Makoto Kamegaya

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1–q13.3 (ref. 2), which two other groups confirmed. As the human transforming growth factor-β1 gene (TGFB1) is located within this interval, we considered it a candidate gene for CED.

Treatment of congenital pseudarthrosis of the tibia: a multicenter study in Japan.

Treatment of congenital pseudarthrosis of the tibia (CPT) remains a challenge. To clarify the current situation in treatment, a multicenter study was carried out to obtain information on the results of CPT treatment. The objective of this study was to propose appropriate treatment guidelines for CPT. Records of 73 patients with CPT who underwent surgical treatment were collected from 32 hospitals. The modality of the treatment was 26 with Ilizarov technique, 25 with free vascularized fibular graft, 7 with a combination of the two techniques, 6 with intramedullary nailing with free bone grafting, 5 plating with free bone grafting, and 4 with other treatments. Fifty-four procedures resulted in union, 7 resulted in delayed union, 7 were left un-united, 1 underwent amputation, and the results were unknown in 4. According to the results of this study, the most acceptable methods of treatment of CPT are the Ilizarov method and the vascularized fibular graft.

Ludloff's medial approach for open reduction of congenital dislocation of the hip

We reviewed 33 patients (35 hips) after open reduction of congenital dislocation of the hip using Ludloffs medial approach. The mean age at the time of operation was 14 months (5 to 29) and at the time of final follow-up 20.1 years (15 to 24) giving a mean duration of follow-up of 19.4 years (14 to 23). We evaluated the radiological results by the Severin classification and the extent of avascular necrosis using the criteria of Kalamchi. At the latest review 16 hips (45.7%) were in Severin groups I or II (acceptable results) and 19 (54.3%) in Severin groups III, IV or V (unacceptable results). There was evidence of avascular necrosis in 15 hips (42.9%). The radiological results began to become worse at about the age of ten years when type-II avascular changes presented. We conclude that Ludloffs medial approach for open reduction is unsatisfactory for the treatment of congenital dislocation since about half of our patients required additional operations.

Assessment of stability in children's minimally displaced lateral humeral condyle fracture by magnetic resonance imaging

We studied 12 children who had minimally displaced lateral humeral condyle fractures. Bony gaps at the fracture site were <2 mm on the anteroposterior view of plain radiographs. To determine the stability of the fractures, we used a magnetic resonance imaging (MRI) study of the distal humerus and elbow joint. In the results, two types of fractures were classified by the extent of the fracture line in MRI. Type I showed that the line coursed from the lateral metaphysis to the growth plate but not through it. In type II, the line crossed the growth plate to enter the joint space. We concluded that the MRI study distinguished the potentially unstable fracture (type II) from the minimally displaced fracture and recommend the use of a percutaneous pin fixation for the expected unstable fracture.

Age at time of corticosteroid administration is a risk factor for osteonecrosis in pediatric patients with systemic lupus erythematosus: A prospective magnetic resonance imaging study

OBJECTIVE To clarify whether age at the time of the initial administration of corticosteroids is a risk factor for corticosteroid-associated osteonecrosis in children with systemic lupus erythematosus (SLE), using magnetic resonance imaging (MRI). METHODS From 1986 to 2007, MRI was used to prospectively study 676 joints, including 72 joints (36 hips and 36 knees) in 18 pediatric patients with SLE (<15 years old), 100 joints (50 hips and 50 knees) in 25 adolescent patients with SLE (15-20 years old), and 504 joints (252 hips and 252 knees) in 126 adult patients with SLE (>20 years old), beginning just after corticosteroid administration, for at least 1 year. The followup rate was 100%. RESULTS In pediatric patients, osteonecrosis developed in 4 joints (6%; all hips). In adolescent patients, osteonecrosis developed in 49 joints (49%; 18 hips and 31 knees). In adult patients, osteonecrosis developed in 207 joints (41%; 95 hips and 112 knees). The rate of osteonecrosis was significantly lower in pediatric patients than in adolescent or adult patients (P = 0.0001). Logistic regression analysis revealed that adolescent and adult patients had a significantly higher risk for osteonecrosis compared with pediatric patients, with an odds ratio of 10.3 (P < 0.0001). The youngest patients with osteonecrosis in the hip and knee were 14.9 years old and 15.5 years old, respectively. Osteonecrosis did not develop in patients younger than age 14 years. CONCLUSION Our results suggest that age at the time of the initial administration of corticosteroids is associated with osteonecrosis in pediatric patients with SLE.

Limb lengthening and correction of angulation deformity : Immediate correction by using a unilateral fixator

We performed limb lengthening (callus distraction) with immediate correction of the angulation deformity in 11 patients (16 long-bone segments) in Chiba Childrens Hospital. The operated segments were 14 tibias and two femurs. The average age at operation was 12.0 years (range, 4.8-15.3). All had varus deformities and limb shortening. We used the Orthofix unilateral fixator in all cases. The following two types of osteotomy were selected, depending on the degree of the varus deformity: opening wedge osteotomy if it was < 20 degrees or dome osteotomy if > 20 degrees. The average amounts of the leg lengthening and the correction angle were 32.4 mm (range, 20-50) and 23.8 degrees (range, 15-40 degrees). The average of the healing index was 32.6 days/cm (range, 28.5-36.8 days/cm). There was also no difference in healing index between the two osteotomies groups, despite the greater angular correction in the dome osteotomy group. We concluded that our method of lengthening with immediate correction of deformity was a very simple and effective method.

Musculoskeletal conditions of acute leukemia and malignant lymphoma in children.

We retrospectively reviewed 16 patients who presented to hospitals with orthopaedic complaints. Twelve patients experienced initial symptoms in the extremities and four patients had back pain. The leukocyte count was elevated in one patient, decreased in two patients, and normal in 13 patients. On radiographic examination, osteopenia was observed in 10 patients, osteolytic lesions were observed in five, and pathologic fractures were observed in five. Because the initial presentation of patients with leukemia often involves the musculoskeletal system, orthopaedists need to recognize the symptoms of this disease to avoid misdiagnosis and to expedite the initiation of appropriate potentially lifesaving treatment.

MRI study of talonavicular alignment in club foot

We studied in vivo the talonavicular alignment of club foot in infants using MRI. We examined 26 patients (36 feet) with congenital club foot. The mean age at examination was 9.0 months (4 to 12). All analyses used MRI of the earliest cartilaginous development of the tarsal bones in the transverse plane, rather than the ossific nucleus. The difference in the mean talar neck angle (44.0 +/- 8.1 degrees) in club foot was statistically significant (p < 0.001) when compared with that of the normal foot (30.8 +/- 5.5 degrees). The difference between the mean angles in the group treated by operation (47.9 +/- 6.7 degrees) and those treated conservatively (40.1 +/- 7.5 degrees) was also statistically significant. The anatomical relationship between the head of the talus and the navicular was divided into two patterns, based on the position of the mid-point of the navicular related to the long axis of the head. In the operative group, 18 feet were classified as having a medial shift of the navicular and none had a lateral shift. In the conservative group, 12 showed a medial shift of the navicular and six a lateral shift. All nine unaffected normal feet in which satisfactory MRI measurements were made showed a lateral shift of the navicular. Club feet had a larger talar neck angle and a more medially deviated navicular when compared with normal feet. This was more marked in the surgical group than in the conservative group.

A proposed prognostic formula for Perthes' disease

We retrospectively reviewed 145 patients with unilateral Perthes’ disease and compared a quantitative analysis of early radiographic signs with a predicted prognosis at long-term followup. The average age of the patients at followup was 18.7 years (range, 16.2-27.5 years). We used the age at onset and three radiographic factors as independent variables for multiple regression analysis. The final radiographic results were based on a modified Stulberg’s classification as the dependent variable. Fifty patients (35%) had a good outcome, 33 patients (23%) had a fair outcome, and 62 patients (42%) had a poor outcome. The most reliable formula in the stepwise multiple regression analysis was calculated as: y = −0.697 + 0.418 (age score) + 0.860 (involvement score) + 0.248 (subluxation score). The radiographic stage at first visit had no influence on the final results. Multifactorial assessment by combination of age at onset and two radiographic factors (epiphyseal involvement and subluxation) was the most reliable for predicting the prognosis. A score of 1.5 points or less predicted a good prognosis and a score of 2.6 or more indicated a poor prognosis. Level of Evidence: Prognostic study, Level IV (case series). See the Guidelines for Authors for a complete description of levels of evidence.

Humeral Shortening and Inferior Subluxation as Sequelae of Septic Arthritis of the Shoulder in Neonates and Infants

BACKGROUND Although humeral shortening as a sequel of septic arthritis of the shoulder in infants has been reported in previous studies, functional disorders of the shoulder resulting from humeral shortening have not yet been clarified. In this study, we retrospectively investigated the long-term outcome of septic arthritis of the shoulder in neonates and infants and examined the relationship between growth disturbance of the humerus and decreased range of motion with respect to glenohumeral joint laxity. METHODS We reviewed the cases of fifteen patients (sixteen shoulders) with an age of a few days to 2.6 years at the onset of the disease who were followed from 5.0 to 17.9 years. We noted the initial treatment method and evaluated humeral length and shoulder function at the time of the final follow-up. For the final treatment results, we classified the shoulders with normal findings on radiographs as Grade I, those with humeral head deformity as Grade II, and those with humeral head deformity with inferior subluxation as Grade III. RESULTS Primary treatment included arthrotomy in ten shoulders. The delay between the onset of the disease and surgery ranged from three to twenty-six days. At the time of the final follow-up, the results were Grade I in five shoulders, Grade II in six shoulders, and Grade III in five shoulders. The mean humeral shortening was 0.1 cm for Grade-I shoulders, 0.9 cm for Grade-II shoulders, and 7.3 cm for Grade-III shoulders. All Grade-III shoulders had >or=3 cm of shortening, and four of the five Grade-III shoulders showed limitation of elevation (abduction of <130 degrees ). None of the Grade-III shoulders had undergone arthrotomy within ten days after the onset of the disease. CONCLUSIONS Inferior subluxation of the humeral head related to shoulder dysfunction resulting from early childhood septic arthritis accompanied humeral shortening of >or=3 cm and was only observed in patients who did not undergo arthrotomy of the shoulder within ten days after the onset of the infection.