Browsing Bergen Open Research Archive by Author "Aarsand, Aasne Karine"
Now showing items 1-15 of 15
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Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
Bustad, Helene J.; Kallio, Juha Pekka; Vorland, Marta; Fiorentino, Valeria; Sandberg, Sverre; Schmitt, Caroline; Aarsand, Aasne Karine; Martinez, Aurora (Journal article; Peer reviewed, 2021)Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem ... -
Biological variation estimates of Alzheimer's disease plasma biomarkers in healthy individuals
Brum, Wagner S.; Ashton, Nicholas J.; Simrén, Joel; di Molfetta, Guiglielmo; Karikari, Thomas K.; Benedet, Andrea L.; Zimmer, Eduardo R.; Lantero-Rodriguez, Juan; Montoliu-Gaya, Laia; Jeromin, Andreas; Aarsand, Aasne Karine; Bartlett, William A.; Calle, Pilar Fernández; Coşkun, Abdurrahman; Díaz–Garzón, Jorge; Jonker, Niels; Zetterberg, Henrik; Sandberg, Sverre; Carobene, Anna; Blennow, Kaj (Journal article; Peer reviewed, 2024)INTRODUCTION Blood biomarkers have proven useful in Alzheimer's disease (AD) research. However, little is known about their biological variation (BV), which improves the interpretation of individual-level data. METHODS We ... -
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function
Christie, Marthe S.; Laitaoja, Mikko; Aarsand, Aasne Karine; Kallio, Juha Pekka; Bustad, Helene J. (Journal article; Peer reviewed, 2022)Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1-hydroxymethylbilane (HMB). In this process, HMBS binds four consecutive substrate ... -
Critical appraisal and meta-analysis of biological variation estimates for kidney related analytes
Jonker, Niels; Aslan, Berna; Boned, Beatriz; Marqués-García, Fernando; Ricos, Carmen; Alvarez, Virtudes; Bartlett, William A.; Braga, Federica; Carobene, Anna; Coşkun, Abdurrahman; Díaz-Garzón, Jorge; Fernandez-Calle, Pilar; Gonzalez-Lao, Elisabet; Minchinela, Joana; Perich, Carmen; Simón, Margarita; Sandberg, Sverre; Aarsand, Aasne Karine (Journal article; Peer reviewed, 2020)Objective: Kidney markers are some of the most frequently used laboratory tests in patient care, and correct clinical decision making depends upon knowledge and correct application of biological variation (BV) data. The ... -
The European Biological Variation Study (EuBIVAS): A summary report
Carobene, Anna; Aarsand, Aasne Karine; Bartlett, William A.; Coşkun, Abdurrahman; Díaz-Garzón, Jorge; Fernandez-Calle, Pilar; Guerra, Elena; Jonker, Niels; Locatelli, Massimo; Plebani, Mario; Sandberg, Sverre; Ceriotti, Ferruccio (Journal article; Peer reviewed, 2022)Biological variation (BV) data have many important applications in laboratory medicine. Concerns about quality of published BV data led the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) 1st ... -
The European Biological Variation Study (EuBIVAS): weekly biological variation of cardiac troponin I estimated by the use of two different high-sensitivity cardiac troponin I assays
Ceriotti, Ferruccio; Marco, Jorge Diaz-Garzon; Fernandez-Calle, Pilar; Maregnani, Alessio; Aarsand, Aasne Karine; Coşkun, Abdurrahman; Jonker, Niels; Sandberg, Sverre; Carobene, Anna (Journal article; Peer reviewed, 2020)Background Cardiac troponins (cTn) are specific markers for cardiac damage and acute coronary syndromes. The availability of new high-sensitivity assays allows cTn detection in healthy people, thus permitting the estimation ... -
European Biological Variation Study (EuBIVAS): Within- and between-subject biological variation estimates for serum thyroid biomarkers based on weekly samplings from 91 healthy participants
Bottani, Michela; Aarsand, Aasne Karine; Banfi, Giuseppe; Locatelli, Massimo; Coşkun, Abdurrahman; Díaz-Garzón, Jorge; Fernandez-Calle, Pilar; Sandberg, Sverre; Ceriotti, Ferruccio; Carobene, Anna (Journal article; Peer reviewed, 2022)Objectives: Thyroid biomarkers are fundamental for the diagnosis of thyroid disorders and for the monitoring and treatment of patients with these diseases. The knowledge of biological variation (BV) is important to define ... -
One ring closer to a closure: the crystal structure of the ES<inf>3</inf> hydroxymethylbilane synthase intermediate
Bustad, Helene J.; Sæter, Marthe Christie; Laitaoja, Mikko; Aarsand, Aasne Karine; Martinez, Aurora; Jänis, Janne; Kallio, Juha Pekka (Journal article; Peer reviewed, 2023)Hydroxymethylbilane synthase (HMBS), involved in haem biosynthesis, catalyses the head-to-tail coupling of four porphobilinogens (PBGs) via a dipyrromethane (DPM) cofactor. DPM is composed of two PBGs, and a hexapyrrole ... -
Personalized reference intervals - Statistical approaches and considerations
Coskun, Abdurrahman; Sandberg, Sverre; Unsal, Ibrahim; Yavuz, Fulya G.; Cavusoglu, Coskun; Serteser, Mustafa; Kilercik, Meltem; Aarsand, Aasne Karine (Journal article; Peer reviewed, 2022)For many measurands, physicians depend on population-based reference intervals (popRI), when assessing laboratory test results. The availability of personalized reference intervals (prRI) may provide a means to improve the ... -
Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study
Baravelli, Carl Michael; Aarsand, Aasne Karine; Sandberg, Sverre; Tollånes, Mette Christophersen (Journal article; Peer reviewed, 2022)Background Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ... -
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: A nationwide cohort study
Baravelli, Carl Michael; Sandberg, Sverre; Aarsand, Aasne Karine; Tollånes, Mette Christophersen (Peer reviewed; Journal article, 2019-04-03)Background Porphyria cutanea tarda (PCT) is a skin disorder originating from a deficit of the liver enzyme uroporphyrinogen decarboxylase. PCT may be a risk factor for hepatocellular carcinoma (HCC) and other cancers, but ... -
Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study
Baravelli, Carl Michael; Aarsand, Aasne Karine; Sandberg, Sverre; Tollånes, Mette Christophersen (Journal article; Peer reviewed, 2020)Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general ... -
A survey of total IgE reference intervals reported by Scandinavian and British medical laboratories – a need for harmonisation
Vinnes, Erik Wilhelm; Sletten, Ida Sofie Karlsen; Alnæs, Marie Bjørbak; Storaas, Torgeir; Aarsand, Aasne Karine (Journal article; Peer reviewed, 2023)Objectives There appears to be marked discrepancies between total IgE reference intervals (RIs) in use by many laboratories and those recommended by published studies. The aim of this study was therefore to review total ... -
Systematic review and meta-analysis of within-subject and between-subject biological variation estimates of 20 haematological parameters
Coskun, Abdurrahman; Braga, Federica; Carobene, Anna; Tejedor Ganduxe, Xavier; Aarsand, Aasne Karine; Fernández-Calle, Pilar; Díaz-Garzón Marco, Jorge; Bartlett, William; Jonker, Niels; Aslan, Berna; Minchinela, Joana; Boned, Beatriz; González-Lao, Elisabet; Marqués-García, Fernándo; Perich, Carmen; Ricós, Carmen; Simón, Margarita; Sandberg, Sverre (Peer reviewed; Journal article, 2020)Background: Interpretation of the complete blood count (CBC) parameters requires reliable biological variation (BV) data. The aims of this study were to appraise the quality of publications reporting BV data for CBC ... -
Within- and between-subject biological variation data for tumor markers based on the European Biological Variation Study
Coşkun, Abdurrahman; Aarsand, Aasne Karine; Sandberg, Sverre; Guerra, Elena; Locatelli, Massimo; Díaz-Garzón, Jorge; Fernandez-Calle, Pilar; Ceriotti, Ferruccio; Jonker, Niels; Bartlett, William A.; Carobene, Anna (Journal article; Peer reviewed, 2022)Objectives: Reliable biological variation (BV) data are required for the clinical use of tumor markers in the diagnosis and monitoring of treatment effects in cancer. The European Biological Variation Study (EuBIVAS) was ...