Zygomatic bone: Anatomic bases for osseointegrated implant anchorage

Purpose: The aim of the present study was to evaluate zygomatic bone thickness considering a possible relationship between this parameter and cephalic index (Cl) for better use of Cl in the implant placement technique. Materials and Methods: Cl was calculated for 60 dry Brazilian skulls. The zygo matic bones of the skulls were divided into 13 standardized sections for measurement. Bilateral measurements of zygomatic bone thickness were made on dry skulls. Results: Sections 5, 6, 8, and 9 were appropriate for implant anchorage in terms of location. The mean thicknesses of these sections were 6.05 mm for section 5, 3.15 mm for section 6, 6.13 mm for section 8, and 4.75 mm for section 9. In only 1 section, section 8, did mean thickness on 1 side of of the skull differ significantly from mean thickness on the other side (P <.001). Discussion: For the relationship between quadrant thick ness and Cl, sections 6 and 8 varied independently of Cl. Section 5 associated with brachycephaly, and section 9 associated with subbrachycephaly, presented variations in the corresponding thickness. Conclusion: Based on the results, implants should be placed in sections 5 and 8, since they presented the greatest thickness, except in brachycephalic subjects, where thickness was greatest in section 5, and in subbrachycephalic subjects, where thickness was greatest in section 9. Cl did not prove to be an appropriate parameter for evaluating zygomatic bone thickness for this sampling.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.

Estudo citogenético da região 17p11.2: a síndrome de Smith-Magenis

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise molecular de pacientes com síndromes de Smith-Magenis

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Estudo retrospetivo sobre traqueostomia permanente como tratamento cirúrgico em cães com síndrome braquicefálica obstrutiva

Dissertação de Mestrado Integrado em Medicina Veterinária