Publications by authors named "Magnussen K"

Article Synopsis
  • * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
  • * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
View Article and Find Full Text PDF

Reindeer (Rangifer tarandus) pastoralism utilizes vast boreo-arctic taiga and tundra as grazing land. Highly fluctuating population sizes pose major challenges to the economy and livelihood of indigenous herder communities. In this study we investigated the effect of population fluctuations on core provisioning and regulating ecosystem services in two Sámi reindeer herding districts with contrasting fluctuation trends.

View Article and Find Full Text PDF

Background: The demand for plasma products is growing, necessitating an increase in plasma collection by plasmapheresis. While the 20th edition of the European Guidelines permits plasma donors in Europe to donate with 96-h donation intervals, the potential short- and long-term consequences of high-frequency plasma donations on donor health remain unknown. This study aims to measure the effect of plasma donation frequency on plasma protein composition, including total serum protein (TSP) and immunoglobulin G (IgG), in Norwegian male blood donors.

View Article and Find Full Text PDF

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1 mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals).

View Article and Find Full Text PDF

Background: At the start of the pandemic, the Norwegian Directorate of Health and Norwegian blood banks initiated the production of COVID-19 convalescent plasma within the framework of clinical studies. In this article we describe the blood donors who participated.

Material And Method: Blood donors who had recovered from COVID-19 were recruited to donate single donor plasma for the purpose of patient treatment.

View Article and Find Full Text PDF

At the symposium organized by the International Plasma and Fractionation Association and European Blood Alliance, experts presented their views and experiences showing that the public sector and its blood establishments may strengthen the collection and increase the supply of plasma using the right strategies in plasma donor recruitment, retention and protection, scaling-up collection by increasing the number of donors within improved/new infrastructure, supportive funding, policies and legislation as well as harmonization of clinical guidelines and the collaboration of all stakeholders. Such approaches should contribute to increased plasma collection in Europe to meet patients' needs for plasma-derived medicinal products, notably immunoglobulins and avoid shortages. Overall, presentations and discussions confirmed that European non-profit transfusion institutions are committed to increasing the collection of plasma for fractionation from unpaid donors through dedicated programmes as well as novel strategies and research.

View Article and Find Full Text PDF
Article Synopsis
  • The text refers to a correction made to the article with DOI 10.14740/gr1206.
  • This correction likely addresses errors or inaccuracies in the original publication.
  • Details about the specific adjustments or clarifications are not provided in the text.
View Article and Find Full Text PDF

Purpose: In Norway, blood donors using antihypertensive medication were deferred until 2015. Following revision of the national directive, these donors could be allowed, providing stable dose for at least 3 months, adequate blood pressure control and no adverse effects caused by the therapy. The new practice was evaluated by a quality study where the major aim was to establish whether donations from blood donors on antihypertensive medication pose a risk to the donor.

View Article and Find Full Text PDF

Background: The bioactive peptide hormone hepcidin-25 regulates iron levels by inhibiting iron transport to plasma via ferroportin. Hepcidin-25 is synthesized in the liver where the 84 amino acids pro-hepcidin is cleaved into the bioactive hepcidin-25. A patient admitted to the hospital presented with infertility and fatigue.

View Article and Find Full Text PDF

A collective understanding of economic impacts and in particular of monetary costs of biological invasions is lacking for the Nordic region. This paper synthesizes findings from the literature on costs of invasions in the Nordic countries together with expert elicitation. The analysis of cost data has been made possible through the InvaCost database, a globally open repository of monetary costs that allows for the use of temporal, spatial, and taxonomic descriptors facilitating a better understanding of how costs are distributed.

View Article and Find Full Text PDF

Background: Determination of blood donor hemoglobin (Hb) levels is a pre-requisite to ensure donor safety and blood product quality. We aimed to identify Hb measurement practices across blood donation services and to what extent differences associate with low-Hb deferral rates.

Methods: An online survey was performed among Biomedical Excellence for Safer Transfusion (BEST) Collaborative members, extended with published data.

View Article and Find Full Text PDF

This paper outlines the Danish aspects of -hemochromatosis, which is the most frequent genetic predisposition to iron overload in the five million ethnic Danes; more than 20,000 people are homozygous for the C282Y mutation and more than 500,000 people are compound heterozygous or heterozygous for the -mutations. The disorder has a long preclinical stage with gradually increasing body iron overload and eventually 30% of men will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease and diabetes. Subsequently the disease may progress into irreversible arthritis, liver cirrhosis, cardiomyopathy, pancreatic fibrosis and osteoporosis.

View Article and Find Full Text PDF

HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

View Article and Find Full Text PDF

Background: The development of alloantibodies may complicate the management of patients with β-thalassemia. An extended antigenic matching may reduce the risk of alloimmunization. Our previous study showed that the introduction of molecular red blood cell (RBC) typing allows finding suitable blood units for multi-transfused patients.

View Article and Find Full Text PDF

Background And Objectives: Despite the obligate iron loss from blood donation, some donors present with hyperferritinaemia that can result from a wide range of acute and chronic conditions including hereditary haemochromatosis (HH). The objective of our study was to investigate the causes of hyperferritinaemia in the blood donor population and explore the value of extensive HH mutational analyses.

Materials And Methods: Forty-nine consecutive donors (f = 6, m = 43) were included prospectively from the Capital Regional Blood Center.

View Article and Find Full Text PDF

Blood components collected from blood donors are an invaluable part of modern-day medicine. A healthy blood donor population is therefore of paramount importance. The results from the Danish Blood Donor Study (DBDS) indicate that gender, number of previous donations, time since last donation and menopausal status are the strongest predictors of iron deficiency.

View Article and Find Full Text PDF

Background: No former studies have examined how blood donation influences physical performance in women, who due to menstruation may have a slower recovery of performance. Therefore, the aim of this study was to clarify how VO , time trial (TT) performance, and hematologic variables are affected in 18 iron-sufficient (plasma ferritin [P-ferritin] > 30 µg/L) women after a standard 450-mL blood donation.

Study Design And Methods: VO , TT performance, and blood variables were measured at baseline and 3, 7, 14, 21, and 28 days after blood donation in 18 iron-sufficient women.

View Article and Find Full Text PDF

Red cell alloimmunization is a serious problem in chronically transfused patients. A number of high-throughput DNA assays have been developed to extend or replace traditional serologic antigen typing. DNA-based typing methods may be easily automated and multiplexed, and provide reliable information on a patient.

View Article and Find Full Text PDF

Przewalski's horses (PHs, Equus ferus ssp. przewalskii) were discovered in the Asian steppes in the 1870s and represent the last remaining true wild horses. PHs became extinct in the wild in the 1960s but survived in captivity, thanks to major conservation efforts.

View Article and Find Full Text PDF

Background: Iron deficiency and blood donors with low hemoglobin (Hb) concentration are well-known challenges in any blood bank setting. In the Capital Region of Denmark, a new approach was adopted that centralized measurement of Hb, initiated ferritin (F) measurement, and established a center for donor Hb and iron. An algorithm was created based on Hb and F levels, which drove decisions on outreach by the donor Hb and iron resource team to the donor, including whether to provide iron supplementation or, on rare occasions, a referral to the donor's general practitioner.

View Article and Find Full Text PDF