Outcomes of Oral Health Screenings at Two Different Institutions Serving Individuals with Special Health Care Needs in Massachusetts.

BACKGROUND: As part of the 2009-2010 Massachusetts Dental Society Leadership Institute, two oral health screening and prevention education programs were conducted at institutions in Massachusetts that serve individuals with special health care needs (ISHCN). METHODS: Members of the Leadership Institute class of 2009-2010 built relationships with two institutions that served individuals with ISHCN-one that housed residents with special health care needs and another that served as a day-care facility. Oral health screenings were conducted at both institutions. Retrospective analysis of the data from the two screenings is presented in the current study. RESULTS: Forty-four oral health screenings were conducted at the organization that acted as a daycare/drop-in center for ISHCN who reside in a family home, and 21 screenings were conducted of ISHCN at a residential facility. Among those residing in family homes, 23 percent needed urgent care whereas only 5 percent who were living in an institution needed urgent care. Overall, a total of 40 percent had untreated caries and 48 percent were free of caries based on the oral health screenings. Sixteen percent of subjects were in pain from their mouth at the time of the screenings.

Emergency department visits with facial fractures among children and adolescents: an analysis of profile and predictors of causes of injuries.

PURPOSE: The objectives of this study were to provide nationally representative estimates of hospital-based emergency department (ED) visits for facial fractures in children and adolescents, examine the burden associated with such visits, identify common types of facial fracture, and examine the role of patient-related demographic factors on the causes of facial fractures. MATERIALS AND METHODS: The Nationwide Emergency Department Sample for 2008 to 2010 was used. All ED visits with a diagnosis of facial fractures in those no older than 21 years were selected. Demographic characteristics, types of facial fracture, causes of injuries, and hospital charges were examined. RESULTS: During the study period, 336,124 ED visits were for facial fractures in those no older than 21 years. Late adolescents (18 to 21 yr old) and middle adolescents (15 to 17 yr old) comprised 45.6% and 26.6% of all ED visits, respectively. Male patients comprised 74.7% of ED visits. The most common facial fractures were those of the nasal bones and mandible. Younger children were more likely to have falls, pedal cycle accidents, pedestrian accidents, and transport accidents, whereas older groups were more likely to have firearm injuries, motor vehicle traffic accidents, and assaults (P < .05). Female patients were more likely to have falls, motor vehicle traffic accidents, and transport accidents, whereas male patients were more likely to have firearm injuries, pedal cycle accidents, and assaults (P < .05). Those residing at low annual income household levels were at a high risk for having firearm injuries, motor vehicle traffic accidents, and transport accidents (P < .05). CONCLUSIONS: Late adolescents, middle adolescents, and male patients comprise a significant proportion of these ED visits. Age, gender, and household income levels are significantly associated with the causes of facial fracture injuries.

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

Hypothalamic hamartomas (HH) are rare, benign congenital tumors associated with intractable epilepsy. Most cases are sporadic and nonsyndromic. Approximately 5% of HH cases are associated with Pallister-Hall syndrome (PHS), which is caused by haploinsufficiency of GLI3. We have investigated the possibility that HH pathogenesis in sporadic cases is due to a somatic (tumor-only) mutation in GLI3. We isolated genomic DNA from peripheral blood and surgically resected HH tissue in 55 patients with sporadic HH and intractable epilepsy. A genome-wide screen for loss of heterozygosity (LOH) and chromosomal abnormalities was performed with parallel analysis of blood and HH tissue with Affymetrix 10K SNP microarrays. Additionally, resequencing and fine mapping with SNP genotyping were completed for the GLI3 gene with comparisons between peripheral blood and HH tissue pairs. By analyzing chromosomal copy-number data for paired samples on the Affymetrix 10K array, we identified a somatic chromosomal abnormality on chromosome 7p in one HH tissue sample. Resequencing of GLI3 did not identify causative germline mutations but did identify LOH within the GLI3 gene in the HH tissue samples of three patients. Further genotyping of 28 SNPs within and surrounding GLI3 identified five additional patients exhibiting LOH. Together, these data provide evidence that the development of chromosomal abnormalities within GLI3 is associated with the pathogenesis of HH lesions in sporadic, nonsyndromic patients with HH and intractable epilepsy. Chromosomal abnormalities including the GLI3 locus were seen in 8 of 55 (15%) of the resected HH tissue samples. These somatic mutations appear to be highly variable.

Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy.

The pathogenesis of hypothalamic hamartoma (HH) associated with epilepsy is unknown. We have identified an individual with HH and refractory epilepsy exhibiting subtle dysmorphic features. High-resolution karyotype identified a duplication of the terminal end of 6p (6p25.1-25.3), confirmed by fluorescent in situ-hybridization (FISH). Copy number analysis with high-density (250K) single nucleotide polymorphism (SNP) genotyping microarrays characterized the abnormality as a series of amplified regions between 1.4 Mb and 10.2 Mb, with a small tandem deletion from 8.8 Mb to 9.7 Mb. There are 38 RefSeq genes within the duplicated regions, and no known coding sequences within the deletion. This unique patient helps identify 6p25.1-25.3 as a possible susceptibility locus for sporadic HH.