Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene.

Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a disrupted magnesium transport is involved in the development of the dental abnormalities observed in Jalili syndrome.

Tipo e freqüência de alterações dentárias e periodontais em cães na região de Jaboticabal, SP

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Achados clínicos de afecções orais em bugios ruivos (Alouatta guariba clamitans) (Cabrera, 1940)

Pós-graduação em Medicina Veterinária - FMVZ

Management of children with autism spectrum disorder in the dental setting: concerns, behavioural approaches and recommendations

OBJECTIVES This article reviews the present literature on the issues encountered while coping with children with autistic spectrum disorder from the dental perspective. The autistic patient profile and external factors affecting the oral health status of this patient population are discussed upon the existing body of evidence. MATERIAL AND METHODS The MEDLINE database was searched using the terms 'Autistic Disorder', 'Behaviour Control/methods', 'Child', 'Dental care for disabled', 'Education', 'Oral Health', and 'Pediatric Dentistry' to locate related articles published up to January 2013. RESULTS Most of the relevant studies indicate poor oral hygiene whereas they are inconclusive regarding the caries incidence in autistic individuals. Undergraduate dental education appears to determine the competence of dental professionals to treat developmentally disabled children and account partly for compromised access to dental care. Dental management of an autistic child requires in-depth understanding of the background of the autism and available behavioural guidance theories. The dental professional should be flexible to modify the treatment approach according to the individual patient needs.

Predicting Successful Dental Examination for Children with Autism Spectrum Disorder

Thesis (Master's)--University of Washington, 2016-06

Segmental LeFort I osteotomy for treatment of a class III malocclusion with temporomandibular disorder

This article reports the case of a 19-year-old young man with Class III malocclusion and posterior crossbite with concerns about temporomandibular disorder (TMD), esthetics and functional problems. Surgical-orthodontic treatment was carried out by decompensation of the mandibular incisors and segmentation of the maxilla in 4 pieces, which allowed expansion and advancement. Remission of the signs and symptoms occurred after surgical-orthodontic intervention. The maxillary dental arch presented normal transverse dimension. Satisfactory static and functional occlusion and esthetic results were achieved and remained stable. Three years after the surgical-orthodontic treatment, no TMD sign or symptom was observed and the occlusal results had not changed. When vertical or horizontal movements of the maxilla in the presence of moderate maxillary constriction are necessary, segmental LeFort I osteotomy can be an important part of treatment planning.

Dental Evaluation of Kabuki Syndrome Patients

Kabuki syndrome is a genetic disorder of unknown etiology characterized by mental retardation, growth deficiency, and peculiar face (i.e., long palpebral fissures, eversion of the lateral third of the lower eyelids, prominent ears, and broad and depressed nasal tip). Oral manifestations commonly observed in Kabuki syndrome may comprise cleft lip/palate, bifid tongue and uvula, malocclusion, and dental abnormalities. We evaluated the dental findings of eight patients with Kabuki syndrome. One presented cleft palate; three presented caries; and seven had missing teeth, with the upper lateral incisors and inferior central incisors being the most commonly absent. All missing teeth were permanent, and there was no alteration of dental chronology or morphology. Because most patients had mixed dentition, the presence or absence of primary teeth was assessed through the parents` reports. One patient presented an absent upper canine, which had not been reported previously in the literature. Dental findings may be helpful for clinical diagnosis, or they may be an additional finding to substantiate the diagnosis of Kabuki syndrome in children with mild phenotype.

Orofacial Myofunctional Disorder In Subjects with Temporomandibular Disorder

To determine the frequency and degree of orofacial myofunctional disorder (OMD) in a sample of patients with temporomandibular disorder (TMD), the dental records of 240 patients with a diagnosis of TMD were reviewed. Mean patient age and mean TMD duration, gender frequency, complaints, and signs and symptoms were calculated. The results showed that the sample studied was quite characteristic of a TMD group. The presence of the following signs/symptoms was significant: muscular pain, TMJ pain, joint noise, at least one otologic symptom, headache, and neck and shoulder pain. Most subjects presented some degree of OMD, with grade high prevailing over grade low. The importance of evaluating the stomatognathic structures and functions during the clinical examination of patients with TMD is emphasized.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

Dental Implants in Patients With Osteoporosis: A Clinical Reality?

Osteoporosis is a systemic disorder characterized by generalized decrease in bone mineral density. Dental implantology is a specialty with high predictability when both quantity and quality of the bone are respected. Therefore, the diagnosis and the implant treatment in patients with osteoporosis are important. In the current study, a literature review about osteoporosis and dental implant therapy was conducted. PubMed, Cochrane, ISI, Dentistry Oral Science, SciELO, and Bireme databases were consulted over the last 20 years. English- and Portuguese-language articles were included in this revision. Some authors stated that the osteoporotic bone is similar to the proposed model of bone type IV. Randomized clinical studies reported implant failure in patients with osteoporosis after menopause. Studies that contraindicate the use of implants in patients with osteoporosis infer that the impaired bone metabolism led to reduction of bone healing around the implants. Nevertheless, other authors believe that the presence of osteoporosis is not a definitive condition to contraindicate the therapy with dental implants. In these cases, the dentist should perform a proper treatment planning, modifying the implant geometry, and use larger implant diameter and with surface treatment. Thus, osteoporosis is not a contraindication for implant surgery because an accurate analysis of bone quality by means tomography is performed.

Effects of hemostatic agents on the histomorphologic response of human dental pulp capped with calcium hydroxide

Objective: To evaluate the response of human pulps capped with a calcium hydroxide [Ca(OH)2] cement after bleeding control with 2 hemostatic agents. Method and Materials: Pulps were exposed on the occlusal floor, and the bleeding was controlled either with saline solution (SS) or 2.5% sodium hypochlorite (NaOCI) (SH). After that, the pulp was capped with Ca(OH) 2 cement and restored with resin composite. After 30 (groups SS30 and SH30) and 60 (groups SS60 and SH60) days, the teeth were extracted and processed with hematoxylin-eosin and categorized in a histologic score system. The data were subjected to Kruskal-Wallis and Mann-Whitney tests (α = .05). Results: Regarding dentin bridge formation, an inferior response of SH60 group was observed when compared to SS60 (P < .05). The response of the SH30 group generally was similar to that of the groups treated with saline solution. However, after 60 days, 2.5% NaOCl showed a trend toward having an inferior response. Conclusion: Using saline solution as a hemostatic agent before pulp capping with Ca(OH)2 resulted in a significantly better histomorphologic response than using 2.5% NaOCl as a hemostatic agent before capping with Ca(OH)2.

Dentinogenesis imperfecta type II: approach for dental treatment

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Maxillo-mandibular counter-clockwise rotation and mandibular advancement with TMJ Concepts (R) total joint prostheses Part I - Skeletal and dental stability

The purpose of this study was to evaluate skeletal and dental stability in patients who had temporomandibular joint (TMJ) reconstruction and mandibular counterclockwise advancement using TMJ Concepts total join, prostheses (TMJ Concepts Inc. Ventura, CA) with maxillary osteotomies being performed at the same operation. All patients were operated at Baylor University Medical Center, Dallas TX, USA, by one surgeon (Wolford). Forty-seven females were studied; the average post-surgical follow-up was 40.6 months. Lateral cephalograms were analyzed to estimate surgical and post-surgical changes. During surgery, the occlusal plane angle decreased 14.9 +/- 8.0 degrees. The maxilla moved forward and upward. The posterior nasal spine moved downward and forward. The mandible advanced 7.9 +/- 3.5 mm at the lower incisor tips, 12.4 +/- 5.4 mm at Point B, 17.3 +/- 7.0 mm at menton, 18.4 +/- 8.5 mm at pogonion, and 11.0 +/- 5.3 mm at gonion. Vertically, the lower incisors moved upward -2.9 +/- 4.0 mm. At the longest follow-up post surgery, the maxilla showed minor horizontal changes while all mandibular measurements remained stable. TMJ reconstruction and mandibular advancement with TMJ Concepts total joint prosthesis in conjunction with maxillary osteotomies for counter-clockwise rotation of the rnaxillo-mandibular complex was a stable procedure for these patients at the longest follow-up.