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- 2019
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Journal article (peer-reviewed)
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| 2. |
- Maas, R. R., et al.
(author)
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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
- 2017
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In: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 82:6, s. 1004-1015
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Journal article (peer-reviewed)abstract
- Objective: 3-Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. Interpretation: MEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015. © 2017 American Neurological Association
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| 3. |
- Menkveld, Albert J., et al.
(author)
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Nonstandard Errors
- 2024
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In: JOURNAL OF FINANCE. - : Wiley-Blackwell. - 0022-1082 .- 1540-6261. ; 79:3, s. 2339-2390
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Journal article (peer-reviewed)abstract
- In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty-nonstandard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for more reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants.
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| 4. |
- Horn, M. A., et al.
(author)
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Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease
- 2013
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In: Clinical Endocrinology. - : Wiley. - 0300-0664. ; 79:3, s. 316-320
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Journal article (peer-reviewed)abstract
- ObjectivesX-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. Study designAmong 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men. ResultsEighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 15% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. ConclusionsWe found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids.
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| 5. |
- Manzano-Nunez, Ramiro, et al.
(author)
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Outcomes and management approaches of resuscitative endovascular balloon occlusion of the aorta based on the income of countries
- 2020
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In: World Journal of Emergency Surgery. - : Springer Science and Business Media LLC. - 1749-7922. ; 15:57
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Journal article (peer-reviewed)abstract
- © 2020 The Author(s). Background: Resuscitative endovascular balloon occlusion of the aorta (REBOA) could provide a survival benefit to severely injured patients as it may improve their initial ability to survive the hemorrhagic shock. Although the evidence supporting the use of REBOA is not conclusive, its use has expanded worldwide. We aim to compare the management approaches and clinical outcomes of trauma patients treated with REBOA according to the countries' income based on the World Bank Country and Lending Groups. Methods: We used data from the AORTA (USA) and the ABOTrauma (multinational) registries. Patients were stratified into two groups: (1) high-income countries (HICs) and (2) low-to-middle income countries (LMICs). Propensity score matching extracted 1:1 matched pairs of subjects who were from an LMIC or a HIC based on age, gender, the presence of pupillary response on admission, impeding hypotension (SBP ≤ 80), trauma mechanism, ISS, the necessity of CPR on arrival, the location of REBOA insertion (emergency room or operating room) and the amount of PRBCs transfused in the first 24 h. Logistic regression (LR) was used to examine the association of LMICs and mortality. Results: A total of 817 trauma patients from 14 countries were included. Blind percutaneous approach and surgical cutdown were the preferred means of femoral cannulation in HICs and LIMCs, respectively. Patients from LMICs had a significantly higher occurrence of MODS and respiratory failure. LR showed no differences in mortality for LMICs when compared to HICs; neither in the non-matched cohort (OR = 0.63; 95% CI: 0.36-1.09; p = 0.1) nor in the matched cohort (OR = 1.45; 95% CI: 0.63-3,33; p = 0.3). Conclusion: There is considerable variation in the management practices of REBOA and the outcomes associated with this intervention between HICs and LMICs. Although we found significant differences in multiorgan and respiratory failure rates, there were no differences in the risk-adjusted odds of mortality between the groups analyzed. Trauma surgeons practicing REBOA around the world should joint efforts to standardize the practice of this endovascular technology worldwide.
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| 6. |
- Kwon, J. Y., et al.
(author)
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Seeing the person before the numbers: Personas for understanding patients? life stories when using patient-reported outcome measures in practice settings
- 2023
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In: International Journal of Medical Informatics. - : Elsevier BV. - 1386-5056. ; 172
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Journal article (peer-reviewed)abstract
- Aims: While patient-reported outcome measures (PROMs) are increasingly being integrated into health infor-mation technologies, one challenge has been to assist clinicians in understanding how the responses to PROMs relate to patient stories for identifying and addressing the care needs of individual patients. Personas, hypo-thetical representations of patients, can be used as an innovative strategy to support clinicians' use of PROMs in their practice. These personas embody patients' life stories, making them a valuable tool for understanding the person when using PROMs. The aim of this project focused on cancer-related experiences to develop personas as a knowledge translation strategy to support clinicians' use of PROMs for person-centred cancer care. Methods: Eight older adults participated in online workshops (n = 2-3 participants/workshop; 1.5-hour sessions) to co-develop personas that reflected their collective experiences at a particular stage of their cancer journeys. Participants were asked to identify themes that focused on what the personas were thinking and feeling, what influenced how the personas acted, and the personas' overall goals. Participants subsequently completed an emotional well-being PROM from the perspective of the persona. Personas were further refined based on key themes identified during the workshop discussions. Results: Four personas representing the cumulative experiences of the workshop participants were developed to help clinicians link PROM responses to patient stories. These personas became the basis of four practice sce-narios, which were examples of interactions between a clinician and each persona, to demonstrate the use of PROMs in practice. Conclusion: Personas can be used to illustrate patients' life stories and contextualize PROMs data. As a knowledge translation strategy, personas can foster clinician awareness of how responses to PROMs can be used to initiate conversations to better understand patients' unique life situations.
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| 7. |
- White, M., et al.
(author)
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Cold-water coral ecosystem (Tisler Reef, Norwegian Shelf) may be a hotspot for carbon cycling
- 2012
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In: Marine Ecology-Progress Series. - : Inter-Research Science Center. - 0171-8630 .- 1616-1599. ; 465, s. 11-23
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Journal article (peer-reviewed)abstract
- Cold-water coral (CWC) reefs are recognised as an important marine benthic eco system at continental margins. Where abundant, they most likely play a role both in the maintenance of biodiversity and in the provision of ecosystem services provided by shelf seas. Here, we directly measure the community respiration of a CWC reef on the Norwegian shelf and show that rates of oxygen uptake are high in summer (25-88 mmol O-2 m(-2) d(-1)), with lower spring values (7.5-9 mmol O-2 m(-2) d(-1)). Spring uptake rates are comparable to values at shelf sediments at similar water depths, while summer values are much higher. We calculate that with such high respiration rates, CWC reef ecosystems potentially turnover a significant proportion (similar to 25%) of the annual shelf carbon export in the Norwegian Sea, where CWC reefs are abundant. The loss of CWCs through physical destruction or ocean acidification may have a significant impact on local carbon cycling in the mid-to high-latitude North Atlantic Ocean.
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| 8. |
- Aliko, A., et al.
(author)
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World Workshop on Oral Medicine VI: clinical implications of medication-induced salivary gland dysfunction
- 2015
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In: Oral Surgery Oral Medicine Oral Pathology Oral Radiology. - : Elsevier BV. - 2212-4403. ; 120:2, s. 185-206
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Journal article (peer-reviewed)abstract
- Objective. This study aimed to systematically review the available literature on the clinical implications of medication-induced salivary gland dysfunction (MISGD). Study Design. The systematic review was performed using PubMed, Embase, and Web of Science (through June 2013). Studies were assessed for degree of relevance and strength of evidence, based on whether clinical implications of MISGD were the primary study outcomes, as well as on the appropriateness of study design and sample size. Results. For most purported xerogenic medications, xerostomia was the most frequent adverse effect. In the majority of the 129 reviewed papers, it was not documented whether xerostomia was accompanied by decreased salivary flow. Incidence and prevalence of medication-induced xerostomia varied widely and was often associated with number and dose of medications. Xerostomia was most frequently reported to be mild-to-moderate in severity. Its onset occurred usually in the first weeks of treatment. There was selected evidence that medication-induced xerostomia occurs more frequently in women and older adults and that MISGD may be associated with other clinical implications, such as caries or oral mucosal alterations. Conclusions. The systematic review showed that MISGD constitutes a significant burden in many patients and may be associated with important negative implications for oral health.
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| 9. |
- Aus, Gunnar, 1958, et al.
(author)
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EAU Guidelines on Prostate Cancer.
- 2005
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In: Eur Urol. - : Elsevier BV. ; 48:4, s. 546-551
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Journal article (peer-reviewed)abstract
- Objectives: The first summary of the European Association of Urology (EAU) guidelines on prostate cancer was published in 2001. These guidelines have been continuously updated since many important changes affecting the clinical management of patients with prostate cancer have occurred over the past years. The aim of this paper is to present a summary of the 2005 update of the EAU guidelines on prostate cancer. Methods: A literature review of the new data has been performed by the working panel. The guidelines have been updated and level of evidence/grade of recommendation added to the text. This enables readers to better understand the quality of the data forming the basis of the recommendations. Results: A full version is available at the EAU Office or at www.uroweb.org. Systemic prostate biopsies under ultrasound guidance is the preferred diagnostic method and the use of periprostatic injection of a local anaesthetic can significantly reduce pain/discomfort associated with the procedure. Active treatment (surgery or radiation) is mostly recommended for patients with localized disease and a long life expectancy with radical prostatectomy being the only treatment evaluated in a randomized controlled trial. Follow-up is at large based on prostate specific antigen (PSA) and a disease-specific history with imaging only indicated when symptoms occur. Cytotoxic therapy has become an option for selected patients with hormone refractory prostate cancer. Conclusion: The knowledge in the field of prostate cancer is rapidly changing. These EAU guidelines on prostate cancer summarize the most recent findings and put them into clinical practice.
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| 10. |
- Bischof, P, et al.
(author)
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Implantation of the human embryo: research lines and models. From the implantation research network 'Fruitful'.
- 2006
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In: Gynecologic and obstetric investigation. - : S. Karger AG. - 0378-7346 .- 1423-002X. ; 62:4, s. 206-16
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Journal article (peer-reviewed)abstract
- Infertility is an increasing problem all over the world, and it has been estimated that 10-15% of couples in fertile age have fertility problems. Likewise induced unsafe abortion is a serious threat to women's health. Despite advances made in assisted reproduction techniques, little progress has been made in increasing the success rate during fertility treatment. This document describes a wide range of projects carried out to increase the understanding in the field of embryo implantation research. The 'Fruitful' research network was created to encourage collaborations within the consortium and to describe our different research potentials to granting agencies or private sponsors.
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