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. Although this mutation appears potentially pathogenic in its functional aspects, it was also carried by the healthy father. Furthermore, a database survey revealed several other deleterious variants in the PCSK5 gene in the general population. CONCLUSIONS: Further studies are necessary to clarify the etiological role of the PCSK5 mutation in 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. kingae strains have been increasingly recognized as common causes of invasive infections in children at the age of less than 4 years. In Japan, however, invasive K. kingae infections including osteomyelitis have rarely been described. We incidentally encountered isolation of a K. kingae strain from intraoperatively obtained specimens from a previously healthy 44-month-old boy. He first consulted a nearby medical facility and a suspected diagnosis of osteomyelitis was made, after which the patient was then transferred to our Nagano Children's hospital. There was evidence of inflammation in his right calcaneus and toe walking was noted. He was treated with surgical drainage. An isolate grown on sheep blood agar with positive oxidase and negative catalase was biochemically characterized with the ID-Test HN20 (Nissui Pharmaceutical Co., Ltd., Tokyo, Japan) kit system together with genetic examinations involving sequencing the 16S rRNA gene, and the infection was finally identified as K. kingae. The patient was successfully treated with cefotiam (CTM) for the first 7 days followed by the administration of trimethoprim-sulfamethoxazole (ST) for an additional 2 months. The K. kingae isolate was confirmed as a sure causative pathogen by observing that the serum showed high agglutinin titers against the isolate. Accumulation of the case reports in Japan with the isolation of this species is essential for clarifying invasive infections due to K. kingae. Our case report is a noteworthy and useful piece of information.

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. METHODS: We performed FVFG using STCT in 2 patients with CPT. Both the proximal and distal stumps of the tibia were split longitudinally into 2 with minimum tibial resection, and then a fibular graft was placed into the formed gutters and stabilized by external fixation. RESULTS: Successful bone union was achieved at postoperative weeks 13 and 12, respectively. The diameter of each fibular graft was enlarged to 107% and 83% of the contralateral tibia, and refracture did not occur during the follow-up periods of almost 7 and 4 years. Both the patients could walk without any limitations. CONCLUSIONS: This novel coaptation technique for FVFG provides early bone union, enlargement of graft diameter, and prevention against refracture in patients with CPT.

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. The forearms were divided into two groups on the basis of the location of the tumor and the pattern of deformity. In Group 1 (six forearms), the osteochondroma was only in the distal aspect of the ulna and caused compression of the radius. In Group 2 (eight forearms), tumors were in both the distal aspect of the ulna and the ulnar side of the distal part of the radius and were in contact with each other. Radial length, ulnar shortening, radial bowing, the radial articular angle, and carpal slip were measured as radiographic parameters. Ulnar shortening and radial bowing were expressed as a percentage of the radial length to make it possible to compare data between the individuals. Each parameter was evaluated before surgery and at the time of final follow-up. RESULTS: In Group 1, the percentage of ulnar shortening and the percentage of radial bowing had improved at the time of final follow-up; however, in Group 2, both the radial articular angle and the percentage of radial bowing had deteriorated significantly after the tumor excision (p = 0.049 and p = 0.017, respectively), even though the percentage of ulnar shortening showed no change. CONCLUSIONS: The effectiveness of simple excision of osteochondromas of the distal aspect of the forearm is influenced by the tumor location and is related to the pattern of the deformity. Simple tumor excision can correct the forearm deformity in patients with an isolated tumor of the distal part of the ulna. Conversely, in patients with tumors involving the distal part of the ulna and the ulnar side of the distal end of the radius, tumor excision alone is a less promising procedure for the correction of the deformity. LEVEL OF EVIDENCE: Prognostic Level IV.

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. The scores of SF-36 also showed higher values for seven of eight subscales, however, no significant differences were observed for any subscale. We demonstrated that despite no statistical difference in patient self-assessment of outcome between the treatment modalities, there were functional benefits of rotationplasty over prosthetic reconstruction and amputation.

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. Applying an abduction orthosis used for the treatment of Legg-Calvè-Perthes disease, collapse of capital epiphysis was prevented. Although, a minimal area of AVN and coxa vara remained, no clinical complaints were recorded at the midterm follow-up. While reviewing the relevant literature, the type-I fractures need to be subclassified into two types for appropriate treatment and/or prediction of outcomes based on their anatomic location of the separated femoral capital epiphysis. In type Ia, femoral capital epiphysis is minimally displaced and within the acetabulum and in type Ib it is widely displaced and lying outside the capsule. Our case is a first case of a type Ib fracture of the proximal femur combined with a fracture of the midshaft of ipsilateral femur. Since the complication rate and the prognosis differed between two subclasses, type-Ib fractures need immediate surgical intervention, our case was prevented from massive AVN. And to prevent the collapse of femoral head following AVN, a major complication of the fracture of proximal femur in child, abduction orthosis is recommended as a choice of treatment.

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. The real osteotomy was performed immediately afterwards and valgus and recurvatum deformities were corrected accurately. We recommend simulated surgery using a three-dimensional plastic model which will improve the pre-operative planning technique and the accuracy of the end results.