Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss.Methods. 200 patients, including 76 with thrombotic accidents and 124 with two or more idiopathic recurrent miscarriage during the first trimester, were tested for the presence of Factor V (F V) Leiden G1691A, Factor II (F II) G20210A, plasminogen activator inhibitor (PAI) 4G/5G, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms using Real time polymerase chain reaction (RT – PCR) in the Laboratory of Medical Genetics, Varna, Bulgaria between June 2016 and May 2019. Frequencies of thrombophilic gene polymorphisms were compared among the two populations and to the expected genotype frequencies.Results. Individuals with a history of vascular disorders had a significantly higher frequency of F V Leiden variant compared to women with recurrent miscariage. There was no statistical difference between the analyzed patients for the other three thrombophilic polymorphisms. The allelic frequencies and the expected genotype frequencies of the F V, F II and MTHFR polymorphisms were calculated according to Hardy-Weinberg equilibrium. The percentages of the homozygotes for F V and F II were higher than expected in the two groups of patients. For the MTHFR there was no difference.Conclusion. F V Leiden remains the strongest risk factor for vascular disorders and recurrent pregnancy loss. Screening for this variant should be recommended to patients with thrombotic accidents and women with repeated miscarriage. The role of F II, PAI and MTHFR remains controversial.

Cytogenetic analysis has been a part of the routine assessment of patients with haematological malignancies for several decades. We aim to summarize and assess the activity and performance of the Cytogenetic sector of the Laboratory of Medical Genetics -Varna, in regards to conventional cytogenetic analysis of bone marrow samples from patients with various haematological diagnoses. Another purpose is to evaluate the tendencies noticed over a period of eleven years in order to draw conclusions and share our experience.We performed retrospective analysis on all bone-marrow-derived samples in our centre during the period 2010-2020. We evaluated 2,653 results in total from patients of age 0-93 years. Samples were stained with the G-banding technique in accordance with the current European recommendations and the International System for Human Cytogenomic Nomenclature. A statistical analysis of tendencies over time was performed with the use of GraphPad Prism (v. 8.3.0).Haematological malignancy was the most frequent indication (90.9%) with predominance of acute myeloid leukaemia, myelodysplastic syndrome, acute lymphoid leukaemia, chronic myeloid leukaemia, and multiple myeloma. Analysis was successful in 2,215 (83.5%) -from those normal karyotype was found in 1492 (67.4%), and pathology -in 723 (32.6%). Regarding the latter, most common were complex karyotype (29.9%), Philadelphian chromosome (21%), trisomy 8 (6.1%) and deletion of the long arm of chromosome 5 (4.4%).The method holds a great in uence over the evaluation of haematological malignancies and thus it remains an essential part of standard work-up of these diseases. The scienti c society recognizes the disadvantages of cytogenetic analysis; as our own experience also con rms, an additional genetic method of greater resolution capacity is needed.

Bron chial asthma is a chronic lung in flam ma tion. This is the most wide spread and so cially sig nif i cant dis ease among non-in fec tious dis eases. Its treat ment is ex pen sive and long-last ing. In case of in ad e quate man agement, in ad vanc ing age and pro gres sion of bron chial asthma, its treat ment be comes in creas ingly ex pen sive and in ef fec tive. This of ten re sults in hos pi tal iza tion and dis abil ity. Di rect and in di rect eco nomic costs are related to eco nomic losses es ti mated at 17,7 bil lion Eu ros per year in Eu rope. It is as sumed that about 5% of adults and from 7% to 10% of chil dren suf fer from bron chial asthma. The dis ease man i fests at all ages but is more com mon in early life. About half of all the cases of bron chial asthma de velop in the age of 10 years, and an other one-third of cases oc cur be fore 40 years of age. In child hood male-to-fe male ra tio is 2:1, which equalizes by 30 years of age. The study an a lyzes the in ci dence rate of bron chial asthma among chil dren ac cord ing to sex, age, fre quency of at tacks, ther apy and side ef fects re sult ing from it. The so cial as pects and prob lems of bron chial asthma pa tients in North East ern Bul garia are pre sented. The in quiry has been con ducted among two groups of re spon dents: phy si cians and pa tients. Two dif fer ent ques tion naires have been elab o rated targeting at each group. These groups have se lected to cover the disease from its first symptoms, which is of utmost importance for its diagnosis and treatment monitoring.