Blar i forfatter "Arntzen, Kjell Arne"

Viser treff 1-13 av 13

    • ABCC9-related intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9 

      Smeland, Marie Falkenberg; McClenaghan, Conor; Roessler, Helen I.; Savelberg, Sanne; Hansen, Geir Åsmund Myge; Hjellnes, Helene; Arntzen, Kjell Arne; Müller, Kai Ivar; Dybesland, Andreas R.; Harter, Theresa; Sala-Rabanal, Monica; Emfinger, Chris H.; Huang, Yan; Singareddy, Soma S.; Gunn, Jamie; Wozniak, David F.; Kovacs, Attila; Massink, Maarten; Tessadori, Federico; Kamel, Sarah M.; Bakkers, Jeroen; Remedi, Maria S.; Van Ghelue, Marijke; Nichols, Colin G.; van Haaften, Gijs (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-10-01)
      Mutations in genes encoding K<sub>ATP</sub> channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are ...

    • Atrial fibrillation is associated with cognitive decline in stroke-free subjects: the Tromsø Study 

      Tiwari, Sweta; Løchen, Maja-Lisa; Jacobsen, Bjarne K.; Hopstock, Laila Arnesdatter; Nyrnes, Audhild; Njølstad, Inger; Mathiesen, Ellisiv B.; Arntzen, Kjell Arne; Ball, Jocasta; Stewart, Simon; Wilsgaard, Tom; Schirmer, Henrik (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-09-28)
      Background and purpose:<br>Previous studies have shown associations between atrial fibrillation (AF) and cognitive decline. We investigated this association in a prospective population study, focusing on whether stroke risk factors modulated this association in stroke-free women and men.<br>Methods:<br>We included 4983 participants (57% women) from the fifth survey of the Tromsø Study (Tromsø 5, ...

    • Carotid atherosclerosis, vascular risk factors and relation to cognitive test results : the Tromsø study 1994-2008. 

      Arntzen, Kjell Arne (Doctoral thesis; Doktorgradsavhandling, 2012-06-19)
      The prevalence of dementia and cognitive impairment is rising worldwide as the number of elderly people increases in most countries. Vascular risk factors and carotid artery atherosclerosis have in some epidemiological studies been associated with increased risk of cognitive decline. The carotid artery is essential for blood supply to the brain, but is also vulnerable to atherosclerosis. The ...

    • Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Müller, Kai Ivar; Mellgren, Svein Ivar; Bindoff, Laurence Albert; Rasmussen, Magnhild; Ørstavik, Kristin; Jonsrud, Christoffer; Tveten, Kristian; Nilssen, Øivind; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-11-25)
      We aimed to investigate the epidemiology and natural history of FKRP-related limb-girdle muscular dystrophy R9 (LGMDR9) in Norway. We identified 153 genetically confirmed subjects making the overall prevalence 2.84/100,000, the highest reported figure worldwide. Of the 153 subjects, 134 (88 %) were homozygous for FKRP c.826C>A giving a carrier frequency for this variant of 1/101 in Norway. Clinical ...

    • Estimated and Measured GFR Associate Differently with Retinal Vasculopathy in the General Population 

      Eriksen, Bjørn Odvar; Løchen, Maja-Lisa; Arntzen, Kjell Arne; Bertelsen, Geir; Eilertsen, Britt-Ann; Hanno, Therese von; Herder, Marit; Jenssen, Trond Geir; Mathisen, Ulla Dorte; Melsom, Toralf; Njølstad, Inger; Solbu, Marit Dahl; Mathiesen, Ellisiv B. (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-11)
      Background/Aims: Estimated GFR (eGFR) is used extensively in epidemiological research. Validations of eGFR have demonstrated acceptable performance, but the dependence of creatinine and cystatin C on non-GFR factors could confound associations with disease. Few studies have investigated this issue in direct comparison with measured GFR (mGFR). We compared the associations between eGFR and mGFR ...

    • Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020) 

      Jensen, Synnøve; Abeler, Karin Louise; Friborg, Oddgeir; Rösner, Assami; Olsborg, Caroline; Mellgren, Svein Ivar; Müller, Kai Ivar; Rosenberger, Andreas Dybesland; Vold, Monica Linea; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-09-11)
      Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts on health, functioning, and well-being. LGMDR9 may potentially afect sleep by physical or emotional symptoms, myalgia, or sleep-disordered breathing (SDB) through cardiorespiratory involvement. The objective was to investigate the occurrence of ...

    • Joint Effect of Carotid Plaque and C-Reactive Protein on First-Ever Ischemic Stroke and Myocardial Infarction? 

      Eltoft, Agnethe; Arntzen, Kjell Arne; Wilsgaard, Tom; Hansen, John-Bjarne; Mathiesen, Ellisiv B.; Johnsen, Stein Harald (Journal article; Tidsskriftartikkel; Peer reviewed, 2018-05-17)
      Background: <br>The joint effect of atherosclerosis and CRP (C-reactive protein) on risk of ischemic stroke (IS) and myocardial infarction (MI) has been sparsely studied. The aim of this study was to explore whether CRP mediates the risk of events in subjects with prevalent carotid plaque, examine synergism, and test whether CRP and carotid plaque add to risk prediction beyond traditional risk ...

    • Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene 

      Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)
      We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ...

    • Long-Term Use of Lipid-Lowering Drugs Slows Progression of Carotid Atherosclerosis The Tromso Study 1994 to 2008 

      Herder, Marit; Arntzen, Kjell Arne; Johnsen, Stein Harald; Eggen, Anne Elise; Mathiesen, Ellisiv B. (Journal article; Tidsskriftartikkel; Peer reviewed, 2013)
      Data on the effect of lipid-lowering drugs (LLD) on carotid atherosclerosis outside clinical trials are limited. The aim of this study was to determine the effect of LLD on change in carotid intima media thickness and total plaque area in a general population. Subjects were 1532 women and 1442 men who participated in a longitudinal population-based study with ultrasound examination of intima media ...

    • The metabolic syndrome and progression of carotid atherosclerosis over 13 years. The Tromsø study. 

      Herder, Marit; Arntzen, Kjell Arne; Johnsen, Stein Harald; Mathiesen, Ellisiv B. (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      The metabolic syndrome (MetS) is associated with increased risk of cardiovascular disease. In this study, we examine if metabolic syndrome predicts progression of atherosclerosis over 13 years. Participants were 1442 men and 1532 women in the population-based Tromsø Study who underwent carotid ultrasound examinations at baseline in the 4th (1994–5) and at follow-up in the 6th survey (2007–8). Of ...

    • Population distribution of traditional and the emerging cardiovascular risk factors carotid plaque and IMT: The REFINE-Reykjavik study with comparison with the Tromsø study 

      Thorsson, Bolli; Eiríksdóttir, Gudny; Sigurdsson, Sigurdur; Gudmundsson, Elias Freyr; Bots, Michiel L.; Aspelund, Thor; Arntzen, Kjell Arne; Mathiesen, Ellisiv B.; Gudnason, Vilmundur (Journal article; Tidsskriftartikkel; Peer reviewed, 2018-05-31)
      <p><i>Objectives</i>: Population statistics for carotid plaque and cardiovascular risk factors reported in scientific journals are usually presented as averages for the population or age and sex adjusted, rather than sex and age groups. Important population differences about atherosclerosis and cardiovascular risk factors may thus be missed. We compare the distribution of cardiovascular risk factors, ...

    • The prevalence of hereditary neuromuscular disorders in Northern Norway 

      Müller, Kai Ivar; Van Ghelue, Marijke; Lund, Irene; Jonsrud, Christoffer; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2020-11-13)
      <i>Aim</i> - To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway.<p> <p><i>Methods</i> - From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary neuromuscular disorders.<p> <p><i>Results</i> - We identified 542 patients with a hereditary neuromuscular disorder ...

    • Risk Factors for Progression of Carotid Intima-Media Thickness and Total Plaque Area A 13-Year Follow-Up Study: The Tromsø Study 

      Herder, Marit; Johnsen, Stein Harald; Arntzen, Kjell Arne; Mathiesen, Ellisiv B. (Journal article; Tidsskriftartikkel; Peer reviewed, 2012)
      Data on risk factors for progression of intima-media thickness (IMT) and plaque are scarce. The objective was to determine long-term risk factors for total plaque area (TPA) and IMT as well as risk factors for progression (ΔTPA and ΔIMT). Subjects were 1307 men and 1436 women who participated in a longitudinal population-based study with ultrasound examination of the right carotid artery at baseline ...