Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients. RESULTS: The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease. CONCLUSIONS: This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.

Assessment of genotyping tools applied in genetic susceptibility studies of periodontal disease: A systematic review.

OBJECTIVE: A systematic review to evaluate the various genotyping tools and study strategies employed to define genetic susceptibility to periodontitis. METHODS: The review was performed in accordance with Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines. The search for publications referring to the genetic bases of periodontal disease was performed on the MEDLINE-PubMed and Cochrane Library databases, on trials registers, and on the web pages of regulatory agencies. RESULTS: We found 2439 potentially eligible articles, of which only 25 satisfied the established inclusion criteria and were processed for data extraction. The review revealed marked heterogeneity between studies, caused in part by the lack of a universally accepted definition for periodontitis phenotypes and by the variety of genotyping tools available. The most commonly used technique was genotyping candidate genes. CONCLUSION: The few rigorous studies that have been published on genetic susceptibility to periodontitis are subject to severe methodological bias due to their design and the genotyping tools employed. Despite their limitations, candidate gene studies continue to be the predominant methodological approach, rather than genome-wide association studies. Further studies must be designed using a universally accepted, validated diagnostic criterion for periodontitis, analysing multiple genes and polymorphisms in combination with rare variants.

The Impact of Research on the Future of Dental Education: How Research and Innovation Shape Dental Education and the Dental Profession.

Scientific inquiry and discovery are the fuel for education, research, technology, and health care in all the health professions: dentistry, medicine, nursing, pharmacy, and allied health sciences. The progression of discoveries from basic or fundamental to clinical research is followed by the progression from clinical to implementation and improved health outcomes and processes. Generally, implementation science is the scientific study of methods to promote the systematic uptake of research findings (e.g., basic, translational, behavioral, socioeconomic, and clinical) as well as other related evidence-based practices into standards of care, thereby improving the quality, effectiveness, and cost benefits of health care services. There is little doubt that science has and will continue to provide the essential fuel for innovations that lead to new and improved technologies for risk assessment, prevention, diagnosis, treatments and therapeutics, and implementation for addressing oral and craniofacial diseases and disorders. The history of the U.S. dental profession reviewed in this article gives testimony to the continued need for investments in scientific inquiry that accelerate progress in comprehensive health care for all people. This article was written as part of the project "Advancing Dental Education in the 21st Century."

Assessment of CASP gene polymorphisms in periodontal disease.

Caspases (CASP) are intracellular proteases that play roles as mediators of apoptosis. Activation of caspase 3 is enhanced in chronic periodontitis. Thus, we hypothesized that single nucleotide polymorphisms (SNPs) of CASP genes might be associated with this condition in the Korean population. To investigate whether such polymorphisms might be involved in the development of periodontal disease, 51 patients and 33 control subjects were assessed. A total of 201 CASP gene SNPs were analyzed with genotypes being determined using and Axiom(TM) genome-wide human assay. SNPStats and SPSS 18.0 were used for the analysis of genetic data and logistic regression models were utilized to evaluate odds ratios, 95% confidence intervals, and P values. Of the 201 SNPs, only three (rs12108497, rs4647602, and rs113420705, all in the CASP3 gene) were significantly associated with chronic periodontitis (P < 0.05). The minor allele frequencies of these SNPs were higher in the patient group than in the control group. In addition, the TC and GT haplotypes formed by rs4647602 and rs113420705 were found to be associated with chronic this disease (TC haplotype, P = 0.0039; GT haplotype, P = 0.002). These results suggest that CASP3 gene polymorphisms may be associated with susceptibility to periodontal disease in the Korean population.

Assessment of the oral health status of monozygotic and dizygotic twins - a comparative study.

PURPOSE: To assess the oral health status and concordance between monozygotic and dizygotic twin pairs. MATERIALS AND METHODS: After obtaining prior consent, a cross-sectional descriptive study was conducted among 9 monozygotic and 21 dizygotic twin pairs who were reared together. Perception towards oral health practices was assessed using a pre-tested questionnaire. The WHO oral health assessment form (1997) was employed to assess the oral health status. Zygosity determination was determined using the medical records, dermatoglyphics and details about chorionicity and number of placental cords. Pearson's correlation was calculated to determine the correlation among the monozygotic and dizygotic twin pairs. RESULTS: The monozygotic twin pairs showed a greater correlation compared to the dizygotic twin pairs in dental caries, periodontal disease and malocclusion. CONCLUSION: In the present study, monozygotic twin pairs showed a higher correlation rate than the dizygotic twin pairs, suggesting considerable evidence that genes play a significant role in the aetiology of dental caries, periodontal disease and malocclusion.

Susceptibility and risk factors in periodontal disease.

Epidemiological studies demonstrate a high prevalence of advanced destruction but also that relatively few individuals in each age group account for most of the advanced periodontal disease. The available data suggest that three quarters of advanced periodontal disease could be prevented by targeting an effective preventive strategy on the 28% of individuals especially at risk. Questions remain regarding: 1) whether an acceptable cost-effective preventive strategy can be devised; and 2) whether it is possible to establish a simple method of identifying the 'at risk' group. The various risk factors are numerous and include systemic diseases, smoking, drug therapy, hormonal disturbances and genetic factors as well as the more mundane factors such as plaque control and socio-economic and education and attitude factors. Aside from these factors, many patients present with periodontal disease and have no discernible predisposition other than possibly genetic, for which we can not currently test, and for the vast majority of patients there would appear to be no other alternative to periodic thorough examination for all patients, early treatment of all periodontal lesions and appropriate dental health education.

Using risk assessment to customize periodontal treatment.

In recent years, understanding of the multifactorial nature of periodontal disease has taken great strides. Periodontal disease is initiated and sustained by the presence of bacteria, but disease progression is significantly modified by the body's response to the bacteria. This article highlights the emerging evidence regarding which risk factors are predominant in influencing the disease process and how the incorporation of prognostic risk factors in overall diagnosis can help facilitate treatment planning. These factors appear to be smoking, genetic susceptibility, compliance, and diabetes. The first three factors mentioned are the focus of this article. Each is discussed with regard to their role in amplifying the disease process and how this information can be used in clinical practice. By acknowledging the importance of these factors, dentists can consider their patients' risk to allow for more cost-effective planning and treatment. The opportunity to identify high-risk patients and treat them more proactively is significant; the challenge rests with dentists' willingness and ability to embrace the change before them.

Evidence for genetic control of changes in f-actin polymerization caused by pathogenic microorganisms: in vitro assessment using gingival fibroblasts from human twins.

Attachment to and migration upon a substratum, as well as other functions of connective tissue cells, are regulated mainly by cytoplasmic structural proteins, particularly filamentous actin (f-actin). Pathogenic microorganisms exert negative effects on cytoskeletal proteins. In the present study, normal gingival fibroblasts from 10 sets of human twins (6 fraternal, DZ; 4 identical, MZ) were exposed to soluble extracts from Porphyromonas gingivalis or Fusobacterium nucleatum, then f-actin was stained using FITC-labeled phalloidin. Cells were examined under fluorescence, and a computer-assisted image analyzer quantitated f-actin polymerization as fluorescence intensity on a per-cell basis. Intraclass correlation coefficients for f-actin in MZ/MZ vis-a-vis DZ/DZ paired cell cultures were determined to assess the possible heritability of responses to the microorganism preparations. F-actin labeling was significantly different between control cultures and those exposed to the extracts. Both F. nucleatum and P. gingivalis effected f-actin and fibroblast morphology. When the data were adjusted for gender and age effects, and for differences in control f-actin levels, fibroblasts from MZ twin pairs were moderately similar in both absolute and relative responses to bacterial challenges; cells from DZ twins showed little similarity when response was measured on the absolute scale, and moderate similarity using the relative scale.

Prevalence of periodontal disease in a health maintenance organization and comparisons to the national survey of oral health.

The purposes of this study were to: 1) characterize the demographics, oral health behavior, and periodontal status of a health maintenance organization sample; 2) investigate the relationship between the location of posterior proximal measurement sites and prevalence estimates for periodontal disease; and 3) compare the prevalence of persons with pockets > or = 4 mm in the present sample to the 1985 NIDR Survey of Oral Health. The sample consisted of 1,090 adults attending a large health maintenance organization. All proximal sites in one randomly selected posterior dental sextant were examined for probing depth using a constant force probe. Demographic, medical, and behavioral factors were determined by questionnaire. Results indicated that the sample consisted primarily of medically and periodontally-healthy middle-aged adults with good oral hygiene habits. Overall, the mean probing depth was 2.95 mm with 10.1% of sites/subject > or = 4 mm. A larger percent of subjects had probing depths with pockets > or = 4 mm at lingual proximal sites than buccal proximal sites. Prevalence of subjects with pockets > or = 4 mm at mesio-buccal sites in the present study was similar to NIDR Region III data (15.3% vs. 17.4% respectively). However, when data from all posterior sites were included, the overall prevalence rate in the present sample increased to 36.8%. These findings indicate that disease prevalence is dependent on the location of surfaces measured and conservatively indicate that NIDR survey data may have underestimated the prevalence of persons with periodontal pockets > or = 4 mm by at least 20%.

Dental health of children in an integrated urban development programme for destitute mothers with twins in Addis Ababa.

The Ethiopian Gemini Trust in Addis Ababa is a charitable organisation which cares for mothers who have delivered twins or triplets. A dental preventive programme for the disadvantaged children in the Trust was begun and this paper describes the first objective of the programme, the determination of the levels of dental disease. Caries, periodontal disease, malocclusion and enamel opacities were recorded.

PIP: Twin births are associated with pre-term delivery and low birth weight. In poor populations, these factors can seriously threaten child survival. The Ethiopian Gemini Trust was therefore established in 1983 as a charitable organization to care for mothers who have delivered twins or triplets. Given the scarcity of dental services in Ethiopia, the Trust added a dental preventive component for disadvantaged children to its services. This paper describes findings from the program's 1st objective of determining levels of dental disease in the population. 976 children and youths aged 6 months to 17.9 years were examined. 367 of this sample were aged 3-6 years. The prevalence of caries was generally low and within global goals set by the World Health Organization for the year 2000. The level of caries was greatest among 3-6 year olds exposed to an intensive feeding program in which their normal diets were supplemented with a sweetened commercial mix and sweet digestive biscuits. Only 27% of 6-9 year olds and 20% of 12-18 year olds had no periodontal problems. The study also found a generally low prevalence of enamel opacities. These findings point to the direct negative effects of poor dental hygiene and the indirect negative effects of the feeding program.