The effect of subspinal Le Fort 1 corticotomy on nasal morphology in surgically assisted rapid palatal expansion.

The purpose of this retrospective study was to evaluate the influence of subspinal Le Fort 1 corticotomy (SLF1C) on nasal morphology in patients treated with surgically assisted rapid palatal expansion (SARPE) using three-dimensional (3D) stereophotogrammetry images. A total of 64 patients were enrolled in the study and divided into two groups according to the surgical approach that was used: in group 1 (n = 32) SARPE was performed using a conventional Le Fort 1 corticotomy (CLF1C), and in group 2 (n = 32) SARPE was performed using a subspinal Le Fort 1 corticotomy (SLF1C). Measurements of alar and columellar width, and nasolabial angle were taken on 3D stereophotogrammetry images before and after SARPE using Vectra 3D camera system.

Thymoma mimicking an aortic aneurysm: always expect the unexpected.

Thymic epithelial tumours (TETs) are rare lesions that represent less than 1% of all malignancies in adults. Presentation occurs in three ways: asymptomatic, with local thoracic symptoms or with paraneoplastic symptoms. Heterotopic ossifications are rare histological features in neoplasms and non-neoplastic lesions.

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Background: Most currently known breast cancer predisposition genes play a role in DNA repair by homologous recombination. Recent studies conducted on RAD51 paralogs, involved in the same DNA repair pathway, have identified rare germline mutations conferring breast and/or ovarian cancer predisposition in the RAD51C, RAD51D and XRCC2 genes. The present study analysed the five RAD51 paralogs (RAD51B, RAD51C, RAD51D, XRCC2, XRCC3) to estimate their contribution to breast and ovarian cancer predisposition.

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.

Retinoblastoma (Rb) results from inactivation of both alleles of the RB1 gene located in 13q14.2. Whole-germline monoallelic deletions of the RB1 gene (6% of RB1 mutational spectrum) sometimes cause a variable degree of psychomotor delay and several dysmorphic abnormalities.