Optimizing radiation safety in dentistry: Clinical recommendations and regulatory considerations.

BACKGROUND: The value of dental radiographs to oral health care decision making must be balanced with radiation safety to minimize patient exposure and occupational risk of oral health care providers. This review summarizes recommendations and regulatory guidance regarding dental radiography and cone-beam computed tomography. An expert panel presents recommendations on radiation safety, appropriate imaging practices, and reducing radiation exposure. TYPES OF STUDIES REVIEWED: A systematic search run in Ovid MEDLINE, Embase, and Cochrane Database of Systematic Reviews identified relevant topical systematic reviews, organizational guidelines, and regulatory reviews published in the peer-reviewed literature since 2010. A supplemental search of the gray literature (eg, technical reports, standards, and regulations) identified topical nonindexed publications. Inclusion criteria required relevance to primary oral health care (ie, general or pediatric dentistry). RESULTS: A total of 95 articles, guidance documents, and regulations met the inclusion criteria. Resources were characterized as applicable to all modalities, operator and occupational protection, dose reduction and optimization, and quality assurance and control. PRACTICAL IMPLICATIONS: Understanding factors affecting imaging safety and applying fundamental principles of radiation protection consistent with federal, state, and local requirements are essential for limiting patient ionizing radiation exposure, in conjunction with implementing optimal imaging procedures to support prudent use of dental radiographs and cone-beam computed tomographic imaging. The regulatory guidance and best practice recommendations summarized in this article should be followed by dentists and other oral health care providers.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software. Individual 2 had neurodevelopmental regression and cerebellar atrophy, with no diagnosis on WES. New clinical findings prompted Sanger sequencing and copy number testing of PLA2G6. A novel homozygous deletion of the noncoding exon 1 (not included in the WES capture kit) was detected, with extension into the promoter, confirming the clinical suspicion of infantile neuroaxonal dystrophy. Individual 3 had progressive ataxia, spasticity, and magnetic resonance image changes of vanishing white matter leukoencephalopathy. An NGS leukodystrophy gene panel and WES showed a heterozygous pathogenic variant in EIF2B5; no deletions/duplications were detected. Sanger sequencing of EIF2B5 showed a frameshift indel, probably missed owing to failure of alignment.ConclusionThese cases illustrate potential pitfalls of WES/NGS testing and the importance of phenotype-guided molecular testing in yielding diagnoses.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription factors to specific genomic loci. Germline de novo truncating variants in ASXL1 and ASXL3 have been respectively implicated in causing Bohring-Opitz and Bainbridge-Ropers syndromes, which result in overlapping features of severe intellectual disability and dysmorphic features. ASXL2 has not yet been associated with a human Mendelian disorder. In this study, we performed whole-exome sequencing in six unrelated probands with developmental delay, macrocephaly, and dysmorphic features. All six had de novo truncating variants in ASXL2. A careful review enabled the recognition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities. Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features that distinguish the ASXL2-associated condition from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more variability in the degree of intellectual disabilities. We were also able to demonstrate with mRNA studies that these variants are likely to exert a dominant-negative effect, given that both alleles are expressed in blood and the mutated ASXL2 transcripts escape nonsense-mediated decay. In conclusion, de novo truncating variants in ASXL2 underlie a neurodevelopmental syndrome with a clinically recognizable phenotype. This report expands the germline disorders that are linked to the ASXL genes.

A policy review of after-hours emergency dental care responsibilities.

OBJECTIVES: To examine professional guidelines and/or requirements of state and national dental organizations regarding the responsibility of dentists for after-hours emergency care. METHODS: Guidelines of national dental professional organizations, specialties, and all 50 state dental boards were examined for language pertaining to after-hours emergency care. Guidelines were categorized as: a) no guidelines; b) deferral to American Dental Association (ADA) guidelines; c) specific guidelines outlined. RESULTS: Most states and national guidelines were similar to the ADA: dentists are obliged to make reasonable arrangements for the emergency dental care of patients of-record and not-of-record. Oral surgery maintains the most stringent guidelines of all specialties. Results of the 50 states reviewed: no guidelines-16 states (32 percent), deferral to ADA guidelines-21 states (42 percent), and specific guidelines outlined-13 states (26 percent). CONCLUSIONS: Current after-hours emergency guidelines are nonspecific and open to interpretation. Variability between state guidelines likely contribute to unnecessary hospital emergency visits and increased healthcare costs, undermining the goal of establishing and maintaining dental homes.

Oral health opinions and practices of pediatricians: updated results from a national survey.

BACKGROUND: Professional guidelines and state Medicaid policies encourage pediatricians to provide oral health screening, anticipatory guidance, and fluoride varnish application to young patients. Because oral health activities are becoming more common in medical offices, the objective of this study was to assess pediatricians' attitudes and practices related to oral health and examine changes since 2008. METHODS: As part of the 2012 Periodic Survey of Fellows, a random sample of 1638 members of the American Academy of Pediatrics was surveyed on their participation in oral health promotion activities. Univariate statistics were used to examine pediatricians' attitudes, practices, and barriers related to screening, risk assessment, counseling, and topical fluoride application among patients from birth to 3 years of age. Bivariate statistics were used to examine changes since 2008. RESULTS: Analyses were limited to 402 pediatricians who provided preventive care (51% of all respondents). Most respondents supported providing oral health activities in medical offices, but fewer reported engaging in these activities with most patients. Significantly more respondents agreed they should apply fluoride varnish (2008, 19%; 2012, 41%), but only 7% report doing so with >75% of patients. Although significantly more respondents reported receiving oral health training, limited time, lack of training and billing remain barriers to delivering these services. CONCLUSIONS: Pediatricians continue to have widespread support for, but less direct involvement with oral health activities in clinical practice. Existing methods of training should be examined to identify methods effective at increasing pediatricians' participation in oral health activities.

Perceptions of oral health training and attitudes toward performing oral health screenings among graduating pediatric residents.

BACKGROUND: There is a lack of access to oral health services for American children. Some propose that pediatricians be trained to deliver preventive screening and education to families until they access a dental home. However, little is known about the current oral health training provided during pediatric residency. OBJECTIVE. The purpose of this work was to evaluate the oral health training that pediatricians receive during residency and their attitudes toward performing basic oral health screenings. METHODS: The American Academy of Pediatrics Survey of Graduating Residents is an annual, randomly sampled national survey of graduating pediatric residents. The 2006 Survey of Graduating Residents surveyed 611 residents and examined their perception of their oral health training and their attitudes about performing oral health screenings. RESULTS: Thirty-five percent of residents received no oral health training during residency. Of those who did, 73% had <3 hours of training, and only 14% had clinical observation time with a dentist. Seventy-one percent felt that they had too little oral health training, and only 21% felt that their residency was very good or excellent in preparing them to perform oral health-risk assessments. Residents felt confident in their ability to offer anticipatory guidance but not to do the more technical oral health screenings. The majority of residents believed that pediatricians should conduct basic oral health screenings. Multiple regression analysis indicated that residents who received >or=3 hours of oral health training, who applied for jobs in the inner city, and whose career goal was to work in primary practice are those most likely to support this idea. CONCLUSIONS: Pediatric residents currently receive little training in oral health, and the majority wish for more. This study shows that oral health training during residency can increase pediatrician confidence in participating in important oral health promotion tasks, including anticipatory guidance, oral screenings, and oral health-risk assessment.

Policies and guidelines outside the American Academy of Pediatric Dentistry: influencing oral health care for persons with special health care needs.

Organizations other than the American Academy of Pediatric Dentistry (AAPD) have produced policies and guidelines regarding oral health care for persons with special health care needs (PSHCN). These organizations may be classified as: (1) educational groups; (2) legislative groups; (3) research-oriented groups; (4) industry groups; and (5) parent support groups. The other dental organization heavily advocating for oral health for PSHCN is the Special Care Dentistry Association. Diagnosis-based associations, such as the National Foundation for Ectodermal Dysplasia, also provide caregiver and patient support. Legislative agendas at the state and federal levels are aimed at improving the oral health of PSHCN. The purpose of this paper is to review the policies and guidelines outside AAPD influencing oral health care for PSHCN. AAPD should be aware of these activities and develop such policies in concert with other organizations where feasible.