A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia.
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene is CBFA1/RUNX2, which is mapped to chromosome 6p21. Inactivation of the CBFA1/RUNX2 gene by mutations is involved in the skeletal defects that occur in patients with CCD. CBFA1/RUNX2 controls the differentiation of precursor cells into osteoblasts and is essential for membranous as well as endochondral bone formation. In this study of a 14-yr-old boy with typical CCD phenotype, the authors found a novel CBFA1/RUNX2 gene mutation. All of the amplified segment…
Changes in pharyngeal aerobic microflora in oral breathers after palatal rapid expansion.
Abstract Background The purpose of this study was to investigate in oral breathing children the qualitative and quantitative effects on aerobic and facultatively anaerobic oropharyngeal microflora of respiratory function improved by rapid palatal expansion (RPE). Methods In an open clinical trial, we studied 50 oral breathers, aged 8 to 14 years and suffering from both maxillary constriction and posterior cross-bite. At baseline, patients were examined by a single otorhinolaryngologist (ENT), confirming nasal obstruction in all subjects by posterior rhino-manometric test. Patients were evaluated three times by oropharyngeal swabs:1) at baseline (T = 0); 2) after palatal spreading out (T = 1…
Condylar position indicator and T-scan system II in clinical evaluation of temporomandibular intracapsular disease.
The pathogenesis of temporomandibular joint intracapsular disease (TMJI) is multifactorial and its diagnosis is not easy. In this work authors show two types of clinical analysis: the Condylar Position Indicator (CPI) and T-Scan 2 system.Twenty patients (mean age of 24.5 years) with TMJI problem and 10 healthy matched subjects (mean age: 25.4 years) were selected. Analysis of TMJI was performed on each patient by means of Condylar Position Indicator (CPI) and T-Scan System II tests.Eight patients presented vertical symmetrical condylar distraction greater than healthy subjects (P-value0.001). T-Scan showed a difference of Percentage of Force (POF) not greater than 5%. Seven patients showed …
Orthopedic-orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report.
Aims Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years. Methods and results A careful analysis of anamnestic data was performed. After extraoral and intraoral examination, cephalometric measurements and examination of mod…