Could light meal jeopardize laboratory coagulation tests?

Background:

Presently the necessity of fasting time for coagulation tests is not standardized. Our hypothesis is that this can harm patient safety. This study is aimed at evaluating whether a light meal (i.e. breakfast) can jeopardize laboratory coagulation tests.

Materials and methods:

A blood sample was firstly collected from 17 fasting volunteers (12 h). Immediately after blood collection, the volunteers consumed a light meal. Then samples were collected at 1, 2 and 4 h after the meal. Coagulation tests included: activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (Fbg), antithrombin III (AT), protein C (PC) and protein S (PS). Differences between samples were assessed by Wilcoxon ranked-pairs test. The level of statistical significance was set at P < 0.05. Mean % differences were determined and differences between and baseline and 1, 2 and 4h samples were compared with reference change value (RCV).

Results:

A significantly higher % activity of AT was observed at 1 h and 4 h after meal vs. baseline specimen [113 (104–117) and 111 (107–120) vs. 109 (102–118), respectively; P = 0.029 and P = 0.016]. APTT at 2 h was found significantly lower than baseline samples [32.0 (29.9–34.8) vs. 34.1 (32.2–35.2), respectively; P = 0.041]. The results of both Fbg and PS tests were not influenced by a light meal. Furthermore, no coagulation tests had significant variation after comparison with RCV.

Conclusion:

A light meal does not influence the laboratory coagulation tests we assessed, but we suggest that the laboratory quality managers standardize the fasting time for all blood tests at 12 hours, to completely metabolize the lipids intake.     

The effects of transport by pneumatic tube system on blood cell count,erythrocyte sedimentation and coagulation tests

Introduction:

Today, the pneumatic tube transport system (PTS) is used frequently because of its advantages related to timing and speed. However, the impact of various types of PTS on blood components is unknown. The aim of this study was to examine the influence of PTS on the quality of routine blood cell counts, erythrocyte sedimentation, and certain blood coagulation tests.

Materials and methods:

Paired blood samples were obtained from each of 45 human volunteers and evaluated by blood cell count, erythrocyte sedimentation, and several coagulation tests, including prothrombin time (PT) and activated partial thromboplastin time (aPTT). Blood samples were divided into 2 groups: Samples from group 1 were transported to the laboratory via the PTS, and samples from group 2 were transported to the laboratory manually. Both groups were evaluated immediately by the tests listed above.

Results:

The blood sample test results from groups 1 and 2 were evaluated and compared. No statistically significant differences were observed (P = 0.069–0.977).

Conclusion:

The PTS yielded no observable effects on blood cell counts, erythrocyte sedimentation, or PT and aPTT test results. We concluded that the PTS can be used to transport blood samples and yield reliable results for blood cell counts, erythrocyte sedimentation, and several coagulation tests.     

Diagnostic accuracy of urinary prostate protein glycosylation profiling in prostatitis diagnosis

Introduction

Although prostatitis is a common male urinary tract infection, clinical diagnosis of prostatitis is difficult. The developmental mechanism of prostatitis is not yet unraveled which led to the elaboration of various biomarkers. As changes in asparagine-linked-(N-)-glycosylation were observed between healthy volunteers (HV), patients with benign prostate hyperplasia and prostate cancer patients, a difference could exist in biochemical parameters and urinary N-glycosylation between HV and prostatitis patients. We therefore investigated if prostatic protein glycosylation could improve the diagnosis of prostatitis.

Materials and methods

Differences in serum and urine biochemical markers and in total urine N-glycosylation profile of prostatic proteins were determined between HV (N = 66) and prostatitis patients (N = 36). Additionally, diagnostic accuracy of significant biochemical markers and changes in N-glycosylation was assessed.

Results

Urinary white blood cell (WBC) count enabled discrimination of HV from prostatitis patients (P < 0.001). Urinary bacteria count allowed for discriminating prostatitis patients from HV (P < 0.001). Total amount of biantennary structures (urinary 2A/MA marker) was significantly lower in prostatitis patients compared to HV (P < 0.001). Combining the urinary 2A/MA marker and urinary WBC count resulted in an AUC of 0.79, 95% confidence interval (CI) = (0.70–0.89) which was significantly better than urinary WBC count (AUC = 0.70, 95% CI = [0.59–0.82], P = 0.042) as isolated test.

Conclusions

We have demonstrated the diagnostic value of urinary N-glycosylation profiling, which shows great potential as biomarker for prostatitis. Further research is required to unravel the developmental course of prostatic inflammation.Key words: diagnostic marker, prostatitis, urinary asparagine-linked glycosylation     

Nonalcoholic fatty liver disease associated with impairment of kidney function in nondiabetes population

Background

Nonalcoholic fatty liver disease (NAFLD) is associated with the increased burden of kidney. However, there is still no large population study to explore the potential relationship between NAFLD and mild kidney function damage (MKFD) after adjusted for confounding factors. This study is to test the hypothesis that NAFLD is associated with MKFD under controlling the effects of confounding factors.

Materials and methods:

Levels of serum fasting glucose, creatinine, cholesterol, triglyceride, alanine aminotransferase and aspartate aminotransferase were analyzed from 1412 Chinese Han adults. Questionnaire and physical examination were performed to explore the potential association of NAFLD with kidney function.

Results:

NAFLD was associated with impairment of kidney function. Multivariate-adjusted odds ratio illustrated that, compared to subjects with normal liver, NAFLD subjects had a significantly higher risk of MKFD with or without adjusted for blood glucose and other covariates (P = 0.041). Further results from multi-interaction analysis demonstrated that the underlying mechanisms linked NAFLD with impaired kidney function may be that they share common risk factors and similar pathological processes.

Conclusions:

The most striking finding of this study is that NAFLD is negatively associated with kidney function, in nondiabetic population. NAFLD and MKFD may share similar risk factors and/or pathological processes.     

Diagnostic accuracy of UriSed automated urine microscopic sediment analyzer and dipstick parameters in predicting urine culture test results

Introduction

Urinary tract infection (UTI) is one of the most common types of infection. Currently, diagnosis is primarily based on microbiologic culture, which is time- and labor-consuming. The aim of this study was to assess the diagnostic accuracy of urinalysis results from UriSed (77 Electronica, Budapest, Hungary), an automated microscopic image-based sediment analyzer, in predicting positive urine cultures.

Materials and methods:

We examined a total of 384 urine specimens from hospitalized patients and outpatients attending our hospital on the same day for urinalysis, dipstick tests and semi-quantitative urine culture. The urinalysis results were compared with those of conventional semi-quantitative urine culture.

Results:

Of 384 urinary specimens, 68 were positive for bacteriuria by culture, and were thus considered true positives. Comparison of these results with those obtained from the UriSed analyzer indicated that the analyzer had a specificity of 91.1%, a sensitivity of 47.0%, a positive predictive value (PPV) of 53.3% (95% confidence interval (CI) = 40.8–65.3), and a negative predictive value (NPV) of 88.8% (95% Cl = 85.0–91.8%). The accuracy was 83.3% when the urine leukocyte parameter was used, 76.8% when bacteriuria analysis of urinary sediment was used, and 85.1% when the bacteriuria and leukocyturia parameters were combined. The presence of nitrite was the best indicator of culture positivity (99.3% specificity) but had a negative likelihood ratio of 0.7, indicating that it was not a reliable clinical test.

Conclusions:

Although the specificity of the UriSed analyzer was within acceptable limits, the sensitivity value was low. Thus, UriSed urinalysis results do not accurately predict the outcome of culture.     

Larger differences in utilization of rarely requested tests in primary care in Spain

Introduction

The study was performed to compare and analyze the inter-departmental variability in the request of rarely requested laboratory tests in primary care, as opposed to other more common and highly requested tests.

Materials and methods

Data from production statistics for the year 2012 from 76 Spanish laboratories was used. The number of antinuclear antibodies, antistreptolysin O, creatinine, cyclic citrullinated peptide antibodies, deaminated peptide gliadine IgA antibodies, glucose, protein electrophoresis, rheumatoid factor, transglutaminase IgA antibodies, urinalysis and uric acid tests requested was collected. The number of test requests per 1000 inhabitants was calculated. In order to explore the variability the coefficient of quartile dispersion was calculated.

Results

The smallest variation was seen for creatinine, glucose, uric acid and urinalysis; the most requested tests. The tests that were least requested showed the greatest variability.

Conclusion

Our study shows through a very simplified approach, in a population close to twenty million inhabitants, how in primary care, the variability in the request of laboratory tests is inversely proportional to the request rate.Key words: primary care, laboratory proficiency testing, clinical laboratory services, test requesting, preanalytical phase     

Comparison of blood ethanol stabilities in different storage periods

Introduction

Measurements of blood ethanol concentrations must be accurate and reliable. The most important factors affecting blood ethanol stability are temperature and storage time. In this study, we aimed to compare ethanol stability in plasma samples at -20 °C for the different storage periods.

Materials and methods

Blood samples were collected from intoxicated drivers (N = 80) and initial plasma ethanol concentrations were measured immediately. Plasma samples were then stored at -20 °C and re-assessed after 2, 3, 4, or 5 months of storage. Differences between the initial and stored ethanol concentrations in each group (N = 20) were analyzed using Wilcoxon matched-pairs test. The deviation from the initial concentration was calculated and compared with Clinical Laboratory Improvement Amendments (CLIA’88) Proficiency Testing Limits. Relationships between the initial concentrations and deviations from initial concentrations were analyzed by Spearman’s correlation analysis. For all statistical tests, differences with P values of less than 0.05 were considered statistically significant.

Results

Statistically significant differences were observed between the initial and poststorage ethanol concentrations in the overall sample group (P < 0.001). However, for the individual storage duration groups, analytically significant decreases were observed only for samples stored for 5 months, deviations from the initial concentrations exceeded the allowable total error (TEa). Ethanol decreases in the other groups did not exceed the TEa.

Conclusion

According to our results, plasma ethanol samples can be kept at -20 °C for up to 3-4 months until re-analysis. However, each laboratory should also establish its own work-flow rules and criterion for reliable ethanol measurement in forensic cases.Key words: preanalytical phase, ethanol, stability, storage temperature     

Hemolysis from a nurses’ standpoint – survey from four Croatian hospitals

Introduction

Hemolysis can occur during sample collection, handling and transport. It is more frequent when the non-laboratory staff performs sampling. The aim of this study was to assess nurses’ knowledge on the causes of hemolysis and consequential impact on the laboratory tests results. Additionally, the differences in knowledge, related to work experience, professional degree and previous education about hemolysis were explored.

Materials and methods

An anonymus survey, containing 11 questions on demographics, causes of hemolysis, its impact on biochemical parameters and nurses’ attitude towards additional education in preanalytics, was conducted in four Croatian hospitals. The answers were compared by Chi-squared and Fischer exact test.

Results

In total, 562 survey results were collected. Majority of nurses declared familiarity with the term “hemolysis” (99.6%). There were 77% of correct answers regarding questions about the causes of hemolysis, but only 50% when it comes to questions about interference in biochemical tests. The percentage of correct answers about causes was significantly lower (P = 0.029) among more experienced nurses, and higher (P = 0.027) in those with higher professional degree, while influence of previous education was not significant. Also, higher percentage of correct answers about interferences was encountered in nurses with longer work experience (P = 0.039). More than 70% of nurses declared that additional education about preanalytical factors would be beneficial.

Conclusion

Croatian nurses are familiar with the definition of hemolysis, but a lack of knowledge about causes and influence on laboratory test results is evident. Nurses are eager to improve their knowledge in this field of preanalytical phase.Key words: hemolysis, nurses, survey, preanalytical phase     

Validation of a laboratory and hospital information system in a medical laboratory accredited according to ISO 15189

Introduction

The aim of the study was to present a protocol for laboratory information system (LIS) and hospital information system (HIS) validation at the Institute of Clinical Chemistry and Laboratory Medicine of the Merkur University Hospital, Zagreb, Croatia.

Materials and methods:

Validity of data traceability was checked by entering all test requests for virtual patient into HIS/LIS and printing corresponding barcoded labels that provided laboratory analyzers with the information on requested tests. The original printouts of the test results from laboratory analyzer(s) were compared with the data obtained from LIS and entered into the provided template. Transfer of data from LIS to HIS was examined by requesting all tests in HIS and creating real data in a finding generated in LIS. Data obtained from LIS and HIS were entered into a corresponding template. The main outcome measure was the accuracy of transfer obtained from laboratory analyzers and results transferred from LIS and HIS expressed as percentage (%).

Results:

The accuracy of data transfer from laboratory analyzers to LIS was 99.5% and of that from LIS to HIS 100%.

Conclusion:

We presented our established validation protocol for laboratory information system and demonstrated that a system meets its intended purpose.     

Effect of 12-week-long aerobic training programme on body composition,aerobic capacity,complete blood count and blood lipid profile among young women

Background

Numerous data suggest that aerobic-type exercise improves lipoprotein-lipid profiles, cardiorespiratory fitness and body composition in young women. The aim of this study was to evaluate the biological response to high-low impact aerobic fitness among young women.

Materials and methods

Thirty-four young women aged 22 (19-24) years were divided into three groups: underweight (N = 10), normal weight (N = 12) and overweight (N = 12). Aerobic capacity, anthropometry and body composition together with complete blood count and lipid profile were determined before and after completion of a 12-week-long training period.

Results

The training programme caused a significant decrease in weight (by 4.3 kg, P = 0.003), body mass index (by 1.3 kg/m², P = 0.003), free fat mass (by 2.1 kg, P = 0.002), total body water (by 0.4 kg, P = 0.036), percentage of fat (by 3 percent points, P = 0.002), all analyzed skinfolds thicknesses, as well as the lipid profile in overweight group, and no changes in normal weight group. Significant changes in weight (by 4.2 kg, P = 0.005), body mass index (by 0.9 kg/m², P = 0.005), crus skinfold thickness (by 3.3 mm, P = 0.028), and in maximum oxygen uptake (by 2.49 mL/kg/min; P = 0.047) were observed among underweight women. No change in total blood count was observed in all groups.

Conclusion

Twelve-week-long fitness training programme of two alternating styles (low and high impact) has a beneficial effect on overweight young women.Key words: body composition, physical fitness, overweight, women     

Evaluation of the Steelex M600H coagulometer prothrombin time-international normalized ratio assay with Steelex test reagents

Introduction

The aim of the present study was to validate prothrombin time (PT) international normalized ratio (INR) results obtained using Steelex test reagents and a Steelex coagulometer (Steelex Scientific Instrument Company, Beijing, China), in comparison with use of a well-established standard test employing Pacific Hemostasis reagents (Fisher Diagnostics, Middletown, VA, USA) and Teco Coatron A4 coagulometer (Teco Medical Instruments GmbH, Neufahrn, Germany).

Materials and methods:

Between- and within-day coefficients of variation (CVs) of both assays were calculated using control samples provided by the test manufacturers. Samples from 90 subjects were collected and INR values were determined in a double-blind parallel manner employing both systems.

Results:

The within-day coefficients of variation (CVs) in INR estimates ranged from 2.6% (INR = 1.12) to 3.1% (INR = 2.51) for the Steelex system and from 2.1% (INR = 1.09) to 1.8% (INR = 2.8) for the Pacific test; the between-day values ran from 3.4% (INR = 1.16) to 7.9% (INR = 2.64) and from 3.3% (INR = 1.1) to 2.3% (INR = 2.7), respectively. Passing-Bablok fit of the of the Steelex and Pacific methods yielded the equation: Steelex INR = 0.85 (0.79–0.91) × Pacific INR + 0.12 (−0.02–0.21), whereas the CUSUM linearity P value was < 0.01. The mean bias as determined by the Bland-Altman test was −0.156 (−0.912–0.600).

Conclusion:

The results obtained using Steelex reagents and the M600H coagulometer are not equivalent to those obtained using Pacific Hemostasis reagents and a Teco Coatron A4 coagulometer, at least in the therapeutic range.     

Application of sigma metrics for the assessment of quality assurance using the MQ-2000 PT HbA1c analyzer

Introduction

Glycosylated hemoglobin (HbA1c) concentrations measured in clinical chemistry laboratories show large differences between their interlaboratory reported values. Laboratory measurements of quality performance should be based on quantitative data. The sigma metrics model provides an objective method for the assessment of current HbA1c assays and is useful in quality management planning. The aim of our study was to evaluate the analytical performance of the MQ-2000 PT HbA1c analyzer test results in the context of our operating conditions on the sigma scale.

Materials and methods

The coefficient of variation was determined from the calculated mean and standard deviation evaluated from internal quality control (QC) (N = 168 days) (Shanghai Huachen Biological Reagent Co. Ltd, China) data, and records of external quality data (KBUDEK, İstanbul, Turkey) measured in the period from May to November 2013 were used to determine the bias. The resulting data and total allowable error rate (TEA = 10%) from the Clinical Laboratory Improvement Amendments of 1988 (CLIA’88) were used to calculate the sigma level.

Results

The calculated coefficient of variations (CVs) at the two levels, normal (QC1 = 36.6 ± 2.38 mmol/mol) and pathological (QC2 = 84.7 ± 2.68 mmol/mol), were 6.5% and 3.1%, respectively. The average bias between the external QC and MQ-2000 PT during the study period was 4.3%. The calculated average sigma value was 1.19.

Conclusions

The MQ-2000 PT HbA1c is a new analyser in the market; there is need for improvement and the method should be controlled with greater attention to ensure quality.Key words: diabetes mellitus, hemoglobin A1c protein, human, chromatography, high pressure liquid chromatography     

“Real life use” of troponin in the emergency department: a survey of over 3000 cases

Introduction

The aim of this study was to identify clinical variables which may be independently associated with positivity of a cardiac troponin I (cTnI) assay in a large population of patients admitted to the emergency department (ED).

Materials and methods

3166 subjects, with at least two troponin I tests ordered within 6 hours in the ED, were studied. Patient data were statistically analyzed to identify clinical associations with increased values of Troponin I.

Results

Although patients with diagnosis of acute coronary syndrome displayed troponin I values significantly higher than those of other groups, positivity to troponin I (> 40 ng/L) was also observed in patients with other clinical conditions. In multivariate analysis, age, elevated heart rate and electrocardiographyc changes were independently associated with troponin I positivity at admission. In the whole study population troponin I positivity exhibited high sensitivity and negative predictive value, counterbalanced by low specificity and limited positive predictive value.

Conclusions

Troponin I positivity should be combined with history and clinical evaluation and cautiously interpreted in the ED, especially in patients exhibiting factors associated with higher troponin I levels such as older age, elevated heart rate or ECG changes.Key words: troponin I, acute coronary syndrome, emergency service, hospital, chest pain     

Colorectal cancer detection in an asymptomatic population: fecal immunochemical test for hemoglobin vs. fecal M2-type pyruvate kinase

Introduction

Screening programs for colorectal cancer (CRC) are mainly based on a first-line fecal immunochemical test for hemoglobin (FIT). Fecal M2-type pyruvate kinase (M2-PK) has been evaluated in clinical settings showing promising results for early CRC detection. However, the impact of fecal M2-PK assessment on the performance of first-round CRC screening programs is not known. We investigated whether fecal M2-PK alone or in combination with FIT may improve CRC screening efficacy in the general population.

Materials and methods

A total of 1027 asymptomatic subjects (median age 66 [59-74] years; females 504 [49.1%]), identified through the general practitioners’ rosters, were invited for the collection of 2 fecal samples for FIT and M2-PK evaluation. Participants with at least positive one fecal test were referred for colonoscopy. Quality indicators for screening performance were calculated and analyzed using Fisher’s exact test.

Results

Overall, 572 subjects underwent both FIT and M2-PK assessment (participation rate 55.7%): 93 participants showed positive results for at least one test (positivity rate 16.3%). Only 10 patients were positive for both tests. Attendance rate to colonoscopy was 86.0% and a total of 65 adenomas and 7 cancers were detected. Combined use of FIT and fecal M2-PK permitted the identification of 18 more neoplasm (25%) without improving colonoscopy workload, as deduced by the comparable number needed to scope (P = 0.402).

Conclusion

The addition of M2-PK testing to FIT offers the potential to detect additional neoplasms that either do not bleed or only bleed intermittently without reducing participation rate and without increasing endoscopy workload.Key words: biomarker, colorectal cancer, occult blood, M2-type pyruvate kinase, screening     

Plasma centrifugation does not influence thrombin-antithrombin and plasmin-antiplasmin levels but determines platelet microparticles count

Introduction

Centrifugation is an essential step for plasma preparation to remove residual elements in plasma, especially platelets and platelet-derived microparticles (PMPs). Our working hypothesis was that centrifugation as a preanalytical step may influence some coagulation parameters.

Materials and methods

Healthy young men were recruited (N = 17). For centrifugation, two protocols were applied: (A) the first centrifugation at 2500 x g for 15 min and (B) at 2500 x g for 20 min at room temperature with a light brake. In protocol (A), the second centrifugation was carried out at 2500 x g for 15 min, whereas in protocol (B), the second centrifugation involved a 10 min spin at 13,000 x g. Thrombin-antithrombin (TAT) and plasmin-antiplasmin (PAP) complexes concentrations were determined by enzyme-linked immunosorbent assays. PMPs were stained with CD41 antibody and annexin V, and analyzed by flow cytometry method. Procoagulant activity was assayed by the Calibrated Automated Thrombogram method as a slope of thrombin formation (CAT velocity).

Results

Median TAT and PAP concentrations did not differ between the centrifugation protocols. The high speed centrifugation reduced the median (IQR) PMP count in plasma from 1291 (841-1975) to 573 (391-1010) PMP/µL (P = 0.001), and CAT velocity from 2.01 (1.31-2.88) to 0.97 (0.82-1.73) nM/min (P = 0.049). Spearman’s rank correlation analysis showed correlation between TAT and PMPs in the protocol A plasma which was (rho = 0.52, P < 0.050) and between PMPs and CAT for protocol A (rho = 0.74, P < 0.050) and protocol B (rho = 0.78, P < 0.050).

Conclusion

Centrifugation protocols do not influence the markers of plasminogen (PAP) and thrombin (TAT) generation but they do affect the PMP count and procoagulant activity.Key words: cell-derived microparticles, blood coagulation tests, centrifugation, preanalytical phase     

The knowledge and understanding of preanalytical phase among biomedicine students at the University of Zagreb

Introduction

The educational program for health care personnel is important for reducing preanalytical errors and improving quality of laboratory test results. The aim of our study was to assess the level of knowledge on preanalytical phase in population of biomedicine students through a cross-sectional survey.

Materials and methods

A survey was sent to students on penultimate and final year of Faculty of Pharmacy and Biochemistry – study of medical biochemistry (FPB), Faculty of Veterinary Medicine (FVM) and School of Medicine (SM), University of Zagreb, Croatia, using the web tool SurveyMonkey. Survey was composed of demographics and 14 statements regarding the preanalytical phase of laboratory testing. Comparison of frequencies and proportions of correct answers was done with Fisher’s exact test and test of comparison of proportions, respectively.

Results

Study included 135 participants, median age 24 (23-40) years. Students from FPB had higher proportion of correct answers (86%) compared to students from other biomedical faculties 62%, P < 0.001. Students from FPB were more conscious of the importance of specimen mixing (P = 0.027), prevalence of preanalytical errors (P = 0.001), impact of hemolysis (P = 0.032) and lipemia interferences (P = 0.010), proper choice of anticoagulants (P = 0.001), transport conditions for ammonia sample (P < 0.001) and order of draw during blood specimen collection (P < 0.001), in comparison with students from SM and FVM.

Conclusions

Students from FPB are more conscious of the importance of preanalytical phase of testing in comparison with their colleagues from other biomedical faculties. No difference in knowledge between penultimate and final year of the same faculty was found.Key words: survey, education, preanalytical phase     

Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?

Introduction:

Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone.

Subjects and methods:

50 unrelated patients (28 males/22 females, age 52 (24–75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests.

Results:

AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZM_malton, 1 ZQ0_amersfoort), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, M_malton and Q0_amersfoort, the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063).

Conclusion:

There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.     

Direct-to-consumer genetic testing in Slovenia: availability,ethical dilemmas and legislation

Introduction

Over the last few years, many private companies are advertising direct-to-consumer genetic testing (DTC GT), mostly with no or only minor clinical utility and validity of tests and without genetic counselling. International professional community does not approve provision of DTC GT and situation in some EU countries has been analysed already. The aim of our study was to analyse current situation in the field of DTC GT in Slovenia and related legal and ethical issues.

Materials and methods

Information was retrieved through internet search, performed independently by two authors, structured according to individual private company and the types of offered genetic testing.

Results

Five private companies and three Health Insurance Companies offer DTC GT and it is provided without genetic counselling. Available tests include testing for breast cancer, tests with other health-related information (complex diseases, drug responses) and other tests (nutrigenetic, ancestry, paternity). National legislation is currently being developed and Council of Experts in Medical Genetics has issued an opinion about Genetic Testing and Commercialization of Genetic Tests in Slovenia.

Conclusions

Despite the fact that Slovenia has signed the Additional protocol to the convention on human rights and biomedicine, concerning genetic testing for health purposes, DTC GT in Slovenia is present and against all international recommendations. There is lack of or no medical supervision, clinical validity and utility of tests and inappropriate genetic testing of minors is available. There is urgent need for regulation of ethical, legal, and social aspects. National legislation on DTC GT is being prepared.Key words: Direct-to-consumer genetic testing, DTC, ethics in genetics, legislation     

Investigation of unusual high serum indices for lipemia in clear serum samples on Siemens analysers Dimension

Introduction:

We present our work of monitoring 202 different patients with markedly elevated serum index for lipemia whereby serum samples were clear. We tried to clarify the cause of occurrence of these indices which were detected in the years 2006–2010 on Siemens Dimension analyzers.

Materials and methods:

In samples with unusual lipemia index we measured the concentration of lipids (total cholesterol, triglycerides, HDL and LDL cholesterol, Lp(a), ApoA1, ApoB), total proteins and checked for possible interferents (rheumatoid factor, immunoglobulins). We performed serum protein and immuno- electrophoresis. We investigated the repeatability of unusual lipemia indices during the day and after different time periods and we compared them on four different analyzers (RXL Max, Vista, Hitachi 911 and former Olympus AU640).

Results:

In 87% of 202 samples we found a monoclonal or biclonal peak in serum protein electrophoresis. Different types of paraproteins were confirmed with immunofixation electrophoresis. In the remaining 13%, polyclonal elevated concentrations of immunoglobulins were measured. Other parameters had no influence on appearing of these indices. The repeatability of indices was good during the first day of measurements (P values > 0.05) and markedly lower in the next days or after 3 and 12 months (P values < 0.05). The indices were elevated only on Dimension analyzers, but not on Hitachi and former Olympus analysers.

Conclusion:

A markedly elevated lipemia index in a clear serum sample measured on Siemens analyzers Dimension indicates a high possibility for the presence of a paraprotein in the sample.     

Non-commutability of results of highly sensitive troponin I and T immunoassays

Introduction:

The measurement of cardiospecific troponins is pivotal in the diagnostic and prognostic approach of patients with suspected acute myocardial infarction (AMI). However, no information is available on the commutability of results between the novel highly-sensitive (HS) troponin T (TnT) and I (TnI) immunoassays.

Materials and methods:

The study population consisted in 47 consecutive patients presenting at the emergency department (ED) of the Academic Hospital of Parma with suspected AMI. TnI was measured with the novel prototype Beckman Coulter HS-AccuTnI immunoassay on Access 2, whereas TnT was measured with the Roche HS-TnT immunoassay on Cobas.

Results:

Eight out of the 47 patients (17%) were finally diagnosed as having an AMI. The overall correlation between TnT and TnI for total patient group was acceptable (r = 0.944; P < 0.01). Nevertheless, when the analysis of data was carried out in separate groups according to the final diagnosis of AMI, two different equation results were obtained, i.e., HS-TnT = HS-AccuTnI × 0.349 + 20 (r = 0.823; P < 0.01) in non-AMI patients, and HS-TnT = HS-AccuTnI × 0.134 + 67 (r = 0.972; P < 0.01) in those with AMI.

Conclusions:

This study suggests the existence of two biological relationships between TnI and TnT in plasma, depending on the source of release from the myocardium. Moreover, the non-commutability of data between HS-TnT and HS-AccuTnI jeopardizes the clinical decision making, makes it impossible to calculate the delta or reference change value using the two biomarkers and to finally establish a reliable kinetics of troponin release from the injured myocardium.