Clinical and genetic analysis of patients with cherubism.

OBJECTIVE: To describe the clinical and genetic features of patients with cherubism. MATERIAL AND METHODS: A descriptive analysis of 14 cases from nine different families was carried out. Clinicopathological, imaging, and follow-up data were retrieved from patients' medical files and correlated with the genetic profile of each patient. Genomic DNA isolated from buccal mucosa cells was subjected to direct sequencing analysis of the SH3BP2 gene. RESULTS: Females were more affected than males (8:6), and the mean age at diagnosis was 8.6 years (range 3-30 years). Eleven patients exhibited simultaneous bilateral involvement of the maxilla and mandible. Two patients did not have a familial history of cherubism. Progressive growth pattern was found in six patients and stable lesions were observed in other seven patients, whereas in one patient, complete spontaneous remission was documented during the follow-up (31 years). Mutations were found in 13 cases and included the typical heterozygous missense mutations R415Q, P418T, and P418H at exon 9 of SH3BP2. No correlation between the mutations and the clinical manifestations was observed. CONCLUSION: Three different point mutations in the SH3BP2 gene were detected with variable clinical involvement. Genotype-phenotype association studies in larger population with cherubism are necessary to provide important knowledge about molecular mechanisms related to the disease.

Effects of sodium hypochlorite associated with EDTA and etidronate on apical root transportation.

AIM: To evaluate the influence of sodium hypochlorite associated with EDTA and etidronate on apical root transportation. METHODOLOGY: Forty-five roots of human mandibular molars with curvatures of 15-25° were embedded in acrylic resin to allow standardized angulation of the initial and final radiographs. The pre-instrumentation radiographs of the mesiobuccal canal of each root were taken using a radiograph digital sensor with a size 15 K-file in the canal. The canals were prepared with the ProTaper Universal system (Dentsply Maillefer, Ballaigues, Switzerland), using one of the following irrigation regimens during the instrumentation (n = 15): G1 - irrigation with 20 mL of saline solution (control); G2 - alternating irrigation with 2.5% hypochlorite solution (NaOCl) (15 mL); and 17% ethylenediaminetetraacetic acid (EDTA) (5 mL). During instrumentation, the canal was filled with NaOCl and then between each exchange of instrument filled with EDTA for 1 min, and G3 - irrigation with 20 mL of 5% NaOCl and 18% etidronate solution (HEBP) mixed in equal parts. The postinstrumentation radiographs were made with a F3 instrument in the canal. The images were magnified and superposed with Adobe Photoshop software (Adobe Systems, Mountain View, CA, USA). Apical transportation was determined with AutoCAD 2012 software (Autodesk Inc., San Rafael, CA, USA) by measuring the distance in millimetres between the tips of the instruments. The results were subjected to the nonparametric statistical Kruskal-Wallis test (α < 0.05). RESULTS: The median transportation and interquartile range values were 0.00 ± 0.05 for G1, 0.08 ± 0.23 for G2 and 0.13 ± 0.14 for G3. Comparison between groups showed that apical transportation in G3 was significantly greater than in G1 (P < 0.05). CONCLUSION: The use of NaOCl associated with etidronate increased apical transportation in the canals of extracted teeth.

Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings.

OBJECTIVES: A wide variety of manifestations is presented in patients with Gaucher's disease (GD), including bone, haematology and visceral disturbances. This study was conducted to ascertain the main maxillofacial abnormalities by means of clinical survey, panoramic and cone beam CT (CBCT); to compare the patient's group with an age-sex matched control group; and to correlate clinical and radiological data. METHODS: Ten patients previously diagnosed with GD were submitted to clinical and radiological surveys (CBCT and panoramic radiographs). The examination consisted of anamnesis, extra- and intraoral examinations and analyses of each patient's records. Imaging data were collected from the point of view of 3 observers, and the results compared with a healthy group (20 individuals) by means of statistical analysis (Fisher's exact test). RESULTS: Gaucher patients had significantly more manifestations than otherwise healthy carriers. The most prevalent findings were enlarged marrow spaces, generalized osteopenia and effacement of jaw structures (mandibular canal, lamina dura and mental foramen). Here we describe a case in which thickening of the maxillary sinus mucosa was observed on CBCT rather than opacification of the sinus as seen on panoramic radiographs. Pathological fractures, root resorption and delay on tooth eruption were not observed. CONCLUSIONS: A poor relationship could be observed between clinical and radiological data. Patients showed important bone manifestations, which require careful diagnostic and surgical planning whenever necessary. Although panoramic radiographs have shown significant differences, CBCT is more effective in pointing out differences between patients and a control group, thus showing it as an important tool for evaluation of Gaucher patients.

Kartagener syndrome.

Kartagener syndrome (KS), an autosomal recessively inherited disease, is characterized by the triad of situs inversus, bronchiectasis and sinusitis. This disorder affects the activity of proteins important to the movement of cilia, especially in the respiratory tract and the spermatozoa, developing a series of systemic alterations, which can be diagnosed through radiographic examination. The aim of this paper is to describe a clinical case of this unusual pathology, including a brief literature review, emphasising the radiographic aspects of this pathology and stressing the importance of early diagnosis, which could be determined by an oral radiologist.

Fraudulent use of radiographic images.

The aim of this study was to evaluate the ability of trained observers to identify altered radiographic images after modifications using an image-editing software. Based on implantology in 10 radiographs, eight panoramic and one linear tomograph were modified while one tomograph was untouched. Implants were placed or removed and bone levels were altered, and seventy dentists were invited to identify these alterations. The results showed that the percentage of the correct answers was 12.5% or 2 identifications per examiner. The rate of false positives in relation to correct answers was at a level of 6:1. We concluded that the professionals have difficulty in identifying altered radiographs after using an image-editing software and that the seriousness of this situation demands that dentists be warned of the dangers of the use and abuse of this technology.