Search

Monogenic mutations of the hepatocyte nuclear factor 1 homeobox A maturity onset diabetes of the young (HNF1A-MODY) is characterized by early onset, typically before the age of 25 years. Patients are often not clinically recognized; however, the identification of HNF1A-MODY patients is crucial because they require different antihyperglycemic medical treatment than patients with type 1 or type 2 diabetes mellitus. We describe two adult patients with monogenic diabetes, both identified as HNF1A-MODY, genetically c.815G>A, p.Arg272His and c675delC, p.Ser225Argfs*8, respectively. They were misdiagnosed as having type 1 diabetes mellitus, and consequently, initiating insulin therapy led to hypoglycemia and unstable blood glucose control. Usually, sulfonylureas represent the basis of antidiabetic treatment in patients with HNF1A-MODY; however, all medical personnel involved in diabetes care should be aware of monogenic diabetes mellitus and the possibilities for genetic testing. The patients observed have shown the necessity of the identification and appropriate genetic diagnosis of HNF1A-MODY in order to discontinue insulin therapy and to initiate adjusted diabetes management.

Current literature proposes associations between tryptophan metabolism and anaemia. However, study cohorts are rather small and final conclusions are still lacking. Here, we evaluated potential associations of tryptophan, kynurenine, and kynurenic acid with indicators of iron metabolism (i.e., mean corpuscular volume, mean corpuscular haemoglobin, ferritin, transferrin saturation, serum iron, transferrin, soluble transferrin receptor, reticulocyte haemoglobin) and haemoglobin in 430 individuals grouped by the presence or absence of iron deficiency or anaemia. Indicators of tryptophan metabolism were positively correlated with haemoglobin and markers of iron metabolism (p-values

Background Helicobacter pylori has been associated with iron deficiency (ID). This study is aimed at investigating ID with conventional (ferritin, transferrin saturation [TSAT]) and new biomarkers (soluble transferrin receptor [sTfR], sTfR/log ferritin, reticulocyte hemoglobin content [CHr], hepcidin-25) in patients sub-grouped by the presence or absence of H. pylori infection. Methods In total, 200 consecutive outpatients, who were referred for the H. pylori 13C-urea breath test (13C-UBT), underwent blood testing for ID. Additionally, Thomas-plot (TP)-analyses (sTfR/log ferritin, CHr) were calculated. Results Fifty-three and 147 individuals were found with and without H. pylori infection, respectively. Patients with H. pylori infection showed a higher sTfR concentration (pH. pylori infection and 63/147 (42.9%) without H. pylori infection showed ID. Based on TP-analyses, 10/53 (18.9%) patients with and 17/147 (11.6%) without H. pylori infection were identified with ID. Completed eradication therapy tended to be associated with functional ID. Conclusions Helicobacter pylori infection was associated with significantly higher plasma sTfR concentrations and sTfR/log ferritin ratios. Patients with H. pylori eradication therapy were more often detected with functional ID compared to patients without eradication therapy, when using the new biomarkers.

Background: Posttraumatic stress disorder (PTSD) is a frequently observed stress-related disorder after acute myocardial infarction (AMI) and it is characterized by numerous symptoms, such as flashbacks, intrusions and anxiety, as well as uncontrollable thoughts and feelings related to the trauma. Biological correlates of severe stress might contribute to identifying PTSD-vulnerable patients at an early stage. Objective: Aims of the study were (1) to determine whether blood levels of trimethylamine N-oxide (TMAO) vary immediately after AMI in patients with/without AMI-induced PTSD symptomatology, (2) to investigate whether TMAO is a potential biomarker that might be useful in the prediction of PTSD and the PTSD symptom subclusters re-experiencing, avoidance and hyperarousal, and (3) to investigate whether TMAO varies immediately after AMI in patients with/without depression 6 months after AMI. Method: A total of 114 AMI patients were assessed with the Hamilton-Depression Scale after admission to the hospital and 6 months later. The Clinician Administered PTSD Scale for DSM-5 was used to explore PTSD-symptoms at the time of AMI and 6 months after AMI. To assess patients’ TMAO status, serum samples were collected at hospitalization and 6 months after AMI. Results: Participants with PTSD-symptomatology had significantly higher TMAO levels immediately after AMI than patients without PTSD-symptoms (ANCOVA: TMAO(PTSD x time), F = 4.544, df = 1, p = 0.035). With the inclusion of additional clinical predictors in a hierarchical logistic regression model, TMAO became a significant predictor of PTSD-symptomatology. No significant differences in TMAO levels immediately after AMI were detected between individuals with/without depression 6 months after AMI. Conclusions: An elevated TMAO level immediately after AMI might reflect severe stress in PTSD-vulnerable patients, which might also lead to a short-term increase in gut permeability to trimethylamine, the precursor of TMAO. Thus, an elevated TMAO level might be a biological correlate for severe stress that is associated with vulnerability to PTSD., HIGHLIGHTS An elevated TMAO level might be a biological correlate for severe stress that is associated with vulnerability to PTSD.

Histamine intolerance (HIT) is assumed to be due to a deficiency of the gastrointestinal (GI) enzyme diamine oxidase (DAO) and, therefore, the food component histamine not being degraded and/or absorbed properly within the GI tract. Involvement of the GI mucosa in various disorders and diseases, several with unknown origin, and the effects of some medications seem to reduce gastrointestinal DAO activity. HIT causes variable, functional, nonspecific, non-allergic GI and extra-intestinal complaints. Usually, evaluation for HIT is not included in differential diagnoses of patients with unexplained, functional GI complaints or in the here-listed disorders and diseases. The clinical diagnosis of HIT is challenging, and the thorough anamnesis of all HIT-linked complaints, using a standardized questionnaire, is the mainstay of HIT diagnosis. So far, DAO values in serum have not been established to correlate with DAO activity in the gut, but the diagnosis of HIT may be supported with determination of a low serum DAO value. A targeted dietary intervention, consisting of a histamine-reduced diet and/or supplementation with oral DAO capsules, is helpful to reduce HIT-related symptoms. This manuscript will present why histamine should also be taken into account in the differential diagnoses of patients with various diseases and disorders of unknown origin, but with association to functional gastrointestinal complaints. In this review, we discuss currently increasing evidence that HIT is primarily a gastrointestinal disorder and that it originates in the gut.

Single and/or combined food intolerance/malabsorption may cause nonspecific, functional gastrointestinal (GI) complaints. In lactose-intolerant patients we evaluated the influence of additional food intolerance/malabsorption with hydrogen (H2) breath tests. In a retrospective analysis of charts from 279 lactose-intolerant patients, we found 128 patients with only lactose intolerance (LIT). Then, we identified 106 LIT patients with additional histamine intolerance (HIT). Additionally, 45 LIT and HIT patients also had fructose malabsorption (FM). A hydrogen (H2) breath test was performed to evaluate LIT and FM. A serum diamine oxidase value of &lt, 10 U/mL and a response to a histamine-reduced diet was used to identify HIT. Using pairwise comparison with the Kruskal&ndash, Wallis test to associate the area under the curve (AUC) of LIT patients and, LIT with HIT, to LIT with HIT and FM it was found, that the exhaled hydrogen values were significantly higher in patients with two-fold and triple combined food intolerance/malabsorption (p &lt, 0.004 and p &lt, 0.001, respectively). Within the pool of 170 LIT patients with &gt, 20 ppm increase of expiratory H2 from baseline, there were 74 LIT-only patients, 60 LIT with HIT patients, and 36 LIT patients with additional HIT and FM. With the Kruskal&ndash, Wallis test AUCs demonstrated a significant difference between all three groups (p = 0.024). In patients with LIT, the presence of additional food intolerance/malabsorption, significantly increases expiratory H2 values. We demonstrate evidence, which may suggest HIT to embody an own GI disorder as food intolerance/malabsorption.

Objectives Recently, the fully automated flow cytometry-based UF-5000 (Sysmex Corboration, Kobe, Japan) urine sediment analyzer was developed providing bacteria (BACT) info flags for more accurate bacterial discrimination of urinary tract infections (UTIs). This study aimed to compare the reliability of the UF-5000 BACT-info flags with manual Gram stain and urine culture as the gold standard method. Methods A total of 344 urine samples were analyzed on the UF-5000 and compared with manual microscopic Gram stain and urine cultures. Agreement was assessed by Cohen’s kappa (κ) analysis. The Youden index was used to determine the optimal BACT and white blood cell (WBC) cut-off points for discriminating positive and negative urine cultures. Results Overall 98/344 (28.5%) samples were urine culture positive at a cut-off of ≥105 CFU/mL. “Gram-negative?” UF-5000 BACT-Info flags showed a better concordance of 25/40 (62.5%) with urine culture compared to Gram stain with 30/50 (60%). The results for UF-5000 discrimination of Gram-positive and Gram-negative microorganisms demonstrated a substantial (κ = 0.78) and fair (κ = 0.40) agreement with urine culture. Optimal cut-off points detecting positive urine cultures were 135 BACT/µL (sensitivity [SE]: 92.1%, specificity [SP]: 85.4%, positive predictive value [PPV]: 71%, negative predictive value [NPV]: 96%) and 23 WBC/µL (SE: 73.5%, SP: 84.1%, PPV: 65%, NPV: 89%). Conclusions The UF-5000 analyzer (Sysmex) is a reliable diagnostic tool for UTI screening. The displayed BACT-Info flags allow a quick diagnostic orientation for the clinician. However, the authors suggest verifying the automated Gram categories with urine culture.

Objectives The mucoprotein uromodulin is considered to correlate with glomerular filtration rates (GFR) in patients with chronic kidney disease (CKD). Here we investigated how serum uromodulin is associated with measured GFR using inulin-clearance and GFR estimated by CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) equation in healthy subjects. Methods We assessed possible correlations between uromodulin serum concentrations, inulin-GFR and CKD-EPI-GFR in a well characterized study cohort of 112 healthy living kidney donors with two kidneys before and 64 with one kidney after kidney donation. A subgroup of 32 individuals, which presented data before and after nephrectomy, was assessed separately. Results All 112 healthy living kidney donors with two kidneys revealed individual serum uromodulin concentrations between 60.1 and 450.5 µg/L. Sixty-four healthy kidney donors after nephrectomy had significantly lower median (interquartile range) serum uromodulin concentrations (124 [101–166] vs. 185 [152–238] µg/L), inulin-GFR (67.3 [60.6–74.6] vs. 93.5 [82.1–104.4] mL/min/1.73 m2), and CKD-EPI-GFR (61.2 [53.1–69.7] vs. 88.6 [80.0–97.1] mL/min/1.73 m2) as compared to the 112 donors before donation (p Conclusions These novel findings indicate that – in contrast to patients with CKD – serum uromodulin concentrations are not correlated with measured and estimated GFR in healthy individuals.

Vitamin D status is typically assessed by the measurement of 25-hydroxyvitamin D (25(OH)D). However, in selected patient groups the sole determination of 25(OH)D has been proven insufficient for this purpose. The simultaneous measurement of additional vitamin D metabolites may provide useful information for a better evaluation of the vitamin D status. Therefore, we developed and validated a liquid chromatography tandem mass spectrometry (LC-MS/MS) method for the simultaneous determination of 25(OH)D3, 25(OH)D2, 24,25(OH)2D3 and additionally 25,26(OH)2D3, which was identified with a synthesized pure substance. Pure and deuterated substances were used to prepare calibrators and internal standards for all target metabolites. Pre-analytical sample preparation comprised protein precipitation followed by liquid-liquid-extraction and derivatization with 4-Phenyl-1,2,4-triazole-3,5-dione (PTAD) using 50 µL sample volume. Samples were analyzed on an Agilent HPLC 1260 system equipped with a silica-based Kinetex® 5 µm F5 100 A core-shell column (150 × 4.6 mm) coupled to a Sciex 4500 mass spectrometer. For all four metabolites, limit of detection (LoD) and limit of quantification (LoQ) ranged from 0.3 to 1.5 nmol/L and 1.0 to 3.1 nmol/L, respectively. Recovery varied between 76.1 % and 84.3 %. Intra- and inter-assay imprecision were

Sugars including lactose and fructose, or proteins (gluten), or biogenic amines (histamine), and combinations thereof may cause food intolerance/malabsorption. However, in usually asymptomatic patients with rare diseases, who present with functional, non-specific, non-allergic gastrointestinal (GI) complaints the etiologic factors of food intolerance/malabsorption need to be evaluated. We summarize patients with rare diseases, such as primary epiploic appendagitis, beta-thalassemias minor, Gullo syndrome and anomaly of the inferior vena cava, who presented functional, non-specific, non-allergic GI complaints. As conclusion, these GI symptoms in patients with otherwise asymptomatic, rare diseases were due to fructose malabsorption, histamine-, lactose intolerance and Helicobacter pylori (H.p.) infection. A registered and experienced dietician was employed to design an individually-tailored diet which ensured effective treatments and H.p. infection was accordingly eradicated.

Background.The microbiome-derived trimethylamine-N-oxide (TMAO) and the intestinal permeability marker zonulin are considered to be linked with depression. Moreover, carbohydrate malabsorption (CMA) was shown to be associated with signs of depression. This study is aimed at investigating possible sex-specific associations between TMAO and zonulin and the presence of depressive signs in individuals with and without CMA.Methods.Serum concentrations of TMAO and zonulin were determined in 115 and 136 individuals with the presence or absence of CMA. All 251 study participants underwent lactase gene C/T-13910polymorphism genotyping and fructose H2/CH4breath testing. Additionally, they filled in the Beck Depression Inventory (BDI-II) questionnaire.Results.The median TMAO and zonulin serum concentrations were 2.66 (1.93–4.14)μmol/L and 40.83 (34.73–47.48) ng/mL. Serum TMAO levels were positively correlated with depressive symptoms (P=0.011,ρ=0.160). The strongest correlations were observed in 87 females (P=0.010,ρ=0.274) and 49 males (P=0.027,ρ=0.315) without CMA, whereas 115 patients with CMA showed no significant correlations. Zonulin tended to be negatively correlated with the BDI-II score in 49 males without CMA (P=0.062,ρ=−0.269).Conclusion.This study demonstrates a positive correlationship between the serum TMAO concentrations and the severity of depressive symptoms in females and males without CMA. Serum zonulin levels were negatively correlated with signs of depression in males without CMA. These findings suggest a gender-specific relationship between the serum TMAO and zonulin concentrations, depression, and CMA.

Background As trimethylamine-N-oxide (TMAO) is considered to be associated with various diseases, rapid determination of serum TMAO concentration is of clinical interest. This study is aimed at evaluating the analytical performance of a simple isocratic liquid chromatography-tandem mass-spectrometry (LC-MS/MS) method for TMAO quantification. Methods TMAO measurements were performed on a tandem mass spectrometer, SCIEX QTRAP 4500 (Applied Biosystems, Framingham, MA, USA), coupled with an Agilent 1260 Infinity HPLC system (Agilent Technologies, Santa Clara, CA, USA). The separation was performed on a Hypercarb Porus Grahitic Carbon (PGC) column (ThermoFisher Scientific, Waltham, MA, USA) by isocratic elution mode. Linearity, precision, recovery, and pre-analytical requirements of the TMAO LC-MS/MS method were evaluated. The imprecision acceptance criteria were defined 15%. We investigated sample stability at room temperature (RT) and assessed the serum TMAO concentrations of 188 healthy adults. Results The TMAO LC-MS/MS method was linear over the concentration range of 0.5 - 80 μmol/L. Intra- and inter-day precision ranged between 2.24 - 3.37% and 6.95 - 9.97%, recovery between 106 - 114%, respectively. At RT, serum samples were stable for 8 days. The median serum TMAO concentration of 188 healthy adults was 2.27 μmol/L (2.5th and 97.5th percentile: 0.75 - 10.46 μmol/L), respectively. Conclusions The isocratic TMAO LC-MS/MS shows a broad analytical range and meets the imprecision acceptance criteria of 15%. This method is a robust and reliable diagnostic tool for the assessment of the human TMAO status. Serum samples are stable at RT for at least 8 days.

This work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients. In total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study. A total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45.20%) were male. The following genotypes were significantly associated with the late-onset variant: M680I/E148Q (P = 0.004), M694V/E148Q (P

In patients with non-small cell lung cancer (NSCLC), epidermal growth factor receptor (EGFR) mutations have been associated with the tumor response to targeted therapy with EGFR tyrosine kinase inhibitors. Although labor intensive and not very sensitive (ie, an analytical sensitivity of 20%), direct sequencing is widely used for mutation detection. This study aimed at evaluating the potential of a test strip-based reverse-hybridization assay (EGFR StripAssay), designed for the simultaneous detection of 16 mutations in exons 18 to 21 of the EGFR gene, to sensitively identify EGFR mutation in DNA from NSCLC tissue samples. Formalin-fixed paraffin-embedded (FFPE) DNA samples from 59 patients with a histologically confirmed primary NSCLC tumor were used to compare the performance of the EGFR StripAssay against that of the Sanger sequencing. The EGFR StripAssay analysis identified 7 (11.8%) of 59 FFPE samples to carry an EGFR mutation, of which 4 (57.1%) and 3 (42.8%) samples were positive for exon 19 and 21 mutations, respectively. Of note, no sample was identified with EGFR exon 18 or 20 mutation. All mutations were confirmed by DNA sequencing. Using 50 ng of template DNA, the EGFR StripAssay demonstrated a detection limit of 1% mutant sequence in a background of normal DNA. The EGFR StripAssay is a fast and robust platform for the sensitive detection of EGFR mutation in FFPE DNA. Therefore, this assay could be considered as an alternative protocol to Sanger sequencing for EGFR mutation testing on limited-quantity samples.

This prospective cross-sectional study aimed to investigate the potential association between primary-adult lactose malabsorption, fructose malabsorption, tryptophan (TRP) metabolism and the presence of depressive signs. Overall 251 patients, who were referred for lactase gene C/T-13910 polymorphism genotyping and fructose hydrogen/methane breath testing, were included. All participants filled out the Beck Depression Inventory (BDI II). Serum concentrations of tryptophan (TRP), kynurenine (KYN), kynuric acid (KYNA), and TRP competing amino acids (leucine, isoleucine, valine, phenylalanine, tyrosine) were measured by high-pressure liquid-chromatography. Logistic regression analysis was performed with lactose malabsorption, fructose malabsorption and all potential biomarkers of TRP metabolism to assess the effect on signs of depression, defined as a BDI II score > 13. Primary-adult lactose malabsorption and fructose malabsorption was detected in 65 (25.90%) and 65 (25.90%) patients, respectively. Fructose malabsorption was significantly associated with BDI II score, whereas no such relationship was found for lactose malabsorption. Serum levels of TRP and TRP metabolites were no predictors of depression. The authors suggest to conduct further prospective longitudinal studies in order to get further insight of associations between carbohydrate malabsorption, biomarkers and mood disorders.

Food intolerance/malabsorption is caused by food ingredients, carbohydrates (mainly lactose and fructose), proteins (gluten), and biogenic amines (histamine) which cause nonspecific gastrointestinal and extra-intestinal symptoms. Here we focus on possible etiologic factors of intolerance/malabsorption especially in people with non-celiac gluten sensitivity (NCGS) or the so-called people without celiac disease avoiding gluten (PWCDAG) and histamine intolerance. Recognizing the recently described symptoms of NCGS (PWCDAG) we review correlations and parallels to histamine intolerance (HIT). We show that intestinal and extra-intestinal NCGS (PWCDAG) symptoms are very similar to those which can be found in histamine intolerance. After a detailed diagnostic workup for all possible etiologic factors in every patient, a targeted dietary intervention for single or possibly combined intolerance/malabsorption might be more effective than a short-term diet low in fermentable oligo-, di- and monosaccharides and polyols (FODMAP) or the untargeted uncritical use of gluten-free diets.

Background This study aimed to evaluate the diagnostic performance of a novel nonquantitative methylation-specific reverse hybridization (MSRH) assay to detect secreted frizzled-related protein 2 ( SFRP2) promotor methylation in fecal DNA. Methods SFRP2 promoter methylation was investigated in stool DNA isolated from 18 colorectal cancer (CRC) patients and 22 healthy controls using the MSRH assay based on methylation-specific DNA amplification followed by reverse hybridization of biotinylated amplicons to sequence-specific methylation detection probes, with MethyLight serving as a reference method. Results SFRP2 promotor methylation as determined by MSRH vs. MethyLight showed a sensitivity and specificity of 61.1% and 86.3% vs. 77.7% and 77.3%, respectively. Moderate agreement (κ = 0.54, 95% confidence interval [95% CI], 0.29-0.80, pConclusions Our findings, although limited by the small sample size, do not support the use of the MSRH assay for CRC screening in stool.

Objectives Helicobacter pylori infection is considered to alter the bacterial flora in the upper gastrointestinal tract. This study aimed at investigating the presence of small intestinal bacterial overgrowth (SIBO) in patients with active H. pylori infection assessed by functional breath testing. Design and methods A total of 109 outpatients, who were referred for the H. pylori 13C-urea breath test (13C-UBT) by general practitioners and specialists, were also tested for the presence of SIBO by the glucose hydrogen (H2)/methane (CH4) breath test (HMBT). A detailed anamnesis was carried out about the history of H. pylori infection, eradication therapies, proton pump inhibitor intake, and comorbidities. Results In total, 36/109 (33.0%) patients had a positive H. pylori 13C-UBT, and 35/109 (32.1%) patients had a positive glucose HMBT, the latter being indicative of SIBO. Interestingly, individuals with a positive H. pylori 13C-UBT were significantly more often associated with a positive glucose HMBT (p = 0.002). Cohen's κ measuring agreement between the 13C-UBT and the glucose HMBT was 0.31 (confidence intervals: 0.12–0.50) (p = 0.001). Altogether, 19 of 54 (35.2%) patients, who had completed up to four eradication therapies, were diagnosed with SIBO by HMBT. Conclusions H. pylori infection was found to be significantly associated with the presence of SIBO as determined by functional breath testing. In addition, SIBO rates appeared to have increased after completed eradication therapies. However, further longitudinal studies are warranted to fully elucidate the relationship and treatment modalities of coincident H. pylori infection and SIBO.

Introduction: The aim of this study was to assess pneumatic tube system (PTS) alteration on platelet function by the light transmission aggregometry (LTA) and whole blood aggregometry (WBA) method, and on the results of platelet count, prothrombin time (PT), activated partial thromboplastin time (APTT), and fibrinogen. Materials and methods: Venous blood was collected into six 4.5 mL VACUETTE® 9NC coagulation sodium citrate 3.8% tubes (Greiner Bio-One International GmbH, Kremsmünster, Austria) from 49 intensive care unit (ICU) patients on dual anti-platelet therapy and immediately hand carried to the central laboratory. Blood samples were divided into 2 Groups: Group 1 samples (N = 49) underwent PTS (4 m/s) transport from the central laboratory to the distant laboratory and back to the central laboratory, whereas Group 2 samples (N = 49) were excluded from PTS forces. In both groups, LTA and WBA stimulated with collagen, adenosine-5’-diphosphate (ADP), arachidonic acid (AA) and thrombin-receptor-activated-peptide 6 (TRAP-6) as well as platelet count, PT, APTT, and fibrinogen were performed. Results: No statistically significant differences were observed between blood samples with (Group 1) and without (Group 2) PTS transport (P values from 0.064 – 0.968). The AA-induced LTA (bias: 68.57%) exceeded the bias acceptance limit of ? 25%. Conclusions: Blood sample transportation with computer controlled PTS in our hospital had no statistically significant effects on platelet aggregation determined in patients with anti-platelet therapy. Although AA induced LTA showed a significant bias, the diagnostic accuracy was not influenced.

Diagnosis of histamine intolerance (HIT) has been based on low serum diamine oxidase (DAO) values, functional gastrointestinal disorders and improvement of symptoms with a histamine-reduced diet (HRD). In a retrospective analysis of outpatients' charts we identified 101 patients with HIT. After a median of 13 months, a questionnaire was distributed to the patients so that they could be classified into four diet-compliance groups. Calculated with all 101 patients we found an increase of serum DAO values due to a HRD. In the 63 patients that completed the questionnaire, we found that 50 patients had improvement of symptoms or no continuing symptoms. A significant increase of serum DAO levels was found in the patients with strict and occasional diet compliance. Therefore, we demonstrate that a HRD is not only improving symptoms in HIT, but is causing an increase in serum DAO values that correlates with the degree of diet compliance.

Statin-induced myopathy is reported to be significantly associated with the SCLO1B1 c.521T>C polymorphism. To date, SLCO1B1 c.521T>C epidemiologic data for the Austrian population is still lacking. Therefore, this study aimed at assessing the genotype and allele frequencies of the SLCO1B1 c.521T>C variant in Austria and evaluating the clinical performance of 2 commercial real-time polymerase chain reaction (PCR) assays. Genomic DNA isolated from 181 healthy individuals was analyzed for the SLCO1B1 c.521T>C polymorphism in a comparative manner using the SLCO1B1 c.521T>C RealFastTM Assay and the BioPro SLCO1B1 Genotyping real-time PCR Kit. A total of 10 (5.5%) and 44 (24.3%) out of 181 individuals were SLCO1B1 c.521T>C C/C-homo- and ­C/T-heterozygotes, the genotypes indicative of high and increased risk of statin-induced myopathy, respectively. The SLCO1B1 c.521C allele frequency rate was 17.7%. In conclusion, the genetic predisposition of elevated statin-induced myopathy risk in the Austrian population is frequent. Both real-time PCR assays under investigation here are reliable and robust SLCO1B1 c.521T>C genotyping tools in clinical routine.

Background Recently, several manufacturers have launched automated urinalysis platforms. This study aimed to compare the diagnostic performance of the UF-5000 (Sysmex Corporation, Kobe, Japan) and the cobas® u 701 (Roche Diagnostics, Rotkreuz, Switzerland) urine sediment analyzers with manual phase-contrast microscopy as the reference method. Methods A total of 195 urine samples were analyzed on both automated platforms and subjected to manual microscopic examination. Agreement was assessed by Cohen’s kappa (κ) analysis. Sensitivities and specificities were calculated. Results The agreement of the UF-5000 with manual microscopy was almost perfect (κ > 0.8) for red (RBC) and white blood cells (WBC), renal tubular epithel cells, hyaline casts, bacteria (BACT) and yeast (YLC), substantial (κ = 0.61–0.80) for squamous epithel cells (SEC) and pathologic casts, and moderate (κ = 0.41–0.60) for transitional epithel cells. The cobas® u 701 showed substantial agreement (κ = 0.61–0.80) for WBC, moderate agreement (κ = 0.41–0.60) for hyaline casts, and fair agreement (κ = 0.21–0.40) for RBC, SEC, non-squamous epithel (NEC), pathologic casts, BACT and YLC. The UF-5000 sensitivities ranged between 98.5% for RBC and 83.3% for pathological casts. The cobas® u 701 showed sensitivities between 83.0% for WBC and 31.6% for YLC. Conclusions The UF-5000 (Sysmex) analyzer showed a better diagnostic agreement with manual phase-contrast microscopy compared to the cobas® u 701 (Roche) module. The Sysmex platform showed reliable results for urine sediment analysis. However, pathological samples should be verified with manual microscopy.

Healthy human blood contains only a trace amount of methemoglobin (Hb M), less than 1%. In Hb M iron is present in the oxidized ferric state (Fe3+) not in the reduced ferrous form (Fe2+) and this reduces the ability of hemoglobin to bind oxygen. The described rare hemoglobin variant Hb M‑Hyde Park (also known as Hb M-Akita) results from the substitution of amino acid tyrosine by histidine at position 93 of the beta-globin chain of hemoglobin. The rare Hb variant Hb M‑Hyde Park (Hb M‑Akita) is mainly inherited autosomal dominant and causes methemoglobinemia. Due to the low frequency of inherited Hb M variants, the diagnosis is challenging. Here, we here report on a family with Hb M‑Hyde Park (Hb M‑Akita) whose members demonstrated Hb M > 10%, but were, asymptomatic except for chronic cyanosis. Due to human mobility and migration other hemogobin variants, such as beta-thalassemia minor have spread to Austria . A genetic combination of two different hemoglobin variants may result in severe anemia. Genetic counseling for patients with hemoglobin variants, including Hb M‑Hyde Park (Hb M‑Akita) and beta-thalassemia minor, is essential.

Introduction: Standardized pre-analytical blood sample procedures for the analysis of circulating cell-free DNA (ccfDNA) are still not available. Therefore, the present study aimed at evaluating the impact of storage conditions related to different times (24 and 48 h) and temperatures (room temperature (RT) and 4 - 8 °C) on the plasma ccfDNA concentration of blood samples drawn into Cell-Free DNA collection tubes (Roche Diagnostics GmbH, Mannheim, Germany). Materials and methods: Venous blood from 30 healthy individuals was collected into five 8.5 mL Cell-Free DNA Collection Tubes (Roche Diagnostics GmbH) each. Plasma samples were processed at time point of blood collection (tube 1), and after storage under the following conditions: 24 h at RT (tube 2) or 4-8 °C (tube 3), and 48 h at RT (tube 4) or 4 - 8 °C (tube 5). Circulating cell-free DNA concentrations were determined by EvaGreen chemistry-based droplet digital PCR (ddPCR). Results: No statistically significant differences between median (interquartile range) plasma ccfDNA concentrations (ng/mL) at time point of blood collection (3.17 (2.13 – 3.76)) and after storage for 24 h (RT: 3.02 (2.41 – 3.68); 4-8 °C: 3.21 (2.19 – 3.46)) and 48 h (RT: 3.13 (2.10 – 3.76); 4-8 °C: 3.09 (2.19 – 3.50)) were observed (P values from 0.102 – 0.975). Conclusions: No unwanted release of genomic DNA from white blood cells could be detected in plasma samples after tube storage for 24 and 48 h regardless of storage temperature.

Introduction: Reliable determination of hepcidin-25, a key regulator of iron metabolism, is important. This study aimed at evaluating the performance of the Hepcidin-25 Liquid Chromatography-Tandem Mass-Spectrometry (LC-MS/MS) Kit (Immundiagnostik AG, Bensheim, Germany) for quantification of the hepcidin-25 protein. Materials and methods: Precision, accuracy, linearity, and preanalytical requirements of the liquid-chromatography high-resolution massspectrometry (LC-HR-MS) method were evaluated. The imprecision and bias acceptance criteria were defined ≤ 15%. We investigated sample stability at room temperature (RT) and after repeated freeze and thaw cycles. Additionally, we assessed serum hepcidin-25 concentrations of 165 healthy adults referred for a medical check-up. Results: The hepcidin-25 LC-MS/MS assay was linear over the concentration range of 3 – 200 ng/mL. Within- and between-run precision ranged between 1.9 – 8.6% and 5.1 – 12.4%, respectively. The mean bias of the low and high control material was - 2.7% and 2.1%, respectively. At RT, serum samples were stable for 3 h (mean bias + 0.3%). After two and three freeze and thaw cycles, hepcidin-25 concentrations showed a bias of +8.0 and + 20%, respectively. Of 165 healthy adults, 109 females had a significantly lower median of 8.42 (range: 1.00 – 60.10) ng/mL compared to 56 males with 15.76 (range: 1.50 – 60.50) ng/mL (P = 0.002). Conclusions: The hepcidin-25 LC-MS/MS kit shows a broad analytical range and meets the imprecision and bias acceptance criteria of ≤ 15%. Serum samples can be stored at RT for 3 h and resist up to two freeze and thaw cycles.

Background and pilot study Celiac disease (CD) or gluten malabsorption is a well-defined autoimmune disorder characterized by mucosal gastrointestinal reaction to ingested gluten proteins. The necessary treatment for CD is a gluten-free diet. However, up to 30% of celiac patients experience persistent or recurring abdominal complaints despite following an exact gluten-free diet. This condition was named refractory, non-responsive celiac disease. Other food ingredients, such as carbohydrates and biogenic amines, also influence and impair digestion, and may cause these abdominal symptoms. In this retrospective pilot study, we have reported on 20 non-responsive, celiac disease patients, with persistent abdominal complaints, for longer than 6 months. These patients were evaluated for extra food intolerance/malabsorption, including fructose malabsorption, histamine-, lactose intolerance, and Helicobacter pylori (H.p.) infection. Results and conclusions The results demonstrate that 18 of the 20 refractory, non-responsive celiac disease patients presented various, additional food intolerance/malabsorption and/or H.p. infection. Seven NRCD patients demonstrated lactose intolerance, 7 showed fructose malabsorption, 11 had additional histamine intolerance and 6 had signs of H.p. infection or combinations thereof. If present, then eradication of H.p. was performed. Histamine intolerance, was found in more than 50% of patients, and it seems to play an important role in non-responsive celiac disease. A registered dietician continued to help with, and to improve, the patients’ gluten-free diet. Furthermore, additional food intolerance/malabsorption considerations were included in the individual, dietary recommendations.

Cardiovascular risk is increased in obese subjects. Nevertheless, some overweight and obese remain cardiometabolically healthy (CMH), and normal-weight persons develop cardiovascular disease (CVD). Herein, we investigate the potential of branched-chain amino acids (BCAAs) to identify an increased CVD risk in a cross-sectional study of 666 adults and juveniles (age 25.3±12.8years), classified as lean, overweight or obese. Cardiometabolic groups were defined by cutoffs of systolic blood pressure130mmHg, diastolic blood pressure85mmHg, glucose125mg/dl, triglycerides150mg/dl, HDL-cholesterol40mg/dl (males), HDL-cholesterol50mg/dl (females) and HOMA-IR5. CMH had ≤1 cutoff, and cardiometabolically abnormal (CMA) had ≥2 cutoffs. Amino acids were measured by high-pressure lipid chromatography after precipitation of serum with perchloric acid and derivatization with o-phthalaldehyde. Valine correlated with 5, leucine correlated with 3 and isoleucine correlated with 5 of the cardiac risk classification factors. Valine and leucine were significantly higher in the obese (P.001, P=.015, respectively), overweight (P.001, P=.015, respectively) and lean (P=.024, P=.012, respectively) CMA compared to CMH subjects. Isoleucine showed except of the lean group the same results. Taken together, BCAAs, especially valine and leucine, are proposed as a cardiometabolic risk marker independent of body mass index (BMI) category.

BACKGROUND: The branched-chain amino acids (BCAAs) valine, leucine and isoleucine are reported to influence erythropoiesis and the human iron status. Large study cohorts encompassing biomarkers of iron metabolism and BCAAs are still lacking. METHODS: We investigated potential interactions between blood concentrations of all three BCAAs valine, leucine and isoleucine and biomarkers of iron metabolism [i.e., hemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), iron, transferrin, ferritin, transferrin saturation, soluble transferrin receptor (sTfR)] in 430 outpatients referred for a medical health check-up. Linear regression models were performed to assess possible associations between variables. RESULTS: All three BCAAs were positively correlated with Hb, ferritin and the sTfR (r-values: 0.145–0.382; P values

Background So far, studies on possible association of plasma lipid levels and depressive disorder are contradictory. This prospective work aimed at assessing a plasma lipid profile in individuals with major depression and healthy controls. Methods In total, 94 patients with major depression and 152 healthy controls were included in this prospective study. After an overnight fasting state of 12 h they underwent blood drawing for triglyzerides (TG), total cholesterol, low-density lipoprotein (LDL)- and high-density lipoprotein (HDL)-cholesterol measurements. All participants were evaluated in a clinical interview and filled out the self-rating Beck Depression Inventory (BDI-II) scale to identify depressive symptomatology. Results Ninety-four patients with major depression showed significantly higher median (interquartile range) plasma TG levels (108.0 [75.8–154.1] vs. 84.0 [63.0–132.2] mg/dL, P = 0.014) and significantly lower HDL-cholesterol levels (55.0 [46.9–123.0] vs. 61.5 [47.4–72.6] mg/dL, P = 0.049) compared to 152 individuals without depression, respectively. Total and LDL-cholesterol concentrations were observed slightly higher in patients with major depression. Significant positive correlation was found between TG, total cholesterol and LDL-cholesterol concentrations and the BDI-II score (p = 0.027, 0.048 and 0.018), and in tendency negative correlation between HDL-cholesterol levels and the BDI-II score (P = 0.091), respectively. Conclusions Depressive individuals were found with adverse plasma lipid patterns of higher TG and lower HDL-cholesterol levels compared to healthy controls. On this basis, the authors would suggest the implementation of routine lipid measurements in order to stratify these patients by their cardiovascular risk.

Background Current literature proposes associations between homocysteine (HCY), folic acid (FA), vitamin B12 metabolism and depression. However, the exact underlying biological mechanisms remain unclear. This study aimed at evaluating a possible link between primary adult-type lactose malabsorption (PALM), HCY, FA and vitamin B12 metabolism and depressive disorder. Methods Plasma levels of HCY, FA and vitamin B12 were determined in 78 patients with PALM and 160 individuals with lactase persistence sub-grouped by the presence or absence of major depression. Results In 78 patients with PALM, the subgroup of 22 individuals with major depression showed significantly higher median (interquartile range) HCY (10.10 [8.46–12.03] vs. 8.9 [7.54–9.86] μmol/L, p = 0.029) and lower plasma FA levels (5.7 [4.68–9.14] vs. 6.95 [5.24–10.56] μmol/L, p = 0.272) compared to the subgroup of 56 individuals without depression, respectively. No such associations could be observed for those 160 individuals without PALM (i.e., lactase persistence) Plasma HCY levels were positively correlated with depressive symptoms (p = 0.052), and showed negative correlations with FA (p = < 0.001) and vitamin B12 (p = 0.029), respectively. Conclusion Depressed individuals with PALM were found with significantly higher HCY and lower FA levels compared to non-depressed individuals with PALM, however, this association was absent in the subgroup of lactase persistent individuals. These findings suggest an association between increased HCY levels, lactose malabsorption and depression.

Beta-trace protein (BTP) is a low-molecular-weight glycoprotein, which may serve as an endogenous biomarker of kidney function and cardiovascular risk.We examined cardiovascular and all-cause mortality according to BTP concentrations in 2962 individuals referred for coronary angiography from the Ludwigshafen Risk and Cardiovascular Health study and in 907 patients with Type 2 diabetes mellitus undergoing haemodialysis from the German Diabetes and Dialysis (4D) study.Haemodialysis patients had considerably higher median (interquartile range) BTP concentrations [6.00 (4.49-7.96) mg/L] and experienced a 4-fold increased mortality rate compared with coronary angiography patients [BTP concentration: 0.55 (0.44-0.67) mg/L]. After adjustment for age, sex, cardiovascular risk factors and creatinine, 4D patients in the highest quartile (7.96 mg/L) had a 1.6-fold increased rate of all-cause mortality [hazard ratio (HR) 1.62, 95% confidence interval (CI) 1.19-2.20] compared with the lowest quartile (4.49 mg/L) (P = 0.002) In patients undergoing coronary angiography, the adjusted HRs (95% CI) for all-cause and cardiovascular mortality were 1.23 (1.0-1.51) and 1.27 (0.99-1.63) in the highest (0.67 mg/L) compared with the lowest (0.44 mg/L) quartile (P = 0.043 and 0.062). In both cohorts, the BTP/creatinine ratio was a stronger predictor of all-cause and cardiovascular mortality compared with BTP.BTP was associated with all-cause mortality independently of renal function in haemodialysis patients. The BTP/creatinine ratio was more predictive for all-cause and cardiovascular mortality in haemodialysis patients and individuals referred for angiography compared with BTP as single marker.

Benign pancreatic hyperenzymemia (Gullo syndrome) is characterized by a more than threefold increase of the pancreatic enzymes lipase and amylase in the absence of a pancreatic disease over a period of more than 1 year, with elevations and significant undulations of pancreatic enzyme serum concentrations occurring on a day-to-day basis for 5 consecutive days. Nonspecific abdominal complaints may be caused by carbohydrate and/or protein malabsorption. We report a patient with benign pancreatic hyperenzymemia with lactose and histamine malabsorption; the symptoms of gastrointestinal malabsorption were treated successfully with an individually tailored lactose- and histamine-free diet.

Essentials In platelet function testing, standardized internal controls (IQC) are not commercially provided. Platelet function testing was performed daily on aliquoted pooled platelet concentrates. Pooled platelet concentrates showed stability for control purposes from Monday to Friday. Pooled platelet concentrates provide the necessary steadiness to serve as IQC material. SummaryBackground Standardized commercially available control material for internal quality control (IQC) of light transmission aggregometry (LTA) is still lacking. Moreover, the availability of normal blood donors to provide fresh platelets is difficult in small laboratories, where ‘volunteers’ may be in short supply. Objectives To evaluate the implementation of buffy-coat-derived pooled platelet concentrates (PCs) for IQC material for LTA. Methods We used buffy-coat-derived pooled PCs from the blood bank as IQC material for LTA. On each weekend one PC was prepared (> 200 mL) and aliquoted from the original storage bag on a daily basis in four baby bags (40–50 mL), which were delivered from Monday to Friday to our laboratory. The IQC measurements of at least 85 work-weeks (from Monday to Friday) were evaluated with this new IQC material. LTA was performed on a four-channel Chronolog 700 Aggregometer (Chronolog Corporation, Havertown, PA, USA) (agonists: collagen, adenosine diphosphate [ADP], arachidonic acid [AA] and thrombin receptor activator peptide-6 [TRAP-6]). Results The medians of platelet aggregation from IQC measurements with collagen, ADP and AA from Monday to Friday were 68.0–59.5, 3.0–2.0 and 51.0–50.0%, respectively, and the mean of platelet aggregation with TRAP-6 was 71.2–66.4%. Conclusions Buffy-coat-derived pooled PCs serve as a reliable and robust IQC material for LTA measurements and would be beneficial for the whole laboratory procedure and employees’ safety.

Primary Epiploic Appendagitis (PEA) is a rare cause of acute or subacute abdominal complaints and non-migratory pain. Usually the diagnosis of PEA is made when Computed Tomography (CT) reveals characteristic figures. Nonspecific abdominal complaints including diffuse abdominal pain may be caused by carbohydrate and/or protein malabsorption. We report a case of a patient with PEA who recovered without medication or surgical treatment within a few days. Eight months later, he was diagnosed with lactose- and histamine malabsorption and Helicobacter pylori infection. The malabsorption was treated successfully with an individually-tailored diet free of culprit triggers and the Helicobacter pylori infection was eradicated. A localized non-migratory abdominal pain caused by PEA needs to be differentiated from nonspecific abdominal complaints due to malabsorption and Helicobacter pylori infection.

Objectives The leukocyte-derived myeloperoxidase (MPO), the nitric oxidase synthase (NOS) inhibitor asymmetrical dimethyl-arginine (ADMA) and the renin-angiotensin-aldosterone-system (RAAS) are associated with cardiovascular diseases (CVD). This study aimed to investigate potential interactions between the RAAS, ADMA and MPO in cardiovascular risk patients. Design and methods All in all, 1446 patients, who were referred to coronary angiography, were included in this prospective study. MPO, ADMA and circulating serum markers of the RAAS system were measured. Additionally, all-cause and CVD mortality, cardiovascular risk factors, inflammatory and endothelial markers, and medication use were investigated. Results MPO concentrations were significantly associated with ADMA (P = 0.002), renin (P = 0.001) and angiotensin II levels (P = 0.015), whereas ADMA was in tendency associated with renin (P = 0.059) and significantly with angiotensin II (P = 0.001). Both, ADMA and MPO were inversely correlated with angiotensinogen, angiotensin I and the angiotensin I/angiotensin II ratio. ADMA and angiotensin II were found stronger independent risk factors for all-cause and CVD mortality compared to MPO. Conclusions MPO concentrations were significantly associated with higher ADMA levels and an up-regulated circulating RAAS in patients with CVD. Moreover, serum levels of ADMA and angiotensin II were shown to be more predictive for all-cause and CVD mortality compared to MPO.

To the Editor: During the last decade the interest in using circulating cell-free DNA (ccfDNA)1 as a biomarker for the early diagnosis, prognosis, and monitoring of a variety of clinical conditions has increased rapidly. In daily clinical practice, it has been shown that preanalytical variables such as blood sampling, handling-procedurevariations, and blood storage conditions affect the ccfDNA concentration in human plasma (1). In this respect, optimal handling of blood samples between venipuncture and plasma preparation may be considered essential for downstream processes (1, 2) since time delay and/or agitation could trigger the release of genomic DNA from white blood cells (1). To reduce laboratory turnaround time, sample transport by pneumatic tube systems (PTS) has been established in many hospitals. However, rapid accelerations and decelerations during the PTS transport may cause shear stress and can potentially affect various laboratory measurements for coagulation, clinical chemistry, hematology, or blood gas analyses (3). At present, the literature lacks studies investigating the impact of PTS transport on quantitative ccfDNA measurements. Therefore, we compared ccfDNA plasma concentrations between paired whole …

Objectives Recently, an intermediate lactose intolerance (LI) phenotype based on the lactase gene (LCT) C/T-13910 polymorphism was proposed. However, a multifactorial genesis of LI phenotypic variation including endogenous and exogenous factors cannot be ruled out. Therefore, this study was conducted to investigate a possible association between serum diamine oxidase (DAO) and LI phenotypes in individuals with lactose malabsorption (LM). Design and methods A total of 121 ambulatory patients with LM were included in this retrospective study. The lactose hydrogen breath test (LHBT) and serum DAO activity measurements were performed on the same day. A thorough anamnesis with respect to gastrointestinal symptoms was carried out at the initial consultation. Results In total, 44 (36.4%) patients with a serum DAO activity

Background: Diagnosis of small intestinal bacterial overgrowth (SIBO) remains challenging. This study aimed at proving the diagnostic concept of carbohydrate-specific SIBO (cs-SIBO) using glucose, fructose and sorbitol hydrogen (H2)/methane (CH4) breath testing (HMBT). Methods: In this study 125 patients referred to our outpatient clinic for SIBO testing were included. All individuals underwent glucose (50 g), fructose (25 g) and sorbitol (12.5 g) HMBT at 3 consecutive days. Patients with cs-SIBO (i.e. early H2/CH4 peak) were given rifaximin (600 mg/day) in a 10-day treatment. HMBT results were reassessed in a subset of patients 3–6 months after antibiotic therapy. In view of cs-SIBO diagnosis, agreements between HMBT results obtained for different sugars were calculated using Cohen’s kappa (κ) with 95% confidence intervals (CIs). Results: A total of 59 (47.2%) patients presented an early H2/CH4 peak with one or more sugars. Among these, 21 (16.8%), 10 (8.0%) and 7 (5.6%) individuals had a positive HMBT result with either glucose, fructose or sorbitol, respectively. Another 21 (16.8%) patients with a positive glucose HMBT result were also found positive with an early H2/CH4 peak obtained after ingestion of fructose and/or sorbitol. Fair agreement was observed between glucose and fructose (κ = 0.26, p = 0.0018) and between glucose and sorbitol (κ = 0.18, p = 0.0178) HMBT results. Slight agreement was observed between fructose and sorbitol (κ = 0.03, p = 0.6955) HMBT results only. Successful antibiotic therapy with rifaximin could be demonstrated in 26/30 (86.7%) of patients as indicated by normal HMBT results and symptom remission. Conclusions: Combined glucose, fructose and sorbitol HMBT has the potential to optimize cs-SIBO diagnosis. Furthermore, the majority of patients with cs-SIBO seem to benefit from rifaximin therapy regardless of its carbohydrate specificity.

Primary adult-type lactose malabsorption (PALM) is a widespread inherited autosomal recessive condition, which is considered to be associated with osteoporosis. This prospective study aimed at assessing the 25-hydroxy-vitamin D (25(OH)D) status and serum CrossLaps levels in individuals with PALM and normal controls.All participants (n=210) underwent genotyping for the LCT C/T-13910 polymorphism, 25(OH)D and CrossLaps measurements and clinical examinations. In addition, the anthropometric data (that is, height, weight and body mass index) were determined.Fifty-five individuals with PALM (that is, LCT C/C-13910 homozygotes) showed lower 25(OH)D (mean: 24.95±10.04 vs 28.59±9.56 ng/ml, P=0.018) and higher CrossLaps serum levels (mean: 0.46±0.31 vs 0.43±0.49 ng/ml, P=0.251) compared with 155 normal controls (that is, LCT C/T-13910 hetero- or T/T-13910 homozygotes). Anthropometric data were similar between PALM probands and controls.Individuals with PALM were found to have lower 25(OH)D and higher CrossLaps serum levels compared with normal controls. In order to preserve life-long bone health, routine 25(OH)D and CrossLaps serum measurements should be performed in individuals with PALM.

The aim of this retrospective study was to analyze the concomitant prevalence rates for lactose malabsorption (LM), fructose malabsorption (FM), and histamine intolerance (HI) in patients with so far unexplained gastrointestinal (GI) symptoms. A total of 439 outpatients, who presented unclear abdominal discomfort, underwent lactose (50 g) and fructose (25 g) hydrogen (H2) breath tests. Additionally, serum diamine oxidase (DAO) measurements were performed. Individuals with low serum DAO activity (

A growing number of rapid Helicobacter pylori antibody tests are commercially available now, however, some of these tests are often used without sufficient evaluation. The aim of this study was to evaluate the performance of a commercially available rapid whole-blood immunoassay (gabControl® H. pylori; gabmed GmbH, Koln, Germany), for the qualitative detection of IgG antibodies against H. pylori with the 13C-urea breath test (13C-UBT) serving as a reference method. A total of 108 consecutive outpatients, who were referred for 13C-UBT by general practitioners and specialists, were also tested for H. pylori infection by the gabControl® H. pylori immunoassay. The clinical performance of this rapid whole-blood test was evaluated by determining the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) compared to the 13C-UBT. The agreement between the two tests was calculated using Cohen’s Kappa (κ) with 95 % confidence intervals (CI). The agreement between the gabControl® H. pylori assay and the 13C-UBT was 0.62 [95 % confidence intervals (CIs) 0.47–0.76; P