Jarosław Sak

Population biobanking in selected European countries and proposed model for a Polish national DNA bank

Population biobanks offer new opportunities for public health, are rudimentary for the development of its new branch called Public Health Genomics, and are important for translational research. This article presents organizational models of population biobanks in selected European countries. Review of bibliography and websites of European population biobanks (UK, Spain, Estonia). Some countries establish national genomic biobanks (DNA banks) in order to conduct research on new methods of prevention, diagnosis and treatment of the genetic and lifestyle diseases and on pharmacogenetic research. Individual countries have developed different organizational models of these institutions and specific legal regulations regarding various ways of obtaining genetic data from the inhabitants, donors’ rights, organizational and legal aspects. Population biobanks in European countries were funded in different manners. In light of these solutions, the authors discuss prospects of establishing a Polish national genomic biobank for research purpose. They propose the creation of such an institution based on the existing network of blood-donation centres and clinical biobanks in Poland.

Who Discovered the Erythrocyte Sedimentation Rate

To the Editor: Recently, an interesting discussion concerning the application of erythrocyte sedimentation rate (ESR) and C-reactive protein appeared in The Journal , with inaccurate information about the history of the discovery of the ESR. Crowson and colleagues in the article1 and later2 suggested that discovery of the ESR occurred in the 1920s. However, the discovery was not made at that time, but at the end of the 19th century. For the sake of the highest standards of discussion, we would remind readers that the discoverer of ESR was a Polish physician, Edmund Faustyn Biernacki (1866–1911; Figure 1)3,4,5,6,7. Figure 1. Edmund Faustyn Biernacki (1866–1911). Reproduced from Biernacki E. Drukarnia Granowskiego i Sikorskiego, 189911. Biernacki announced the discovery in 1897 in 2 articles simultaneously: one in Polish in Gazeta Lekarska 4, the second in German in the Deutsche Medizinische Wochenschrift 5. It is also possible to identify the … Address correspondence to Dr. Grzybowski; E-mail: ae.grzybowski{at}gmail.com

The analysis of the ethical, organizational and legal aspects of Polish biobanks activity

BACKGROUND Biobanks create new opportunities for the public health (Public Health Genomics) but need some regulations. Polish biobanks are in the phase of dynamic transformations aiming at integrating their activity and adjusting them to the international standards. The aim of this article is to present the current standards held in the most important Polish institutions collecting biological samples. METHODS A survey was conducted by the questionnaire filled by managers and directors of 24 Polish biobanks. Questions concerned obtaining patient informed consent (also a consent to some future researches and access to dates by other organizations), protection of privacy, storage of the samples and the relevant information, the opinion related to the need of establishing Polish national DNA data bank and possibilities of the scientific international cooperation. RESULTS The written consent to carry out research on the samples is obtained almost everywhere, but 29% of biabanks does not acquire the consent for the future usage of the samples. Almost all inquired banks (93%, n = 22) declare the willingness to start an international cooperation. Most of respondents support the idea of establishing the Polish national DNA bank by the fusion of the already existing banks. CONCLUSION The inquiry findings point that the current biobanks procedures do not differ to any relevant degree from procedures applied in the West European countries. Many of Polish biobanking organizations are willing to cooperate with foreign sites. It may enhance the European biobanking network and gene-environmental research.

Activity of MMP1 and MMP13 and Amino Acid Metabolism in Patients with Alcoholic Liver Cirrhosis

Background Alcoholic liver disease remains one of the most common causes of chronic liver disease worldwide. The aim of this study was to assess the usefulness of metalloproteinases (MMP1 and MMP13) as diagnostic markers of alcoholic liver disease and to determine the changes in free amino acid profile in the patients with alcoholic liver cirrhosis. Material/Methods Sixty patients with alcoholic liver cirrhosis treated in various hospitals of the Lublin region were randomly enrolled. The control group consisted of 10 healthy individuals without liver disease, who did not drink alcohol. Additionally, a group of alcoholics (22 persons) without liver cirrhosis was included in the study. The activity of MMP-1 and MMP-13 in blood plasma of patients and controls was measured using the sandwich enzyme immunoassay technique with commercially available quantitative ELISA test kits. Amino acids were determined by automated ion-exchange chromatography. Results No significant differences were observed in the activity of MMP-1 in alcoholics with or without liver cirrhosis or in controls. Increased serum MMP-13 was found in patients with liver cirrhosis (stage A, B, C) compared to the control group. Patients with alcoholic liver cirrhosis (stage A, B, C) demonstrated reduced concentrations of glutamic acid and glutamine compared to the control group. Plasma levels of valine, isoleucine, leucine, and tryptophan were significantly lower in patients with alcoholic liver cirrhosis (stage C) than in controls. Conclusions MMP-13 can be useful to confirm the diagnosis of alcoholic liver cirrhosis, but levels of MMP-1 are not significantly increased in patients with liver cirrhosis compared to controls. The serum branched-chain amino acid (BCAA) is markedly reduced in patients with stage C alcoholic liver cirrhosis.

Effects of cigarette smoking, metabolic syndrome and dehydroepiandrosterone deficiency on intima-media thickness and endothelial function in hypertensive postmenopausal women

Summary Background Cigarette smoking is a major risk factor of atherosclerosis. The aim of this study was to assess the relationship between smoking and arterial hypertension as well as endothelial dysfunction in postmenopausal women without clinically manifested symptoms of atherosclerosis. Material/Methods The study groups consisted of 35 current smokers and 45 nonsmokers. The thickness of intima-media complex (IMT), a marker of atherosclerosis, was measured in carotid arteries. Plasma concentrations of fasting glucose, insulin, lipoproteins, inflammatory markers (tumor necrosis factor-alpha, intercellular adhesion molecule-1), matrix metalloproteinases (metalloproteinase-9, tissue inhibitor of metalloproteinase-1), insulin, and dehydroepiandrosterone sulfate (DHEA-S) were measured. Results Smokers compared with nonsmokers showed lower fasting glucose levels in blood (87.0±10.9 and 93.2±13.6 mg/dl, p<0.05), higher mean systolic (131.1±15.9 vs. 123.0±10.9 mm Hg, p<0.05) and diastolic (81.7±11.4 vs. 75.2±9.2 mm Hg, p<0.05) blood pressure during daytime, and higher average heart rate during the daytime (78.2±9.3/min vs. 71.5±9.5/min, p<0.01) and at night (67.2±10.6/min vs. 61.7±7.7/min, p<0.05), respectively. The IMT in the right carotid artery was significantly higher in smokers than in nonsmokers (0.96±0.16 mm vs. 0.82±0.21, p<0.05) and was positively correlated with smoking intensity (R=0.36) and habit duration (R=0.35). The comparison of inflammatory markers, metalloproteinases, and DHEA-S concentrations in plasma did not reveal significant differences between the 2 groups. A significant negative correlation between DHEA-S concentration in plasma and IMT in right carotid artery was found in smokers. Conclusions Smoking in hypertensive postmenopausal women is associated with lower fasting blood glucose and BMI values, but higher arterial pressure and heart rate, and increases in IMT in right carotid artery.

Biobank research and ethics: the problem of informed consent in Polish biobanks

Introduction The dynamic development of biobanks causes some ethical, social, and legal problems. The most discussed problems are obtaining informed consent, especially for future research, from minors and from deceased people. The aim of this article is to present the current standards held by Polish biobanks concerning obtaining a participants informed consent in some aspects. Material and methods Survey was carried out by anonymous questionnaire among 59 institutions which deal with the collecting and storage of human cells and tissues in the year 2008. Twenty four filled-in copies of the questionnaires were sent back (return=41%). Results Almost every institution (92%) obtains written consent, but a third of the surveyed institutions (29%) do not obtain consent for the future use of the samples. The majority of the respondents (83%) support the idea of using biological materials for research purposes of a donor who died if he did not leave any written objection to such practices and 46% of respondents stated that biobanks should obtain the consent from the already mature donor who gave their samples as a child. Conclusions The practice and rules for obtaining informed consent for the scientific research require improvement. The possibility to use the human materials in the future, conditions for getting access to the data, the possibility of their withdrawal from the database and using the materials and data after the death of the donor should be clearly determined when the informed consent to collect the material is obtained.

Alterations of Hair and Nail Content of Selected Trace Elements in Nonoccupationally Exposed Patients with Chronic Depression from Different Geographical Regions

The aim of this study was to determine if altered levels of selected trace elements manifest themselves during chronic depression. To identify elements strongly associated with chronic depression, relationships between the elemental contents of hair and nails and the interelement correlations were checked. Inductively coupled plasma mass spectrometry and ion chromatography were used to evaluate the contents of Zn, Cu, Co, Pb, Mn, and Fe in hair and nail samples from a total of 415 subjects (295 patients and 120 healthy volunteers). The study included logistic regression models to predict the probability of chronic depression. To investigate possible intercorrelations among the studied elements, the scaled principal component analysis was used. The research has revealed differences in TE levels in the group of depressed men and women in comparison to the healthy subjects. Statistically significant differences in both hair and nails contents of several elements were observed. Our study also provides strong evidence that the intermediary metabolism of certain elements is age- and gender-dependent. Zn, Mn, Pb, and Fe contents in hair/nails seem to be strongly associated with chronic depression. We found no statistically significant residence-related differences in the contents of studied elements in nonoccupationally exposed patients and healthy subjects.

Association between Serum Selenium Concentrations and Levels of Proinflammatory and Profibrotic Cytokines—Interleukin-6 and Growth Differentiation Factor-15, in Patients with Alcoholic Liver Cirrhosis

According to some authors, serum selenium levels are strongly associated with the severity of liver diseases, including liver cirrhosis. The aim of this study was to determine the relationship between the concentration of selenium and pro-inflammatory and profibrotic cytokines—interleukin-6 (IL-6) and growth differentiation factor 15 (GDF-15) in patients with alcoholic liver cirrhosis. The parameters studied were determined in the serum of 99 patients with alcoholic liver cirrhosis divided based on the severity of disease according to the Child-Turcotte-Pugh criteria. In patients with liver cirrhosis, the serum selenium concentration was statistically lower, whereas serum IL-6 and GDF-15 concentrations were higher than those in the control group. Moreover, the concentration of selenium negatively correlated with the levels of GDF-15 and IL-6. The above results may indicate a role of selenium deficiency in the pathogenesis and progression of alcoholic liver disease.

Proinflammatory Cytokines (IL-1α, IL-6) and Hepatocyte Growth Factor in Patients with Alcoholic Liver Cirrhosis

Background. The aim of the study was to assess the activity of interleukin-1α, interleukin-6, and hepatocyte growth factor protein (HGF) in serum of patients with alcoholic liver cirrhosis. Materials and Methods. Sixty patients with alcoholic liver cirrhosis treated in various hospitals were randomly enrolled. The stage of cirrhosis was assessed according to the Child-Turcotte-Pugh scoring system. The control group consisted of ten healthy persons without liver disease, who did not drink alcohol. Additionally, the group of alcoholics without liver cirrhosis was included in the study. The activity of interleukin-1α, interleukin-6, and HGF in blood plasma of patients and controls was measured using the sandwich enzyme immunoassay technique with commercially available quantitative ELISA test kits. Results. Higher concentrations of HGF protein were demonstrated in patients with Child class B and Child class C liver cirrhosis, compared to controls and alcoholics without liver cirrhosis. Moreover, significantly higher concentrations of HGF protein were found in patients with Child class C liver cirrhosis compared to patients with Child class A liver cirrhosis (p < 0.05). The concentrations of interleukin-1α in patients with Child class B and Child class C liver cirrhosis were significantly higher in comparison with controls. Significantly higher concentrations of interleukin-6 were demonstrated in Child class C, compared to Child class A.

Lipemia retinalis – an unusual cause of visual acuity deterioration

Summary Background Hyperlipidemia is an identified factor of premature vessel atherosclerosis. Lipemia retinalis is an unusual retinal manifestation of hyperlipidemia and is thought to be directly correlated with the serum triglyceride level. Case Report This paper discusses the case of a 55-year-old patient with lipemia retinalis, which deteriorated his visual acuity. The patient had an extremely high serum cholesterol level (1053 mg/dl) and a very high level of triglycerides (1513 mg/dl). The normalization of serum lipids, reversion of retinal vessels alterations and visual acuity improvement was achieved after an intensive statin lipid-lowering therapy. Pathological changes of the patient’s retina, connected with lipemia retinalis, disappeared completely. Conclusions Hyperlipidemia can cause lipemia retinalis, which is characterized by the hyperlipidemic vascular lesions-whitish color of vessels, lipid infiltration into the retina and decrease of visual acuity. The lipid-lowering therapy may lead to the normalization of the appearance of the fundus and restore the visual acuity.