Tone Kristin Bergersen

• Brandtzæg, Karianne Haga; Lippe, Charlotte von der; Vestengen, Ingvild Kibsgaard; Holtan, Josephine Prener; Winge, Mona Irene & Rustad, Cecilie F. [Vis alle 11 forfattere av denne artikkelen] (2025). Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome. British Journal of Dermatology. ISSN 0007-0963. doi: 10.1093/bjd/ljaf413. Fulltekst i vitenarkiv Vis sammendrag

  Background Basal cell naevus syndrome (BCNS) is a rare autosomal dominant condition characterized by early onset and multiple basal cell carcinomas (BCCs), skeletal and ocular abnormalities, and extracutaneous tumours and cysts. In most cases, BCNS is caused by a pathogenic variant in the tumour suppressor gene PTCH1. Pathogenic variants in SUFU account for a minority of cases. No clear genotype–phenotype associations between different PTCH1 variants have been established. Objectives To identify all individuals with BCNS in Norway, characterize their clinical and genetic profiles, and investigate possible genotype–phenotype associations. Methods In this cross-sectional study, we approached all individuals with BCNS registered at the Department of Dermatology at Oslo University Hospital and two national resource centres for rare medical conditions. Dermatologists, dentists and geneticists across Norway were contacted in order to identify additional individuals with BCNS. Data were collected from structured interviews, whole-body physical examinations, electronic medical records, radiographic imaging and molecular genetic analyses. Results We identified 109 individuals with BCNS, indicating a national prevalence of BCNS of at least 1.9 per 100 000, of whom 103 agreed to be included. Clinical findings confirmed the considerable phenotypic variation in BCNS, including BCC in 61 individuals (median number of BCCs 48, range 1–1025), odontogenic keratocysts in 72 (median number of odontogenic keratocysts 5, range 1–30) and a wide spectrum of ocular and skeletal abnormalities in 43 and 98 individuals, respectively. This study is the first to report the prevalence estimates of autism (4%) and epilepsy (7%), as well as intracranial lesions associated with epilepsy, in BCNS. Genetic analyses identified a pathogenic or probable pathogenic PTCH1 variant in 93 individuals, while 5 individuals had variants of uncertain clinical significance. Twenty-one of the pathogenic PTCH1 variants were novel. None of the individuals with PTCH1 variants in exon 1, all belonging to the same family, exhibited BCCs, odontogenic keratocysts or palmoplantar pitting. Conclusions This study expands the number of pathogenic PTCH1 variants, elucidates important clinical aspects in BCNS and reveals novel insight to genotype–phenotype associations, providing new implications for management and follow-up.

• Lin, Aihua; Kousis, Ilias; Ugland, Nora; Andersen, Marian Berge; Bergersen, Tone Kristin & Stankovski, Tomislav [Vis alle 8 forfattere av denne artikkelen] (2020). Cardiorespiratory interactions during three different temperatures - a case report. 2020 11th Conference of the European Study Group on Cardiovascular Oscillations (ESGCO). doi: 10.1109/ESGCO49734.2020.9158146. Fulltekst i vitenarkiv
• Lossius, Astrid Haaskjold; Lorentzen, Merete; Austad, Joar & Bergersen, Tone Kristin (2020). Contact allergy in patients with chronic venous leg ulcers. Contact Dermatitis. ISSN 0105-1873. doi: 10.1111/cod.13770. Fulltekst i vitenarkiv Vis sammendrag

  Contact allergy (CA) is prevalent in patients with chronic leg ulcers (CLUs) due to venous stasis1 and may delay wound healing. Exposure to different ointments and wound dressings over time, combined with occlusive bandaging, may predispose to contact sensitization.2 The spectrum of allergens depends on wound care practices.3, 4 Studies on CA in patients with CLUs from Norway are lacking. To determine the occurrence of CA in patients with CLUs, patch testing was performed with the Leg Ulcer Series (LUS) containing 27 chemicals and five additional substances relevant to wound treatment: Caine mix III and V, hydrocortisone, IntraSite gel (propylene glycol 20%, Smith & Nephew), and Brulidine (dibrompropamidine 0.15%, Sanofi‐Aventis) (Table S1). Fifty‐two of the 97 patients were also tested with the European Baseline Series (EBS) (Table S2).

• Blom, Kjersti Benedicte; Bergo, Kaja Knudsen; Espe, Emil Knut Stenersen; Rosseland, Vigdis; Grøtta, Ole Jørgen & Mjøen, Geir [Vis alle 17 forfattere av denne artikkelen] (2019). Cardiovascular rEmodelling in living kidNey donorS with reduced glomerular filtration rate: rationale and design of the CENS study. Blood Pressure. ISSN 0803-7051. 29(2), s. 1–13. doi: 10.1080/08037051.2019.1684817. Fulltekst i vitenarkiv Vis sammendrag

  Purpose: Until recently, it has been believed that donating a kidney not represents any risk for development of cardiovascular disease. However, a recent Norwegian epidemiological study suggests that kidney donors have an increased long-term risk of cardiovascular mortality. The pathophysiological mechanisms linking reduced kidney function to cardiovascular disease are not known. Living kidney donors are screened for cardiovascular morbidity before unilateral nephrectomy, and are left with mildly reduced glomerular filtration rate (GFR) after donation. Therefore, they represent an unique model for investigating the pathogenesis linking reduced GFR to cardiovascular disease and cardiovascular remodelling. We present the study design of Cardiovascular rEmodelling in living kidNey donorS with reduced glomerular filtration rate (CENS), which is an investigator-initiated prospective observational study on living kidney donors. The hypothesis is that living kidney donors develop cardiovascular remodelling due to a reduction of GFR. Materials and methods: 60 living kidney donors and 60 age and sex matched healthy controls will be recruited. The controls will be evaluated to fulfil the Norwegian transplantation protocol for living kidney donors. Investigations will be performed at baseline and after 1, 3, 6 and 10 years in both groups. The investigations include cardiac magnetic resonance imaging, echocardiography, bone density scan, flow mediated dilatation, laser Doppler flowmetry, nailfold capillaroscopy, office blood pressure, 24-h ambulatory blood pressure, heart rate variability and investigation of microbiota and biomarkers for inflammation, cardiovascular risk and the calcium-phosphate metabolism. Conclusions: The present study seeks to provide new insight in the pathophysiological mechanisms linking reduced kidney function to cardiovascular disease. In addition, we aim to enlighten predictors of adverse cardiovascular outcome in living kidney donors.

• Bergersen, Tone Kristin & Walløe, Lars (2018). Acral coldness - severly reduced blood flow to fingers and toes. Handbook of Clinical Neurology. ISSN 0072-9752. 157, s. 677–685. doi: 10.1016/b978-0-444-64074-1.00040-9. Fulltekst i vitenarkiv
• Bergersen, Tone Kristin; Skytioti, Maria & Elstad, Maja (2017). Cold-induced sympathetic tone modifies the impact of endothelium-dependent vasodilation in the finger pulp. Autonomic Neuroscience: Basic & Clinical. ISSN 1566-0702. 203, s. 97–102. doi: 10.1016/j.autneu.2016.11.004. Fulltekst i vitenarkiv

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• Bergersen, Tone Kristin (2019). Eldreboken/Hud og aldring. Fagbokforlaget. ISBN 9788245021783. 454 s. Fulltekst i vitenarkiv

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• Sidhu, Amanpreet; Holm, Jan Øyvind; Bergersen, Tone Kristin & Alfonso, Jose Hernan (2023). Prevalence and clinical outcome of contact allergy to methylisothiazolinone/methylchloroisothiazolinone in Southern-East Norway. A retrospective case-study. Contact Dermatitis. ISSN 0105-1873. doi: 10.1111/cod.14308. Fulltekst i vitenarkiv Vis sammendrag

  The use of preservatives as methylisothiazolinone (MI)/methylchloroisothiazolinone (MCl) in cosmetic and industrial products has led to an epidemic of contact allergy to MI worldwide.1-4 However, to our knowledge, current data from Norway is missing. Hence, the latest available data from 2006 to 2008, reports a nationwide prevalence of MI/MCI contact allergy of 2%,5 in line with other European countries before 2010.6, 7

• Ugland, Nora; Lin, Aihua; Bergersen, Tone Kristin; Andersen, Marian Berge; Holme, Nathalie Linn Anikken & Zilakos, Ilias [Vis alle 7 forfattere av denne artikkelen] (2019). The hemodynamic effects of skin blood flow in human thermoneutral zone. Fulltekst i vitenarkiv
• Bergersen, Tone Kristin (2019). Hud og aldring. I Husebø, Bettina & Flo, Elisabeth (Red.), Eldreboken: Diagnoser og behandling. Fagbokforlaget. ISSN 9788245021783. s. 212–220. Fulltekst i vitenarkiv

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