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Surgical Treatment of Adults with Uncorrected Tetralogy of Fallot: A Clinical Case Series 成人未矫正法洛四联症的手术治疗:临床病例系列
Q4 Medicine Pub Date : 2022-04-01 DOI: 10.2478/amb-2022-0008
V. Petrova, D. Petrova, V. Kornovski, T. Vekov, V. Danov
Abstract The tetralogy of Fallot is the most common form of cyanotic congenital heart malformations. However, its association with Down syndrome is uncommon. We present two patients with uncorrected during childhood tetralogy of Fallot. One of them had also Down syndrome. We performed a complete surgical correction: closure of the inter-ventricular defect, right ventricular outflow tract reconstruction, pulmonary valve prosthesis and pulmonary artery patch repair (in one of the cases). The postoperative period was uncomplicated, patients were discharged on days 12 and 10, and the follow-up showed a significant functional class improvement.
摘要法洛四联症是最常见的发绀型先天性心脏畸形。然而,它与唐氏综合症的关联并不常见。我们报告两名儿童期未经矫正的法洛四联症患者。其中一人还患有唐氏综合症。我们进行了完整的手术矫正:关闭心室间缺损,重建右心室流出道,人工肺动脉瓣和肺动脉补片修复(其中一例)。术后没有并发症,患者在第12天和第10天出院,随访显示功能级别有显著改善。
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引用次数: 0
Possible Hypothetical Mode of Action of ECT (Electroconvulsive Therapy) Based on DNA Dipole Character and Epigenetics 基于DNA偶极特性和表观遗传学的ECT(电惊厥治疗)可能的假设作用模式
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0049
H. 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.
人类基因组由大约23000个基因组成,这些基因无法解释蛋白质或行为的巨大多样性。第二种表观遗传密码保证了基因表达的适应性变异。这种变异的基本原理是DNA或组蛋白的甲基化、乙酰化或磷酸化等转移反应,包括通过电休克疗法(ECT)改变的逆反应。自20世纪30年代以来,这种方法已被成功地应用,但其潜在的分子作用机制尚未阐明。本文讨论了表观遗传基因表达作为一种适应性过程的理论参与,以解释电痉挛治疗后的生化变化。
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引用次数: 0
Association of X Chromosome Aberrations with Male Infertility X染色体畸变与男性不育的关系
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0051
S. Xharra, E. Behluli, A. Moder, H. Nefic, R. Hadziselimovic, G. Temaj
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.
摘要男性不育是由精子发生失败引起的,临床上称为少精或无精子症。大约20%的不孕症患者携带遗传缺陷。导致无精子症(或严重少精子症)最常见的遗传缺陷是Klinefelter综合征(47,XXY),这是一种数字染色体异常和Y结构染色体畸变。人类的X染色体是所有染色体中最稳定的。X染色体装载着获得性的、快速进化的基因区域。X染色体实际上可能在男性不育和精子产生中起着至关重要的作用。这里我们将描述与男性不育相关的X染色体畸变。
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引用次数: 0
Significance of the Dominant Psychological and Physiological Aspects of the Occupational Stress Models 职业压力模型的主要心理和生理方面的意义
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0046
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.
摘要职业压力模型的主要心理和生理方面的重要性是医学领域研究人员的一个重要课题。由于压力对工作个体功能状态的影响越来越大,现代社会在压力的检测和管理方面面临着重大问题。为了应对职业压力对健康的不利影响,确保安全和健康的工作条件是必要的。通过揭示工作压力机制中的因果心理生理联系,控制和减轻压力是可能的。基于科学的压力管理是基于职业压力模型的类别和概念。现代与工作相关的压力模型不仅描述和研究了工作过程中的不利特征,而且还描述了刺激个人健康和幸福的因素。监测职业压力是中和和消除职业压力过程的一部分。在当今充满活力的世界里,仅仅期望员工的职业职责得到高质量的履行是不够的,但是,卫生保健领域的管理人员需要致力于分析和管理职业压力模型的主要心理和生理方面,并防止这种类型的压力模型在工作中产生不利影响。
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引用次数: 0
Current Trends in the Gene Therapy of Hematologic Disorders 血液病基因治疗的发展趋势
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0048
D. Nikolova
Abstract Recent advances in molecular genetics and the invention of new technologies led to an advance in the development of gene therapy. Gene therapy is used to correct defective genes in order to cure a disease or help the body better fight a disease. It works by restoring or modifying cellular functions through the introduction of a functional gene into the target cell. The concept of gene therapy is simple, but introducing it to routine clinical practice is not. The main concerns are related to some safety issues as well as to the problem that maintaining a stable and prolonged expression in target cells may not be easily achieved. In spite of the difficulties, gene therapy remains a hope for many hematological disorders that cannot be effectively treated so far. This article reviews the current status of gene therapy with a focus on hematological disorders. In addition, clinically applied approaches are presented through particular examples of approved gene therapy drugs.
分子遗传学的最新进展和新技术的发明推动了基因治疗的发展。基因治疗用于纠正有缺陷的基因,以治愈疾病或帮助身体更好地对抗疾病。它通过将功能基因引入靶细胞来恢复或改变细胞功能。基因治疗的概念很简单,但将其引入常规临床实践却并非如此。主要关注的问题与一些安全性问题以及在靶细胞中保持稳定和延长表达可能不容易实现的问题有关。尽管困难重重,但基因治疗仍然是许多迄今为止无法有效治疗的血液病的希望。本文综述了基因治疗的现状,重点是血液病。此外,通过批准的基因治疗药物的具体例子,介绍了临床应用的方法。
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引用次数: 0
Current Knowledge About the Implication of Bacterial Microbiota in Human Health and Disease 细菌微生物群在人类健康和疾病中的意义
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0047
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.
摘要分子遗传学的最新进展和新技术的发明使我们对人类微生物群,特别是细菌微生物群的了解有所发展。微生物群在宿主的免疫、激素和代谢稳态中发挥着重要作用。人类微生物组项目启动后,很明显,人类微生物群由每个人携带的10-100万亿共生微生物细胞组成,主要是肠道中的细菌,也包括皮肤、口腔、鼻子和阴道等其他部位的细菌。尽管在研究细菌种类方面存在差异,但细菌多样性和持久性的降低与几种不同的人类疾病有关,主要是糖尿病、炎症性肠病和其他疾病;甚至试图解释精神病理学。几个物种成为优势物种,并与某些疾病明显相关,或被接受为其他疾病的生物标志物。本综述旨在讨论我们目前对人类细菌的认识中的关键问题,分析细菌的困难和方法,它对人类健康的贡献以及对人类疾病的责任。
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引用次数: 0
Physical Activity and Rehabilitation – A Key to Healthy Aging 体育活动和康复-健康老龄化的关键
Q4 Medicine Pub Date : 2021-11-01 DOI: 10.2478/amb-2021-0050
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.
摘要建立了一种关于所谓“新的开始”的学说,即向退休后过渡,以充分体验可用的补偿准备金,并制定克服策略,反对和应对老年人仍然不常见的生活方式中的障碍。通过以综合格式概述体育活动的作用,在世界范围内成功地尝试了数据分类;四分之一的老年人身体活动不足,女性更为明显,保加利亚的这一比例更高(95%)。指出了分类体育锻炼在灵活性、柔韧性、拉伸、有氧和无氧运动中的作用和效果。此外,该综述还讨论了康复的预防效果,包括心理效果,以及康复在帮助患者应对社会重大疾病和残疾方面的作用。身体活动和康复作为非传染性疾病的保护因素,与良好的心理健康、提高生活质量和幸福感有关。在这个意义上,虽然现代医学增加了寿命,但体育活动和大部分康复是在衰老过程中增加有意义的生活的重要原因。
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引用次数: 0
Neurological Manifestations of Hospitalized Patients with Covid-19: A Case Series Study 新冠肺炎住院患者的神经学表现:病例系列研究
Q4 Medicine Pub Date : 2021-10-01 DOI: 10.2478/amb-2021-0035
M. Zamanian, A. Janbakhsh, F. Mansouri, B. Sayad, M. Afsharian, S. Vaziri, B. Mahdavian, Z. Afshar, R. Miladi, M. Shirvani, M. Noori, M. Salimi, A. Babazadeh, S. Ebrahimpour
Abstract There are some reports about the neurological manifestations and complications of COVID-19. We present neurological manifestations in 6 hospitalized patients with COVID-19. The patients presented with common symptoms of COVID-19 along with common findings from high-resolution computed tomography (HRCT) scan such as ground-glass opacities (GGOs). Though, RT-PCR testing of SARS-CoV-2 was negative for all 6 cases. In the current report, acute cerebrovascular diseases affected older patients, while dementia, seizure and encephalopathy affected younger ones. Three of the 6 patients had proven strokes based on their neuroimaging. Four of the 6 patients had high d-dimer levels. Two of the cases experienced convulsion. The third patient presented with typical symptoms and signs of neuroleptic malignant syndrome. The sixth case was interesting for transient dementia. Unfortunately, four out of six patients died. The recent case series report the association between neurological involvements and COVID-19 infection. Clinicians should be alert of the neurologic symptoms in the setting of COVID-19, which might even be the first presentations of this infection.
摘要目前有一些关于COVID-19的神经学表现和并发症的报道。我们报告了6例住院的COVID-19患者的神经学表现。患者表现出COVID-19的常见症状以及高分辨率计算机断层扫描(HRCT)的常见结果,如磨玻璃混浊(GGOs)。然而,所有6例病例的SARS-CoV-2 RT-PCR检测均为阴性。在目前的报告中,急性脑血管疾病影响老年人,而痴呆、癫痫和脑病影响年轻人。根据神经影像学检查,6名患者中有3名确诊为中风。6例患者中有4例d-二聚体水平高。其中两例出现抽搐。第三例患者表现出典型的抗精神病药恶性综合征的症状和体征。第六例是短暂性痴呆的有趣病例。不幸的是,6名患者中有4人死亡。最近的病例系列报告了神经系统受累与COVID-19感染之间的关联。临床医生应警惕COVID-19背景下的神经系统症状,这甚至可能是这种感染的首次表现。
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引用次数: 8
Complex Tibial Plateau Fractures Treated with a Hybrid External Fixator – Long Term Results 混合型外固定器治疗复杂胫骨平台骨折的远期疗效
Q4 Medicine Pub Date : 2021-10-01 DOI: 10.2478/amb-2021-0031
Y. Andonov
Abstract Introduction: High energy tibial plateau fractures represent a challenge because of the combined bone and soft tissue injury. The iatrogenic impact can further increase the likelihood for crippling complications. Less invasive treatment protocols have been developed to improve the results. Objective: We present the long-term results of limited internal fixation combined with a small wire external fixator. Patients and Methods: Fourteen patients were followed for at least 10 years. Initial and final functional results, complications and presence of joint degeneration were registered according to validated rating scores. Results: Of all patients included in the study, thirteen showed an excellent initial rating and one had an average result at baseline. 10 years later, eight patients still showed excellent grading results, four – good ones, one – average and one – poor results. Ten knees (71%) had osteoarthritis. Postphlebitic syndrome was diagnosed in two cases. Three knees showed medio-lateral instability, one showed a varus and one – a valgus deformity. Knee arthroplasty was performed in one case. Conclusion: The limited internal fixation combined with a hybrid ex fix can be considered as an alternative to the ORIF, especially when the soft tissues are severely compromised. Despite the inevitable joint degeneration, the associated overall morbidity is low and the long term function is quite satisfactory.
摘要简介:由于骨和软组织的联合损伤,高能胫骨平台骨折是一个挑战。医源性影响会进一步增加致残并发症的可能性。已经制定了微创治疗方案来改善结果。目的:我们介绍有限内固定结合小金属丝外固定器的长期疗效。患者和方法:对14例患者进行了至少10年的随访。根据经验证的评分记录最初和最终的功能结果、并发症和关节退行性变的存在。结果:在纳入研究的所有患者中,13名患者的初始评分良好,1名患者的基线评分平均。10年后,8名患者仍然表现出良好的分级结果,4名为良好,1名为一般,1名较差。10个膝盖(71%)患有骨关节炎。两例诊断为静脉炎后综合征。三个膝盖表现为内侧-外侧不稳定,一个表现为内翻,一个为外翻畸形。膝关节置换术1例。结论:有限内固定结合混合外固定可作为ORIF的替代方案,尤其是在软组织严重受损的情况下。尽管不可避免地会出现关节退行性变,但相关的总体发病率较低,长期功能也相当令人满意。
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引用次数: 0
DISHphagia – A Riddle Unwrapped a Clinical Case with Literature Review 一个疑难杂症的临床案例,并附文献复习
Q4 Medicine Pub Date : 2021-10-01 DOI: 10.2478/amb-2021-0032
H. Valkov, M. Kovacheva-Slavova, I. Lyutakov, T. Angelov, P. Getsov, B. Vladimirov, P. Penchev
Abstract Diffuse idiopathic skeletal hyperostosis (DISH) is a common but underdiagnosed systemic skeletal disease. It is characterized by calcifications affecting mainly the spinal anterior longitudinal ligament. In the majority of cases, the patients are asymptomatic, but cervical osteophytes can sometimes cause hoarseness, dysphagia (DISHphagia) and even dyspnea. Case description: A 61-year-old man was admitted to our department with complaints of difficulty in swallowing and weight loss. Dysphagia had been increasing gradually for nine months. Barium swallow esophagram revealed asymmetric swallowing with expansion above the upper esophageal sphincter without other abnormalities. The extension was confirmed by esophago-gastro-duodenoscopy (EGD). Furthermore, CT scan of the thorax clearly demonstrated degenerative changes of the cervical and thoracic region, extensive ossification of the anterior longitudinal ligament, and osteophytes from C2-C7 with a forward displacement of the esophagus by 14 mm. The so-called “wax dripping down the candle” phenomenon was as well observed. Conclusion: DISH is a systematic, musculo-skeletal disease of older adults with unknown etiology. Dysphagia is the most common symptom of the disease and might be caused by osteophytes of the cervical region. We presented a case of DISH with a rare localization of the osteophytes in the cervical region C2-C7. Due to the increasing incidence of the Forestier’s syndrome and its associated “DISHphagia”, the gastroenterologist should increase the awareness of this underestimated disease and improve the diagnostic approach.
摘要弥漫性特发性骨骼增生症(DISH)是一种常见但诊断不足的系统性骨骼疾病。其特征是钙化主要影响脊柱前纵韧带。在大多数情况下,患者没有症状,但颈部骨赘有时会导致声音嘶哑、吞咽困难(DISHphagia),甚至呼吸困难。病例描述:一名61岁的男子因吞咽困难和体重减轻而住进我们的科室。吞咽困难在九个月内逐渐增加。钡咽食管造影显示吞咽不对称,食管上括约肌上方扩张,无其他异常。食管胃十二指肠镜检查(EGD)证实了扩张。此外,胸部的CT扫描清楚地显示了颈部和胸部的退行性变化、前纵韧带的广泛骨化以及C2-C7的骨赘,食道向前移位了14毫米。还观察到了所谓的“蜡滴蜡烛”现象。结论:DISH是一种系统性的老年人肌肉骨骼疾病,病因不明。吞咽困难是该病最常见的症状,可能由颈部骨赘引起。我们报告了一例DISH,罕见的颈部C2-C7区域骨赘定位。由于Forestier综合征及其相关的“DISHphagia”的发病率不断增加,胃肠病学家应该提高对这种被低估的疾病的认识,并改进诊断方法。
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引用次数: 0
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Acta Medica Bulgarica
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