and safety profiles of new weekly calcifediol formulations with the potential to improve adherence and outcome.
Methods: A Phase II-III, double-blind, randomized, multicentre trial (EudraCT 2020-001099-14 and NCT04735926).
Article Synopsis
- - This study examines genetic factors linked to atypical femoral fractures (AFF), which occur in patients on long-term anti-resorptive therapy, focusing on specific genes related to bone health.
- - Analysis of 13 AFF patients revealed only one with a pathogenic gene variant (ALPL), but significantly more genetic variants were found in AFF patients compared to those without AFF, especially in genes associated with bone formation.
- - The findings suggest that a combination of genetic variants influences the risk of AFF, highlighting specific genes (ACAN, SUCO, AKAP13, ARHGEF3, PITX2, P4HB) as potential risk factors, warranting larger studies for effective patient risk assessment.
Metabolic bone diseases cover a broad spectrum of disorders that share alterations in bone metabolism that lead to a defective skeleton, which is associated with increasing morbidity, disability, and mortality. There is a close connection between the etiology of metabolic bone diseases and genetic factors, with being one of the genes associated therewith. The single nucleotide polymorphism (SNP) Arg72Pro of is a genetic factor associated with several pathologies, including cancer, stroke, and osteoporosis.
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