Publications by authors named "Sarah Bakhamis"

Context: X-linked hypophosphatemia (XLH) is the most common form of inherited hypophosphatemic rickets (HR), caused by pathogenic variants in the gene. Genetic diagnosis of XLH facilitates early treatment optimization, especially for patients suitable for burosumab, a recombinant anti-fibroblast growth factor-23 monoclonal antibody.

Objective: This study aimed to use whole-exome sequencing (WES) and pedigree analysis to identify patients with XLH.

View Article and Find Full Text PDF

Glucocorticoid (GC) therapy remains the cornerstone of treatment for many conditions of childhood and an important cause of skeletal and endocrine morbidity. Here, we discuss cases that bring to life the most important concepts in the management of pediatric GC-induced osteoporosis (pGIO). Given the wide variety of underlying conditions linked to pGIO, we focus on the fundamental clinical-biological principles that provide a blueprint for management in any clinical context.

View Article and Find Full Text PDF
Article Synopsis
  • A study evaluated the effects of COVID-19 on children with Osteogenesis Imperfecta (OI), a rare genetic disorder that causes fragile bones, revealing that patients typically experienced mild illness without requiring hospitalization.
  • Out of 146 OI patients analyzed, 12 had confirmed COVID-19, with a majority being under 18 years old, and none had been fully vaccinated before getting sick.
  • The study concluded that young age and the mild nature of their illness contributed to a favorable recovery for OI patients, contrasting with other genetic disorders that face more severe impacts from COVID-19.
View Article and Find Full Text PDF

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency.

View Article and Find Full Text PDF