PCSK5 mutation in a patient with the VACTERL association.

Background: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations and gene mutations have been reported as disease-causative, these findings have been sparsely replicated to date.

Case Presentation: In the present study, whole exome sequencing of a case with the VACTERL association uncovered a novel frameshift mutation in the PCSK5 gene, which has been reported as one of the causative genes for the VACTERL association.

[A case of osteomyelitis due to Kingella kingae].

Kingella species including K. kingae are non-motile coccobacilli or short straight rods, and their normal habitats appear to be the upper respiratory and oropharyngeal tracts of humans. In recent years, K.

Split tibia vascularized fibular graft for congenital pseudarthrosis of the tibia: a preliminary report of 2 cases.

Background: Free vascularized fibular graft (FVFG) has been recognized as a curative surgical treatment for congenital pseudarthrosis of the tibia (CPT). However, bone union is not always obtained in some patients, and refracture often occurs in others even after union is achieved. To avoid such complications, we have designed a new split-tibia coaptation technique (STCT) for FVFG.

Tumor location affects the results of simple excision for multiple osteochondromas in the forearm.

Background: The effectiveness of excision of osteochondromas in controlling the progression of forearm and wrist deformity remains an issue of controversy. The purpose of this study was to analyze the effectiveness of tumor excision in the correction of forearm and wrist deformity due to multiple osteochondromas in children, with an interpretation of the results based on different patterns of deformity.

Methods: Fourteen forearms in thirteen children with a follow-up of more than twenty-four months (average, fifty-three months) were included in the study.

Evaluation of postoperative general quality of life for patients with osteosarcoma around the knee joint.

We evaluated the medium and long-term outcomes on the basis of patients' function and general quality of life after three different surgical procedures for osteosarcoma around the knee joints, that is, amputation, prosthetic reconstruction and rotationplasty. Twenty-six procedures in 22 patients who survived for at least 1 year after surgery were assessed for functional analysis (scores of the Musculoskeletal Tumor Society), and health-related quality of life assessment (SF-36) was applied to 17 patients who are alive without the disease. The patients treated with rotationplasty showed significantly high functional scores in two of six categories as compared with those undergoing the other two procedures.

A transepiphyseal fracture of the proximal femur combined with a fracture of the mid-shaft of ipsilateral femur in a child: a case report and literature review.

The paper describes a rare fracture of proximal femur, classified by Delbet (Am J Surg 6:793-797, 1929) as type I (transepiphyseal type) combined with a fracture of the midshaft of ipsilateral femur in a 2-year-old child. Immediate operation with open reduction and internal fixation was successful. During the postoperative course, avascular necrosis (AVN) of capital femoral epiphysis was seen by bone scan.

Three-dimensional starch model for simulation of corrective osteotomy for a complex bone deformity: a case report.

The complex valgus deformity of the right ankle of a 24-year-old Maffucci syndrome man was corrected by three-dimensional osteotomy followed by limb lengthening. Before surgical correction of the deformity, we used computed tomography data to make a life-size three-dimensional plastic model of the deformed ankle for an accurate understanding of the anatomical deformity. We then used this model to perform a simulated osteotomy.