Microbial changes in subgingival plaque and polymicrobial intracellular flora in buccal cells after fixed orthodontic appliance therapy: a preliminary study.

The oral ecosystem is strictly related to a balance maintained by specific niches recognized as sites, where oral bacteria can metabolize avoiding the immune system response. The oral bacteria species that colonize the ecological niches vary during fixed orthodontic treatment, with a prevalence of periodontal bacterial species. Qualitative analysis of five periodontal pathogens was used to investigate the microbial colonization rate in the crevice and buccal epithelial cells. The presence of inadequate oral hygiene was considered as a modulation variable for microbial colonization. Statistical analysis was performed by Fisher's exact test, ANOVA, and Pearson correlation. A P value lower than 0.05 was assumed as statistically significant. Tannerella forsythia was the only periodontal pathogen detected with a statistically admissible frequency. The positivity for Tannerella forsythia was correlated to sampling time and oral hygiene motivation. In buccal epithelial cells, both factors contributed to microbial decrease (P < 0.05), whereas, in crevice, oral hygiene motivation promoted a decrease in the microbial colonization rate (P < 0.05). According to microbiological findings, it is possible to identify how correct motivation for oral hygiene is more than enough to modulate or to avoid an upset of the oral ecosystem balance in early stages of orthodontic treatment.

HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis.

OBJECTIVES: Celiac disease (CD) is an autoimmune disorder that can be divided into typical and atypical forms. Atypical forms can show extraintestinal manifestations among which oral signs are very frequent. Considering that the pathogenesis of CD is related to a positivity to specific HLA-DQB1 haplotypes, we tested whether the presence of the HLA-DQB1*02 allele could be a hypothetical cause of the development of oral manifestations. SUBJECTS AND METHODS: For this study was been examined the oral condition of 98 Sardinian patients, all affected by CD and all on a gluten-free diet for at least 1 year. Then was been determined each patient's HLA-DQB1 haplotype and compared these results with clinical information. RESULTS: The statistical analysis evidenced that the absence of the HLA-DQB1*02 allele predisposes to oral manifestations such as dental enamel defects (DED) and recurrent aphthous stomatitis (RAS) (Pvalue=5.98x10(-05), OR = 0.23, CI: (0.10 - 0.45) per each copy of the HLA allele). CONCLUSIONS: These results showed that the presence of the HLA-DQB1*02 allele influences the development of oral signs in a dose-dependent manner and also how the HLA haplotype connected to oral signs could have a fundamental role for the diagnosis of atypical forms of CD.

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal.

Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia.

BACKGROUND: The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis. METHODS: To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic. RESULTS: In T1D, aside from the HLA locus, we found four regions showing a lod-score > or =1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score > or =1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5). CONCLUSION: This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.