Skeletal and Metabolic Bone Disorders with special reference to African Americans

The human skeleton is living tissue that is either growing or being renewed. Our understanding of the pathogenesis of bone disorders has progressed considerably over the past 37 years. A large number of genetic and developmental disorders affect the skeleton. Rare bone diseases account for 5% of all birth defects. The skeletal dysplasias are inherited in an autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant, and Y-linked manner.

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

Background Children with rare bone diseases (RBDs), whether medically complex or not, raise multiple issues in emergency situations. The healthcare burden of children with RBD in emergency structures remains unknown. The objective of this study was to describe the place of the pediatric emergency department (PED) in the healthcare of children with RBD. Methods We performed a retrospective single-center cohort study at a French university hospital. We included all children under the age of 18 years with RBD who visited the PED in 2017. By cross-checking data from the hospital clinical data warehouse, we were able to trace the healthcare trajectories of the patients. The main outcome of interest was the incidence (IR) of a second healthcare visit (HCV) within 30 days of the index visit to the PED. The secondary outcomes were the IR of planned and unplanned second HCVs and the proportion of patients classified as having chronic medically complex (CMC) disease at the PED visit. Results The 141 visits to the PED were followed by 84 s HCVs, giving an IR of 0.60 [95% CI: 0.48–0.74]. These second HCVs were planned in 60 cases (IR = 0.43 [95% CI: 0.33–0.55]) and unplanned in 24 (IR = 0.17 [95% CI: 0.11–0.25]). Patients with CMC diseases accounted for 59 index visits (42%) and 43 s HCVs (51%). Multivariate analysis including CMC status as an independent variable, with adjustment for age, yielded an incidence rate ratio (IRR) of second HCVs of 1.51 [95% CI: 0.98–2.32]. The IRR of planned second HCVs was 1.20 [95% CI: 0.76–1.90] and that of unplanned second HCVs was 2.81 [95% CI: 1.20–6.58]. Conclusion An index PED visit is often associated with further HCVs in patients with RBD. The IRR of unplanned second HCVs was high, highlighting the major burden of HCVs for patients with chronic and severe disease.