External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA schemes and educational activities. Currently, ERNDIM provides 16 different EQA schemes including quantitative schemes for various metabolite groups, and interpretive schemes such as diagnostic proficiency testing (DPT). DPT schemes focus on the ability of laboratories to correctly identify and interpret abnormalities in authentic urine samples across a wide range of IMDs. In the DPT schemes, six samples each year are distributed together with clinical information. Laboratories choose and perform the tests needed to reach a diagnosis. Data were collected on 345 samples, distributed to up to 105 laboratories worldwide. Diagnostic proficiency (the % of total points possible for all participating laboratories within a scheme for analysis and interpretation) ranged widely: amino acid disorders (n = 20), range 33%-100%, mean 84%; organic acid disorders (n = 35), range 14%-100%, mean 84%; lysosomal storage disorders (n = 13), range 20%-97%, mean 73%; purine/pyrimidine disorders (n = 9), range 37%-100%, mean 70%; miscellaneous disorders (n = 8), range 17%-100%, mean 65%; no IMD, range 65%-95%, mean 85%. When a sample with the same disorder was distributed in a subsequent survey, performance improved in 75 cases with no improvement seen in 32, suggesting overall improvement of performance. ERNDIM diagnostic proficiency testing is a valuable activity which can help to assess laboratory performance, identify methodological/technical challenges, be informative during quality audits and contribute to a better clinical appreciation of diagnostic uncertainty.

• Klíčová slova
• ERNDIM, diagnostic testing, external quality assurance, inborn error of metabolism, inherited metabolic disease, proficiency,
• MeSH
• diagnostické techniky a postupy MeSH
• laboratoře MeSH
• lidé MeSH
• lyzozomální nemoci z ukládání * MeSH
• metabolické nemoci * diagnóza   genetika   moč   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Available diagnostic tests in the pharmacy and the role of the pharmacist The topic of in vitro diagnostic tests is a relatively robust area of medical devices. It includes tests used in the providing of healthcare, i.e., intended for healthcare professionals, and a group of tests intended directly for consumers (Direct-To-Consumer tests). The subject of the following article is diagnostic tests intended for home in vitro self-testing of patients in the Czech Republic. The aim is to present a basic overview of the available tests, to present the principle of diagnostic tests and in selected groups of tests to summarise the most important information for the correct performance of tests that should be part of pharmaceutical care.

• Klíčová slova
• Pharmaceutical Care, diagnostic device, self-testing.,
• MeSH
• diagnostické testy rutinní * MeSH
• farmaceuti * MeSH
• farmaceutické služby * MeSH
• lidé MeSH
• role odborníka * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing reporting practice of genetic tests has been recognised by the External Quality Assessment (EQA), providers and laboratories. The ESHG Genetic Services Quality Committee has produced reporting guidelines for the genetic disciplines (biochemical, cytogenetic and molecular genetic). These guidelines give assistance on report content, including the interpretation of results. Selected examples of genetic test reports for all three disciplines are provided in an annexe.

• MeSH
• cytogenetické vyšetření MeSH
• diagnostické techniky molekulární MeSH
• genetické poradenství MeSH
• genetické testování normy   MeSH
• lidé MeSH
• prenatální diagnóza MeSH
• zajištění kvality zdravotní péče MeSH
• zveřejnění normy   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• směrnice pro lékařskou praxi MeSH

Exercise ECG, coronary arteriography and left ventriculography were performed in 200 patients with suspected or confirmed coronary artery disease (CAD). The authors compared the diagnostic value of R wave amplitude changes and ST segment depressions in V5. Evaluation of the results showed a near uniform sensitivity of the two methods. R wave amplitude changes in V5 did not correlate with the presence and degree of CAD nor with the number of affected coronary arteries. In contrast to the absence of a definite correlation with topical left ventricular dysfunction there was a correlation with the ejection fraction. The study showed that in some instances R wave amplitude changes may complement the evaluation of exercise testing based on ST segment depressions. Yet, R wave amplitude changes alone during exercise testing lack a sufficient predictive accuracy for being adopted as a routine criterion of coronary insufficiency.

• MeSH
• dospělí MeSH
• elektrokardiografie * MeSH
• koronární angiografie MeSH
• koronární nemoc diagnóza   diagnostické zobrazování   MeSH
• lidé středního věku MeSH
• lidé MeSH
• srdce diagnostické zobrazování   MeSH
• tepový objem MeSH
• zátěžový test * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; however, the utility of genetic testing in older adults remains poorly understood, partly due to age-based restrictions on testing access. To better evaluate the diagnostic yield and clinical utility of genetic testing in this population, we analyzed data from adults aged ≥50 years with CKD who were assessed in a specialized kidney genetics clinic. Methods: We studied a cohort of 125 adults with CKD aged ≥50 years at the time of genetic testing. Genetic testing included gene panels targeting disease-related genes based on clinical phenotype, and/or exome sequencing for additional monogenic causes if the initial panel testing was inconclusive. Results: Pathogenic variants in disease-related genes were identified in 38% of patients. The highest diagnostic yield (48%) was in patients aged 50-54 years. The most common diagnosis post-testing was glomerulopathies (32%). Clinical utility, shown through the case series, included modifications to treatment and clinical management, as well as a reduction in the diagnostic odyssey. Conclusions: Our findings from a dedicated Kidney Genetics Clinic show that genetic testing in adults ≥50 years with CKD has significant diagnostic and clinical utility. These results support guideline recommendations that there should be no upper age limit for genetic testing. Future research in unselected CKD populations is needed to establish the broader applicability and feasibility of genetic testing in older adults.

• Klíčová slova
• chronic kidney disease, exome sequencing, genetic kidney disease, genetic testing, older adults,
• MeSH
• chronická renální insuficience * genetika   diagnóza   MeSH
• genetická predispozice k nemoci MeSH
• genetické testování * metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• sekvenování exomu MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

This study aims to evaluate the diagnostic accuracy of artificial intelligence in detecting apical pathosis on periapical radiographs. A total of twenty anonymized periapical radiographs were retrieved from the database of Poznan University of Medical Sciences. These radiographs displayed a sequence of 60 visible teeth. The evaluation of the radiographs was conducted using two methods (manual and automatic), and the results obtained from each technique were afterward compared. For the ground-truth method, one oral and maxillofacial radiology expert with more than ten years of experience and one trainee in oral and maxillofacial radiology evaluated the radiographs by classifying teeth as healthy and unhealthy. A tooth was considered unhealthy when periapical periodontitis related to this tooth had been detected on the radiograph. At the same time, a tooth was classified as healthy when no periapical radiolucency was detected on the periapical radiographs. Then, the same radiographs were evaluated by artificial intelligence, Diagnocat (Diagnocat Ltd., San Francisco, CA, USA). Diagnocat (Diagnocat Ltd., San Francisco, CA, USA) correctly identified periapical lesions on periapical radiographs with a sensitivity of 92.30% and identified healthy teeth with a specificity of 97.87%. The recorded accuracy and F1 score were 96.66% and 0.92, respectively. The artificial intelligence algorithm misdiagnosed one unhealthy tooth (false negative) and over-diagnosed one healthy tooth (false positive) compared to the ground-truth results. Diagnocat (Diagnocat Ltd., San Francisco, CA, USA) showed an optimum accuracy for detecting periapical periodontitis on periapical radiographs. However, more research is needed to assess the diagnostic accuracy of artificial intelligence-based algorithms in dentistry.

• Klíčová slova
• artificial intelligence (AI), automatic detection, diagnosis, diagnostic test accuracy, periapical periodontitis, two-dimensional radiographs,
• MeSH
• diagnostické testy rutinní MeSH
• lidé MeSH
• periapikální periodontitida * diagnostické zobrazování   patologie   MeSH
• počítačová tomografie s kuželovým svazkem MeSH
• retrospektivní studie MeSH
• umělá inteligence * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

OBJECTIVES: This study sought to define the invasive hemodynamic correlates of peak oxygen consumption (Vo2) in both supine and upright exercise in heart failure with preserved ejection fraction (HFpEF) and evaluate its diagnostic role as a method to discriminate HFpEF from noncardiac etiologies of dyspnea (NCD). BACKGROUND: Peak Vo2 is depressed in patients with HFpEF. The hemodynamic correlates of reduced peak Vo2 and its role in the clinical evaluation of HFpEF are unclear. METHODS: Consecutive patients with dyspnea and normal EF (N = 206) undergoing both noninvasive upright and invasive supine cardiopulmonary exercise testing were examined. Patients with invasively verified HFpEF were compared with those with NCD. RESULTS: Compared with NCD (n = 72), HFpEF patients (n = 134) displayed lower peak Vo2 during upright and supine exercise. Left heart filling pressures during exercise were inversely correlated with peak Vo2 in HFpEF, even after accounting for known determinants of O2 transport according to the Fick principle. Very low upright peak Vo2 (<14 ml/kg/min) discriminated HFpEF from NCD with excellent specificity (91%) but poor sensitivity (50%). Preserved peak Vo2 (>20 ml/kg/min) excluded HFpEF with high sensitivity (90%) but had poor specificity (49%). Intermediate peak Vo2 cutoff points were associated with substantial overlap between cases and NCD. CONCLUSIONS: Elevated cardiac filling pressure during exercise is independently correlated with reduced exercise capacity in HFpEF, irrespective of body position, emphasizing its importance as a novel therapeutic target. Noninvasive cardiopulmonary testing discriminates HFpEF and NCD at high and low values, but additional testing is required for patients with intermediate peak Vo2.

• Klíčová slova
• HFpEF, diagnosis, exercise, heart failure, hemodynamics,
• MeSH
• dospělí MeSH
• dyspnoe etiologie   MeSH
• hemodynamika MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• spotřeba kyslíku * MeSH
• srdeční katetrizace MeSH
• srdeční selhání komplikace   diagnóza   patofyziologie   MeSH
• studie případů a kontrol MeSH
• supinační poloha MeSH
• tepový objem * MeSH
• tlak MeSH
• tolerance zátěže MeSH
• zátěžový test metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Research Support, N.I.H., Extramural MeSH

BACKGROUND: Molecular classification has brought significant changes in the management of endometrial cancer (EC). In this article, we aim to analyze our first experience with an implementation of molecular testing into daily clinical practice. MATERIALS AND METHODS: In all newly diagnosed EC, the status of mismatch repair (MMR) and p53 proteins has been evaluated immunohistochemically as a part of the routine histopathological examination since May 2021. In tumors that do not meet clinical criteria for a low risk and those with MMR deficiency or p53 mutation, the molecular genetic testing of the POLE gene is performed as well. Recommendations for adjuvant treatment or follow-up are subsequently made based on the risk of recurrence. Genetic counselling is proposed to all patients with MMR-deficient tumors or family history of cancer. RESULTS: A total of 85 patients with newly diagnosed EC between May 2021 and May 2022 were enrolled in the analysis. The median age was 66 years. The results of molecular testing were as follows: 22 (26%) MMR-deficient, 8 (9%) p53-mutated and none POLE-ultramutated of those 40 tumors with performed POLE sequencing. A total of 46 (51%) patient had a low risk, 2 (2%) intermediate, 14 (16%) high-intermediate and 20 (24%) patients had a high risk of recurrence. Advanced or metastatic diseases were diagnosed in 6 (7%) patients. The median time between surgery and multidisciplinary tumor board decision was 21 days (8-36). A total of 76 (90%) patients underwent the whole treatment plan according to the recurrence risk. At the time of analysis, the results of genetic testing were available in 18 patients and revealed 4 (22%) carriers of a pathogenic variant in any of the genes associated with Lynch syndrome. CONCLUSION: Molecular testing combining immunohistochemical analyses of MMR and p53 proteins in all newly diagnosed EC patients with sequencing analysis of POLE in those with non-low-risk disease is feasible and does not prolong the time needed for treatment decision.

• Klíčová slova
• POLE, endometrial cancer, mismatch-repair system, molecular testing, p53,
• MeSH
• diagnostické techniky molekulární MeSH
• genetické testování MeSH
• lidé MeSH
• mutace MeSH
• nádorový supresorový protein p53 * metabolismus   MeSH
• nádory endometria * genetika   terapie   MeSH
• oprava chybného párování bází DNA genetika   MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorový supresorový protein p53 * MeSH

Background: Due to the ongoing COVID-19 pandemic, demand for diagnostic testing has increased drastically, resulting in shortages of necessary materials to conduct the tests and overwhelming the capacity of testing laboratories. The supply scarcity and capacity limits affect test administration: priority must be given to hospitalized patients and symptomatic individuals, which can prevent the identification of asymptomatic and presymptomatic individuals and hence effective tracking and tracing policies. We describe optimized group testing strategies applicable to SARS-CoV-2 tests in scenarios tailored to the current COVID-19 pandemic and assess significant gains compared to individual testing. Methods: We account for biochemically realistic scenarios in the context of dilution effects on SARS-CoV-2 samples and consider evidence on specificity and sensitivity of PCR-based tests for the novel coronavirus. Because of the current uncertainty and the temporal and spatial changes in the prevalence regime, we provide analysis for several realistic scenarios and propose fast and reliable strategies for massive testing procedures. Key Findings: We find significant efficiency gaps between different group testing strategies in realistic scenarios for SARS-CoV-2 testing, highlighting the need for an informed decision of the pooling protocol depending on estimated prevalence, target specificity, and high- vs. low-risk population. For example, using one of the presented methods, all 1.47 million inhabitants of Munich, Germany, could be tested using only around 141 thousand tests if the infection rate is below 0.4% is assumed. Using 1 million tests, the 6.69 million inhabitants from the city of Rio de Janeiro, Brazil, could be tested as long as the infection rate does not exceed 1%. Moreover, we provide an interactive web application, available at www.grouptexting.com, for visualizing the different strategies and designing pooling schemes according to specific prevalence scenarios and test configurations. Interpretation: Altogether, this work may help provide a basis for an efficient upscaling of current testing procedures, which takes the population heterogeneity into account and is fine-grained towards the desired study populations, e.g., mild/asymptomatic individuals vs. symptomatic ones but also mixtures thereof. Funding: German Science Foundation (DFG), German Federal Ministry of Education and Research (BMBF), Chan Zuckerberg Initiative DAF, and Austrian Science Fund (FWF).

• Klíčová slova
• COVID-19, RT-PCR, SARS-CoV-2, group testing, informative testing, pooling,
• MeSH
• COVID-19 * MeSH
• lidé MeSH
• pandemie MeSH
• SARS-CoV-2 * MeSH
• testování na COVID-19 MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Brazílie MeSH

Systematic reviews are carried out to provide an answer to a clinical question based on all available evidence (published and unpublished), to critically appraise the quality of studies, and account for and explain variations between the results of studies. The Joanna Briggs Institute specializes in providing methodological guidance for the conduct of systematic reviews and has developed methods and guidance for reviewers conducting systematic reviews of studies of diagnostic test accuracy. Diagnostic tests are used to identify the presence or absence of a condition for the purpose of developing an appropriate treatment plan. Owing to demands for improvements in speed, cost, ease of performance, patient safety, and accuracy, new diagnostic tests are continuously developed, and there are often several tests available for the diagnosis of a particular condition. In order to provide the evidence necessary for clinicians and other healthcare professionals to make informed decisions regarding the optimum test to use, primary studies need to be carried out on the accuracy of diagnostic tests and the results of these studies synthesized through systematic review. The Joanna Briggs Institute and its international collaboration have updated, revised, and developed new guidance for systematic reviews, including systematic reviews of diagnostic test accuracy. This methodological article summarizes that guidance and provides detailed advice on the effective conduct of systematic reviews of diagnostic test accuracy.

• MeSH
• diagnostické techniky a postupy * normy   MeSH
• empirický výzkum MeSH
• falešně negativní reakce MeSH
• falešně pozitivní reakce MeSH
• hodnocení biomedicínských technologií MeSH
• lidé MeSH
• medicína založená na důkazech * organizace a řízení   normy   MeSH
• metaanalýza jako téma * MeSH
• ROC křivka MeSH
• senzitivita a specificita MeSH
• systematický přehled jako téma * MeSH
• výzkumný projekt * normy   MeSH
• zkreslení výsledků (epidemiologie) MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH