Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population.

INTRODUCTION: The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility or unbalanced products of conception. Normally, inversions are not associated with phenotypic alterations for the carrier. Despite the fact that most such inversions are de novo and unique, recurrent breakpoints have also been reported. METHODS: Here two recurrent paracentric inversions in the long arm of chromosomes 11 and 12 and a pericentric one in chromosome 10 were studied in at least 10 unrelated (infertile) patients, each. Breakpoints were narrowed down by fluorescence in situ hybridization applying locus-specific bacterial artificial chromosome-derived probes. RESULTS: Molecular cytogenetically identical breakpoints could be characterized for all three studied inversions. Pericentric inversion inv(10)(p11.21q21.2), previously reported to be of single origin and distributed mainly in Northern Europe, could be found to be present all over Germany, too. In the studied cases with paracentric inversion inv(11)(q21q23.3), recurrent breakpoints were found in all parts of Germany, as well; however, additional 2 cases with slightly different breakpoints were characterized besides. Most interestingly, inversion inv(12)(q14.1∼14.2q24.11∼24.13) had always the same recurrent breakpoints and presented an exclusive occurrence in North-Western part of Germany. CONCLUSION: Overall, (at least) three different cytogenetically detectable recurrent inversions were characterized here. This highlights that such events may be more frequent in human population than yet suggested. Accordingly, such events might even spread in (middle European) human population. Specific impact on reproduction and fitness of inversion carriers characterized here seems to be negligible. Nonetheless, such recurrent rearrangements need more attention as they may provide valuable information for genetic counseling in future.

Malocclusion or laterorhinia: Which one impacts aesthetic facial perception the most?

INTRODUCTION: This study aimed to evaluate the perception of facial attractiveness when nose and teeth, together or isolated, present different degrees of disharmony. The secondary objective was to compare the perception of laypersons with that of dentists. MATERIALS AND METHODS: This cross-sectional observational study included 112 individuals (58 laypersons and 54 dentists) that evaluated 6 manipulated images of the face of the same model, scoring their attractiveness using 10 cm Visual Analogue Scales (VAS), with least and most attractive at the left and right anchors, respectively. The images contained manipulations performed only on the nose (laterorhinia) and mouth (misaligned teeth), as follows: (1) standard photograph, with symmetrical nose + aligned teeth; (2) 2 mm nasal deviation + aligned teeth; (3) 4 mm nasal deviation + aligned teeth; (4) symmetrical nose + misaligned teeth; (5) 2 mm nasal deviation + misaligned teeth and (6) 4 mm nasal deviation + misaligned teeth. We used the repeated measures ANOVA test and Tukey's post-test for intra-group comparison of the images. The independent t-test was used for inter-group comparison of each image. RESULTS: In the laypersons' group, the highest grades were given to images with aligned teeth and the lowest to misaligned teeth (smallest mean difference = 2.88 cm). For this group, there was no statistically significant difference (P-values ranged from .988 to 1.000) between scores of the three images in which teeth were aligned (range of 7.70-7.78 cm). In the group of dentists, highest grades were given to images with aligned teeth and the lowest to misaligned teeth. Difference between images 3 and 4 was not statistically significant (P = .204). All other differences between any image of straight teeth and any image with misaligned teeth were significant and the smallest mean difference between the two groups of images was 1.87 (P = .039). However, in the images with aligned teeth, there was also a statistically significant difference with higher scores to the images with symmetrical nose in contrast with those with significant laterorhinia (mean difference = 1.03 cm). CONCLUSION: Teeth disharmonies had a more negative impact on the aesthetic perception of the face than did nose deviations, for both dentists and laypersons.

A importância da promoção de saúde bucal para a criança cardiopata / The importance of oral health promotion towards children with heart disease

A relação entre os microorganismos bucais e o risco de endocardite infecciosa em pacientes portadores de cardiopatias é bastante conhecida. A higiene bucal deficiente e as más condições dentárias destes pacientes resultam em bacteremias frequentes o que os coloca em risco permanente de desenvolver endocardite infecciosa. Este artigo tem como objetivo enfatizar, por meio de revisão da literatura, a inclusão do odontopediatria na equipe multidisciplinar que presta atendimento a crianças cardiopatas, priorizando o papel de educador em saúde bucal.