Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD.</p><p><b>METHODS</b>We made genetic testing on this sporadic Chinese case and identified a novel RUNX2 frameshift mutation: c.1111dupT. In situ immunofluorescence microscopy and osteocalcin promoter luciferase assay were performed to compare the functions of the RUNX2 mutation with those of wild-type RUNX2.</p><p><b>RESULTS</b>RUNX2 mutation was observed in the perinuclear region, cytoplasm, and nuclei. In contrast, wild-type RUNX2 was confined in the nuclei, which indicated that the subcellular compartmentalization of RUNX2 mutation was partially perturbed. The transactivation function on osteocalcin promoter of the RUNX2 mutation was obviously abrogated.</p><p><b>CONCLUSIONS</b>We identified a sporadic CCD patient carrying a novel insertion/frameshift mutation of RUNX2. This finding expanded our understanding of CCD-related phenotypes.</p>

Chin morphology in subjects with different vertical skeletal craniofacial pattern / 华西口腔医学杂志

<p><b>OBJECTIVE</b>To evaluate whether there is difference with regard to chin morphology in subjects with different vertical skeletal craniofacial pattern and the relationship among them.</p><p><b>METHODS</b>The sample was composed of 80 adolescents who denied orthodontic treatment history and presented Class I skeletal pattern, aged (12.69+/-0.70) years. They were divided into three groups according to mandibular plane angle: High angle group (21 cases, FH/MP> or = 32 degrees), average angle group(43 cases, 22 degrees <FH/MP<32 degrees) and low angle group(16 cases, FH/MP < or = 22 degrees). Cepholagrams were taken and cepholametrics was employed. Both vertical and horizontal craniofacial pattern were evaluated. In addition, chin dimensions studied included height, depth, ratio (depth/height), angle, and so on. They were compared between different groups with One-Way ANOVA. Correlation was analyzed between vertical skeletal craniofacial pattern and chin morphology.</p><p><b>RESULTS</b>SNA, SNB and ANB presented no significant difference among three groups. Compared with the low angle group, high angle subjects exhibited increased chin height, depth/height ratio, concavity and decreased chin angle. Therefore the chin looked lathier and less protrusive in high angle group. Positive correlation was found between mandibular plane angle and chin height, concavity, curvature (P<0.05), negative correlation between mandibular plane angle and chin minimal depth, depth/height ratio, angle.</p><p><b>CONCLUSION</b>Difference emerged with regard to chin morphology in subjects with different vertical craniofacial skeletal pattern, which deserves to be taken into consideration in orthodontic treatment planning.</p>

Treatment of OSAS with modified twin-block advancement appliances / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To introduce a new modified twin-block advancement appliance and investigate the effects on respiratory variables in patients with OSAS.</p><p><b>METHODS</b>29 patients with OSAS participated in the study and were fitted with modified twin-block appliances to hold the mandible in an anterior and inferior position. Polysomnography was performed with and without appliance insertion. And questionnaires were used for registration of patients subjective symptoms. Pair-t analysis was used to evaluate the effects of appliances in patients with OSAS.</p><p><b>RESULTS</b>26 patients responded to the appliance therapy. Apnea-hypopnea index, apnea index and hypopnea index were reduced significantly (P < 0.01). Lowest arterial oxygen saturation improved significantly (P < 0.01). Discomfort with mandibular advancement disappeared within one week.</p><p><b>CONCLUSIONS</b>Modified twin-block advancement appliance is a conservative, successful treatment alternative that could benefit patients suffered from OSAS.</p>