Publications (4)6.83 Total impact
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Article: A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia.
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ABSTRACT: The runt-related transcription factor 2 (RUNX2) is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). Molecular analysis of the RUNX2 gene in a 2-year-old boy with a diagnosis of CCD demonstrated a heterozygous in-frame 9-bp deletion (c.593_601delCCTTGACCA, corresponding to the amino-acid deletion p.ΔTLT198_200). Transcription activity of the ΔTLT198_200 mutant decreased in a similar degree to that of the L199F mutant, which was previously reported in the case with classic CCD. Atomic model assessment demonstrated that the ΔTLT198_200 mutation abolished the heterodimerization of the RUNX2 protein with the partner subunit, polyomavirus enhancer-binding protein 2β (PEBP2β). Destruction of RUNX2/PEBP2β heterodimerization activity appears to impair the function of the RUNX2 protein and cause the disease.Journal of Bone and Mineral Metabolism 04/2013; · 2.27 Impact Factor -
Article: Prognostic factors for trochanteric overgrowth after containment treatment in Legg-Calvé-Perthes disease.
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ABSTRACT: Trochanteric overgrowth is one of the major residual deformities after the treatment of Legg-Calvé-Perthes disease. The present study was designed to determine the predictive factors for trochanteric overgrowth at skeletal maturity in patients with the disease. Medical records and radiographs of 45 Legg-Calvé-Perthes disease patients who were treated with containment therapy at our institution were reviewed retrospectively. Univariate analysis was carried out to determine the predictors for trochanteric overgrowth using the Mann-Whitney U-test for continuous variables and the Pearson test for categorical variables. Independent multivariate predictors were identified using logistic regression analysis. Trochanteric overgrowth, defined as articulotrochanteric distance less than +5 mm, was observed in 10 patients (22%). There was a strong correlation between the final Stulberg outcome and trochanteric overgrowth (P=0.0003). Lateral pillar height was the only statistically significant predictor for trochanteric overgrowth at skeletal maturity in univariate and multivariate analyses. The risk for the development of trochanteric overgrowth was much greater in the lateral pillar C hip (44%) than in the lateral pillar B or B/C hip (10%). For the patients with decreased lateral pillar height, a careful follow-up is necessary to make an early decision of prophylactic epiphyseodesis of the greater trochanter.Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America 02/2013; · 0.66 Impact Factor -
Article: Isolated bifid rib: Clinical and radiological findings in children.
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ABSTRACT: Background: Bifid rib is usually asymptomatic but sometimes occurs associated with other pathological conditions. The aim of this study was to investigate clinical and radiological characteristics in children with bifid rib. Methods: Nine children with the diagnosis of bifid rib between 2005 and 2010 were reviewed. Chest radiography and computed tomography (CT) were performed in all patients, and 3-D images were additionally reconstructed in six patients. Results: Five girls and four boys with a mean age at presentation of 4.2 years had various types of unilateral bifid rib. Seven patients complained of a chest wall mass, whereas two patients whose costal abnormalities were incidentally detected on chest radiography were asymptomatic. Bifid ribs were confirmed on plain radiographs in six patients, while the other three patients were finally diagnosed on reconstruction 3D-CT. One patient with a flared rib on a radiograph showed bifurcation of the costal cartilage on 3D-CT. The other two patients with upper rib abnormalities on radiography had downward extension of the cervical or first rib articulating with the upper branch of the bifid first or second rib, respectively. Conclusion: Reconstruction 3D-CT can demonstrate complicated thoracic abnormalities in patients with atypical appearance of the rib on plain radiographs. An isolated bifid rib may require no further intervention.Pediatrics International 05/2012; · 0.63 Impact Factor -
Article: Early clinical and radiographic characteristics in fibrodysplasia ossificans progressiva: a report of two cases.
The Journal of Bone and Joint Surgery 05/2011; 93(10):e52. · 3.27 Impact Factor
