BACKGROUND The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots. RESULTS Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation. CONCLUSIONS The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K–AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (Funded by the Intramural Research Program of the National Human Genome Research Institute.)

Utilizing formal consensus-building methods in a large group of surgeons experienced in treating early-onset scoliosis, a novel classification system for early-onset scoliosis was developed with all core components demonstrating substantial to excellent interobserver reliability. This classification system will serve as a foundation to guide ongoing research efforts and standardize communication in the clinical setting.

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Children with pediatric pelvic fractures require careful evaluation for other body-area injuries, as these are most likely to be related to hemorrhage or mortality.

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The results of this study confirmed that the use of intraoperative Amicar is a safe, effective, and inexpensive method to significantly reduce perioperative blood loss in patients with idiopathic scoliosis undergoing posterior spinal fusion and segmental spinal instrumentation. The results have allowed us to reduce our recommendation for perioperative autologous blood donation, thereby further decreasing costs.

Although melatonin deficiency may cause scoliosis in the chicken, this study suggests that it is not a mechanism in the pathogenesis of adolescent idiopathic scoliosis in humans.

Purpose Outcomes in children with supracondylar humerus fractures were stratified by type of treating orthopedic surgeon: pediatric orthopedic surgeon and nonpediatric orthopedic surgeon. Methods The outcome factors in 444 children examined included: open reduction rate, complications, postoperative nerve injury, repinning rate, need for physical therapy, and residual nerve palsy at final follow-up. Results For the severe fractures, significantly more fractures were treated by open reduction in the pediatric orthopedic surgeon group than in the nonpediatric orthopedic surgeon group. There were no other significant differences in outcomes between the fractures treated by the pediatric orthopedic surgeons and nonpediatric orthopedic surgeons. Conclusions This study supports the assertion that both pediatric and nonpediatric orthopedic surgeons in an academic setting have sufficient training, skill, and experience to treat these common injuries.