A 62 year-old caucasian male was admitted in our pulmonary hypertension expert center with initial diagnosis of pulmonary veno-occlusive disease for validation and specific treatment approach. Routine examinations revealed no apparent cause of pulmonary hypertension. Patient was referred for a thorax contrast enhanced multi-slice computed tomography which revealed extensive bilateral thrombi in pulmonary lower lobe arteries, pleading for chronic post embolic lesions. A right heart catheterization and pulmonary angiography confirmed the diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH). Following the local regulations, the patient underwent thrombophilia screening including molecular genetic testing, with positive findings for heterozygous for VCORK1 -1639G>A gene single nucleotide polymorphism, PAI-1 4G/5G and factor II G20210A gene. With heterozygous genetic profile of 3 mutations he has a genetic predisposition for developing a thrombophilic disease which could be involved in the etiology of CTEPH. Familial screening was extended to descendants; the unique son was tested with positive results for the same three genes. Supportive pulmonary hypertension drug therapy was initiated together with patient self-monitoring management of oral anticoagulation therapy. For optimal control of targeted anticoagulation due to a very high risk of thrombotic state the patient used a point-of-care device (CoaguChek®XS System, Roche Diagnostics) for coagulation self-monitoring.
Aim: Tooth agenesis is the most prevalent congenital malformation in humans. Many studies showed the importance of genetic factors in the emergence of tooth agenesis. MSX1, PAX9, PVRL1, IRF6, FGFR1, AXIN2 are genes involved in tooth agenesis. In this study we attempted to determine genetic traits data of patients from Tîrgu Mureş regarding tooth agenesis.
Material and method: Thirtyfour patients with tooth agenesis and 51 healthy volunteers were examined. Oral mucosal scrapings were collected from all the subjects. DNA was isolated and a genotyping experiment was performed. The procedures included four single nucleotide polymorphisms (SNPs): PAX9 -912 C/T, MSX1 3755 A/G, FGFR1 T/C, and IRF6 A/G.
Results: Besides the dominant allele, we observed the presence of the rare allele as well in each investigated polymorphism. There was a statistically significant difference in the distribution of the FGFR1 T/C gene polymorphisms between the two groups (p=0.02). Differences in the distribution of the IRF6, MSX1 and PAX9 gene polymorphisms were not significant statistically (p>0.4).
Conclusions: Our study showed, that FGFR1 T/C (26190464) polymorphism is a significant risk factor for non-syndromic tooth agenesis, preferential premolar agenesis. PAX9 and MSX1 gene may be associated with syndromes that include tooth agenesis. Further investigations are needed.