Nawel Jaafar has received the BSc. degree in Medical Biotechnology and MASc. degree in Genetics and Biodiversity in the High Institute of Biotechnology, Monastir – Tunisia. Currently, she is a PhD student (3rd year) in Biological sciences and Biotechnology. She achieved several projects in molecular biology and genetics fields.
Hypertrophic Cardiomyopathy (HCM) is a common genetic cardiac disorder, caused by mutations in genes encoding for sarcomere proteins and transmitted in an autosomal dominant form. Data about the mutational spectrum in HCM patients from North Africa is limited. We performed semiconductor ship (Ion Torrent PGM) next generation sequencing of the main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) in 45 Tunisian HCM patients. Overall, we found a total of 14 carriers (31%) with MYH7and MYBPC3 presenting 75% of the mutations. A patient was homozygous for a new MYL3 mutation and two patients were double mutation carriers (MYBPC3+MYH7). In conclusion, we did report the mutationnal spectrum of the main genes in Tunisian HCM patients and like studied other ethnic groups, mutations in MYBPC3 and MYH7 are the most frequent.
Artur Gabriyelyan dedicated his professional life to treatment of people heart diseases. He now has more than 25-year experience in cardiovascular surgery. His latest researches in CBSC transplantation were based on both hospital and educational institutions, which should lead to further investigations in the area with a wide potential for opinion pluralism.
Statement of the Problem: Prevalence of heart failure (HF) is expected at 2-3% of the population. One-year survival with medical therapy is about 57-64%. Due to the shortage of donor organs transplantation waiting time can stretch up to two years. For some patients with severe chronic HF medication is not effective. Cord blood stem cells (CBSC) is perspective, but is not enough researched in the treatment of HF. Methodology & Theoretical Orientation: 14 patients at the age of 49±6 years, with ejection fraction (EF) 22+5%, NYHA Class ІІІ-ІV, with intravenous infusion of CBSC treatment effectiveness were analyzed. The results of clinical and special methods of patients with CBSC transplantation during 1-year research were investigated. Findings: In comparison with the initial state all of the patients failed to compensate manifestations of HF, achieved target of therapeutic doses of β-blockers, diuretics doses were significantly reduced. EF of left ventricle was improved from 22% to 28,5%, level NT-proBNP was decreased by 21,3±7%. Analysis on quality of life questionnaire MLHFQ showed improvement in subjective patient\'s status. Questionnaire SF-36 showed improvement in clinical and psychological health component. Risk of one- and three-year death on a scale MAGGIS was decreased from 16-20% to 11-17% respectively. Analysis of arrhythmias according to Holter monitoring prior to and during follow-up showed no progression in arrhytmological events after CBSC transplantation. Immunological analysis revealed no reactivation of viral infection, no rejection. Conclusion & Significance: The best results were obtained at 3-6 months after CBSC transplantation. Despite of the negative trend in the period from 9 to 12 months, the condition of patients was significantly better. These results demonstrated the efficiency of CBSC transplantation in complex conservative treatment of refractory HF, improvement of life quality and allow to extend waiting time of a donor organ.