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Medicina, Volume 54, Issue 3 (July 2018)

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Open AccessArticle Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease
Received: 14 May 2018 / Revised: 6 June 2018 / Accepted: 14 June 2018 / Published: 19 June 2018
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Abstract
Background and objective: Congenital heart disease (CHD) is the most common birth abnormality in the structure or function of the heart that affects approximately 1% of all newborns. Despite its prevalence and clinical importance, the etiology of CHD remains mainly unknown. Somatic
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Background and objective: Congenital heart disease (CHD) is the most common birth abnormality in the structure or function of the heart that affects approximately 1% of all newborns. Despite its prevalence and clinical importance, the etiology of CHD remains mainly unknown. Somatic and germline mutations in cardiac specific transcription factor genes have been identified as the factors responsible for various forms of CHD, particularly ventricular septal defects (VSDs), tetralogy of Fallot (TOF), and atrial septal defects (ASDs). p. NKX2.5 is a homeodomain protein that controls many of the physiological processes in cardiac development including specification and proliferation of cardiac precursors. The aim of our study was to evaluate the NKX2.5 gene mutations in sporadic pediatric patients with clinical diagnosis of congenital heart malformations. Materials and methods: In this study, we investigated mutations of the NKX2.5 gene’s coding region in 105 Iranian pediatric patients with non-familial CHD by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP) and direct sequencing. Results: We observed a total of four mutations, of which, two were novel DNA sequence variants in the coding region of exon 1 (c. 95 A > T and c. 93 A > T) and two others were previously reported as single-nucleotide polymorphisms (SNPs), namely rs72554028 (c. 2357 G > A) and rs3729753 (c. 606 G > C) in exon 2. Further, observed mutations are completely absent in normal healthy individuals (n = 92). Conclusion: These results suggest that NKX2.5 mutations are highly rare in CHD patients. However, in silico analysis proves that c.95 A > T missense mutation in NKX2.5 gene is probably pathogenic and may be contributing to the risk of sporadic CHD in the Iranian population. Full article
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Open AccessReview The Relationship between Vitamin D and Periodontal Pathology
Received: 20 March 2018 / Revised: 4 June 2018 / Accepted: 8 June 2018 / Published: 12 June 2018
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Abstract
Osteoporosis and periodontal diseases are common problems among the elderly population. Vitamin D is a secosteroid hormone that is either synthesized by human skin cells under the effect of UV radiation or consumed through diet. Deficiency in vitamin D leads to reduced bone
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Osteoporosis and periodontal diseases are common problems among the elderly population. Vitamin D is a secosteroid hormone that is either synthesized by human skin cells under the effect of UV radiation or consumed through diet. Deficiency in vitamin D leads to reduced bone mineral density, osteoporosis, the progression of periodontal diseases and causes resorption to occur in the jawbone. Sufficient intake of vitamin D can decrease the risk of gingivitis and chronic periodontitis, as it has been shown to have immunomodulatory, anti-inflammatory, antiproliferative effects and initiates cell apoptosis. In addition, vitamin D is also important for bone metabolism, alveolar bone resorption and preventing tooth loss. It increases antibacterial defense of gingival epithelial cells and decrease gingival inflammation, improves postoperative wound healing after periodontal surgery and is an important supplement used as prophylaxis in periodontology. This publication aims to update the recent advances, stress the clinical importance, and evaluate vitamin D in the prevention of periodontal diseases to reach a successful outcome of conservative and surgical treatment. An analysis of the literature shows that vitamin D plays a significant role in maintaining healthy periodontal and jaw bone tissues, alleviating inflammation processes, stimulating post-operative healing of periodontal tissues and the recovery of clinical parameters. However, further research is needed to clarify the required vitamin D concentration in plasma before starting periodontal treatment to achieve the best outcome. Full article
Open AccessArticle Incidence and Outcomes of Patients with Functionally Univentricular Heart Born in Latvia, 2007 to 2015
Received: 23 February 2018 / Revised: 5 June 2018 / Accepted: 7 June 2018 / Published: 11 June 2018
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Abstract
Background and Objectives: A functionally univentricular heart is the term used to describe congenital heart defects where it is impossible to restore two pumping chambers. These lesions are associated with high mortality, morbidity, and medical resource utilization. The aim of this study
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Background and Objectives: A functionally univentricular heart is the term used to describe congenital heart defects where it is impossible to restore two pumping chambers. These lesions are associated with high mortality, morbidity, and medical resource utilization. The aim of this study was to review incidence and outcomes of patients with a functionally univentricular heart at the only pediatric cardiac surgery center in Latvia. Methods: We performed a retrospective review of medical records of (i) all children with a functionally univentricular heart treated at the Clinic of Pediatric Cardiology and Cardiac Surgery, and (ii) all prenatally diagnosed cases of univentricular heart at Children’s Clinical University Hospital in Latvia. We reviewed data regarding children born from January 1, 2007, to December 31, 2015. The children’s cardiac anatomy and interventions were categorized in accordance with the International Pediatric and Congenital Cardiac Code (v3.3). Results: During the study period, 49 patients with a functionally univentricular heart were admitted to Children’s Clinical University Hospital with a corrected incidence of 0.69 per 1000 live births per year. There were 26 patients that had a hypoplastic left ventricle, and 22 patients that had a hypoplastic right ventricle, while one patient had an indeterminate ventricle. Thirty (61.2%) patients had died by the end of data collection. Twenty-one of the 30 deaths occurred before or immediately after stage I surgical palliation. Cumulative neonatal and 5-year survival of patients with a hypoplastic right ventricle was 81.8% and 63.6%, respectively; for patients with hypoplastic left ventricle—46.2% and 17.3%, respectively. Discussion: This is the first mid-term outcome study of patients with a univentricular heart in Latvia. The high mortality reflects the challenges of a small-volume, developing congenital cardiac surgery center. Data from this study will be used as a baseline for quality improvement. Full article
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Open AccessArticle Reliability of Ankle–Foot Complex Isokinetic Strength Assessment Using the Isomed 2000 Dynamometer
Received: 9 April 2018 / Revised: 30 May 2018 / Accepted: 1 June 2018 / Published: 4 June 2018
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Abstract
For quantifying muscle strength in clinical and research practice, establishing the reliability of measurements, specifically to the procedures used, is essential for credible findings. The objective was to establish the reliability of isokinetic measurement of ankle plantar and dorsal flexors (PF/DF) and invertors
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For quantifying muscle strength in clinical and research practice, establishing the reliability of measurements, specifically to the procedures used, is essential for credible findings. The objective was to establish the reliability of isokinetic measurement of ankle plantar and dorsal flexors (PF/DF) and invertors and evertors (INV/EV) on an IsoMed 2000 dynamometer. Twenty healthy subjects (10 males, 10 females, mean age: 23.1 ± 3.1 years) completed an isokinetic measurement session. The intraclass correlation coefficient (ICC) and standard error of measurement were assessed for peak torque and work of ankle PF/DF (concentric and eccentric) and INV/EV (concentric) for the preferred and nonpreferred limb. Standardized isokinetic measurements of reciprocal PF/DF and INV/EV muscle actions were associated with ICC ranging from 0.77 to 0.98 for the majority of observed parameters. The exception was work in the eccentric mode in the ankle DF and peak torque in the concentric mode in the ankle INV on the preferred limb, where ICC ranged from 0.64 to 0.71. The IsoMed 2000 isokinetic dynamometer can be reliably employed in future studies for reciprocal ankle PF/DF and INV/EV assessment in healthy adult subjects after implementation of a familiarization session. Full article
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Open AccessArticle Computational Fluid Dynamics as an Engineering Tool for the Reconstruction of Hemodynamics after Carotid Artery Stenosis Operation: A Case Study
Received: 3 April 2018 / Revised: 22 May 2018 / Accepted: 28 May 2018 / Published: 1 June 2018
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Abstract
Background and objectives: Brain ischemic stroke is caused by impaired or absolutely blocked blood flow into the brain regions. Despite the large number of possible origins, there is no general strategy for preventive treatment. In this paper, we aimed to predict the hemodynamics
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Background and objectives: Brain ischemic stroke is caused by impaired or absolutely blocked blood flow into the brain regions. Despite the large number of possible origins, there is no general strategy for preventive treatment. In this paper, we aimed to predict the hemodynamics in a patient who experienced a critical stenosis operation in the carotid artery. This is a unique study where we used medical data together with the computational fluid (CFD) technique not to plan the surgery, but to predict its outcome. Materials and Methods: AngioCT data and blood perfusion of brain tissue (CT-perfusion) together with CFD technique were applied for stroke formation reconstruction in different clinical conditions. With the use of self-made semiautomatic algorithm for image processing and 3DDoctror software, 3D-vascular geometries before and after surgical intervention were reconstructed. As the paper is focused on the analysis of stroke appearance, apparent stroke was simulated as higher and lower pressure values in the cranial part due to different outcomes of the surgical intervention. This allowed to investigate the influence of spatial configuration and pressure values on blood perfusion in the analyzed circulatory system. Results: Application of CFD simulations for blood flow reconstruction for clinical conditions in the circulatory system accomplished on average 98.5% and 98.7% accuracy for CFD results compared to US-Doppler before and after surgical intervention, respectively. Meanwhile, CFD results compared to CT-perfusion indicated an average 89.7% and 92.8% accuracy before and after surgical intervention, respectively. Thus, the CFD is a reliable approach for predicting the patient hemodynamics, as it was confirmed by postoperative data. Conclusions: Our study indicated that the application of CFD simulations for blood flow reconstruction for clinical conditions in circulatory system reached 98% and 90% accuracy for US-Doppler and CT-perfusion, respectively. Therefore, the proposed method might be used as a tool for reconstruction of specific patients’ hemodynamics after operation of critical stenosis in the carotid artery. However, further studies are necessary to confirm its usefulness in clinical practice. Full article
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Open AccessArticle Characterization and Comparison of Nutritional Intake between Preparatory and Competitive Phase of Highly Trained Athletes
Received: 18 February 2018 / Revised: 17 May 2018 / Accepted: 28 May 2018 / Published: 30 May 2018
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Abstract
Background and objective: For a high level athlete, it is essential to ensure optimal energy as well as macro- and micro-nutrient and fluid intakes, in order to improve their performance during training and competition. Protein intake should be 1.2–2.1 g/kg/d, whereas the requirements
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Background and objective: For a high level athlete, it is essential to ensure optimal energy as well as macro- and micro-nutrient and fluid intakes, in order to improve their performance during training and competition. Protein intake should be 1.2–2.1 g/kg/d, whereas the requirements for carbohydrate and fat intakes should be >5g/kg/d and 20–35% of energy, respectively. The micronutrient and fluid intakes in athletes were compared to the Dietary Reference Intake (DRI) and European Food Safety Authority (EFSA) recommendations, respectively. This study aimed to characterize and compare the nutritional habits of athletes at the preparatory and competitive phase, and to test if their nutritional intakes were in accordance with the recommendations. Materials and methods: A total of 276 professional athletes were assessed. To evaluate their nutritional intake, the athletes completed a 7 days food record. Under reporting was defined using a ratio of energy intake to basal metabolic rate (BMR) of 1.1. Body composition was assessed using dual energy X-ray absorptiometry (DXA). Results: Almost half (49%) of the athletes from the final sample reported lower measured intakes of carbohydrates and 27% reported a higher consumption of proteins than what was recommended. In both the preparatory and competitive phases, the micronutrients with a higher mismatch between the actual and recommended intakes were vitamins D and E, magnesium, folate, calcium, and zinc for both sexes, and iron intake for females. A large proportion of athletes reported a lower water intake. Compared to the recommendations, males reported a higher intake of carbohydrates, lipids, vitamins E, calcium, and magnesium (p <0.05) in the competitive phase, while females reported a lower ingestion of water, vitamins A and D, and calcium (p <0.05) in the preparatory phase. Conclusions: Overall, in the preparatory and competitive phases of the season, athletes reported a macro- and micro-nutrient intake below the recommendations, especially in the female athletic population. Dietary intakes in athletes need to be optimized and adjusted to their requirements, according to sex and sport, so as to avoid compromising health and performance. Full article
Open AccessReview Participation of Children with Spina Bifida: A Scoping Review Using the International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) as a Reference Framework
Received: 18 April 2018 / Revised: 21 May 2018 / Accepted: 23 May 2018 / Published: 30 May 2018
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Abstract
Background and objectives. Participation is a fundamental right of the child, regardless of his health status. Assessing and supporting the participation of children with spina bifida (SB) presents a significant challenge for practitioners. The purpose of this study was to examine what is
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Background and objectives. Participation is a fundamental right of the child, regardless of his health status. Assessing and supporting the participation of children with spina bifida (SB) presents a significant challenge for practitioners. The purpose of this study was to examine what is known about the participation of children with SB. Materials and Methods. The framework for scoping reviews from Arksey & O’Malley was used. A literature search in Cumulative Index to Nursing and Allied Health Literature (CINAHL), Medical Literature Analysis and Retrieval System Online (Medline), PsychINFO and the Education Resources Information Centre (ERIC) databases retrieved 136 papers, 10 of which met the criteria for inclusion and were selected for analysis. Synthesis of the results on participation within occupational domains of leisure, school and community, and factors influencing participation of children with SB was performed. Results. All the included studies were non-experimental and used cross-sectional, population-based or qualitative design. Most studies analysed social participation or participation in physical activities, except one that focused on school participation. Data from these studies have shown that children with SB experience greater participation restrictions compared to their typical peers or children with other chronic diseases. The participation was mainly affected by contextual factors. Relationships between pathology and participation were not sufficiently validated. Conclusions. There is little research on the participation of children with SB. Future studies must consider contextual factors and interventions facilitating or impeding participation. Full article
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Open AccessArticle Alteration of Androgen Receptor Protein Stability by Triptolide in LNCaP Cells
Received: 21 February 2018 / Revised: 29 April 2018 / Accepted: 28 May 2018 / Published: 30 May 2018
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Abstract
Background and Objective: Although triptolide was effective for prostate cancer (PCa), the mechanism is still unclear. Androgen receptor (AR) plays a large role in the development and progression of PCa, even after castration. The present study aimed at investigating the effects of triptolide
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Background and Objective: Although triptolide was effective for prostate cancer (PCa), the mechanism is still unclear. Androgen receptor (AR) plays a large role in the development and progression of PCa, even after castration. The present study aimed at investigating the effects of triptolide on AR protein stability and the possible mechanism. Materials and Methods: By blocking protein synthesis with cycloheximide (CHX), the effect of triptolide on AR protein stability was investigated with western blot assay. The potential role of calpains in triptolide reduced AR protein stability was investigated with calpain inhibitor and Ca2+ chelator. Results: Triptolide down-regulated AR protein level when protein synthesis was blocked by CHX, demonstrating the decrease of AR protein stability. The AR protein level was restored when the cells were co-treated with triptolide and calpain inhibitor or Ca2+ chelator, indicating the important role of calpains. Conclusions: The results indicate that triptolide can activate calpain via promoting intracellular Ca2+ accumulation, and thus decrease the stability of AR protein, subsequently resulting in the breakdown of the AR protein in LNCaP cells. This work provides an experimental basis and evidence to elucidate the anti-PCa mechanisms of triptolide. Full article
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Open AccessArticle Comparison of the Different Treatment Strategies for Patients with Rectus Sheath Haematoma
Received: 6 March 2018 / Revised: 24 May 2018 / Accepted: 25 May 2018 / Published: 30 May 2018
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Abstract
Background and objective: Rectus sheath haematoma (RSH) is an uncommon condition that may vary from contained haematoma to life-threatening bleeding. Timely diagnosis and treatment is crucial in this patient population. The aim of the current study was to investigate the results of
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Background and objective: Rectus sheath haematoma (RSH) is an uncommon condition that may vary from contained haematoma to life-threatening bleeding. Timely diagnosis and treatment is crucial in this patient population. The aim of the current study was to investigate the results of the different RSH treatment strategies among patients admitted to a surgery department. Materials and methods: A retrospective analysis of 29 patients treated for RSH in surgery departments of two medical centres from 1 January 2007 to 30 September 2017 was conducted. The patient’s age, sex, ASA (American Society of Anesthesiologists; physical status classification system), use of anticoagulants, cause of haematoma, radiological data, vital signs, blood investigations, and type of treatment were extracted. The results were analysed according to the type of treatment. Results: The patients’ mean age was 67.6 ± 14.3 years, and the mean duration of in-hospital stay was 10.7 ± 6.7 days. All patients were on anticoagulant treatment, and 82.8% of them had spontaneous haematoma. Nine patients (31%) needed transfusion of packed red blood cells with an average of 2.6 units (range: 1–4). Five patients (17.2%) presented with symptoms and signs of hypovolemic shock, and four of them underwent embolisation. Embolisation was successful in all cases. Open surgery was performed in 6 patients, 8 patients underwent percutaneous drainage, and 10 patients were treated conservatively. Two patients (6.7%) died in our series. Both of these patients had type III RSH. Patients in the conservatively treated group had the shortest hospital stay. There were no readmissions due to repeated haematoma or infection. Conclusions: Embolisation of epigastric arteries is a useful tool to stop bleeding into RSH in patients with unstable haemodynamics. Conservative treatment is comparable to ultrasound (US) drainage of RSH but results in a shorter hospital stay. Type III RSH is associated with a higher death rate. Full article
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Open AccessArticle The Clinical Importance of Cystatin C and Hepatic Artery Resistive Index in Liver Cirrhosis
Received: 26 February 2018 / Revised: 19 May 2018 / Accepted: 24 May 2018 / Published: 28 May 2018
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Abstract
Background: Data suggest cystatin C (CysC) levels and hepatic artery resistive index (HARI) correspond to the progression of chronic liver disease. We aimed to evaluate the clinical significance of these parameters in assessment of fibrosis in patients with liver cirrhosis. Methods: The cross-sectional
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Background: Data suggest cystatin C (CysC) levels and hepatic artery resistive index (HARI) correspond to the progression of chronic liver disease. We aimed to evaluate the clinical significance of these parameters in assessment of fibrosis in patients with liver cirrhosis. Methods: The cross-sectional study included 63 patients with liver cirrhosis. A control group consisted of 30 age- and gender-matched healthy persons. Results: We confirmed significantly higher values of CysC in patients with cirrhosis compared to control group (p = 0.036). Average value of HARI in the examined group was increased (0.72 ± 0.06) and there was the statistically significant difference compared to controls (0.66 ± 0.03) (p < 0.001). We found statistically significant correlation between HARI and CysC in the study group. Analyzing the possibility of distinguishing healthy subjects from patients with fibrosis, we have found that the area under the curve is far greater in the HARI index than CysC. Comparison of CysC among Child–Pugh stages and correlation with a model for end-stage liver disease (MELD) score showed statistically significant results. Conclusion: We confirmed HARI is a more accurate parameter than CysC in discriminating healthy subjects from patients with fibrosis, while CysC could be a better indicator of the stage of liver cirrhosis. Full article
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Open AccessReview Genetic Markers for Coronary Artery Disease
Received: 28 March 2018 / Revised: 18 May 2018 / Accepted: 22 May 2018 / Published: 28 May 2018
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Abstract
Coronary artery disease (CAD) and myocardial infarction (MI) are recognized as leading causes of mortality in developed countries. Although typically associated with behavioral risk factors, such as smoking, sedentary lifestyle, and poor dietary habits, such vascular phenotypes have also long been recognized as
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Coronary artery disease (CAD) and myocardial infarction (MI) are recognized as leading causes of mortality in developed countries. Although typically associated with behavioral risk factors, such as smoking, sedentary lifestyle, and poor dietary habits, such vascular phenotypes have also long been recognized as being related to genetic background. We review the currently available data concerning genetic markers for CAD in English and non-English articles with English abstracts published between 2003 and 2018. As genetic testing is increasingly available, it may be possible to identify adequate genetic markers representing the risk profile and to use them in a clinical setting. Full article
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Open AccessReview A Zebrafish Embryo as an Animal Model for the Treatment of Hyperpigmentation in Cosmetic Dermatology Medicine
Received: 24 March 2018 / Revised: 19 May 2018 / Accepted: 21 May 2018 / Published: 25 May 2018
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For years, clinical studies involving human volunteers and several known pre-clinical in vivo models (i.e., mice, guinea pigs) have demonstrated their reliability in evaluating the effectiveness of a number of depigmenting agents. Although these models have great advantages, they also suffer from several
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For years, clinical studies involving human volunteers and several known pre-clinical in vivo models (i.e., mice, guinea pigs) have demonstrated their reliability in evaluating the effectiveness of a number of depigmenting agents. Although these models have great advantages, they also suffer from several drawbacks, especially involving ethical issues regarding experimentation. At present, a new depigmenting model using zebrafish has been proposed and demonstrated. The application of this model for screening and studying the depigmenting activity of many bioactive compounds has been given great attention in genetics, medicinal chemistry and even the cosmetic industry. Depigmenting studies using this model have been recognized as noteworthy approaches to investigating the antimelanogenic activity of bioactive compounds in vivo. This article details the current knowledge of zebrafish pigmentation and its reliability as a model for the screening and development of depigmenting agents. Several methods to quantify the antimelanogenic activity of bioactive compounds in this model, such as phenotype-based screening, melanin content, tyrosinase inhibitory activity, other related proteins and transcription genes, are reviewed. Depigmenting activity of several bioactive compounds which have been reported towards this model are compared in terms of their molecular structure and possible mode of actions. This includes patented materials with regard to the application of zebrafish as a depigmenting model, in order to give an insight of its intellectual value. At the end of this article, some limitations are highlighted and several recommendations are suggested for improvement of future studies. Full article
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Open AccessArticle Risk Factors, Co-Morbidities and Treatment of In-Hospital Patients with Atrial Fibrillation in Bulgaria
Received: 25 March 2018 / Revised: 16 May 2018 / Accepted: 21 May 2018 / Published: 25 May 2018
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Background and objectives: Atrial fibrillation (AF) is the most common arrhythmia worldwide and a major risk factor for cardiovascular complications. Our study aimed to investigate the prevalence, risk factors, demographics, co-morbidities and treatment of AF among in-hospital Bulgarian patients. Materials and Methods: A
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Background and objectives: Atrial fibrillation (AF) is the most common arrhythmia worldwide and a major risk factor for cardiovascular complications. Our study aimed to investigate the prevalence, risk factors, demographics, co-morbidities and treatment of AF among in-hospital Bulgarian patients. Materials and Methods: A cross-sectional study including 1027 consecutive patients (n = 516, 50.2% males) with a mean age of 67.6 ± 11.3 years, hospitalized for any reason from 1 May until 31 December 2016 in one of the largest internal clinics in Bulgaria, was carried out. Results: Atrial fibrillation was diagnosed in 634 (61.7%) patients. The prevalence of modifiable AF risk factors was as follows: heart failure, 98.9%; arterial hypertension (HTN), 93.5%; valvular heart disease, 40.9%; chronic lung disease, 26.7%; type 2 diabetes mellitus, 24.9%; thyroid disease, 16.9%; and ischemic heart disease, 11.2%. Univariate logistic regression analysis identified the following risk factors with strongest impact on AF: left ventricular ejection fraction <40% (odds ratio (OR) = 1.951, 95% confidence interval (CI) 1.208–3.151), valvular heart disease (OR = 1.926, 95% CI 1.134–3.862), left ventricular ejection fraction 40–49% (OR = 1.743, 95% CI 1.248–3.017), HTN (OR = 1.653, 95% CI 1.092–3.458). History of ischemic stroke was present in 14.4% of the patients with AF. Oral antithrombotic drugs were prescribed to 85.7%: direct oral anticoagulants to 37.9%, vitamin K antagonists to 43.2%, and antiplatelets to 4.6%. Heart rate control medications and antiarrhythmics were prescribed to 75.4% and 40.2%, respectively. Conclusions: Atrial fibrillation was highly prevalent among our study population. Reduced and mid-range left ventricular ejection fraction, valvular heart disease, and HTN were the risk factors with the strongest association with AF. Although a large number of our AF patients were administered antithrombotic treatment, the prescription rate of oral anticoagulants should be further improved. Full article
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Open AccessArticle The Effect of Three Different Strategies Based on Motor Task Performance on Neuromuscular Fatigue in Healthy Men and Men with Multiple Sclerosis
Received: 18 March 2018 / Revised: 1 May 2018 / Accepted: 11 May 2018 / Published: 24 May 2018
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Abstract
Background and objectives: Fatigue during physical activity occurs because of decreased neuromuscular function. The aim of this study was to evaluate the effect of three different strategies based on motor task performance on neuromuscular fatigue in healthy men and men with multiple
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Background and objectives: Fatigue during physical activity occurs because of decreased neuromuscular function. The aim of this study was to evaluate the effect of three different strategies based on motor task performance on neuromuscular fatigue in healthy men and men with multiple sclerosis (MS). Materials and Methods: We studied age-matched (18–43 years of age) healthy men (n = 15) and men with MS (n = 9). The inclusion criteria for MS subjects were a Kurtzke Expanded Disability Status Score <4 and a Fatigue Severity Scale Score >5. Both groups performed one of three exercise trials (with at least a 1-week interval between them) of 100 intermittent isometric knee extensions with flexion of 60°. The three different experimental conditions (ECs) were intermittent isometric contraction tasks with constant, predictable, and unpredictable torque target sequences. The variation of maximal voluntary contraction contractions (MVCs) within the strategies was 25%, 50%, and 75%, with a set average of 50%. All of them had a 5 s contraction and a 20 s rest period. The variables were measured: before exercise, after 100 repetitions (100-Reps), and 1 h after exercise. Results: In all EC tasks, the central activation ratio values of healthy and MS subjects were significantly different; however, no significant differences were observed among the EC tasks. No significant differences were seen in electrically induced torque, MVC torque, muscle temperature, subjective sensation of effort, coefficient of variation, or constant and absolute error after 100-Reps and 1 h after exercise between the two groups and in all EC tasks. Conclusions: Men with MS experienced higher central motor fatigue than did healthy men, but this had no effect on the variability, accuracy, or force sensation of the movements performed. Full article
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Open AccessArticle Association of Monoamine Oxidase A (MAOA) Gene uVNTR and rs6323 Polymorphisms with Attention Deficit and Hyperactivity Disorder in Korean Children
Received: 18 February 2018 / Revised: 9 May 2018 / Accepted: 14 May 2018 / Published: 18 May 2018
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Abstract
Objective: Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. The genetic cause of ADHD is still unclear, but the dopaminergic, serotonergic, and noradrenergic pathways have shown a strong association. In particular, monoamine oxidase A (MAOA) plays an important role in
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Objective: Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. The genetic cause of ADHD is still unclear, but the dopaminergic, serotonergic, and noradrenergic pathways have shown a strong association. In particular, monoamine oxidase A (MAOA) plays an important role in the catabolism of these neurotransmitters, suggesting that the MAOA gene is associated with ADHD. Therefore, we evaluated the relationship between the MAOA gene polymorphisms (uVNTR and rs6323) and ADHD. Materials and methods: We collected a total of 472 Korean children (150 ADHD cases and 322 controls) using the Korean version of the Dupaul Attention Deficit Hyperactivity Disorder Rating Scales (K-ARS). Genotyping was performed by PCR and PCR-RFLP. The Behavior Assessment System for Children Second Edition (BASC-2) was used to evaluate the problem behaviors within ADHD children. Results: We observed significant associations between the rs6323 and ADHD in girls (p < 0.05) and the TT genotype was observed as a protective factor against ADHD in the recessive model (OR 0.31, 95% CI 0.100–0.950, p = 0.022). The 3.5R-G haplotype showed a significant association in ADHD boys (p = 0.043). The analysis of subtype also revealed that the 4.5R allele of uVNTR was a risk factor for the development of ADHD in the combined symptom among girls (OR 1.87, 95% CI 1.014–3.453, p = 0.031). In the BASC-2 analysis, the MAOA uVNTR polymorphism was associated with activities of daily living in ADHD boys (p = 0.017). Conclusion: These results suggest the importance of the MAOA gene polymorphisms in the development of ADHD in Korean children. A larger sample set and functional studies are required to further elucidate of our findings. Full article
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