European harmonization
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The 2024 Kidney Disease: Improving Global Outcomes (KDIGO) guidelines for chronic kidney disease (CKD) evaluation and management bring important updates, particularly for European laboratories. These guidelines emphasize the need for harmonization in CKD testing, promoting the use of regional equations. In Europe, the European Kidney Function Consortium (EKFC) equation is particularly suited for European populations, particularly compared to the CKD-EPI 2021 race-free equation. A significant focus is placed on the combined use of creatinine and cystatin C to estimate glomerular filtration rate (eGFRcr-cys), improving diagnostic accuracy. In situations where eGFR may be inaccurate or clinically insufficient, the guidelines encourage the use of measured GFR (mGFR) through exogenous markers like iohexol. These guidelines emphasize the need to standardize creatinine and cystatin C measurements, ensure traceability to international reference materials, and adopt harmonized reporting practices. The recommendations also highlight the importance of incorporating risk prediction models, such as the Kidney Failure Risk Equation (KFRE), into routine clinical practice to better tailor patient care. This article provides a European perspective on how these KDIGO updates should be implemented in clinical laboratories to enhance CKD diagnosis and management, ensuring consistency across the continent.
- MeSH
- chronická renální insuficience * diagnóza terapie MeSH
- cystatin C krev MeSH
- hodnoty glomerulární filtrace * MeSH
- klinické laboratoře MeSH
- kreatinin krev MeSH
- lidé MeSH
- směrnice pro lékařskou praxi jako téma * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Geografické názvy
- Evropa MeSH
Initiation of newborn screening (NBS) programs in Europe dates back to the 1960s. One of the most recent expansions of NBS programs was the addition of severe combined immunodeficiency (SCID) based on detection of T-cell receptor excision circles (TRECs). In this review, we present an overview of the current situation in Europe. To avoid a biased overview based on only published results, a 37-item survey on TREC-based NBS was sent to representatives of 46 European countries. With a response rate of 83%, we collected data of 38 countries. Seventeen of the 38 European countries that have completed the survey have nationally or regionally implemented TREC-based NBS. The survey results emphasize similarities and differences as well as common practices and challenges in TREC-based NBS. Because TRECs are a general surrogate marker for severe T lymphocytopenia, conditions other than SCID are also identified. Therefore, the initial definition of the target disease as "SCID" might need to be reconsidered and extended to "SCID and severe T lymphocytopenia." Even though complete harmonization of TREC-based NBS programs across Europe will remain challenging, collaboration and close partnerships will help in the move toward universal TREC-based screening for all newborns, resulting in more infants with SCID and severe T lymphocytopenia being detected each year.
- MeSH
- lidé MeSH
- lymfopenie * imunologie diagnóza MeSH
- novorozenec MeSH
- novorozenecký screening * MeSH
- receptory antigenů T-buněk * genetika imunologie MeSH
- těžká kombinovaná imunodeficience * diagnóza epidemiologie imunologie MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Geografické názvy
- Evropa MeSH
INTRODUCTION: Despite national guidelines and use of intrapartum antibiotic prophylaxis (IAP), Streptococcus agalactiae (group B streptococci (GBS)) is still a leading cause of morbidity and mortality in newborns in Europe and the United States. The European DEVANI (Design of a Vaccine Against Neonatal Infections) program assessed the neonatal GBS infection burden in Europe, the clinical characteristics of colonized women and microbiological data of GBS strains in colonized women and their infants with early-onset disease (EOD). METHODS: Overall, 1083 pregnant women with a GBS-positive culture result from eight European countries were included in the study. Clinical obstetrical information was collected by a standardized questionnaire. GBS strains were characterized by serological and molecular methods. RESULTS: Among GBS carriers included in this study after testing positive for GBS by vaginal or recto-vaginal sampling, 13.4% had at least one additional obstetrical risk factor for EOD. The five most common capsular types (i.e., Ia, Ib, II, III and V) comprised ~ 93% of GBS carried. Of the colonized women, 77.8% received any IAP, and in 49.5% the IAP was considered appropriate. In our cohort, nine neonates presented with GBS early-onset disease (EOD) with significant regional heterogeneity. CONCLUSIONS: Screening methods and IAP rates need to be harmonized across Europe in order to reduce the rates of EOD. The epidemiological data from eight different European countries provides important information for the development of a successful GBS vaccine.
- MeSH
- antibiotická profylaxe MeSH
- dospělí MeSH
- infekční komplikace v těhotenství * epidemiologie mikrobiologie MeSH
- lidé MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- přenašečství epidemiologie mikrobiologie MeSH
- Streptococcus agalactiae * izolace a purifikace klasifikace MeSH
- streptokokové infekce * epidemiologie mikrobiologie prevence a kontrola MeSH
- těhotenství MeSH
- vagina mikrobiologie MeSH
- vertikální přenos infekce statistika a číselné údaje prevence a kontrola MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- Geografické názvy
- Evropa MeSH
Cílem sdílení genomických dat je umožnit bezpečný přístup k těmto údajům především za účelem výzkumu, personalizované zdravotní péče a tvorby zdravotních politik. Sdílení dat má potenciál urychlit výzkum a přinést významný pokrok v chápání zdraví a nemocí, avšak naráží na právní a etické problémy spojené s ochranou soukromí a důvěrnosti informací. Kromě mnohdy neintuitivní evropské legislativy vedoucí k různým právním interpretacím, existují v jednotlivých zemích Evropské unie další národní pravidla, která mohou nakládání s genomickými daty dále specifikovat. Tato různorodost komplikuje mezinárodní spolupráci a sdílení dat, a to nejenom v genetice, ale i v jiných oblastech biomedicínského výzkumu. Tato práce analyzuje základní právní rámec a jeho aplikaci umožňující sdílení genomických dat a objasňuje pojmy dalšího zpracování, sekundárního využití a účelu zpracování dat. Dále zdůrazňuje význam souhlasu subjektů údajů a specifických výjimek z obecného zákazu zpracování citlivých dat. Pro efektivní sdílení genomických dat je nezbytné dodržovat evropské a národní právní předpisy, včetně jasného stanovení účelu a právního základu zpracování. Mezinárodní spolupráce vyžaduje harmonizaci právních předpisů a důkladnou správu dat. Tento článek analyzuje základní dynamiku a zákonnost sdílení dat v oblasti genomického výzkumu.
The aim of genomic data sharing is to enable secure access to this data, primarily for research, personalized healthcare and health policy-making. Data sharing has the potential to accelerate research and bring about significant advances in the understanding of health and disease, but it faces legal and ethical issues related to the protection of privacy and confidentiality of information. In addition to the often counterintuitive European legislation leading to different legal interpretations, there are other national rules in individual European Union countries that can further specify the handling of genomic data. This diversity complicates international cooperation and data sharing, not only in genetics but also in other areas of biomedical research. This thesis analyzes the basic legal framework and its application enabling the sharing of genomic data and clarifies the concepts of further processing, secondary use and purpose of data processing. Furthermore, it stresses the importance of data subjects' consent and specific exceptions to the general ban on processing sensitive data. For effective sharing of genomic data, it is essential to comply with European and national legislation, including a clear definition of the purpose and legal basis of processing. International cooperation requires regulatory harmonization and robust data management. This paper analyzes the fundamental dynamics and legality of data sharing in the field of genomic research.
BACKGROUND: Enterovirus D68 (EV-D68) causes respiratory disease ranging from mild to severe and in rare cases a paralytic syndrome, called acute flaccid myelitis (AFM). Since the global EV-D68 outbreak in 2014, the virus has mainly circulated in biennial epidemic cycles with peaks detected during even years. However, following the COVID-19 pandemic, the seasonal pattern of EV-D68 has been characterized by large yearly upsurges. Here, we describe the circulation of EV-D68 in Europe in 2023 and track its genetic evolution. STUDY DESIGN: Data was compiled from members of the European Non-Polio Network (ENPEN). This included monthly data on the total number of EV samples tested, EV positive samples, EV-D68 positive samples and cases, and other EV positive samples detected in 2023. Information on sample types and surveillance system was recorded. Sequence data from the VP1 gene was used for phylogenetic and amino acid sequence analysis. RESULTS: EV was detected in 13,585 out of 203,622 diagnostic samples tested (6.7 %), of which 402 (3.0 %) were determined as EV-D68, representing 386 cases. EV-D68 infections peaked in October 2023 (136/386; 35.2 %). 267/386 (69.2 %) of EV-D68 cases were captured through clinical EV surveillance, almost all of which (202/204 of positive samples with sample type information) were detected in respiratory specimens. Phylogenetic analysis performed on 99 VP1 sequences revealed a distinct B3-derived lineage with a previously undescribed residue change, D554E, in Europe. CONCLUSIONS: The study documents sustained circulation of EV-D68 in Europe in 2023, the evolution of B3-derived lineages, and appearance of previously undescribed amino acid substitutions in Europe. This stresses the need for continuous EV-D68 surveillance and harmonization of EV-D68 detection practices towards better data comparability across countries.
- MeSH
- COVID-19 epidemiologie MeSH
- enterovirové infekce * epidemiologie virologie MeSH
- fylogeneze MeSH
- lidé MeSH
- lidský enterovirus D * genetika klasifikace izolace a purifikace MeSH
- molekulární evoluce MeSH
- substituce aminokyselin MeSH
- virové plášťové proteiny * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
PURPOSE: The International Osteoporosis Foundation (IOF) and the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) have proposed procollagen type I N propeptide (PINP) and β isomerized C-terminal telopeptide of type I collagen (β-CTX-I) as reference bone turnover markers (BTMs) for osteoporosis. This report examines the published literature since the 2011 IOF-IFCC position paper in order to determine the clinical potential of the reference BTMs and newer markers for the prediction of fracture risk and monitoring the treatment of osteoporosis. METHODS: Evidence for the relationship between BTMs and subsequent fractures was gathered from prospective studies through literature review of the Medline database from years 2011 to May 2024. The impact of treatment on BTMs was also studied by examining publications in that period. Studies of the accuracy of BTMs in the assessment of bone turnover in the setting of advanced chronic kidney disease were also examined. RESULTS: Increased BTM concentrations are associated with higher fracture risk in postmenopausal women. PINP and β-CTX-I measured in blood are associated with fracture risk but their interaction with other risk factors has not been sufficiently studied limiting their incorporation into fracture risk algorithms. Treatment-induced changes in PINP and β-CTX-I account for a substantial proportion of fracture risk reduction and are useful for improving adherence; they are recommended for inclusion in studies to examine adherence in individual patients. However, total PINP (tPINP) and β-CTX-I may be elevated in CKD due to renal retention. Bone alkaline phosphatase (BALP), intact PINP (iPINP), and tartrate resistant acid phosphatase 5b (TRACP5b) show the most promise in discriminating high and low turnover bone diseases in patients with advanced CKD and for predicting fracture risk, monitoring treatment response, and assessing the risk of treatment-related complications. CONCLUSION: We re-affirm the use of serum/plasma tPINP and plasma β-CTX-I as reference BTMs with appropriate patient preparation and sample handling and measurement by standardized/harmonized assays in clinical studies to accumulate further data, and for monitoring treatment of osteoporosis in the setting of normal renal function in clinical practice. BALP and TRACP5b, measured by standardized assays, are recommended as reference BTMs for CKD-associated osteoporosis and should be included in observational and intervention studies to ascertain their utility for risk-evaluation, treatment initiation, and assessment of treatment response in CKD-associated osteoporosis.
- MeSH
- biologické markery krev MeSH
- hodnocení rizik metody MeSH
- inhibitory kostní resorpce terapeutické užití MeSH
- kolagen typu I krev MeSH
- konsensus MeSH
- lidé MeSH
- osteoporotické fraktury prevence a kontrola etiologie MeSH
- osteoporóza * diagnóza patofyziologie farmakoterapie krev terapie MeSH
- peptidové fragmenty krev MeSH
- peptidy krev MeSH
- prokolagen krev MeSH
- remodelace kosti * fyziologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- konsensus - konference MeSH
- přehledy MeSH
BACKGROUND: Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe. This highlights the need for high-quality data collection by stakeholders to establish MG registries. A European MG registry could help bridge the treatment access gap across different countries, offering critical data to support regulatory decisions, foster international collaborations, and enhance clinical and epidemiological research. Several national MG registries already exist or are in development. To avoid duplication and ensure harmonization in data collection, a modified Delphi procedure was implemented to identify essential data elements for inclusion in national registries. RESULTS: Following a literature review, consultations with patient associations and pharmaceutical companies, and input from multiple European MG experts, 100 data elements were identified. Of these, 62 reached consensus for inclusion and classification, while only 1 item was agreed for exclusion. 30 items failed to reach the ≥ 80% agreement threshold and were excluded. Among the 62 accepted items, 21 were classified as mandatory data elements, 32 optional, and 9 items pertained to the informed consent form. CONCLUSIONS: Through a modified Delphi procedure, consensus was successfully achieved. This consensus-based approach represents a crucial step toward harmonizing MG registries across Europe. The resulting dataset will facilitate the sharing of knowledge and enhance European collaborations. Furthermore, the harmonized data may assist in regulatory or reimbursement decisions regarding novel therapies, as well as address treatment access disparities between European countries.
- MeSH
- delfská metoda * MeSH
- konsensus MeSH
- lidé MeSH
- myasthenia gravis * terapie diagnóza MeSH
- registrace * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
BACKGROUND AND PURPOSE: CNS embryonal tumor with pleomorphic adenoma gene-like 1 (PLAGL1)/pleomorphic adenoma gene-like 2 (PLAGL2) amplification (ET, PLAGL) is a newly identified, highly malignant pediatric tumor. Systematic MRI descriptions of ET, PLAGL are currently lacking. MATERIALS AND METHODS: MRI data from 19 treatment-naïve patients with confirmed ET, PLAGL were analyzed. Evaluation focused on anatomic involvement, tumor localization, MRI signal characteristics, DWI behavior, and the presence of necrosis and hemorrhage. Descriptive statistics (median, interquartile range, percentage) were assessed. RESULTS: Ten patients had PLAGL1 and nine had PLAGL2 amplifications. The solid components of the tumors were often multinodular with heterogeneous enhancement (mild to intermediate in 47% and intermediate to strong in 47% of cases). Nonsolid components included cysts in 47% and necrosis in 84% of the cases. The tumors showed heterogeneous T2WI hyper- and isointensity (74%), relatively little diffusion restriction (ADC values less than contralateral normal-appearing WM in 36% of cases with available DWI), and tendencies toward hemorrhage/calcification (42%). No reliable distinction was found between PLAGL1- and PLAGL2-amplified tumors or compared with other embryonal CNS tumors. CONCLUSIONS: The study contributes to understanding the imaging characteristics of ET, PLAGL. It underscores the need for collaboration in studying rare pediatric tumors and advocates the use of harmonized imaging protocols for better characterization.
- MeSH
- amplifikace genu MeSH
- dítě MeSH
- DNA vazebné proteiny genetika MeSH
- germinální a embryonální nádory diagnostické zobrazování patologie MeSH
- kojenec MeSH
- lidé MeSH
- magnetická rezonanční tomografie * metody MeSH
- mladiství MeSH
- nádorové supresorové proteiny MeSH
- nádory centrálního nervového systému diagnostické zobrazování patologie MeSH
- nádory mozku diagnostické zobrazování patologie MeSH
- předškolní dítě MeSH
- proteiny buněčného cyklu MeSH
- proteiny vázající RNA MeSH
- transkripční faktory genetika MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
IMPORTANCE: Depressive symptoms are associated with cognitive decline in older individuals. Uncertainty about underlying mechanisms hampers diagnostic and therapeutic efforts. This large-scale study aimed to elucidate the association between depressive symptoms and amyloid pathology. OBJECTIVE: To examine the association between depressive symptoms and amyloid pathology and its dependency on age, sex, education, and APOE genotype in older individuals without dementia. DESIGN, SETTING, AND PARTICIPANTS: Cross-sectional analyses were performed using data from the Amyloid Biomarker Study data pooling initiative. Data from 49 research, population-based, and memory clinic studies were pooled and harmonized. The Amyloid Biomarker Study has been collecting data since 2012 and data collection is ongoing. At the time of analysis, 95 centers were included in the Amyloid Biomarker Study. The study included 9746 individuals with normal cognition (NC) and 3023 participants with mild cognitive impairment (MCI) aged between 34 and 100 years for whom data on amyloid biomarkers, presence of depressive symptoms, and age were available. Data were analyzed from December 2022 to February 2024. MAIN OUTCOMES AND MEASURES: Amyloid-β1-42 levels in cerebrospinal fluid or amyloid positron emission tomography scans were used to determine presence or absence of amyloid pathology. Presence of depressive symptoms was determined on the basis of validated depression rating scale scores, evidence of a current clinical diagnosis of depression, or self-reported depressive symptoms. RESULTS: In individuals with NC (mean [SD] age, 68.6 [8.9] years; 5664 [58.2%] female; 3002 [34.0%] APOE ε4 carriers; 937 [9.6%] had depressive symptoms; 2648 [27.2%] had amyloid pathology), the presence of depressive symptoms was not associated with amyloid pathology (odds ratio [OR], 1.13; 95% CI, 0.90-1.40; P = .29). In individuals with MCI (mean [SD] age, 70.2 [8.7] years; 1481 [49.0%] female; 1046 [44.8%] APOE ε4 carriers; 824 [27.3%] had depressive symptoms; 1668 [55.8%] had amyloid pathology), the presence of depressive symptoms was associated with a lower likelihood of amyloid pathology (OR, 0.73; 95% CI 0.61-0.89; P = .001). When considering subgroup effects, in individuals with NC, the presence of depressive symptoms was associated with a higher frequency of amyloid pathology in APOE ε4 noncarriers (mean difference, 5.0%; 95% CI 1.0-9.0; P = .02) but not in APOE ε4 carriers. This was not the case in individuals with MCI. CONCLUSIONS AND RELEVANCE: Depressive symptoms were not consistently associated with a higher frequency of amyloid pathology in participants with NC and were associated with a lower likelihood of amyloid pathology in participants with MCI. These findings were not influenced by age, sex, or education level. Mechanisms other than amyloid accumulation may commonly underlie depressive symptoms in late life.
- MeSH
- amyloidní beta-protein * mozkomíšní mok metabolismus MeSH
- apolipoprotein E4 genetika MeSH
- biologické markery mozkomíšní mok MeSH
- deprese * MeSH
- dospělí MeSH
- kognitivní dysfunkce * MeSH
- lidé středního věku MeSH
- lidé MeSH
- peptidové fragmenty mozkomíšní mok MeSH
- pozitronová emisní tomografie * MeSH
- průřezové studie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- věkové faktory MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
The ultimate goal of harmonization, crucial to quality in laboratory medicine, is to improve patient outcomes by providing accurate, actionable laboratory information. Patients and healthcare professionals assume that clinical laboratory tests performed by different laboratories at different times on the same type of sample are comparable, and that results can be reliably and consistently interpreted. In this context the reporting units for tests can have a considerable influence on the numeric result. The harmonization of measurement units in laboratory report, leads to the provision of interchangeable and comparable results, thus maximizing the validity of laboratory information, and assuring a more accurate diagnosis and better treatment for the patient. However, although considerable efforts have been made in recent years, the criticisms continue. This opinion paper, prepared jointly by EFLM Committee Harmonization (C-H) and Committee Postanalytical phase (C-POST), describes the "general pragmatic approach" proposed in the drafting of guidelines for the harmonization of measurement units in reporting results, in order to ensure they are used as widely as possible.
- MeSH
- klinické laboratoře * normy MeSH
- klinické laboratorní techniky * normy MeSH
- laboratoře * normy MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
