Complex chromosome translocations are structural chromosomal rearrangements involving three or more chromosomes and more than two breakpoints. A complex chromosome rearrangement was detected in a phenotypically normal female patient that was referred to the hospital for genetic counseling due to reproductive failure. A cytogenetic evaluation was performed, according to standard method of chromosomal analysis, using G-banding technique. The patient's karyotype showed a balanced complex chromosome rearrangement (BCCR) involving chromosomes 1, 8, and 11 with three breakpoints 1p31, 8q13, and 11q23. The karyotype designed according to ISCN (2013), is 46,XX,t(1;8;11)(p31;q13;q23) (8qter→8q13::1p31→1qter;8pter→8q13::11q23→11qter;11pter→11q23::1p31→1pter). Additionally, the proband's mother and brother were tested, resulting in the same exact translocation. In this study, we describe all possible meiotic segregations regarding this translocation, as well as the clinical phenotypes which could arise, if unbalanced products of conception survive. This is a rare case of familial complex chromosome rearrangement, giving a view for its reproductive consequences.

No abstract

The aim of our study was to determine the type and frequency of chromosomal aberrations and polymorphisms in men with different degrees of spermatogenic failure in comparison to men with normozoospermia, in order to find correlations between cytogenetic findings and the abnormal results of semen analysis. In our study, we performed cytogenetic analysis in 901 infertile men, divided into five groups according to semen analysis—normozoospermia (86), asthenozoospermia (394), oligoasthenozoospermia (182), severe male factor (100), and azoospermia (139). The frequency of polymorphisms was similar in all groups (11–16%, without significant differences). The frequency of numerical and structural aberrations increases with the degree of the spermatogenic failure (3.5% in normozoospermia, 5.6% in asthenozoospermia, 9.8% in oligoasthenozoospermia, 9% in severe male factor, and 13.5% in azoospermia). We found a significantly higher incidence of numerical chromosomal aberrations in severe male factor (7%) and azoospermia (9.3%). Oligoasthenozoospermia occured in 45% of cases with translocation, compared to 20% in the group with a normal karyotype. We revealed that chromosomal translocations are tightly associated with oligoasthenozoospermia, whereas numerical chromosomal aberrations—with severe male factor and azoospermia. The impact of chromosome polymorphisms on male infertility should be studied in greater detail.

Purpose: Platanus pollen is a serious cause of asthma, allergic rhinitis and conjunctivitis in many European countries. The aim of the present pilot study is to investigate the sensitization to 3 different plane tree species in a group of patients with pollinosis. Materials and methods: 21 patients were surveyed - 11 men and 10 women. A skin prick test was performed with a set of allergens: Grass pollen mix; Betulaceae pollen mix; Platanusorientalis; Platanusacerifolia; Platanusoccidentalis. Results: 95% of patients are sensitized to grass pollen, with moderate positive skin reactions predominating. 86% have a co-sensitization to tree pollens also, particularly to the birch tree family. Only 3 (14%) of the studied patients showed slight positive skin tests to the studied plane tree allergens, with no significant difference in sensitization to studied Platanus species (p>0,05). Conclusion: At present, the sensitization to different Platanus species is not comparable to that of grass or birch pollen. However, it will be necessary to conduct new long-term, large-scale studies to prove whether Platanus pose a real threat to people in urban areas. The results of this interdisciplinary study are important both for clinical allergologists and for landscape architects and ecologists involved in the planning and management of urban green infrastructure.

Cervical cancer ranks as the 4 th leading cause of female cancer and cancer deaths in the world. More than 99% of cervical cancer cases are due to HPV infection. Vaccination can significantly reduce the number of HPVrelated cancers in the future. The next big step is to change the order of the tests, ie. cervical cells are first tested for HPV, and then analyzed under a microscope. The objective of our study was to define the incidence of 19 types of HPV in Bulgarian women attended for routine gynecologic examination, in order to obtain the molecularepidemiological spectrum of this infection in the context of the actual preventive programs. We have used the medium-high risk PapillomaStrip kit, based on the principle of reverse hybridization, in samples of 151 Bulgarian women. We detected the total frequency of 44.4% for HPV infection and higher frequency in younger age group (<30 years-47.5% and 30-40 years-50%) compared to > 40 years old women (28%). The most frequent HPV types from our study were HPV 45 and 52 (10.6%), HPV 66 (8.6%) and HPV 31 (8%). In PAPI/II it was HPV52 (11.3%), followed by HPV45 (10.5%) and HPV66 (8.3%). In PAPIII the most common was HPV16 (44.4%), followed by HPV 45, 31, 66 and 59 (each of 22.2%). We emphasized on the high frequency of HPV45 in our study, which is reported as one of the most frequent types in cervical cancer. In conclusion, HPV genotyping provides information on the carriage of high-risk types and increased attention to these patients. This is a valuable information for planning preventive programs in regard to choosing diagnostic tests and vaccination. Our results revealed the wide spectrum of HPV infection in Bulgarian women, as about 70% of infected patients carry high-risk HPV 45, 52, 31, 16 and 18.

AbstractAmbrosia artemisiifolia L. is a leading cause of allergies in many countries. In the last decade it has appeared and spread in Bulgaria as well. The aims of this study was to collect pollen from ragweed plants in Bulgaria, prepare the first Bulgarian ragweed allergen, and characterize it. The new allergen was studied in parallel with two other ragweed pollen extracts from the USA and Russia. The protein profile was studied through isoelectric focusing, and the total allergen activity was studied by a skin prick test and a basophil activation test. The proteins of the studied extracts were concentrated in the pI region 3.5–5.5 with an identical band number and location. The allergens showed similar total allergen activity in vivo:14/81 tested patients (17.3 %) were SPT positive either to a single ragweed extract or to all three. The allergens had identical histogram profiles and caused basophil degranulation above the test cut-off. The analysis of the flow cytometry results by parallel line bioassay shows linear dose-response relation between the extracts. The observed immunological properties of the Bulgarian allergen from Ambrosia artemisiifolia provide a possibility to use this product for a reliable diagnosis and effective specific immunotherapy of ragweed allergy in our country.

No abstract