J. Poznanic, L. Perisic, J. Urosevic, B. Petrucev, T. Djureinovic, N. Tosic, L. Krivokapić-Dokmanović, M. D. Janić, M. Cvorkov-Drazic, G. Bunjevački, T. Pavlovic
{"title":"Biochemical phenotype and origin of the three most common beta-thalassemia mutations in Serbia","authors":"J. Poznanic, L. Perisic, J. Urosevic, B. Petrucev, T. Djureinovic, N. Tosic, L. Krivokapić-Dokmanović, M. D. Janić, M. Cvorkov-Drazic, G. Bunjevački, T. Pavlovic","doi":"10.2298/JMH0404361P","DOIUrl":"https://doi.org/10.2298/JMH0404361P","url":null,"abstract":"Summary: Molecular (DNA) characterization of thalassemia is the most reliable methodology for the diagnosis of this group of diseases. As thalassemias are very heterogeneous, hematological data and additional biochemical analysis are essential for their differential diagnosis. In this paper we present hematological and biochemical characteristics of the carriers of three most common beta-thalassemia mutations in Serbia (Hb Lepore, b°39 and b + IVS-I-110), to be taken into consideration as the initial step of the diagnostic approach to the thalassemia patients. Also, this paper represents a detailed survey of the diversity of b-globin gene haplotypes in carriers of the most common b-thalassemia mutations and normal betaA/betaA individuals of Serbian descent. A novel haplotype associated with Hb Lepore-Boston-Washington gene has been identified in Serbian population. These data support the hypothesis of multicentric origin of this mutation. The mutation has arised de novo in the chromosomal background characteristic for Serbian population. Additionally, we have shown that two most common Mediterranean mutations, b°39 and b + IVS-I-110, have probably been introduced into Serbian population from Italy and Turkey, respectively, through historically documented migrations and settlements.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122023575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. Nikolić‐Vukosavljević, M. Markićević, S. Todorović
{"title":"Single-point versus five-point biochemical method for determination of estrogen and progesterone receptors","authors":"D. Nikolić‐Vukosavljević, M. Markićević, S. Todorović","doi":"10.2298/JMH0201015N","DOIUrl":"https://doi.org/10.2298/JMH0201015N","url":null,"abstract":"Receptors for estrogen and progesterone are accepted by international consensus as biomarkers of breast carcinoma responsiveness to endocrine therapy. Numerous current studies are aimed at consideration of importance of \"the new generation\" of estrogen-regulated biomarkers in treatment of breast cancer patients. Simultaneous knowledge of all these biomarkers may help in medical decision making. However, the amount of tumor material available from breast carcinoma can make impossible determination of estrogenregulated biomarkes together with estrogen and progesterone receptors. To assess whether we could replace our current five-point ligand binding assay for measurement of estrogen and progesterone receptors with a single- point ligand binding assay, we compared simultaneous measurements in same samples of breast carcinomas by both methods. A linear regression analysis shows that single-point assay can be confidently used instead of five-point assay. In addition, there were no variations over time in estrogen and progesterone receptors phenotypes, as well as in estrogen and progesterone receptors contents determined by single-point assay. Accordingly, the results clearly demonstrate the validity of intralaboratory quality control and give a possibility for the establishment of interlaboratory quality control of single-point ligand binding assay.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129504084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"THE BASIC HAEMATOLOGICAL MEASUREMENTS IN PERIPHERAL BLOOD FROM WORKERS EXPOSED TO MERCURY VAPOURS","authors":"R. Maksimović, L. Mandić, S. Spasić","doi":"10.2298/JMH0404381M","DOIUrl":"https://doi.org/10.2298/JMH0404381M","url":null,"abstract":"Summary: In the present study was assessed the influence of occupational exposure to mercury vapours on the basic haematological parameters (erythrocyte, leukocyte and platelet count, haemoglobin concentration, haematocrit, MCV, MCH and MCHC). Studies were carried out on 138 workers involved in the production of chlorine using the mercuric electrolysis method (divided into three groups: permanently, periodically and earlier exposed to mercury vapours), as well as on 38 healthy workers. The shift time - weighted averages for mercury was determined in the workplace air before research; mean value was significantly over maximum tolerated dose. The mercury content in the blood and urine of exposed workers was determined by atomic absorption spectrophotometry. In all three groups 95th percentile values of mercury in blood and urine are significantly over MTD. Peripheral blood cell parameters were determined using an automatic cell counter. In the group exposed to mercury vapours, was found a statistically significant increase of erythrocyte count with a concomitant decrease in MCV. The mean values of haemoglobin concentration, MCHC and platelet count were higher in the group of workers exposed to mercury vapours, but the difference was not statistically significant. There were no significant differences in haematocrit, MCH and leukocytes between the studied groups. Our results indicate that long-term and permanent exposure to mercury vapours induces changes in the important haematological parameters of the peripheral blood.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"37 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129140844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Diagnostics of hereditary malignancies","authors":"K. Stankov","doi":"10.2298/JMB0604381S","DOIUrl":"https://doi.org/10.2298/JMB0604381S","url":null,"abstract":"Summary: Significant advances have occurred in our understanding of the cancer etiology in the last decade, as a consequence of the generalized use of molecular biology techniques in human genetics. Cancer is a form of a complex genetic disease. Most forms of cancer are characterised by the accumulation of different genetic alterations affecting genes from a set of genes with pathogenic potential, which is specific for each tumour entity. While in the majority of malignant tumours these changes are somatically acquired, some mutations are transmitted through the germline and account for an inherited tumour predisposition. The next frontier in cancer genetics is to find genes with high prevalence alleles conferring a low increase or decrease of cancer risk.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"92 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124656907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Nikolić, A. Divac, N. Bogdanović, M. Mitić-Milikić, D. Radojkovic
{"title":"CFTR GENE ANALYSIS IN PATIENT WITH ATYPICAL CYSTIC FIBROSIS","authors":"A. Nikolić, A. Divac, N. Bogdanović, M. Mitić-Milikić, D. Radojkovic","doi":"10.2298/JMH0404351N","DOIUrl":"https://doi.org/10.2298/JMH0404351N","url":null,"abstract":"Summary: This paper reports a case of a patient presenting with atypical cystic fibrosis whose sweat test showes borderline values. In vast majority of cases the sweat test is essential diagnostic tool for establishing the diagnosis of cystic fibrosis, but only after the molecular genetic testing the diagnosis can be confirmed. The patient was found to be compound heterozygote for two CFTR mutations, F508del and D1152H. The presence of F508del mutation was analyzed by PSM method, while the screening for the second mutation was performed using DGGE. The strategy of mutation detection in cystic fibrosis patients, especially those with atypical presentations who carry less frequent mutations, should include both direct and indirect methods of molecular diagnostics.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"27 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124703996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Establishing reference laboratories in laboratory medicine","authors":"Lothar Siekmann","doi":"10.2298/JMH0503207S","DOIUrl":"https://doi.org/10.2298/JMH0503207S","url":null,"abstract":"The concept of measurement traceability provides probably the most important strategy to achieve standardization in laboratory medicine aimed at comparable measurement results regardless of the method, the measurement procedure (test kit) and of the laboratory where analyses are carried out. Establishing networks of reference laboratories is - in addition to reference measurement procedures and reference materials - one of the biggest challenges in implementing the concept of measurement traceability. With respect to these requirements, the Joint Committee on Traceability in Laboratory Medicine (JCTLM), established by the BIPM, the IFCC and the ILAC, has launched two projects in its working groups. WG-1 has to date published tables of reference materials and reference procedures on the BIPM web-sites, whereas WG-2 is identifying reference measurement laboratories. There is general agreement now that reference laboratories should be identified - according to the metrological level of the procedures applied where the principle of measurement is the most important criterion, - on the basis of accreditation or at least compliance with ISO 15195 or ISO 17025 as calibration laboratory, and - on the basis of their ability to demonstrate performance in regular inter - laboratory comparisons (ring trials). To date, a data base on candidate reference laboratories has been collected containing information on the laboratory identity, the metrological level of the procedures and on the status of accreditation and the participation in networks or ring trials. The data base currently contains the addresses of about 60 laboratories. On average, each of the laboratories reported measurement capabilities for six different measurands resulting in about 360 entries. The IFCC has recently launched a ring trial program for reference laboratories for some thirty different measurands. Ring trial results not only demonstrate the competence of individual laboratories, but also reveal the equivalence or bias of different reference procedures. .","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129644826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"CLINICAL VALUE OF THE BIOCHEMICAL MARKERS OF BONE REMODELING IN THE ASSESSMENT OF BONE METABOLIC DISEASES","authors":"Jugoslov Med Biohem, J. Štěpán","doi":"10.2298/JMB0603241S","DOIUrl":"https://doi.org/10.2298/JMB0603241S","url":null,"abstract":"Summary: Bone markers have been useful research tools, with their clinical utility limited by their specific technical and analytical aspects and pre-analytical variability. Bone markers reflect different aspects of the quality of bone than BMD and, therefore, may add an independent, predictive value to the assessment of changes in bone mineral density and reductions in the risk of fracture. The decrease in bone marker levels is strongly related to the reduction in vertebral fracture risk through raloxifene, risedronate and alendronate. After anabolic therapy with teriparatide, early increases in bone formation markers are strong predictors of BMD responses. There are potential advantages of using markers for monitoring anti-osteoporosis treatment in the short term, in addition to the bone mineral measurements, to identify non-responders or non-compliance. The transition of biochemical bone markers into everyday clinical practice requires standardization of assays and quality control programs to reduce large inter-laboratory variations of data, defining criteria of a high bone turnover in terms of reference values, either young adult or age-matched, and better characterization of the markers across geographic areas and races and under various clinical conditions.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123862137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Djurica, G. Korićanac, N. Ribarac‐Stepic, M. Davidović, D. Milosevic, M. Petrovic, M. Rajić
{"title":"Biochemical and molecular biological aspects of glucose intolerance in elderly persons","authors":"S. Djurica, G. Korićanac, N. Ribarac‐Stepic, M. Davidović, D. Milosevic, M. Petrovic, M. Rajić","doi":"10.2298/JMH0402161D","DOIUrl":"https://doi.org/10.2298/JMH0402161D","url":null,"abstract":"Summary: Changes in carbohydrate metabolism in elderly persons have drawn considerable attention but the findings from different studies are in contrast and are even controversial. The insulin receptors in erythrocytes were studied in elderly euglycaemic patients and in a middle-aged control group. The examined persons were also subjected to measurements of blood glucose, insulin and C-peptide concentrations, before and 3 hours after a dietetic meal. In the present study it was found that in spite of the maintained insulin level and C-peptide secretion, some structural and corresponding changes in membrane insulin receptors and the binding site caused differences in postreceptor responses in elderly persons. The examined groups, consisted of 29 males, average age of 66 years (65’70), with normal serum glucose level and 19 middle-aged males, average age of 42 years (32’48), with normal glycoregulation. In basal condition, elderly persons have both normal morning serum insulin (19.68 ± 4.00 mU/L) and C-peptide (2.04 ± 0.78 nmol/L) level. In elderly persons, the number of high affinity insulin receptors in erythrocytes membrane is 22.80 ± 6.18 but the formed insulin-high affinity receptors were not stable. Dissociation constant (Kd1) indicates its elevated dissociation (0.11 ± 0.04). At the same time the number of insulin low affinity binding sites is increased (13 273 ± 5 572) with a fast dissociation of the hormone (13.99 ± 3.37). Food intake raised the number of high affinity receptors compared to the basal value. Alteration in insulin binding affinity suggests the structural and corresponding changes in membrane receptors that may cause differences in postreceptors responses in elderly persons.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123945819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"ISO 15189:2003 - A PRACTICAL TOOL FOR THE MANAGEMENT OF QUALITY IN THE MEDICAL LABORATORY","authors":"D. Burnett","doi":"10.2298/JMH0503193B","DOIUrl":"https://doi.org/10.2298/JMH0503193B","url":null,"abstract":"Summary: The requirements of ISO 15189:2003 are discussed in the context of a process and outcome based quality management model in which the user’s needs are the central focus. The requirements of ISO 15189:2003 are examined in terms of organisation and a quality management system and stress the importance of evidence, document control and control of records and clinical material. Examples are provided from the areas of resource management, pre examination, examination and post examination processes. In the final section the importance of evaluation and continual improvement is presented in relation to internal audit and external assessment, non-conformity, corrective and preventative action and management review.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"43 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114557905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Kovačević, M. Bogic, A. Perić-Popadić, S. Rašković, Ž. Jovičić, L. V. Tomic-Spiric, Jasminka Sojic-Rajcic, N. Savic
{"title":"The serum eosinophil cationic protein concentration in patients with bronchial asthma and its correlation with severity and exacerbation of the disease","authors":"S. Kovačević, M. Bogic, A. Perić-Popadić, S. Rašković, Ž. Jovičić, L. V. Tomic-Spiric, Jasminka Sojic-Rajcic, N. Savic","doi":"10.2298/JMH0303249K","DOIUrl":"https://doi.org/10.2298/JMH0303249K","url":null,"abstract":"Summary: Activated eosinophilic leukocyte in asthma secrete numerous mediators, among which is ECP as well. The object of our study was to measure the serum ECP concentrations in 46 asthmatic patients with exacerabating and stable asthma, and to correlate the serum ECP concentrations with severity and exacerbation of the disease. Geometric mean of ECP in serum (Gecp) in our group of patients was 7.5 mcg/l, while it was 3.05 mcg/l in the 15 healthy subjects (controls). Highly significant correlation of serum ECP concentrations with the activity of the disease (R=0.897) and the severity of clinical picture (R=0.79) was found. The patients with stable asthma had significant correlation of ECP and the severity of disease (R=0.6). The patients with exacerbating asthma have significantly higher serum ECP concentrations than the patients with stable asthma. Serum ECP concentrations in patients with exacerbating asthma correlate with the severity of the disease.","PeriodicalId":287983,"journal":{"name":"Jugoslovenska Medicinska Biohemija-yugoslav Medical Biochemistry","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127876277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}