No abstract

Background. As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal diagnosis. Methods. In this study, 14 diagnosed OI patients from sporadic Chinese families were enrolled to be screened for potential mutations from these patients by next-generation sequencing technology. Results. 34 different variants were identified. 18 variants were from 4 OI-related genes including COL1A1, COL1A2, P3H1, and WNT1, and 10 variants are novel. Most OI patients (11 out of 14, 78%) harbor variants in type I collagen genes. Conclusions. Our results support previously established estimates of the distribution and prevalence of OI mutations and highlight both phenotype and genetic heterogeneity among and within families. We report several novel variants of OI, which expands the clinical spectrum of OI. In summary, our data provides disease-causing genes information for genetic counseling towards OI patients and families and also provides a reference for clinicians in the diagnosis of OI, also in prenatal diagnosis of this disease.

BACKGROUND Neonatal distal humeral physeal fractures are rare and difficult to diagnose. Thus, missed diagnoses and delayed healing are possible. Few studies have reported surgical treatment, because a callus may develop at the fracture site 5 d after the fracture, resulting in difficult reduction, and reduction of the limb may cause further physeal injury. Other surgical challenges include the provision of adequate anesthesia and complexity of the operation. However, without appropriate reduction and fixation, a varus elbow deformity may develop. Manual reduction and percutaneous pin fixation are ideal treatment options. CASE SUMMARY A 4-day-old neonate with left elbow pain accompanied by limited movement for 4 d was admitted, and diagnosed with delayed physeal fracture of the distal humerus based on physical examination, ultrasonography, and magnetic resonance imaging. The patient was treated by manual reduction combined with percutaneous pin fixation under arthrography. Postoperatively, the reduction was successful. The upper limbs could have been lifted and the fingers could have been moved freely on the second day after the operation. CONCLUSION The techniques of manual reduction and percutaneous pin fixation, to treat neonatal distal humeral physeal fractures, are safe and reliable.

Exercise intervention has become one of the most effective methods to prevent and treat osteoporosis, which is a common age-related disease and seriously affects the health and quality of life of the elderly. However, the molecular mechanism remains to be elucidated. The present study demonstrated the exercise-induced promotion of osteogenic differentiation and inhibition of adipogenic differentiation in femur and tibia by establishing an animal exercise model using a treadmill exercise system. MicroRNA (miRNA/miR) and long non-coding (lnc)RNA sequencing analyses identified 16 upregulated and two downregulated miRNAs in the exercise group, as well as 44 upregulated lncRNAs and 39 downregulated lncRNAs in the exercise group. There was increased expression of miR-9942 and miR-7704 in both the femur and tibia and an upregulation of miR-30d, miR-5100 and miR-1260 in the femur of animals from the exercise group. In addition, four of the five most downregulated lncRNAs, including lncRNA MSTRG.2625, lncRNA MSTRG.1557, lncRNA MSTRG.691 and lncRNA MSTRG.7497, were demonstrated to be suppressed in both the femur and tibia after treadmill exercise. The results of the present study provided a valuable resource for further exploring the molecular mechanisms underlying the regulation of osteoporosis by exercise.