Publications by authors named "H Okkels"
Background: The prevalence of clinical familial hypercholesterolemia (FH) is very high in the Faroe Islands, but the possible causes are unknown.
Objectives: We aimed to describe potential genetic causes of FH in the Faroe Islands and to investigate whether levels of lipoprotein(a) and measures of dietary habits were associated with clinical FH in the Faroe Islands.
Methods: In this case-control study, we identified potential clinical FH cases aged 18-75 years registered within a nationwide clinical laboratory database in the Faroe Islands and invited them for diagnostic evaluation according to clinical FH scoring systems.
Article Synopsis
- - The study aims to compare colorectal cancer (CRC) incidences between two groups: one group receiving mandatory colonoscopy surveillance (PLSD) and another group with retrospective data (IMRC) that did not have the same follow-up.
- - Results from the PLSD showed higher CRC rates in carriers of MMR gene variants, particularly for path_MLH1 and path_MSH2, compared to the IMRC cohort, challenging previous expectations about cancer rates in these groups.
- - The study concludes that while colonoscopy did reduce CRC incidences in paths_MPS2 carriers prior to age 50, it did not have the same effect for path_MLH1 and path_MSH2, suggesting the need for reevaluation of
MOXIE [Mars Oxygen In Situ Resource Utilization (ISRU) Experiment] is the first demonstration of ISRU on another planet, producing oxygen by solid oxide electrolysis of carbon dioxide in the martian atmosphere. A scaled-up MOXIE would contribute to sustainable human exploration of Mars by producing on-site the tens of tons of oxygen required for a rocket to transport astronauts off the surface of Mars, instead of having to launch hundreds of tons of material from Earth's surface to transport the required oxygen to Mars. MOXIE has produced oxygen seven times between landing in February 2021 and the end of 2021 and will continue to demonstrate oxygen production during night and day throughout all martian seasons.
View Article and Find Full Text PDFGenetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Neuro Oncol
April 2023
Article Synopsis
- * Results revealed that 10% of the children had harmful variants in known cancer genes, and these individuals had a higher likelihood of specific tumor types and multiple CNS tumors.
- * The researchers found that genes linked to childhood cancers are more evolutionarily constrained than those associated with adult cancers, suggesting a significant genetic component in the etiology of pediatric CNS tumors.
Background: Doyne honeycomb retinal dystrophy (DHRD)/malattia leventinese (ML) is an autosomal dominant, progressive retinal disorder characterized by massive central retinal drusen often partly coalescent forming a characteristic honeycomb-like pattern. Debut of vision loss often occurs in early to mid-adulthood, and the degree varies. A single variant in EFEMP1: c.
View Article and Find Full Text PDF