Acta Medica Bulgarica
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Published By Walter De Gruyter Gmbh

2719-5384

2021 ◽  
Vol 48 (4) ◽  
pp. 62-68
Author(s):  
V. Mihaylova ◽  
I. Ivanova ◽  
A. Alakidi ◽  
K. Kilova ◽  
M. Liochkova

Abstract A doctrine was established regarding the so called “new beginning” – the transition to the post-retirement period for a full-value experience of the available compensatory reserves and creation of overcoming strategies for opposing and coping with the obstacles in the still uncommon lifestyle of the senior citizen. By outlining the role of physical activity in a synthesized format, a successful attempt for data classification worldwide was made; in one fourth of the elderly people there is insufficient physical activity, more evident in the women and for Bulgaria this percent is higher (95%). The role and effect of categorized physical exercises for mobility, flexibility, and stretching, aerobic and anaerobic movements have been pointed out. Moreover, the review discusses the preventive effects of rehabilitation, including psychological ones and the role of it in helping patients live with socially significant diseases, coping with disability. The contribution of physical activity and rehabilitation as protective factors of non-infectious diseases is associated with good mental health, improved quality of life and well-being. Within this meaning, while contemporary medicine adds years to life, physical activity and mostly rehabilitation is a significant reason for adding a meaningful life in the course of aging and old age.


2021 ◽  
Vol 48 (4) ◽  
pp. 28-32
Author(s):  
E. Mermeklieva ◽  
P. Vasileva

Abstract Aim: To present a rare clinical case of X-linked retinoschisis, confirmed clinically, electrophysiologically and genetically. Material and methods: A 12-year-old boy underwent detailed ophthalmic examination including fundus photography, full-field, multifocal and pattern electroretinography, visual field testing, optical coherence tomography, which established the clinical diagnosis, confirmed also genetically. Results: The clinical findings included a slight loss of vision, central and paracentral scotomas, a characteristic spoke-wheel pattern appearance of the macula in fundoscopy and the pathognomic appearance of splitting of the retinal layers in the macula with foveal schisis with cystic spaces on OCT. Reduced cone and rod ERG responds were detected with the characteristic decreasing of b-ware near the isoelectric line. The genetic analysis found that the patient was hemizygous for the missense mutation c.598G>A (p.Arg200Cys) of RS1 gene, coming from his asymptomatic mother. Conclusion: The comprehensive clinical, electrophysiological and genetic testing of patients with rare hereditary retinal dystrophies is essential for the correct diagnosis and the choice of therapeutic approach.


2021 ◽  
Vol 48 (4) ◽  
pp. 69-72
Author(s):  
S. Xharra ◽  
E. Behluli ◽  
A. Moder ◽  
H. Nefic ◽  
R. Hadziselimovic ◽  
...  

Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.


2021 ◽  
Vol 48 (4) ◽  
pp. 9-14
Author(s):  
V. Marinov ◽  
M. Tzaneva ◽  
M. Zhelyazkova-Savova ◽  
S. Gancheva ◽  
St. Valcheva-Kuzmanova

Abstract Introduction: Trinitrobenzenesulfonic acid (TNBS)-induced experimental colitis in animals is a commonly used model of inflammatory bowel disease (IBD). Eugenol (Eug) is a natural phenolic compound possessing promising antioxidant and anti-inflammatory therapeutic properties. Aim: The present study investigated the effects of Eug in a TNBS-induced rat colitis model using criteria for histopathological evaluation of the colonic damage. Materials and methods: Male Wistar rats were divided into 6 experimental groups, each of 10 rats: Control, TNBS, TNBS+Eug1, TNBS+Eug5, TNBS+Eug25, and TNBS+Eug125 group. Eug or the solvent (sunflower oil) was applied orally using an orogastric cannula. The control group and TNBS group were treated only with sunflower oil. Eug groups were treated with corresponding doses of Eug (1, 5, 25 and 125 mg/kg) dissolved in sunflower oil. Colitis was induced by the application of TNBS in the colon. The animal treatment began 6 days before the colitis induction and continued for 8 days after it. At the end of the experiment, colitis severity was evaluated histopathologically regarding epithelium injury, inflammatory cell infiltration, and formation of granulation tissue. Results: In all TNBS+Eug groups, the formation of granulation tissue was enhanced compared to TNBS. In group TNBS+Eug125 the difference was significant compared to the control group (p < 0.05). No significant improvement regarding the scores of epithelium injury and inflammatory cell infiltration was observed in Eug groups compared to TNBS group. Conclusion: Eug did not improve the signs of TNBS-induced epithelial injury and inflammatory cell infiltration, but stimulated the formation of granulation tissue which might be considered as a sign of healing.


2021 ◽  
Vol 48 (4) ◽  
pp. 5-8
Author(s):  
V. Velev ◽  
M. Pavlova ◽  
E. Alexandrova ◽  
M. Popov ◽  
I. R. Ivanov

Abstract Introduction. Escherichia coli is a common cause of acute diarrhea mainly in young children and, less frequently, in elderly or immunosuppressed patients. Many types of E. coli are part of the normal enteric flora, but can cause urinary tract or nervous system infections. Objective. To study the prevalence of the main types and serogroups of diarrheagenic E. coli among hospitalized children with enteric infections. Material and methods. Over a period of 5 years, 1,160 hospitalized children with acute diarrhea syndrome were studied. Fecal samples underwent culturing, biochemical and phenotypic identification. Results. Among the studied patients, 112/1,160 children (9.7%) had diarrhea caused by E. coli, and only 4 of the isolates were lactose-negative. The most common was diarrhea caused by ETEC – 65/112 (58.0%), followed by EPEC – 38/112 (33.9%), and in third place – EHES 9/112 (8.0%). We did not isolate EIEC types. Depending on the group of E. coli, we observed some differences in the clinical presentation and specifics in the distribution of patients by age. Conclusion. The study shows that this causative agent is common among Bulgarian children with diarrhea. Unfortunately, in Bulgaria the microbiological network is still not able to adequately respond to the challenges of the extended serodiagnosis for detection of diarrheagenic E. coli, which is performed in Western Europe and North America.


2021 ◽  
Vol 48 (4) ◽  
pp. 57-61
Author(s):  
H. J. Koch

Abstract The human genome consists of roughly 23000 genes which cannot explain the enormous diversity of proteins or behavior. A second epigenetic code warrants adaptive variation of gene expression. The rationale of this variation are transfer reactions such as methylation, acetylation or phosphorylation of DNA or histones including reverse reactions which are supposed to be altered by electroconvulsive therapy (ECT). The method has been successfully used since the 1930ies but the underlying molecular mechanism of action has not been elucidated yet. The paper discusses the theoretical involvement of epigenetic gene expression as an adaptive process to explain biochemical changes after ECT administration.


2021 ◽  
Vol 48 (4) ◽  
pp. 23-27
Author(s):  
V. Gandileva ◽  
P. Makaveeva ◽  
D. Tabakova ◽  
T. Valerieva ◽  
I. Simova ◽  
...  

Abstract Congenital extrahepatic portosystemic shunts (ECPSS) are rare developmental anomalies in which a variable portion of the portal blood bypasses the liver and is shunted in the systemic circulation via one or more aberrant vessels. We present a clinical case of a 70-year-old man, who was referred to the Cardiology Department because of exertional dyspnea, fatigue, and feeling of heaviness and pressure behind the sternum. MDCT of the aorta was performed and an aberrant vessel was discovered with communication with the left iliac vein on one side and superior mesenteric and splenic veins on the other. The portal vein was hypoplastic. The radiologic findings were suggestive of malformation of Abernethy. The ECPSS can be classified into 2 main groups (with complete and partial shunting). The patients have different clinical presentation. Some of them are completely asymptomatic while in others the shunt can manifest even before birth as fetal growth retardation or in the early neonatal period with neonatal cholestasis and galactosemia. Common complications are hepatic encephalopathy and hepatopulmonary syndrome and there is a wide variety of concomitant abnormalities. The imaging modalities play a crucial role in the diagnosis, classification, follow-up and the proper choice of therapeutic management in patients with ECPSS.


2021 ◽  
Vol 48 (4) ◽  
pp. 33-42
Author(s):  
S. Simeonova ◽  
R. Nikolova

Abstract The importance of the dominant psychological and physiological aspects of occupational stress models is a significant topic for researchers working in the field of medicine. Modern society faces significant problems in the detection and management of stress due to its growing impact on the functional state of working individuals. Ensuring safe and healthy working conditions is necessary to deal with the adverse effects of occupational stress on health. Controlling and reducing stress is possible by revealing the causal psychophysiological links in the mechanisms of work-related stress. Scientifically based stress management is based on the categories and concepts underlying occupational stress models. Modern work-related models of stress describe and study not only the adverse characteristics of the work process, but also the factors that stimulate the health and well-being of the individual. Monitoring occupational stress is part of the process of neutralizing and eliminating it. In today’s dynamic world, it is not enough to expect only quality performance of the professional duties of employees, but the commitment of managers working in the field of health care is needed to analyse and manage the dominant psychological and physiological aspects of occupational stress models and prevent adverse aspects of models of this type of stress at work.


2021 ◽  
Vol 48 (4) ◽  
pp. 43-49
Author(s):  
D. Nikolova

Abstract Recent advances in molecular genetics and the invention of new technologies led to a development in our knowledge about human microbiota, specifically bacterial one. The microbiota plays a fundamental role in the immunologic, hormonal and metabolic homeostasis of the host. After the initiation of the Human Microbiome Project, it became clear that the human microbiota consists of the 10-100 trillion symbiotic microbial cells harbored by each person, primarily bacteria in the gut, but also in other spots as the skin, mouth, nose, and vagina. Despite of the differences in studying bacterial species, decreased bacterial diversity and persistence has been connected with several diverse human diseases primarily diabetes, IBD (inflammatory bowel disease) and others; attempts were made even to explain psychiatric pathology. Several species emerged as dominant and were clearly linked to certain disorders or accepted as biomarkers of others. The current review aims to discuss key issues of our current knowledge about bacteria in human, the difficulties and methods of its analysis, its contribution to human health and responsibility for human diseases.


2021 ◽  
Vol 48 (4) ◽  
pp. 15-22
Author(s):  
S. Shakeri ◽  
M. R. Javan ◽  
H. Ayatollahi ◽  
M. Salehi ◽  
A. Bari ◽  
...  

Abstract Background: Conventional cytogenetic is one of the most important diagnostic tools for predicting the overall survival of the patients. Molecular genetics in acute myeloid leukemia (AML) has provided insights into the molecular mechanism of leukemogenesis. In this study we aimed to investigate the impact of cytogenetic and molecular methods on the survival of patients with de novo established AML in order to achieve a useful marker or test in the process of predicting the disease course. Material and methods: Eighty newly diagnosed AML patients who were treatment naive entered the study. Cytogenetic and molecular studies such as, the conventional karyotyping, sequencing and reverse transcriptase real time quantitative PCR (RT-qPCR) were included. Overall survival was calculated by Kaplan-Maier technique and the data were analyzed by SPSS.V.19. Results: Among 80 patients, 36 (45%) were female and 44 (55%) were male patients. Patients’ median age was 29 years, ranging from 1 to 76 years. The mean overall survival was 19 months (95% CI: 1523 months). The 1-year AML survival rate was 61%. There were significant differences in overall survival between the NPM1-mutated groups compared to the patients without any mutations (19% versus 61%) (p < 0.032). Conclusion: This study makes a significant contribution in assessing the prognostic value of cytogenetic and molecular markers. This study showed the heterogeneity of de novo AML that involved various factors and prevalence of distinct cytogenetic subgroups. Our data in comparison with other population-based studies, confirmed a differential distribution of cytogenetic and molecular classification indicating geographic heterogeneity.


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