Background Oculo-pharyngeal muscular dystrophy (OPMD) is a rare disease, caused by trinucleotide repeat expansion in the PABPN1 gene, inherited in an autosomal dominant (AD) manner. Its main features are eyelid ptosis and dysphagia, which manifest at the end of the fifth decade of life. Other symptoms include proximal muscle weakness and bulbar muscle weakness. Although OPMD is prevalent worldwide, a higher prevalence has been reported in the Jewish population from Bukhara. Currently, no specific drugs are available for OPMD. Objective Our National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD) study aims to provide a framework for the assessment and documentation of the natural history of the diseases as we as a multi-disciplinary management of patients with OPMD. The IsrO-PMD may be the cornerstone of future clinical trials for novel therapies for OPMD. Methods The IsrO-PMD is a national prospective registry that involves non-interventional data collection based on the Global Rare Diseases Patient Registry (GRDPR) and data repository standard. Inclusion criteria are clinical diagnosis of OPMD and positive genetic testing. Patients who meet inclusion criteria will be examined using a series of multi-disciplinary investigations and questionnaires including periodic follow-up examinations. Specific attention is given to comprehensive neurological, swallowing, and ophthalmological evaluations. Discussion The establishment of this national registry will enhance our understanding of the natural history of OPMD, establish quality care benchmarks, and develop treatment strategies in addressing the multi-system pathophysiology of the disease and associated comorbidities. Our registry provides a foundation for the use of new cutting-edge treatments as they become available.

BACKGROUND AND OVERVIEW:Cone-beam computerized tomographic (CBCT) imaging is increasingly used in the maxillofacial region for various purposes. The volumetric dataset created by means of CBCT increases the possibility of detecting incidental findings.CASE DESCRIPTION:In this case report, the authors describe an otherwise healthy 45-year-old man who was referred from the Sjogren's Syndrome Center in Jerusalem, Israel, for bilateral parotid CBCT sialographic imaging owing to xerostomia lasting for 4 months. CBCT sialographic imaging using iodine contrast material showed normal glandular structure and activity according to the postcannulation panoramic imaging. CBCT sialographic imaging routine volume interpretation revealed a lesion in the mandibular area causing destruction and perforation of the cortical plates, partial disappearance of adjacent lamina dura, and resorption of adjacent teeth, suggesting an aggressive benign tumor. Histopathologic examination confirmed mural cystic ameloblastoma, which was resected with preservation of the mental nerve and the lower mandibular border. The patient received bone graft and implants, with regular follow-ups and no recurrence after 4 years.CONCLUSIONS AND PRACTICAL IMPLICATIONS:This case strengthens the need for thorough examination of the whole CBCT imaging volume within and outside the region of interest to detect incidental findings with clinical importance.

OBJECTIVE:Sjogren's syndrome (SjS) causes salivary gland impairment leading to oral dryness. Parotid sialo-cone-beam computerized tomography (sialo-CBCT) demonstrates ductal architecture and to a lesser extent gland activity. This study characterizes radiographic features of patients suspected for SjS and looks for a possible correlation with the diagnosis of SjS.METHODS:The clinical and radiographic data of suspected SjS/dry mouth patients referred for sialo-CBCT in 2011-2014 were reviewed retrospectively. Two observers studied the scans for various radiographic features including duct morphology, level of branching, ductopenia and sialectasia. These features were analysed taking the specific clinical data and two sets of SjS criteria: The 2002 American-European Consensus Group (AECG) and the 2012 American College of Rheumatology (ACR) Group.RESULTS:Sialo-CBCT scans of 67-referred patients suffering from dry mouth (115 parotid glands) were included. Intraradiographic association was found between ductopenia and all other radiographic parameters. Minimal, yet important, radiographic differences were found between left and right parotid glands. AECG-confirmed-SjS patients showed strong correlation with radiographic features, whereas ACR 2012-confirmed-SjS patients did not.CONCLUSION:Sialo-CBCT demonstrates novel radiographic features which may clarify the diagnosis of SjS. Further studies are needed to determine the role of sialo-CBCT in diagnosis of SjS.

OBJECTIVE:The present study aimed to determine if the prevalence of pre-eruptive intracoronal radiolucent defects is higher for young age groups, in which there are more unerupted teeth.STUDY DESIGN:A retrospective study of panoramic and bitewing radiographs was conducted. An inclusion criterion was the presence of un-erupted permanent teeth with a formed and clearly visible crown. Age groups were: young (6-8 years), intermediate (9-12 years) and adults (13-53 years). Significance level was set at p≤0.05.RESULTS:Thirteen (3.9%) pre-eruptive lesions were detected in 335 records. No lesions were found in the young group (7.4%), in the intermediate and adult age groups six and seven lesions were found, respectively. In most cases the pre-eruptive lesion was found in a third molar.CONCLUSION:The prevalence of pre-eruptive intracoronal lesions was not higher for young age groups. The prevalence of pre-eruptive intra coronal radiolucent lesions is 3.9%, irrespective of age.

The aims of this article are to introduce mandibular condylar pseudocysts to orthodontists, present 2 relevant case reports, and discuss possible differential diagnoses. Condylar pseudocyst is a radiologic variant of pterygoid fovea, which is the site of insertion of the lateral pterygoid muscle to the head of the mandibular condyle. A pathognomonic picture of a solitary well-defined radiolucency with radiopaque borders, located on the anterior aspect of the condyle in an asymptomatic orthodontic patient, is characteristic.

The aim of this study was to correlate clinical and computerized tomography (CT) features of bisphosphonate-related osteonecrosis of the jaws (BRONJ). All ONJ patients for whom there was complete CT scan imaging were eligible. Selected clinical parameters retrieved from their medical records were analyzed for correlation with CT parameters. The clinical presentation of BRONJ was supported by findings in CT imaging in 78.3%. The lesion's size on CT correlated with the presence of purulent secretion (p = 0.03). When sequestrum was present, the median lesion's size on CT was relatively big (28 mm, range 21-43 mm). The mandibular canal cortex was never breached. CT has reasonable detection competence for diagnosing BRONJ. Purulent secretion indicates the likelihood that a more extensive involvement will be displayed on CT. A large lesion on CT should raise the index of suspicion for sequestrum. The CT appearance of a continuous cortex of the mandibular canal may serve as a differential parameter between BRONJ and metastasis to the jaw.