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This paper describe a patient with a rare chromosomal aberration - a pure de novo subtelomeric 17p13.2-pter duplication. Despite known facial features, the proband presented with oculocutaneous albinism which has not been reported previously. The authors discuss in detail the genotype-phenotype correlations of the aberration as well as the possible molecular etiology of albinism apropos the mode of inheritance.

The authors summarize the facts and their clinical experience with omitting adjuvant radiotherapy in the early stages of breast cancer in elderly patients. Adjuvant radiotherapy is standard treatment after breast conserving surgery but in elderly patients the benefit of radiotherapy is unclear. The experience of the authors is that adjuvant radiotherapy may be safely omitted in older patients with low risk breast cancer.

Adaptation to hypoxia requires many genetic and biochemical responses that mutually regulate one another. Hypoxia-induced resistance is consequently very complex. The most studied factor responsible is hypoxia-inducible factor-1 (HIF-1) that significantly contributes to the aggressiveness and chemoresistance of various tumours. Also described are HIF-1 independent mechanisms of drug resistance in hypoxic tumours. Since hypoxia is closely associated with chemo- and radio resistance, different approaches have been developed to circumvent hypoxia-induced resistance.

This study relates to the current topic of imaging methods in supporting ablation of atrial fibrillation. From the literature, no prior study has compared the clinical outcomes of ablation procedures using 3D rotational angiography as a substitute for cardiac CT. The clinical results of this study demonstrate the utility of 3D rotation angiography as an adequate alternative to a commonly performed CT scan.

Adhesive interactions are vital for the persistence of both normal and malignant cells. Malignant cells trigger positive feedback loops causing adhesion molecule inflammatory overexpression. Disruption of adhesive interactions can overcome the high resistance to treatment and increase the selectivity of malignant cell targeting. Understanding adhesive interactions may underlie the basis of novel therapeutic approaches.

Accelerated atherosclerosis in systemic lupus erythematosus (SLE) is a serious cause of morbidity and mortality. This paper provides a comprehensive overview of the possible etiology of atherosclerosis in patients with SLE. Traditional risks factors (lifestyle, lipid spectrum, hypertension, diabetes), immunology profile, markers of endothelial dysfunction, intima media thickness, medication, disease activity and damage are covered. Subgroups with and without lupus nephritis are compared with a healthy population.

The article deals with peripartum cardiomyopathy, a relatively rare disease, which is very likely in our region underdiagnosed. Increased awareness of the disease should contribute to its detection. The authors describe their own experience with the diverse clinical course of the disease. When properly diagnosed and treated it has a very good prognosis, and vice versa unrecognized or improperly treated can have fatal consequences.

This paper evaluates fundamental aspects of electrical skin conductance as an objective parameter of measurements of pain perception in newborns, focusing on all gestational categories of newborns. It also describes the practical use of this method in daily routine practice in neonatal units. Measurement of parameters of electrical skin conductance is quick and non-invasive, does not affect significantly the staff or children and provides results immediately.

The MEDINA (MEtabolic parameters, DIabetes mellitus and NephropAthy) study compares angiotensin converting enzyme inhibitors (ACE-I) with angiotensin receptor blockers(ARB) in monotherapy and combined therapy with diuretic and/or a calcium-channel blocker (CCB) in 439 hypertensive patients with metabolic syndrome and/or diabetes mellitus. The blood pressure decrease difference between ACE-I and ARB was insignificant. Adding either hydrochlorothiazide or amlodipin was equally effective. There were no significant differences in metabolic parameters. The MEDINA trial has confirmed the equivalence of ACE-I and ARB in hypertension treatment and a combination with diuretics or CCB has an additive effect. Adding statins can further reduce the cardiovascular risk.

This is a review of recent data on the most widely-spread chromosomal rearrangements in human prostate carcinomas with focus on on the diagnostic, prognostic and therapeutic implications of the TMPRSS2-ERG gene fusion.

Gastric neuroendocrine neoplasms are to heterogeneous group of gastro-entero-pancreatic tumors characterized by lower malignant potential, rising incidence, and idiosyncratic biological tumor behavior. There are three types of gastric neuroendocrine neoplasms that distinctly differ in biological and clinicopathological characteristics, as well as in different management. The article provides an overview of neuroendocrine tumor classification, their clinical characteristics, histological findings, laboratory measurement, prognosis, and therapeutic strategy. The authors present the clinical features and treatment of twenty-five patients with gastric neuroendocrine neoplasms that were diagnosed and treated by them.

The aim of the review was to assess current uses of heart rate variability (HRV) in cardiac autonomic neuropathy (CAN) diagnosis with emphasis on proven methodological approaches and current views on the physiological interpretation and clinical uses of HRV methods. In clarifying controversial viewpoints on HRV, the paper supports its use in the routine diagnosis of neuropathic diseases.

We describe a novel approach to preparing reference materials containing rare gene variants using the technology of gene synthesis. Especially in cases of very low frequency alleles, the technique offers the possibility of obtaining test DNA specimens with different genotypes in a short time (several weeks). The synthetically prepared specimens could serve to shorten validation cycles, calibration procedures, and to ensure regular internal and/or inter-laboratory quality control in clinical labs. Lengths of inserted fragments (several hundreds of base pairs) would be optimal for most routinely used laboratory methods (allele specific PCR, real-time PCR, hybridization methods, amplicons sequencing, etc.). One example of G20210A mutation in the FII gene and FV G1691A mutation the authors describe is the commutability and stability of synthetically prepared FII/FV reference materials with compound heterozygous genotype.

Background: Thyroid gland disturbances are the most common endocrine disorders in pregnancy. There are some particular recommendations for the investigation of women in risk groups, but no consensus guidelines for general screening exists at present in the Czech Republic. Aim: The aim of our study was to determine whether universally conducted screening of pregnant women would reveal a significant number thyropathies. Material and Methods: We examined 592 pregnant women for thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels and for autoantibodies against thyroperoxidase (antiTPO) in the 6^th - 10^th week of their pregnancy. Results: Levels of TSH, fT4 or antiTPO beyond laboratory reference limits were found by gynaecologists in 214 women (36.1%) and 141 of whom (23.8%) underwent endocrinological examination. In the women without known risk factors (n=91) we found undiagnosed autoimmune thyroiditis in 20 cases (22 %) and in 7 cases (7.7%) some degree of subclinical hypothyroidism was confirmed. Finally, 18 (19.8%) women had hypothyroxinemia in the 1^st trimester (fT4 average 8.76 pmol/L) with normal TSH levels. Altogether, a total of 45 women were succesfully identified (49.5% of the endocrinologically examined group without risk factors, i.e. 7.6% of the whole screened group) who warranted monitoring. Of 73 women (12.3%) who underwent screening and, despite recommendation, did not undergo endocrinological examination, there were 55 cases (9.3% of the screened group) with positive levels of antiTPO and with elevation of TSH above the upper normal limit. Conclusions: Of 592 women in the 6^th - 10^th week of pregnancy who underwent thyropathy screening, we newly diagnosed 3.4% of women with autoimmune thyroiditis, 1.2% with subclinical hypothyroidism and 3% with hypotyroxinemia, for whom n o thyropathy risk factor had been evident. Thyropathies were identified in 7.6% of probands. We believe that our results support the importance of universal screening in pregnancy.

Training protocol based on neuromuscular electrical stimulation of leg muscles combined with standard type of exercise bicycle training, demonstrates significant beneficial effects on physical performance and quality of life in patients with moderate grade of chronic heart failure.

This article covers key information on the use of amino acids including how much in the context of nutritional support for ICU patients. It is a summary of the vital role of nutritional support. The research shows that inappropriate composition of amino acids and/or insufficient amounts contributes to malnutrition which may cause increased risk of morbidity and mortality in ICU settings.

Hematopoietic stem cells in combination with portal vein embolization provides new insight into the solution of primary unresectable colorectal liver metastases. The authors present a case report describing successful use of a novel method.

Laser induced arteriolar constriction used in early phase of branch retinal vein occlusion (BRVO) brings significantly better visual results if compared with standard grid photocoagulation. This study proved that initial visual acuity (VA) is a strong and independent prognostic factor; initial VA ≤ 0.1 and age over 70 years are strong predictors for poor final VA. Prognostically unfavorable BRVO is defined as an occlusion with an initial VA ≤ 0.25 and these BRVOs should be treated as soon as possible.

Early recanalisation of the occluded cerebral artery in acute ischemic stroke patients.plays a major role in improvement Treatment with intravenous thrombolysis is associated with high probability of poor outcome with low recanalization rates. Intraarterial thrombolysis may be more effective but treatment can be delayed by catheterization. The combination of IV and IA thrombolysis allows faster start of thrombolysis using the IV route and higher recanalization rate using the intraarterial approach. This article reports the safety and efficacy of combined IV + IA thrombolysis compared to IV thrombolysis alone in acute ischemic stroke patients with occluded middle cerebral artery.

A unique clinical study investigating the effects of preferential COX-2 in the treatment of exudative age-related macular degeneration. The results suggest a possible neuroprotective effect of COX-2

In patients with proven unilateral overproduction of aldosterone, adrenalectomy can cure the hyperaldosteronism with a high probability and a positive effect on hypertension. The main aim of this retrospective study was to determine the effects of unilateral adrenalectomy on blood pressure and laboratory parameters in a cohort of 51 patients. Unilateral adrenalectomy had a positive effect in 82% of the patients and led to either blood pressure normalization or reduction of the antihypertensive medication. This study demonstrated a better effect of surgery on blood pressure in younger patiens.

Background: Two consensus documents have appeared which revised the anatomical nomenclature of the venous system of the lower extremity. They changed and substantially extended the last valid version of the Latin anatomical nomenclature, Terminologia Anatomica, published by the Federative Committee on Anatomical Terminology, with approval of the International Federation of Associations of Anatomists, in 1998. The clinicians felt the need to adjust the terminology in order to better serve their purposes and to serve as a relevant theoretical base for correct diagnostic and appropriate treatment. First a consensus was made to expand and complete the nomenclature of the lower limb venous system during the 14th World Congress of the International Union of Phlebology in 2001. Another consensus was made again three years later, during 21st World Congress of the International Union of Angiology, under the auspices of Federative Committee on Anatomical Terminology and International Federation of Associations of Anatomists. Methods and results: The articles were compiled with the emphasis on the Latin terminology. Review of the original articles concerning the arrangement, variability and different nomenclature was performed thoroughly. The both documents comprise 89 terms of the veins of the lower extremity in both Latin and English. Conclusion: The clinicians, anatomists, and university teachers should follow the new extended anatomical nomenclature of the lower limb veins. The precise anatomical terminology can serve for diagnostic, treatment, and scientific purposes not only in the anatomy and angiology.

Background: We studied the effect of iron deficiency on liver regeneration and innate immunity - respiratory burst of PMN. Methods: Wistar rats, males (M) and females (F) had sham withdrawals or males (M-w) and females (F-w) had nine blood withdrawals every week. All rats were sacrificed in 10^th week after 67% hepatectomy (PH) after ³H-thymidin application. We determined erythrocyte and leukocyte count, respiratory burst (RB), serum prohepcidin, estradiol, iron, iron binding capacity (TIBC) and liver iron stores. Results: Liver DNA synthesis in M-w and F-w increased versus M and F (p=0.05). Serum prohepcidin after PH decreased in M, F (p=0.001) and F-w (p=0.05), but not in M-w. Blood withdrawals increased spontaneous RB (p<0.05), stimulated RB at females (p<0.01). Stimulated RB was lower in M-w then in M (p<0.01). Serum iron was lower in males than in females, but higher in rats with withdrawals than in rats without withdrawals. TIBC decreased after PH in M, F, F-w groups (p<0.001), less at M-w (p<0.05). Liver iron stores decreased in M, less in F. Conclusions: Both genders with blood withdrawals had early beginning of liver regeneration after PH. The preconditioning (withdrawals) leads to increase in iron turnover and stores following best reactivity of PMN, rapid decrease in serum prohepcidin, and early initiation of liver regeneration, mainly in females. We assume, the females have higher iron turnover, liver iron stores more easily mobilized for blood losses, because next gravidity physio logically begin immediately after birth. Simply transfer of experimental results to human medicine is difficult.

Aim: The aim of this study was to assess accuracy of echocardiography in the measurement of left ventricular ejection fraction (LVEF), enddiastolic volume (EDV) and endsystolic volume (ESV) compared with gated SPECT. Methods: A total of 70 patients with left ventricular systolic dysfunction were enrolled to study. Median of the time interval between gated SPECT and echocardiography was 1 hour. Results: Echocardiography was in good agreement with gated SPECT for quantification of LVEF by using Simpson's method in triplane (r=0.88, p<0.001), biplane (r=0.83, p<0.001) and monoplane apical four chamber projections (A4CH) (r=0.71, p<0,001). LVEF measured by SPECT (36.6±11.5%) was non-significantly higher then triplane (35.9±10%, median dif. 0.4%), biplane (35.7±10%, median dif. 0.7%), A4CH monoplane (36.6±12.2%, median dif. 0.1%). Echocardiography correlated with SPECT in quantification of EDV using triplane (r=0.8, p<0.001), biplane (r=0.81, p<0.001) and monoplane echocardiography (r=0.76, p<0.001). EDV measured by SPECT (201.1±72.5 ml) was significantly different and higher then triplane (174.4,5±60.8 ml, median dif. 22.8), biplane (170.9±58.4, median dif. 28 ml) and monoplane echocardiography (173.7±59.3, median dif. 85.7 ml). Echocardiography correlated with SPECT in quantification of ESV by triplane (r=0.87, p<0.001), biplane (r=0.86, p<0.001) and monoplane echocardiography (r=0.83, p<0.001). ESV measured by SPECT (133.1±64.3) was significantly different then triplane (115.1±52.1, median dif. 17 ml), biplane (113.2±51.5, median dif. 15.5 ml) and A4CH monoplane echocardiography (112.5±48.8, median dif. 17.2 ml). Conclusion: Echocardiography is a valid tool for LVEF assessment and systematically underestimates LV volumes compared with gated SPECT in patients with LV systolic dysfunction.

Background: The prevailing recommendation for the elderly is to live in their own homes as long as conditions allow. With this emphasis on the natural living environment, it is imperative to closely monitor both the general health and nutritional needs of the elderly in community settings. Aim: The aim of the study was to compare three nutritional status screening and evaluation tools of the elderly in their homes. Methods: Testing of measuring instruments, MNA, SGA, and MUST took place in the homes of 120 seniors in selected areas of the Czech and Slovak Republics. The study included 120 seniors. For testing of the relationships and dependencies, Pearson's correlation coefficient, t and Fisher tests were used. The level of statistical significance was α = 0.05. Results: All tests were to a large degree correlated (p_MNA = 0.0049; p_MUST = -0.537; p_SGA = -0.578) with the body mass index of the seniors. Simultaneously, it was confirmed that the tools for assessing nutritional status in the study showed significant differences regarding the classification of patients at risk of malnutrition and/or malnourished patients. Conclusions: Based on the findings, we conclude that MNA appeared to be a more appropriate tool for nutritional assessment of the elderly living in their homes. SGA and MUST provided rather subjective evaluation of the nutritional status and did not furnish an in-depth categorization of malnutrition.

Aims: There are currently limited data about whether the effect of spironolactone in patients with resistant arterial hypertension depends on baseline blood pressure and the presence of a secondary cause of hypertension. Methods: Patients with office systolic blood pressure (BP) >140 mmHg or diastolic BP >90 mmHg, despite treatment with at least 3 antihypertensive drugs including a diuretic, were randomly assigned to receive spironolactone or a placebo for 8 weeks in a double-blind, placebo-controlled, multicentre trial (ASPIRANT). Results: Analyses were done with 55 patients treated with spironolactone. The degree of BP reduction after 8 weeks of spironolactone treatment did not differ significantly between the three tertiles of baseline systolic BP and patients with and without a secondary cause of hypertension. The reduction of office systolic, office diastolic BP and office pulse pressure was significantly lower in the highest tertile with baseline diastolic BP > 97 mmHg. Conclusions: Spironolactone treatment is effective to a similar extent both in patients with and without a secondary cause of hypertension and regardless of the baseline value of systolic BP. Less effect of spironolactone was found in patients with the highest baseline diastolic BP.

Aims: To analyze the paced QRS duration in various septal positions of the right ventricular leads and with different paced QRS vectors. To use the results to assess parameters suggesting the optimal site for right ventricular pacing. Methods and Results: A total of 609 patients with leads implanted in the right ventricular septum were classified using fluoroscopy in the lateral view (the primary pacing site), and in the anteroposterior view (the secondary pacing site), according to the QRS vector in leads I and III. Significantly shortened paced QRS was found in the primary pacing site with the true septal compared with the anteroseptal site, with the vector being negative or isoelectric in lead I plus positive in lead III. In secondary pacing sites, no significant difference in pacing QRS duration was found between RVOT-HS, RVOT-LS, mid-septum and inferior-septum. Conclusions: For optimization of the pacing site in the ventricular septum, the following are significant: the primary site based on the lateral view, and the paced QRS vector in leads I and III.

Aims: To explore the feasibility of subcutaneous continuous glucose monitoring (CGM) in perioperative settings and to evaluate the perioperative development of glycaemia in persons with diabetes mellitus or impaired glucose tolerance by means of CGM. Methods: Monitoring by means of GuardianŸ REAL-Time CGMS (Medtronic, Nortridge, USA) in 20 perioperative periods. Sensor was inserted on the day before surgery and continued for 3 days with some exceptions. Results: Full implementation of the method was successful in the intensive care unit setting only. No electromagnetic interference and no side effects were found. The Wilcoxon signed-rank test revealed no significant difference between sensor and laboratory analyser values. Pearson´s correlation coefficients of the values obtained by sensor and the Wellion Linus glucometer were 0.875 for the whole perioperative period, 0.866 for the intraoperative period and 0.903 for the first perioperative day. A decline in sensor accuracy on the 6^th day was registered in one case. 16 monitored cases (80%) did not meet the criteria for safe plasma glucose range. Hypoglycaemia was found in 4 (20%) cases. There was an association between grade of the perioperative dysglycaemia and need for reoperation within the next 3 months. The most frequent perioperative glycaemic patterns are demonstrated. Conclusion: Subcutaneous CGM is safe offering detailed insight into glucose homeostasis in the dynamic perioperative period. Laboratory confirmation of sensor plasma glucose concentration by approved laboratory analyser is still necessary. The potentional benefits of maintaining patients within a safe glucose range should be comfirmed by future studies.

Introduction: Breast conserving surgery combined with sentinel node biopsy represents currently the gold standard of treatment for early breast cancer. Although breast conserving surgery has been a widely accepted method for many years, there remain some highly controversial unresolved issues. The present analysis focused on the resection margin as one of the key factors for local control of the disease. Methods: Patient disease free survival and overall survival were collected from patients undergoing breast conserving surgery from 2004 to 2009 at the Department of Surgery Atlas hospital Zlin, Czech Republic. All patients with resection margin less then 5 mm were re-resected to achieve this clear resection margin of 5mm or more. Disease free survival (more specifically local relapse free survival, metastasis free survival and regional free survival) and overall survival were assessed. Results: The data on 330 patients were analyzed and 286/330 cases had complete follow-up. After a median follow-up of 70 months, 7 patients with isolated local relapse were identified (2.44%), 13 patients with distant metastasis without local relapse (4.54%) and 2 patients with relapse in the axilla without local relapse in the breast (0.7%). Conclusion: The final decision about the extent of resection margin remains controversial but based on the data on local control presented here it seems reasonable to increase the criteria for a clear resection margin to 5 mm.

Objective: The aim of the survey was to identify the needs of mothers to infants hospitalized in intensive care units (ICUs) and second, to assess the level of parental support provided by the health personnel. Methods: The sample consisted of 147 mothers to infants hospitalized in ICUs. The research was conducted over six months in ICUs for newborns at two hospitals in Ostrava. The study used two standardized questionnaires: The parental stressor questionnaire scale: Neonatal Intensive Care Unit which measures the degree of stress in parents of hospitalized infants and the questionnaire The Nurse Parent Support Tool which evaluates the level of parental support provided by nursing staff. Results: The highest level of stress was identified in the parental role. Specifically, the inability to help the child remain separate from the mother, a feeling of helplessness and inability to protect the child from painful procedures and the inability to feed her baby. Mothers evaluated the support of nursing staff in most of these areas as high. Top were rated the ability of the caring staff to respond well to the questions of parents and the mother's willingness to engage in childcare. Conclusion: Intensive care units for the newborn obviously need to be family-centered care and at the same time they must be aware of all the factors that can be sources of stress for the parents.Only in this way can stress be eliminated with positive impact on the relationship between mother and child.