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Hereditary telangiectasia is a congenital disease in which patients develop a characteristic enlargement of small capillaries on the skin and mucous membranes, called telangiectasia. With increasing age, telangiectasias often rupture and cause bleeding. If bleeding recurs too frequently, whether in the form of epistaxis, haemoptysis or gastrointestinal bleeding, patients develop anaemia, often leading to significant iron deficiency. Far more serious is the occurrence of arteriovenous malformations in parenchymatous organs, progressively increasing with increasing patient age. The lungs, stomach, liver and brain are most commonly affected. Bleeding from malformations in these localizations can be fatal and therefore early identification is important. Screening for arteriovenous malformations in the above-mentioned high-risk localizations is recommended not only for the patient himself but also for his family. Currently, the possibility of detecting causative mutations is also offered. Treatment should always be assessed on an individual basis. Sometimes only local therapy, haemostatic therapy or iron substitution is sufficient, other times systemic therapy is needed. [ABSTRACT FROM AUTHOR]

The aim of this paper is to report a less frequent cause of collapse associated with minimal clinical symptoms in an 18-year old female. Laboratory examinations revealed severe macrocytic anaemia (Hb 35 g/l, MCV 114 fl) with mild alteration of biochemical parameters. The differential diagnosis focused on a possible malabsorption syndrome, which was finally confirmed in the form of celiac disease. Dietary measures as well as substitution therapy lead to rapid normalization of laboratory parameters and an improvement in the patient's clinical condition. The aim of our paper is to draw attention to less frequent manifestations of celiac disease and to possible pitfalls of routine differential diagnosis of anaemia. [ABSTRACT FROM AUTHOR]

The following case report describes a 66-year-old woman who presented with abdominal pain and renal pelvis dilatation. Based on imaging methods, a primary urinary system tumor was suspected. However, targeted biopsy surprisingly revealed the presence of extramedullary multiple myeloma. The patient was then found to harbor a rare chromosomal aberration t (6; 22). [ABSTRACT FROM AUTHOR]

SUMMARY: Alcohol is used as a means of alleviating subjective symptoms of depression. Clinical practice suggests, however, that depression very often develops as a result of alcohol use. Severe forms of depression occur among 27% of alcohol users in treatment, while 40% of these patients experience minor depressive disorders. In addition to psychotherapy, psychopharmacotherapy is also used to treat depression. A wide range of pharmaceuticals are available, and some of them have been shown to be effective in treating the comorbidity of depression and alcohol use. The effects of these therapies are not immediate; they typically take several weeks. This case study is based on the experience of the outpatient addiction treatment clinic at the Department of Addictology of the First Faculty of Medicine of Charles University and the General University Hospital in Prague. It addresses a specific case of a 51-year-old client in treatment for alcohol dependency with comorbid depression. The aims of this paper are to describe the context of the case, as well as pointing out the inconsistency with which different addictological services approach comorbidities and pharmacotherapy. This is a major clinical issue which presents a great demand for interdisciplinary liaison and calls for the development of integrated procedures to be applied to clients with such conditions. [ABSTRACT FROM AUTHOR]

Multiple myeloma is a blood cancer characterized by proliferation of clonal plasma cells in the bone marrow and the presence of paraprotein in the serum and/or urine. In recent years, whole-body positron emission tomography (PET) imaging combined with computed tomography (PET/CT) has become a preferred imaging technique for diagnosis and treatment. It has the benefit of detecting metabolically active characteristic focuses and good detection of extramedullary and paramedullary lesions. The following text presents the collective opinion of the representatives of the Czech Society of Nuclear Medicine ČLS JEP z.s. (CSNM ČLS JEP) and the Czech Myeloma Group (CMG) on PET/CT as well as on its evaluation and reporting. The aim is to standardize the methodology of PET/CT examination across the Czech Republic, which will be clear and simple to understand. [ABSTRACT FROM AUTHOR]

Multiple myeloma is a blood cancer characterized by proliferation of clonal plasma cells in the bone marrow and the presence of paraprotein in the serum and/or urine. In recent years, whole-body positron emission tomography (PET) imaging combined with computed tomography (PET/CT) has become a preferred imaging technique for diagnosis and treatment. It has the benefit of detecting metabolically active characteristic focuses and good detection of extramedullary and para-medullary lesions. The following text presents the joint standpoint of the representatives of the Czech Society of Nuclear Medicine ČLS JEP (CSNM ČLS JEP) and the Czech Myeloma Group (CMG) regarding PET/CT examination per se as well as its evaluation and reporting. The aim is to standardize the methodology of PET/CT examination across the Czech Republic, which will be clear and simple to understand. [ABSTRACT FROM AUTHOR]

Introduction. Systemic AL amyloidosis is a rare illness in the group of monoclonal gammopathies. The disease is based on extracellular deposition of insoluble fibrils formed by complete monoclonal light immunoglobulin chains or their fragments, produced by clonal plasmocytes. Identification of the plasmocyte clone, or of its protein product - the monoclonal immunoglobulin (MIg) - represents a key aspect of diagnostics and monitoring of AL amyloidosis patients. Serum immunoglobulin free light chain (FLC) assay, routinely performed in the recent years, significantly widened the options for MIg analysis in monoclonal gammopathies. The subject of this report is practical experience with serum immunoglobulin free light chains assay in AL amyloidosis patients. Patients and Methods. The patient set comprised 19 patients with biopsy-verified systemic AL amyloidosis. Age median was 62 years of age (48-92 years of age), male to female ratio was 16 : 3, representation of secretion kappa : lambda was 3 : 16. Free light chains serum levels were determined by the FreeLiteTM system. Normal range of serum levels was 3.3-19.4 mg/l for light chain kappa (κ), and 5.7-26.3 mg/l for light chain lambda (λ). Mutual ratio of light chains kappa/lambda (the κ/λ index) was determined by a calculation with normal range 0.26-1.65, in case of renal insufficiency 0.37-3.1. Results. MIg serum levels were determined in 12 out of 18 (68%) patients, where the median level was 1.69 g/l (0-9.8 g/l). As for isotypes, there were 4 cases of complete isotype IgG (2x IgG-κ, 2x IgG-λ), 3 cases of IgA-λ, and one patient presented the isotype IgD-λ. Light chains λ only were found in the serum of 4 patients. Protein analysis of urine found excretion of Bence-Jones protein in 11 patients, in all cases in quantity over 200 mg/24 hours, while the presence of complete MIg molecules in the urine (1x IgA-λ, 1x IgG-λ) was additionally determined in 2 patients. Serum immunoglobulin free light chain assay determined abnormal levels in all patients with median value 399 mg/l (54.4-2 385 mg/l), while κ/λ index pathology was determined in 17 (90%) patients. Out of the 17 patients with abnormal FLC levels and concomitant κ/λ index pathology, 16 patients had dFLC levels > 50 mg/l (dFLC = difference between dominant and alternative FLC levels). Therefore, FLC assay enables regular monitoring of the disease in 16 out of 19 (84%) patients. Conclusion. Serum immunoglobulin free light chain assay currently represents a key laboratory parameter not only for diagnostics and monitoring of the course of the disease, but namely for treatment efficacy evaluation. A combination of standard MIg detection techniques with FLC level assay enables monitoring of a vast majority of AL amyloidosis patients. [ABSTRACT FROM AUTHOR]

The main goal was to find a simple prognostic to evaluate overall survival of patients older than 65 years of age with myeloma. Retrospective registry-based analysis from the Registry of Monoclonal Gammopathies was conducted. Patients over 65 years with symptomatic myeloma were included. The four major parameters with impact on survival were identified: male gender, age > 75, creatinine > 152 μmol/L, and ECOG performance status 2-4. The patients were scored as good (0 points), intermediate good (1 point), intermediate poor (2 points), poor (3-4 points). Patients (1410 MM) were included. Median OS (months) was 65.7 (95% CI 49.8-81.7) for good, 51.0 (44.1-57.8) for intermediate good, 32.2 (26.2-38.2) for intermediate poor, and 18.9 (15.1-22.7) for poor. The differences in OS were statistically significant (p < 0.0001). Good score was used as reference for hazard ratios, which for each other score were 1.43 (1.09-1.84) for intermediate good, 2.58 (2.00-3.33) for intermediate poor, and 3.88 (2.94-5.10) for poor. Time to progression showed medians (months) 20.5 (17.4-62.4) for good, 19.3 (17.0-21.7) for intermediate good, 19.6 (16.2-23.0) for intermediate poor, and 13.0 (10.8-15.2) for poor. The suggested scoring system provides readily available information about the prognosis of MM patients above 65 years. [ABSTRACT FROM AUTHOR]

The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy. [ABSTRACT FROM AUTHOR]

Introduction: Bone marrow microenvironment in relation to the infiltration of myeloma cells is characterized by a wide cytokine network and intercellular interactions. A number of biological parameters are playing important role of activation and proliferation factors. The aim of our study was to compare the relationship of serum levels of APRIL and BAFF molecules to selected biological indicators of multiple myeloma. Material and methods: The examined group consisted of 195 patients with newly diagnosed multiple myeloma. To determine the serum levels of BAFF molecules (ng/L) and APRIL (μg/L) quantitative sandwich ELISA (R & D Systems) was used. The obtained values were correlated with serum β2-microglobulin (β2m), thymidine kinase (TK), lactate dehydrogenase (LDH), creatinine (Cr), albumin, hemoglobin, and platelet levels. To assess the relation to the stage of the disease, BAFF and APRIL levels were compared between the stages of staging systems according to Durie - Salmon and International Staging System. With regard to the technical limitations of test kits for APRIL, for statistical analysis margin interval levels <3 and ≥3 μg/L were selected. Results: In the case of BAFF molecules, statistical analysis found positive correlation with levels of LDH (r = 0.223; p = 0.002), albumin (r = 0.208; p = 0.004), β2m (r = 0.175; p = 0.020) and TK (r = 0.189; p = 0.015). In the case of APRIL analysis, we found a positive correlation of higher values (≥ 3 ng/mL) with serum levels of creatinine (p = 0.027), LDH (p = 0.028) and β2m (p = 0.040). Conclusion: BAFF and APRIL molecules are important components of cytokine network of multiple myeloma having an intimate relationship to the pathogenesis, and appear as potential indicators of malignant evolution and disease progression. Our analysis confirmed the relationship of the levels of both parameters to selected indicators of MM advancement. [ABSTRACT FROM AUTHOR]

Objective: Our aim was to compare serum levels of selected markers of bone metabolism and bone marrow microenvironment to the activity of multiple myeloma (MM). Material and methods: Our 94 patients' cohort consisted of 58 patients with active multiple myeloma (AMM), 12 with smoldering myeloma (SMM) and 24 individuals with monoclonal gammapathy of undetermined significance (MGUS). Following parameters of bone marrow microenvironment and bone metabolism were assessed: Hepatocyte growth factor (HGF), Syndecan-1 (SYN-1), Osteoprotegerin (OPG), Macrophage inflammatory protein 1α (MIP-1α), Activin A, Annexin A2, Sclerostin, Matrix metalloproteinase 9 (MMP9), Dickkopf-related protein 1 (DKK-1), and compared within AMM, SMM and MGUS. For statistics we used Mann-Whitney U test with Bonferroni correction at p < 0.05. Results: In comparison of MM and MGUS we found in MM significantly higher serum levels of HGF (median = M 2997 vs 1748 ng/L, p=0.0002), MIP-1α (M 25.5 vs 22.4 ng/L, p=0.018), SYN-1 (M 67.1 vs 21.1 μg/L, p<0,0001) and DKK-1 (M 3303 vs 2733 ng/L, p=0.029). In comparison of AMM and SMM we found in AMM higher serum levels of DKK-1 (M 3303 vs 2196 ng/L, p=0.042) and Annexin A2 (M 37.5 vs 26.5 μg/L, p=0.015). In comparison of MGUS and SMM we found in SMM higher levels of SYN-1 (M 67.1 vs 33.1 μg/L, p=0.023). Conclusion: Analysis of serum levels of parameters of bone marrow microenvironment and bone metabolism showed thein relationship to activity of monoclonal gammopathies, especially in the case of HGF, MIP-1α, SYN-1, DKK-1 and Annexin A2. [ABSTRACT FROM AUTHOR]

BACKGROUND: In this paper, we introduce the designs of two semi-independent randomised controlled prevention trials. OBJECTIVES: The objective of both research projects is to examine the effect of a school-based prevention intervention, called Unplugged, on substance use in Czech and Slovak sixth-graders. In the Czech Republic, in addition, another primary aim is to study the effect of the n-Prevention intervention, which follows the Unplugged intervention in the seventh grade. SETTINGS: The settings were basic schools in the Czech Republic and Slovakia in the years 2012-2015. METHODS: Czech Republic - Students: ESPAD 2010, Strengthening Families Questionnaire, and knowledge test; Parents: Strengthening Families Questionnaire; Teachers: evaluation questionnaires and focus groups; Slovak Republic - Students: the Slovak version of the 2007 ESPAD questionnaire and the self-liking/self-competence, self-control, self-efficacy, resilience, cognitive autonomy, and self-evaluation scales. RESULTS: We plan to pool the data from both research projects in order to further study the effect of Unplugged. Additionally, the independent results from both countries may be further compared and utilised. CONCLUSION: Research project pursues different secondary objectives - this should result in more evidence being provided on the various aspects of the effectiveness of the intervention and a higher number of valuable publications. [ABSTRACT FROM AUTHOR]

In the pathogenesis of multiple myeloma (MM), both primary and secondary genetic changes play an important role. The latter includes deletion of TP53 gene, which belongs among a group of high-risk changes associated with significantly shorter progression-free survival as well as overall survival. Our objective was to determine the frequency and type of deletion of TP53 gene (17p13) in a group of 84 patients with MM or monoclonal gammopathy of undetermined significance (MGUS), comprising 41 males and 43 females with a median age of 61 years. In 45 patients, two distinct bone marrow samples were available, therefore we compared the results from these two collections, too. Bone marrow samples obtained from all patients were analysed using both conventional and molecular cytogenetic methods. To detect deletion of the TP53 gene, the FICTION technique with the LSI TP53/CEP 17 probe (Abbott Molecular) was used. The cut-off was set at 20%. The analysis of 84 patients with MM revealed deletion of TP53 gene in 12 (14%) patients; one patient had chromosome 17 monosomy. Deletion of TP53 gene was not observed in any of the six individuals with MGUS. Most frequently, the deletion was observed in more advanced stages of multiple myeloma. In 10 out 12 patients, the deletion of TP53 gene was a part of a complex karyotype changes. All deletions in our cohort were monoallelic. The study also confirmed a correlation between the deletion of TP53 gene and the deletion of RB1 gene. Our results support the recommendations of the European Myeloma Network supporting the role of routine examination of MM patients for TP53 gene deletion. [ABSTRACT FROM AUTHOR]

The authors present the case study of a multiple myeloma patient with a good primary response to induction chemotherapy and high-dose treatment supported by autologous peripheral stem cells. The following early and abrupt progression of the disease was characterised by a clone of the morphologically dedifferentiated population of tumorous cells including the loss of the ability to synthesize complete molecules of the monoclonal immunoglobulin and the overproduction of kappa free light chains. A cytogenetic examination revealed the development of a karyotype and the presence of secondary cytogenetic modifications with an unfavourable prognosis--translocation t(8;14) (q24;q32) and increased number of copies of the 1q21 area. The myeloma progression was associated with the subsequent resistance to a state-of-the-art combined therapy. [ABSTRACT FROM AUTHOR]

Immunoglobulin D (IgD) multiple myeloma (MM) is a rare plasma cell disorder constituting less than 2% of all MM cases. Survival of patients with IgD MM is generally shorter than that of patients with other types of monoclonal (M-) protein. We have retrospectively analyzed patients with IgD MM participating in clinical trials of the Czech Myeloma Group. Twenty-six IgD MM patients treated between 1996 and 2006 were identified, 14 (54%) men and 12 (46%) women. The median age was 61 years (range: 37–79 years). Ten of 26 patients (39%) were treated with first-line high-dose chemotherapy (HDCT) using melphalan 200 mg/m2 followed by autologous stem cell transplantation (ASCT). Thirteen of 26 patients (50%) received conventional chemotherapy (CHT), mostly melphalan and prednisone or a vincristine/doxorubicin/dexamethasone (VAD) regimen. Treatment responses were evaluable for 23 of 26 (89%) patients. All HDCT patients had treatment responses, including seven patients (70%) with complete responses and three patients (30%) with partial responses. The median progression-free survival was 18 months for HDCT patients and 20 months for CHT patients. The median overall survival (OS) for all patients was 34 months. The median OS for the HDCT group has not yet been reached (70% of the patients are still alive). In contrast, the median OS for CHT patients was only 16 months. The difference in OS between the two groups was statistically significant (P=0.005). In conclusion, the overall response rate for patients with IgD MM aged 65 years or less treated with HDCT and ASCT is similar to that seen in other MM types.Bone Marrow Transplantation (2008) 41, 51–54; doi:10.1038/sj.bmt.1705881; published online 15 October 2007 [ABSTRACT FROM AUTHOR]