Long-term (≥15 years) post-treatment changes and outcome quality after Class II:1 treatment in comparison to untreated Class I controls.

Aim: To investigate the long-term (≥15 years) post-treatment (Tx) occlusal changes and outcome quality after Class II:1 Tx. Subjects and Methods: Herbst-MBA Tx had been performed at age 12.8 ± 2.7 years in 119 patients. A recall was conducted and study models from before and after active Tx, after retention as well as after recall were evaluated using standard occlusal variables and the PAR index. These data were compared to 31 untreated Class I controls. Results: 52 out of 119 patients could be located and participated at 33.6 ± 3.1 years. Compared to the 67 patients who did not participate in the recall, the pre- and post-Tx occlusal data of the participants did not differ systematically; however, the PAR scores were higher by 3.0-4.7 points at all times. Pre-Tx, the mean values of the 52 participants were: PAR = 27.2 ± 7.6, Class II molar relationship (MR) = 0.7 cusp widths (cw), overjet = 8.2 mm, overbite = 4.1 mm. After Tx, the PAR score was 3.4 ± 2.2. A Class I MR (0.0 ± 0.1 cw) with normal overjet (2.3 ± 0.7 mm) and overbite (1.3 ± 0.7 mm) existed. At recall, a mild PAR score increase to 8.2 ± 5.5 points had occurred; this was mainly due to increased overjet and overbite values (3.6 ± 1.1 and 2.8 ± 1.6 mm) while the MR was stable (0.0 ± 0.2 cw). For all these variables, similar findings were made in the untreated controls. Conclusion: The occlusal outcome of Class II:1 Tx showed very good long-term stability. While mild changes occur post-Tx, the long-term result is similar to untreated Class I controls.

Outcome quality and long-term (≥15 years) stability after Class II:2 Herbst-multibracket appliance treatment in comparison to untreated Class I controls.

Aim: To investigate the outcome quality and the long-term (≥15 years) post-treatment (Tx) changes after Class II:2 Herbst-multibracket appliance (MBA) Tx. Subjects and Methods: In this longitudinal observational study, a recall of Class II:2 patients who had been treated by a Herbst-MBA during adolescence was conducted. Study models from before and after active Tx, after retention and after recall were assessed using standard occlusal variables and the peer assessment rating index (PAR). These data were compared to historical untreated Class I controls. Results: Twenty out of 33 patients (61%) could be located and participated at age 33.9 ± 2.7 years. When comparing their data to the 13 patients who did not participate, the pre- and post-Tx occlusal findings did not differ systematically; however, the PAR scores of the non-participants were by 3.3-8.2 points higher at all times and the non-participants were 2.1-2.5 years older. Pre-Tx at age 14.4 ± 2.7 years, the participants showed the following mean values: PAR = 15.0 ± 7.0, Class II molar relationship (MR) = 0.8 ± 0.3 cusp widths (cw), overbite = 5.3 ± 1.3 mm. After Tx, a PAR score of 2.9 ± 1.3 and a super Class I MR (-0.1 ± 0.1 cw) with normal overbite (1.2 ± 0.8 mm) existed. At recall, a PAR score increase to 5.9 ± 3.6 points had occurred, mainly caused by an increase of overbite to 2.5 ± 1.5 mm. The average MR remained Class I (0.0 ± 0.2 cw). For all variables, the untreated controls exhibited similar findings. Conclusion: The occlusal outcome of Class II:2 Herbst-MBA Tx exhibited very good long-term stability. While mild post-Tx changes occurred, the long-term findings are similar to untreated Class I controls.

IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.

Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P). A recent study has suggested that the functionally relevant variant rs642961 is the underlying cause of the observed associations. We genotyped rs642961 in our Central European case-control sample of 460 NSCL/P patients and 952 controls. In order to investigate whether other IRF6 variants contribute independently to the etiology of NSCL/P, we also genotyped the non-synonymous coding variant V274I (rs2235371) and five IRF6-haplotype tagging single nucleotide polymorphisms (SNPs). A highly significant result was observed for rs642961 (P = 1.44 x 10(-6)) in our sample. The odds ratio was 1.75 [95% confidence interval (CI): 1.38-2.22] for the heterozygous genotype and 1.94 (95% CI: 1.21-3.10) for the homozygous genotype, values that are similar to those reported in a previously published family-based study. Our results thus confirm the involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population. We also found evidence suggestive of an independent protective effect of the coding variant V274I. In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP-based and resequencing studies using large samples of patients.

TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate.

Mice with a deletion of Tgf-beta3 (-/-) and association studies in humans of different ethnicities support the involvement of TGFB3 in the etiology of orofacial clefts. In this study, we investigated the relevance of TGFB3 in the development of cleft lip and palate (CL/P) among 204 triads of central European origin. Transmission-disequilibrium test (TDT) analysis revealed no significant transmission distortions for each marker alone, and none for any possible haplotypes. However, we found strong evidence for parent-of-origin effects, with lower risk of maternal transmission compared with paternal transmission [I (M) = 0.38; confidence interval (CI): 0.17-0.86] of the risk allele T to an affected offspring at marker rs2300607. This is also expressed in an increased risk of heterozygous children having the T allele inherited from the father (R (P) = 3.47; CI: 1.32-9.11). Our data support the involvement of TGFB3 in the development of oral clefts in patients of central European origin.

Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.

OBJECTIVE: The 677C-->T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. PATIENTS/PARTICIPANTS: We examined 181 patients with CL/P of central European descent and their parents for this variant. RESULTS: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C-->T polymorphism and nonsyndromic CL/P as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). CONCLUSION: Our data suggest that the MTHFR 677C-->T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.