Clinical and epigenetic determinants of edentulism in type 2 diabetic subjects referring to a tertiary center.

AIMS: Edentulism, extreme consequence of severe periodontitis, carries a high cardiovascular and all-cause death risk. The prevailing phenotype of edentulous patients with type 2 diabetes (T2D) has never been defined, neither it is known whether an epigenetic signature of such condition exists. METHODS: We collected clinical and biochemical data and administered a questionnaire on oral health in 248 consecutive T2D individuals. Vital status was checked after 17 ±â€¯7 months. miRNAs involved in periodontal inflammation were measured. RESULTS: Forty-seven patients (19%) were edentulous (ED), a higher prevalence than in the Italian general population (10.9% from ISTAT data). ED were older, with low level of instruction and higher fasting glucose vs not edentulous (noED). Participants displayed a scarce awareness of the association periodontitis-T2D. ED showed a specific epigenetic signature (lower miR214-5p and higher miR126-5p urinary levels). At the follow-up, metabolic profile similarly improved in ED and noED; death occurrence was similar. CONCLUSIONS: In this cohort of T2D, age is the only variable associated with edentulism; such condition displays an epigenetic signature, independent of the clinical phenotype; awareness of the clinical relevance and implications of periodontitis and edentulism are scarce. However, edentulism does not mark an increased rate of micro-macrovascular complications or mortality.

Phenome-Wide Scan Finds Potential Orofacial Risk Markers for Cancer.

Cancer is a disease caused by a process that drives the transformation of normal cells into malignant cells. The late diagnosis of cancer has a negative impact on the health care system due to high treatment cost and decreased chances of favorable prognosis. Here, we aimed to identify orofacial conditions that can serve as potential risk markers for cancers by performing a phenome-wide scan (PheWAS). From a pool of 6,100 individuals, both genetic and epidemiological data of 1,671 individuals were selected: 350 because they were previously diagnosed with cancer and 1,321 to match to those individuals that had cancer, based on age, sex, and ethnicity serving as a comparison group. Results of this study showed that when analyzing the individuals affected by cancer separately, tooth loss/edentulism is associated with SNPs in AXIN2 (rs11867417 p = 0.02 and rs2240308 p = 0.02), and leukoplakia of oral mucosa is associated with both AXIN2 (rs2240308 p = 0.03) and RHEB (rs2374261 p = 0.03). These phenotypes did not show the same trends in patients that were not diagnosed with cancer, allowing for the conclusion that these phenotypes are unique to cases with higher cancer risk.

[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome]. / Rekurrens európai misszensz mutáció egy magyar Papillon-Lefèvre szindrómában szenvedo családban.

Papillon-Lefèvre syndrome, a rare disease with autosomal recessive inheritance, is characterized by aggressive periodontitis and palmoplantar hyperkeratosis. Mutations of the cathepsin C gene are responsible for the development of the disease. In this study, we aimed to describe in details the clinical symptoms and to determine the underlying genetic abnormality in two Hungarian siblings affected by Papillon-Lefèvre syndrome. The siblings are under regular dental and dermatological care since their symptoms appeared, but, due to the fact that genetic analysis of Papillon-Lefèvre syndrome has been available for one or two years in Hungary, their mutation screenings were just recently performed. We have identified a homozygous missense mutation on the cathepsin C gene, which is an already published mutation and was originally reported from Germany. Our investigations would like to draw attention to a rare disease, Papillon-Lefèvre syndrome, in which first symptom can be the aggressive periodontitis, and in which genetic testing and for helping child-bearing and family planning is now available.

Molecular analysis of oral bacteria in dental biofilm and atherosclerotic plaques of patients with vascular disease.

BACKGROUND: Oral bacteria have been detected in atherosclerotic plaques at a variable frequency; however, the connection between oral health and vascular and oral bacterial profiles of patients with vascular disease is not clearly established. The aim of this study was to evaluate the presence of oral bacterial DNA in the mouth and atherosclerotic plaques, in addition to assessing the patients' caries and periodontal disease history. METHODS: Thirty samples of supragingival and subgingival plaque, saliva and atherosclerotic plaques of 13 patients with carotid stenosis or aortic aneurysm were evaluated, through real-time polymerase chain reaction, for the presence of Streptococcus mutans (SM), Prevotella intermedia (PI), Porphyromonas gingivalis (PG) and Treponema denticola (TD). All patients were submitted to oral examination using the DMFT (decayed, missing and filled teeth) and PSR (Periodontal Screening and Recording) indexes. Histopathological analysis of the atherosclerotic plaques was performed. RESULTS: Most of the patients were edentulous (76.9%). SM, PI, PG and TD were detected in 100.0%, 92.0%, 15.3% and 30.7% of the oral samples, respectively. SM was the most prevalent targeted bacteria in atherosclerotic plaques, detected in 100% of the samples, followed by PI (7.1%). The vascular samples were negative for PG and TD. There was a statistically significant difference (p<0.05) between the presence of PG and TD in the oral cavity and vascular samples. CONCLUSION: SM was found at a high frequency in oral and vascular samples, even in edentulous patients, and its presence in atherosclerotic plaques suggests the possible involvement of this bacterium in the disease progression.

Overlap syndrome: a diagnostic dilemma.

We report an interesting case of a young patient who came with a concern for missing teeth and lack of hair on scalp and body. Examination revealed complete absence of teeth, absence of eyebrows, eyelashes and hair over scalp. He was short-statured, had hyperextensible joints and hyperelastic skin, protuberant lips and many other anomalies such that the overall pattern of defects was not recognisable. A wide array of investigations involving the dental and medical faculties were done; however, the final diagnosis could not be reached, since it appeared to involve features of more than one syndrome, thus the name 'overlap syndrome'.

Difference in apolipoprotein E type 4 allele (APOE epsilon 4) among dentate and edentulous subjects.

OBJECTIVES: To evaluate the frequency of apolipoprotein (APOE) alleles and determine whether APOE type 4 allele (epsilon 4) was associated with edentulousness even when certain factors were controlled. BACKGROUND: The APOE are important in lipid homeostasis, and APOE epsilon 4 has been found in many diseases and to have a negative impact on longevity. Tooth loss is more common in ill aged subjects with low income and education. MATERIALS AND METHODS: In a population-based study involving 1860 subjects between 35 and 85 years 1321 dentate (mean age = 54; 54% women, 46% men) and 539 edentulous (mean age = 72; 62% women, 38% men) subjects were studied. Logistic regression was performed with dentate/edentulous as dependent variables and years of education, socio-economic status, social network, stress level, handicap from birth, 23 various diseases and APOE epsilon 4 as covariates. Thereafter, APOE epsilon 4 frequencies were studied in 342 dentate and 336 edentulous subjects 50-85 years of age. The subjects were matched with regard to age, gender, years of education, living condition, stress level, handicap from birth and 23 various diseases. RESULTS: APOE allele frequency in the total group was epsilon 2 = 7.8%, epsilon 3 = 76.4% and epsilon 4 = 15.8%. Age, living condition, years of education and APOE epsilon 4 were significant covariates in edentulous subjects (p

Environmental and heritable factors in the etiology of oral diseases--a population-based study of Swedish twins.

A population-based twin study is a useful design for quantification of the effects of genes and environmental factors in disease etiology. We used data from 10,000 Swedish twin pairs to quantify genetic and environmental contributions to tooth loss and periodontal health. Oral health information was obtained from telephone interviews. Structural equation models measured the relative importance of genetic and environmental factors. Genetic factors contributed to 14% of variation in tooth loss among women, and 39% among men. Non-shared environmental factors accounted for one-quarter of risk; environmental factors shared by twins comprised the remainder. Heritability estimates of periodontal disease were 39% and 33% for women and men, respectively, while non-shared environmental factors accounted for the remaining variation. Heritability for both conditions varied as a function of age and smoking status. Analysis of data from this large, population-based study demonstrates a moderate role of genetic factors in oral diseases, and suggests potential gene-environment interactions.

[Juvenile periodontopathies as a manifestation of an ectodermal abnormality]. / Juvenile Periodontopathien als Manifestation einer ektodermalen Fehlbildung.

By means of three cases of progressive infantile periodontal diseases the author points at simultaneous alteration in the keratinization of the skin in the sense of keratosis palmaris et plantaris (Papillon-Lefèvre-Disease). This complex of anomalies is supposed to be a hereditary acro-ectodermal systemic inferiority, primarily consisting in an epithelial disturbance. But it is also necessary to regard the infantile progressive periodontal insufficiency as an obligatory or facultative attendant symptom of general diseases. The therapy is only symptomatic, complete return to health is not realizable.

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.

GAPO syndrome: report of three affected brothers.

We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.