High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.

Aims: The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the FADS1 - FADS2 region to identify the connection of certain genotypes with obesity. Materials and Methods: For genotyping, classical methods of PCR-RFLP analysis were used. A sample of 446 DNA samples from Yakut volunteers without chronic diseases (143 women and 303 men) was studied. Results: The predominance of the ancestral alleles of SNPs rs174537, rs174546 and rs3834458 was established in all of our studied groups. Analysis of the odds ratio of allele and genotype frequencies in patients with normal BMI, high BMI and obesity did not show statistically significant values. We did not find an association between rs174537, rs174546 and rs3834458 with obesity, but we did not take into account the diet of the subjects, which may have had a stronger effect on BMI. Analysis of pairwise linkage disequilibrium and assessment of haplotypes for 3 SNPs in the FADS1 and FADS2 genes showed strong linkage of all three SNPs to each other (r2 = 0.93-0.96). Conclusions: According to the result of genotyping of SNP rs174537, the frequency of haplotype A in the Yakut population was 0.76 and, in comparison with other world data, is quite high. Which in turn is associated with lower conversion of short-chain polyunsaturated fatty acid to long-chain polyunsaturated fatty acid. Accordingly, a shift in nutrition towards more plant foods can negatively impact the health of the Yakuts. At the moment, the exact dosage of polyunsaturated fatty acids (PUFAs) for humans has not yet been established, but judging by the fact that all recommendations are mainly made on the basis of European populations, in connection with the results of the study, the Yakuts have a particularly high need for PUFAs.

Flow interruption of the distal radial artery: treatment for finger ischemia in a matured radiocephalic AVF.

PURPOSE: To establish an effective approach for diagnosis and treatment of hand ischemia in matured radiocephalic arteriovenous fistulae (AVF). METHODS: One hundred and fifty end-stage renal disease patients (4% of our practice) presented to our outpatient vascular access facility complaining of a range of symptoms including coldness, numbness and pain in the fingers indicative of ischemia due to steal syndrome. In 15 patients the symptoms of steal syndrome were limited to the fingers, sparing the hand. Physical examination was indicative of steal syndrome caused by shunting of blood from the ulnar artery via the palmar arch, away from the fingers and into the fistula. To confirm the diagnosis, angiography was performed which demonstrated retrograde flow in the distal radial artery (DRA), a hypertrophied palmar arch, and a patent hypertrophied ulnar artery. Ischemia was treated with DRA flow interruption. Transcatheter coil embolization of the DRA (10 patients) was preferred because it proved to be a quick, safe and effective technique. Whenever embolization was not possible ligation of the DRA was performed in accordance with accepted surgical literature (five patients). RESULTS: DRA flow interruption was effectively accomplished by either ligation or coil embolization in all cases. All patients had symptomatic improvement. Complete symptom resolution was experienced by 100% (10/10) of patients who received DRA embolization and by 3/5 patients who required ligation. The average follow-up period was 9 months. There were no complications during the procedure or during the follow-up period. CONCLUSION: Diagnosis using physical examination, angiography and treatment with embolization or ligation of the DRA can be performed with great success in an outpatient setting.

[Hemosorption in patients with chronic disorders of arterial blood circulation in the lower limbs]. / Gemosorbtsiia u bol'nykh s khronicheskim narusheniem arterial'nogo krovoobrashcheniia nizhnikh konechnostei.

Hemosorption was used in 35 patients with chronically disordered arterial circulation in the lower limbs. Atherosclerotic vascular lesions were noted in all the patients. The study group was composed of patients with diffuse lesions in the lower limbs' arterial bed, where surgical treatment was not indicated because of poor general condition, as well as those after reconstructive vascular surgery performed to prevent thrombosis and prolong operation of the shunts. Clinical parameters, blood lipid composition, rheovasographic, thermometric, thermographic, capillaroscopic, Doppler-ultrasonometric findings, and muscular flow (using local 133Xe clearance technique) were examined in all the patients before, and on days 1, 3, 7, 14 after the hemosorption. A stable short- as well as long-term improvement of regional circulation in lower limbs is noted after hemosorption. It appears to be a new promising method for the treatment of patients with atherosclerotic vascular lesion of lower limbs, where surgical treatment is not indicated, and survivors of vascular surgery for shunt thrombosis prevention.