Incidence of the MTHFR polymorphisms in patients with varicose veins.

BACKGROUND: Varicose vein disease is one of the most common inherited disorders worldwide that causes mental, cosmetic, medical, and socio-economic problems. Varicose vein formation is thought to be multifactorial and often develops through the interaction of environmental and genetic risk factors. Its incidence displays a trend parallel to the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism worldwide. The objective of this study was to determine the incidence of MTHFR C677T and A1298C mutations in Turkish patients with varicose veins. MATERIAL AND METHODS: Our study included 98 patients with varicose veins; twenty-nine (29.6 %) males and 69 (70.4 %) females, with a mean age of 52.9 ± 14.7 (age range: 12-83) years. Polymorphisms were investigated by polymerase chain reaction (PCR) which is an enzymatic reaction of DNA amplification, and allele-specific hybridization. RESULTS: The homozygous MTHFR C677T polymorphism was detected in 13 (13.3 %), and heterozygous MTHFR C677T polymorphism in 37 (37.7 %) patients. The homozygous and heterozygous MTHFR A1298C polymorphisms were found in nine (9.2 %), and 47 (47.9 %) patients, respectively. The combined double heterozygous genotype MTHFR C677T/MTHFR A1298C was identified in 19 (19.4 %) patients. The rates of factor V Leiden (FVL) and prothrombin gene (PT G20210A) polymorphisms were found as 11.2 %, and 4.1 %, respectively. Additionally, the majority of patients with thrombosed varicose veins were accompanied by FLV polymorphism. CONCLUSION: Our findings display that the rates of MTHFR C677T and A1298C genotypes are similar between patients with varicose veins and healthy subjects in Turkish society. However, should FLV or PG G20210A polymorphisms accompany these polymorphisms, then there might be a tendency to development of superficial venous thrombosis. Further studies are required to support these findings. HIPPOKRATIA 2017, 21(4): 175-179.

The prevalence of Factor V Leiden, prothrombin G20210A, MTHFR C677T and MTHFR A1298C mutations in healthy Turkish population.

BACKGROUND: Factor V Leiden (FVL), prothrombin gene (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms are the main biomarkers used in the evaluation of tendency to venous thromboembolism. Our study aimed to investigate the distribution frequencies of these polymorphisms in healthy Turks living in the urban Yozgat region.  MATERIAL AND METHODS: This study included 90 blood donor candidates. All the donors were apparently healthy, and there was no family relationship between them. Mutations including FVL, PT G20210A, and MTHFR (C677T, A1298C) were investigated in all participants. Screening of polymorphisms was carried out using the SNaPshot® multiplex system. RESULTS: There were 42 male and 48 female individuals with age range 17-78 years and mean age 47.5 ± 13.6 years. The heterozygous FVL mutation was noted in 17 (10 male and seven female) donors (19%). FVL mutation was more frequently encountered in males than in females (23.8% vs. 12.5%). The heterozygous PT G20210A mutation was observed in five (5.5%) of the 90 (three male, two female) donors. The prevalence of homozygous polymorphisms of MTHFR C677T was 8.8% and of MTHFR A1298C 13.3%. On the other hand, four of the 90 participants (4.4%) carried none of these polymorphisms. CONCLUSION: This study showed that the prevalence of FVL, PT G20210A, MTHFR C677T and MTHFR A1298C polymorphisms is quite high, and the coexistence of FVL with other genotypes is not rare in a healthy Turkish population living in the Yozgat region. Of course, further detailed studies should be performed to support these findings. Hippokratia 2015; 19 (4): 309-313.

Multiple aneurysms of the cephalic vein. A case report.

An uncommon case of multiple multiform venous aneurysms of the cephalic vein of a seventeen-year-old girl is presented. The case is discussed in the light of the related literature.

Infected myocardial hydatid cyst imitating left ventricular aneurysm.

We report a case of infected intracardiac hydatid cyst in a patient who had complaints of chest pain, exertional dyspnea, palpitation, evening fever and fatigue. Echocardiography demonstrated a left ventricular apical cystic mass in 7 cm diameter. Magnetic resonance imaging and hemagglutination test confirmed the diagnosis. Single capsulated cyst full of pus was surgically removed by using cardio-pulmonary bypass. Histopathological examination revealed an infected hydatid cyst. Postoperative recovery was uneventful and the patient remains free of symptoms after one year of follow-up.