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Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.

Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene, fibrillin-2 (FBN2), were sequenced in a total of 852 AIS cases and 669 controls. In individuals of European ancestry, rare variants in FBN1 and FBN2 were enriched in severely affected AIS cases (7.6%) compared with in-house controls (2.4%) (OR = 3.5, P = 5.46 × 10(-4)) and Exome Sequencing Project controls (2.3%) (OR = 3.5, P = 1.48 × 10(-6)). Scoliosis severity in AIS cases was associated with FBN1 and FBN2 rare variants (P = 0.0012) and replicated in an independent Han Chinese cohort (P = 0.0376), suggesting that rare variants may be useful as predictors of curve progression. Clinical evaluations revealed that the majority of AIS cases with rare FBN1 variants do not meet diagnostic criteria for Marfan syndrome, though variants are associated with tall stature (P = 0.0035) and upregulation of the transforming growth factor beta pathway. Overall, these results expand our definition of fibrillin-related disorders to include AIS and open up new strategies for diagnosing and treating severe AIS.

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Closed and open methods have proven highly effective for the treatment of PSCJ injuries. However, follow-up data reported in the literature vary considerably. Closed reduction is most effective when attempted less than 48 hours after the initial injury.

Background Although venous thromboembolism has been well studied in the pediatric trauma population, rates of VTE associated with elective pediatric orthopaedic procedures have not been addressed in current literature. The purpose of this retrospective study was to identify the incidence of venous thromboembolism (VTE) in the elective pediatric orthopaedic surgical population and delineate subsets of this population at greatest risk. This study may provide valuable data to begin the process of resolving the controversy surrounding DVT prophylaxis in the pediatric orthopaedic population. Methods The Pediatric Health Information System (PHIS) was queried for patients admitted on an ambulatory or inpatient basis aged <18 years from 1/2006 to 3/2011 during which an elective orthopaedic surgery was the principal procedure performed. Patients with diagnoses or procedures related to infection, trauma, malignancy, or coagulopathies were excluded. Patients admitted through the emergency department (ED) or whose orthopedic procedure was not performed on the admission date were excluded. Age, gender, ethnicity, race, admission year, and all procedures/diagnoses were recorded. The presence of VTE at the index admission or any subsequent readmission within 90 days was recorded. All criteria were coded using ICD-9-CM codes. Generalized logistic regression analyses were used to identify factors related to VTE. Results 143,808 admissions (117,676 patients) matched the inclusion criteria. 33 had a VTE during the index admission with an additional 41 at subsequent readmissions, for a total incidence of 0.0515% by admission and 0.0629% by patient. In the multivariable model, variables significantly [p<0.05] related to VTE included increasing age, admission type, diagnosis of metabolic conditions, obesity, and/or syndromes, and complications of implanted devices and/or surgical procedures. No procedure variables were significantly related to VTE in the multivariable model. Conclusions The incidence of VTE in this cohort of pediatric patients undergoing elective orthopaedic surgery was 0.0515%. In children, underlying diagnosis appears to be a stronger predictor of VTE than procedures performed. Diagnosis with a metabolic condition, syndrome, and/or obesity, complications of implanted devices and/or surgical procedures, older age, and admission as an inpatient were significantly related to the development of a VTE. Level of Evidence Level II; Retrospective prognostic study

The data confirm a previously reported genetic locus on chromosome 19 as potentially significant in the etiology of idiopathic scoliosis.