• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.4
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• pp.651-658
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• 2004

Runx2 is a transcription factor in homologous with Drosophila runt gene and it is essential for bone formation during embryogenesis and a critical gene for osteoblast differentiation and osteoblast function. Runx2-haploinsufficency causes cleidocranial dysplasia (CCD). CCD is an autosomal-dominant inherited disorder characterized by hypoplastic clevicle and delayed ossification in fontanelles and wormian bones. Dental defects are possibly shown to CCD patients : multiple supernumerary teeth, irregular and compressed permanent tooth crowns, hypoplastic and hypomineralized defects in enamel and dentin, an excess of epithelial root remnants, the absence of cellular cementum, and abnormally shaped roots. In addition, delayed eruption of the secondary dentition is a constant finding. The aim of this study is to evaluate the role of Runx2 in the tooth development and eruption through analyzing the expression pattern of Runx2 by in situ hybridization during crown (late bell stage) and root formation of tooth, using postnatal day 1, 4, 7, 14 and 21 mice mandibular molar teeth. mRNA of Runx2-full length is expressed in dental follicle and surrounding tissue at postnatal day1 and 4. At postnatal day 7, it is expressed in ameloblasts of occlusal surface of enamel and bone area surrounding the tooth. In comparison with previous stage, at postnatal day 14, it is expressed in ameloblasts of proximal surface of enamel. At postnatal day 21 it's expression is observed only in bone area. mRNA of Runx2-typeII is not expressed. At postnatal day 1 and 7. At postnatal day 14 and 21, it's expression is observed in the bone area. In this study, we suggest that Runx2 have a relation of ameloblasts differentiation and an important role to tooth eruption made by dental follicle during intraosseous eruption stage. Also we can confirm that Runx2 has a role to bone formation.

• Journal of the Korean Orthopaedic Association
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• v.55 no.6
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• pp.520-526
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• 2020

Purpose: The need for revision fusion surgery after spinal fusion has increased. A revision rod that connects to the previous rod was newly developed for revision surgery. The purpose of this study was to analyze the clinical and radiological results after spinal fusion revision surgery using revision rods. Materials and Methods: Twenty-one patients who underwent revision fusion surgery after spinal fusion in two university hospitals with minimum 1 year follow-up were reviewed. This study assessed 16 cases of adjacent-segment disease, four cases of thoracolumbar fracture, and one case of ossification of ligament flavum. The Oswestry Disability Index (ODI) and numerical rating scale (NRS) were evaluated as clinical outcomes, and the union rate, lordosis or kyphosis of the revision level, lumbar lordosis, T5-12 kyphosis, and proximal junctional kyphosis angle were evaluated as the radiological outcomes. Results: The average ODI was 54.6±12.5 before surgery and improved to 29.8±16.5 at the final follow-up. The NRS for back pain and leg pain was 5.0±1.7 and 6.4±2.0 before surgery, which changed to 2.9±1.6 and 2.9±2.2 at the final follow-up. Lumbar lordosis was 18.1°±11.9° before surgery and 21.1°±10.3° at the final follow-up. Proximal junctional kyphosis was 10.8°±10.1° before surgery, and 9.2°±10.5° at the final follow-up. These angles were not changed significantly after surgery. Bony union was successful in all cases except for one case who underwent posterolateral fusion. Conclusion: Revision surgery using a newly developed revision rod on the thoracolumbar spine achieved good clinical outcomes with successful bony union. No problems with the newly developed revision rod were encountered.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.7-14
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• 2021

Purpose: Pseudohypoparathyroidism (PHP) is caused by genetic and epigenetic alteration in the GNAS locus, and characterized by the resistance to multiple hormones and the Albright's hereditary osteodystrophy (AHO) phenotype. This study investigated the phenotypic characteristics and molecular features of PHP. Methods: Eight patients who diagnosed as PHP were enrolled at Pusan National University Children's hospital and clinical features, biochemical and genetic findings were retrospectively reviewed. Results: Of a total of 8 patients, 5 were diagnosed with PHP1a, and 3 were diagnosed with PHP1b. Patients with PHP1a had three different mutations in the GNAS gene, and patients with PHPIb had imprinting defect in differentially methylated regions (DMRs) of the GNAS locus. Two novel GNAS variants were identified in patients with PHP1a, including c.313-2A>T and c.1094G>A. All patients with PHP1a displayed AHO features; short stature (80%), brachydactyly (80%), a round face (80%), obesity (40%), heterotopic ossification (60%), and intellectual disability (60%), whereas only one patient (33.3%) with PHP1b showed AHO feature such as a round face. When phenotypic features between PHP1a and PHP1b patients were compared, patients with PHP1b showed a tendency of higher current height standard deviation scores (SDS) compared to patients with PHP1a, (-3.2±2.1 vs.-1.1±0.8; P=0.06) Conclusions: This study summarizes the phenotypic and genetic features of the PHP patients. Although we found considerable clinical overlap between PHP1a and PHP1b, further long-term follow-up is needed to evaluate the growth and development of children with PHP, as well as the effects of end-organ resistances to endocrine hormones.