We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-β pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient\'s management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.
[Box: see text].

It has been proposed that epithelial-mesenchymal transition (EMT) is responsible for the pathogenesis of several diseases. However, the relationship between the EMT process and the severity of periodontitis has not been previously investigated.
This study aimed to localize and quantitatively assess the expression of transforming growth factor-beta 1 (TGF-β1), vimentin and E-cadherin in correlation with the EMT process in human gingiva of periodontally diseased patients in comparison with halthy individuals.
Gingival tissue samples from 36 participants were divided into 2 groups: the healthy (control) group (n = 9); and the periodontitis group (n = 27). The periodontitis group was further subclassified into mild, moderate and severe periodontitis subgroups (9 patients in each subgroup). The samples were subjected to histological staining, the histomorphometric analysis and the quantitative real-time polymerase chain reaction (RT‑PCR) analysis for TGF-β, vimentin and E-catherin. Statistical and correlation analyses were performed.
The hematoxylin and eosin (H&E) stain sections from both the moderate and severe periodontitis subgroups showed epithelial hyperplasia, perinuclear haloing and a marked increase in the inflammatory cell count as compared to the control group. The highest mean TGF-β1 and vimentin expression values were recorded in the severe periodontitis subgroup, whereas the lowest mean values were recorded in the control gingiva. On the contrary, the expression of E-catherin had the highest mean value in the control gingiva, whereas the lowest mean value was recorded in the severe periodontitis subgroup. All results were found to be statistically significant. The correlation analysis revealed a statistically significant positive correlation between the severity of periodontitis and the expression of TGF-β and vimentin, while a statistically significant inverse correlation was found between the expression of E-catherin and the severity of periodontitis.
There is a direct correlation between the severity of periodontitis and the expression of the EMT process markers (TGF-β and vimentin). This correlation indicates that EMT plays an important role in the pathogenesis and prognosis of periodontal disease. The data presented in this study could open the door for using anti-EMT agents in treating periodontal disease.

UNASSIGNED: Alteration in serum expression of Transforming Growth Factor-beta (TGF-β) and IL-10 have been suggested to play a role in the pathogenesis of Kawasaki Disease (KD). Inconsistent reports exist on the association of IL-10 polymorphisms with KD susceptibility and Coronary Artery Aneurysms (CAA).
UNASSIGNED: A number of 110 paediatric patients with KD and 140 healthy individuals were recruited to investigate the frequency of Single Nucleotide Polymorphisms (SNPs) of TGF-β C/T at codon 10 (rs1982073), C/G at codon 25 (rs1800471) and IL-10 A/G at -1082 (rs1800896), C/T at -819 (rs1800871) and A/C at -592 (rs1800872) and their respective genotype and haplotypes. A comprehensive search was performed in MEDLINE and SCOPUS using the keywords of interleukin 10, transforming growth factor beta, and Kawasaki disease. Moreover, previous studies investigating the TGF-β and IL-10 polymorphisms in KD were evaluated. Review Manager Version 5.1 Software was used to perform meta-analysis.
UNASSIGNED: There was no significant association between allelic or genotypic variants in the mentioned polymorphisms in TGF-β or IL-10 with KD or CAA. The only significant haplotypic variant was TC variant at codon 10, and 25 of TGF-β polymorphisms were associated with higher risk of KD. Meta-analysis of a total number of 770 patients vs. 1471 healthy controls showed no difference in the frequency of any of the IL-10 genetic variants in KD patients, regardless of the presence of CAA.
UNASSIGNED: Polymorphisms of TGF-β or IL-10 are not associated with additional risk for KD in Iranian population. IL-10 polymorphisms at -1082, -819 and -592 positions are not associated with KD, nor do they predict coronary artery aneurysm formation.