The Whole-Exome Sequencing of a Cohort of 19 Families with Adolescent Idiopathic Scoliosis (AIS): Candidate Pathways.

A significant genetic involvement has been known for decades to exist in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1-3% of the world population. However, though biomechanical and endocrinological theories have emerged, no clear pathophysiological explanation has been found. Data from the whole-exome sequencing performed on 113 individuals in 19 multi-generational families with AIS have been filtered and analyzed via interaction pathways and functional category analysis (Varaft, Bingo and Panther). The subsequent list of 2566 variants has been compared to the variants already described in the literature, with an 18% match rate. The familial analysis in two families reveals mutations in the BICD2 gene, supporting the involvement of the muscular system in AIS etiology. The cellular component analysis revealed significant enrichment in myosin-related and neuronal activity-related categories. All together, these results reinforce the suspected role of the neuronal and muscular systems, highlighting the calmodulin pathway and suggesting a role of DNA-binding activities in AIS physiopathology.

Lumbar scoliosis and stenosis: What outcomes for which treatment? Analysis of three surgical techniques in 154 patients with minimum two-year follow-up.

STUDY DESIGN: Prospective multicentric study. OBJECTIVE: This study goal was to analyze the clinical and radiographic outcomes of lumbar stenosis and scoliosis (LSS) patients, treated with lumbar decompression (LD), short fusion and decompression (SF) or long fusion with deformity correction (LF). HYPOTHESIS: Procedures without correction lead to poorer long-term outcomes. METHODS: Consecutive patients with two-year minimum follow-up, older than 50, with lumbar scoliosis (Cobb angle>15°), and symptomatic lumbar stenosis were included. Age, gender, Lumbar and Radicular Visual Analog Scale, ODI, SF12 and SRS30 were collected. Main and adjacent curves Cobb angles, C7 coronal tilt (C7CT), spinopelvic parameters, and spino-sacral angle (SSA) were measured preoperatively, at one and two years. Patients were sorted into surgery type groups. RESULTS: In total, 154 patients were included, with respectively 18, 58 and 78 patients in LD, SF and LF groups. Mean age was 69, 85% were women. Clinical scores improved in each group at one year, but only LF group exhibited persistent improvement at 2years. A significant fractional Cobb angle increase was noted in the SF group at 2years (from 12±11° to 18±14°). C7CT significantly increased in the LD group at 2years (from 2.5±1.3° to 5.1±3.5°). LF group presented the highest complication rate (45%, 19% for SF and 0% for LD). The overall revision rate was 14% in SF group and 30% in LF group. CONCLUSION: LSS is a complex pathology requiring custom-made surgical treatment. LD, SF and LF allow satisfactory clinical outcome, with a better and more sustained clinical improvement for LF despite higher complication and revision rates. LEVEL OF EVIDENCE: IV.

Efficacy of integuseal for surgical skin preparation in children and adolescents undergoing scoliosis correction.

STUDY DESIGN: Prospective randomized trial. OBJECTIVE: To explore the use of a microbial sealant applied before the surgical incision to reduce surgical site infection in patients with scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of superficial or deep infections is reported in 2 groups of patients treated for neuromuscular or adolescent idiopathic scoliosis. Statistical analysis aimed to compare the effect of the use of a cyanoacrylate microbial sealant on infection rate. METHODS: From June 2010 to June 2011, 56 patients were prospectively enrolled in the study. Using a random number table, patients were assigned either to receive or not a sterile, film-forming cyanoacrylate liquid application (Integuseal). Epidemiological data and infection occurrence were compared in both groups. RESULTS: Statistical analysis comparing patients with neuromuscular scoliosis and adolescent idiopathic scoliosis showed that patients with neuromuscular scoliosis had more fused levels, increased intraoperative bleeding, and longer intraoperative time. Six patients had early postoperative infections of the posterior approach, which included 3 deep and 3 superficial infections. Five infections occurred in patients treated with Integuseal. Outcome was favorable in 6 cases after local wound debridement and antibiotics. Nonparametric statistical tests (Fisher exact test) showed no significant correlation (P = 0.096) between early postoperative infection occurrence and the use of Integuseal. CONCLUSION: Although microbial sealant may be a useful addition to a multimodal approach to minimize surgical site infection, there is currently insufficient evidence as to whether the use of microbial sealants reduces the risk of surgical site infection in patients undergoing scoliosis surgery.