Trends and Causes of Congenital Anomalies in the Pleven Region, Bulgaria
We describe the secular trend, pattern and causes of congenital anomalies (CAs) in the Pleven region, Bulgaria. The source of the data was the regional population-based registry of CAs using criteria according to EUROCAT recommendations. During the period 1988-2006, 47,622 births were surveyed. A total of 1,225 cases of CAs were ascertained, giving a total prevalence of 25.72 [95% confidence interval (95% CI) 24.3 to 27.15 per 1,000 births. There was a significant increase in total prevalence from 17.76 per 1,000 births in 1988 to 29.40 in 2006 (χ2 test for trend = 5.03; p = 0.025). Congenital heart disease (4.3 per 1,000 registered births), nervous system anomalies (3.3 per 1,000 births), limb defects (2.5 per 1,000 births) and neural tube defects (2.0 per 1,000 births) demonstrated the highest prevalence. There was a significant upward trend in the prevalence of some specific anomalies: digestive system, tumors, gastroschisis and non syndromal dysmorphologic conditions. Genetic causes were identified in approximately 62% of all cases with CAs (chromosomal 8%, single gene defects 14%, multifactorial 40%). The secular trend and particular pattern of CAs in the Pleven region require some potential underlying contributing factors to be considered: case ascertainment and diagnostic methods, and some environmental factors. These data draw attention to the need of further regional epidemiological studies. The high proportion of genetic causes emphasize the role of genetic services as an integral part of preventive medical care.
Food allergy is an immunoglobulin E-meditated reaction, to which the organism’s immune system reacts to a food allergen, recognizing it as harmful. The study aimed to establish at what age cow’s milk protein allergy is manifested and determine the values of immunoglobulin E (IgE) and hemoglobin(Hb) in children with CMPA in Pleven region, Bulgaria. The study included 94 infants presenting with clinical manifestations of food allergy (age range 0 to 12 months) from Pleven and Pleven region, consulted in 2017 by a pediatrician at the University Hospital Consulting Center in Pleven. Venous blood was collected to determine the IgE and Hb values. Chronic iron-deficiency anemia could be the only clinical manifestation in children with CMPA. Out of all the children with CMPA, 17% had a pronounced anemic syndrome. The rest had normal Hb values. Anemic syndrome could have severe consequences for a growing child. Elevated IgE values were found in 73% of the children tested. CMPA is frequently seen in infants. Early diagnosis of clinical manifestations and diet could prevent severe complications of allergy such as chronic diarrhea, chronic urticaria, and asthma.
Wild bees (Apiformes) were studied in 4 crop fields and 8 refuge habitats for 2 - 5 years in agricultural landscapes in the Pleven and Plovdiv regions of Bulgaria. In total, 233 bee species were recorded. Bee forage plants visited by the honey bee and wild Apiformes are listed for each refuge habitat. Species composition is given for individual habitats, including fields of alfalfa (Medicago sativa), oilseed rape (Brassica napus), sunflower (Helianthus annuus), and radish (Raphanus sativus). Species richness and dominance structure of bee communities in the 2 regions are compared, and species responsible for significant differences are identified.
The species composition and number of visitations of food plants by bees were studied in refuge sites in agricultural landscapes and in selected crops. The habitat fragments of interest are characterised in terms of pollinator diversity at genus level and the use of food plants by individual genera. Trophic and temporal niche overlap is described for individual genera and the honey bee Apis mellifera in different habitat types. Factors influencing the manner of use of individual plant species by pollinating insects are identified
Atrial fibrillation (AF) is the commonest type of arrhythmia seen in everyday clinical practice, which leads to a significant increase in both morbidity and mortality. Its incidence increases with age and tends to turn into an epidemic. The cause of AF in 10-20% of cases remains unknown. Several mutations and polymorphism that might be responsible for the development of AF have been found, including single nucleotide polymorphisms (SNPs) - rs2200733 and rs10033464 in the long arm of the fourth chromosome. These polymorphisms are selected o the basis of genome- wide association study in Iceland from 2007, the results from which were later confirmed in 4 other large populations. The rs2200733 is a common noncoding polymorphism, described in National Center for Biotechnology Information (NCBI) database dbSNP like NC_000004.12:g.110789013C>T, with a frequency of the less common allele between 0.1 and 0.24. In order to investigate the association between the rs2200733 polymorphism in chromosome 4q25 and the development of AF, we studied the frequency of this polymorphism in patients with heart diseases from the Pleven region, and thus evaluate the relationship between the individual genotype and the clinical condition of the patients. We carried out a case-control study on 80 patients: 40 with AF and 40 without AF- from the Pleven region. None of these had structural heart disease. The study was conducted between November 2015 and November 2017. With deoxyribonucleic acid (DNA) analysis, we determined rs2200733 polymorphism, using a TaqMan-based polymerase chain reaction (PCR). The Cochran-Armitage trend test, the Chi-Squared Pearson correlation, Fisher test we used confirmed the statistically significant association between the rs2200733 polymorphism in chromosome 4q25 and the development of AF. In the population examined, the genotypic frequencies were as follows: CC - 45 (56.2%), CT - 19 (23.8%), TT - 16 (20%), with value of Chi-Square (χ2) 24.496, df=2, p<0.001. Screening for SNPs could be a useful marker for the detection of patients predisposed to AF.
Human papillomaviruses (HPVs) are associated with the most common sexually transmitted infections. It is well documented that high-risk (HR)-HPVtypes are etiologically associated with some cancers. The aim of the study was to investigate HPV16-DNApositivity and prevalence of Ig Gantibody against HPV16 in patients with laryngeal carcinoma and precancerous lesions of cervix uteri in Pleven region, Bulgaria. Material/Methods: We performedacross-sectional study and investigated clinical materials. Attached is real-time PCR-analysis for detection of HPV16-DNA. HPVspecific antibody response by enzyme-linked immunosorbent assay (ELISA) test for detection and quantification of specific Ig Gantibodies in serum were used. Results: For the six-month period, 30 samples were collected and tested. Fourteen of them were found in patients with carcinoma of the larynx and sixteen - in patients with various lesions of cervix uteri.We found that six patients (42.8%) in the first group and eight patients (50%) in the second group were HPV16-DNA-positive. Different age groups were affected. The sera analyzed in this study showed that seven patients (50%) with carcinoma of the larynx were seropositive of whom four (57%) were males. Fourteen of the females with dysplasia (88%) were seropositive. Matching DNApositivity and antibody response were found in 29%of the patients with laryngeal cancer. The match was found in 50%of the females with cervical dysplasia. Conclusions: Real-time PCRisarapid, cost-effective method for detection of HPVs.Ahigh level of seropositivity was found in the two groups of patients.
Detection of mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene is an effective method of early diagnosis and prevention of breast cancer (BC). The mutational spectrum of both genes in Bulgarian population has not been studied in depth. The aim of this study was to investigate the prevalence of five deleterious BRCA1/2 point mutations in high-risk BC women, selected according to the National Comprehensive Cancer Network (NCCN) Guidelines including early age of onset, triple-negative BC and family history of breast or ovarian cancer. The prevalence of two BRCA1 mutations (C61G and 5382insC) and three BRCA2 mutations (6079del4, 9326insA and 9908delA) was evaluated in 80 females with BC, obtained from the Cancer Registry of University Hospital - Pleven. Genetic testing was performed by direct DNA sequencing. One deleterious mutation (5382insC in exon20 in BRCA1) was been found in two patients (2.5%). Both women were diagnosed with BC before age 45. The prevalence of BRCA mutations established in our study was lower than the one found in another preliminary study on Bulgarian population. We concluded that this discrepancy was due to the genetic heterogeneity of the population and the specific mutational spectrum of the BC patients from the Pleven region.
(2): 55-67. Petrova JG, Vaktskjold A. The incidence of neural tube defects in Norway and the Arkhangelskaja Oblast in Russia and the association with maternal age. Acta Obstet Gynecol Scand. 2009; 88(6): 667-672. Kovacheva K, Simeonova M, Velkova A. Trends and causes of congenital anomalies in the Plevenregion, Bulgaria. Balkan J Med Genet. 2009; 12(1): 37-43. Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. 2004; 364(9448): 1885-1895. Van der Put NM, van Straaten HW, Trijbels FJ, Blom HJ. Folate, homocysteine and
sweepings during the vegetation period of 2012 reached 479.0 in L . albus and 192.0 in L . luteus . The insect number decreased to 13.4% and 41.3% in L . albus and to 9.4% and 49.0% in L . luteus during the vegetation periods in 2013 and 2014, respectively. Table 1 Meteorological characteristics in the Plevenregion Month Ten-day periods Temperature, °C Rainfall, mm Relative humidity, % 2012 2013 2014 2012 2013 2014 2012 2013 2014 1-10 12.2 10.5 11.9 14.2 33.1 37.6 57 76 71 April 11-20 14.3 12.5 9.9 22.1 17.6 69.9 66 65 82 21-30 17.8 19.5 14.9 10.0 0 32.3 54 52