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- Souche, E, et al.
(författare)
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Recommendations for whole genome sequencing in diagnostics for rare diseases
- 2022
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:109, s. 1017-1021
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Tidskriftsartikel (refereegranskat)abstract
- In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.
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- Castagnetti, M, et al.
(författare)
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EBM II: How to perform a literature search
- 2019
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 15:3, s. 268-269
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Tidskriftsartikel (refereegranskat)
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| 7. |
- Fossum, E., et al.
(författare)
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The effect of losartan versus atenolol on cardiovascular morbidity and mortality in patients with hypertension taking aspirin: the Losartan Intervention for Endpoint Reduction in hypertension (LIFE) study
- 2005
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Ingår i: J Am Coll Cardiol. - : Elsevier BV. - 0735-1097. ; 46:5, s. 770-5
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: We conducted a subgroup analysis in the Losartan Intervention For Endpoint reduction in hypertension (LIFE) study to determine whether aspirin interacted with the properties of losartan, an angiotensin-II receptor antagonist. BACKGROUND: Negative interactions between angiotensin-converting enzyme inhibitors and aspirin have been reported. There are no data reported from clinical trials about possible interactions between angiotensin-II receptor antagonists and aspirin. METHODS: The LIFE study assigned 9,193 patients with hypertension and left ventricular hypertrophy (LVH) to losartan- or atenolol-based therapy for a mean of 4.7 years, with 1,970 (21.4%) taking aspirin at baseline. The primary composite end point (CEP) included cardiovascular death, stroke, and myocardial infarction (MI). The present cohort was stratified by aspirin use at baseline. RESULTS: Blood pressures were reduced similarly in the losartan with aspirin (n = 1,004) and atenolol with aspirin (n = 966) groups. The CEP was reduced by 32% (95% confidence interval 0.55 to 0.86, p = 0.001) with losartan with aspirin compared to atenolol with aspirin, adjusted for Framingham risk score and LVH. The test for treatment versus aspirin interaction, excluding other covariates, was significant for the CEP (p = 0.016) and MI (p = 0.037). CONCLUSIONS: There was a statistical interaction between treatment and aspirin in the LIFE study, with significantly greater reductions for the CEP and MI with losartan in patients using aspirin than in patients not using aspirin at baseline. Further studies are needed to clarify whether this represents a pharmacologic interaction or a selection by aspirin use of patients more likely to respond to losartan treatment.
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| 8. |
- Fossum, M, et al.
(författare)
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Evidence-based medicine 1: Background
- 2019
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 15:1, s. 78-79
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Tidskriftsartikel (refereegranskat)
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- Aslam, Tayyba N., et al.
(författare)
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A survey of preferences for respiratory support in the intensive care unit for patients with acute hypoxaemic respiratory failure
- 2023
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Ingår i: Acta Anaesthesiologica Scandinavica. - : WILEY. - 0001-5172 .- 1399-6576. ; 67:10, s. 1383-1394
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundWhen caring for mechanically ventilated adults with acute hypoxaemic respiratory failure (AHRF), clinicians are faced with an uncertain choice between ventilator modes allowing for spontaneous breaths or ventilation fully controlled by the ventilator. The preferences of clinicians managing such patients, and what motivates their choice of ventilator mode, are largely unknown. To better understand how clinicians preferences may impact the choice of ventilatory support for patients with AHRF, we issued a survey to an international network of intensive care unit (ICU) researchers.MethodsWe distributed an online survey with 32 broadly similar and interlinked questions on how clinicians prioritise spontaneous or controlled ventilation in invasively ventilated patients with AHRF of different severity, and which factors determine their choice.ResultsThe survey was distributed to 1337 recipients in 12 countries. Of these, 415 (31%) completed the survey either fully (52%) or partially (48%). Most respondents were identified as medical specialists (87%) or physicians in training (11%). Modes allowing for spontaneous ventilation were considered preferable in mild AHRF, with controlled ventilation considered as progressively more important in moderate and severe AHRF. Among respondents there was strong support (90%) for a randomised clinical trial comparing spontaneous with controlled ventilation in patients with moderate AHRF.ConclusionsThe responses from this international survey suggest that there is clinical equipoise for the preferred ventilator mode in patients with AHRF of moderate severity. We found strong support for a randomised trial comparing modes of ventilation in patients with moderate AHRF.
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| 22. |
- Beckers, GMA, et al.
(författare)
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Construction of a scientific abstract
- 2017
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 13:6, s. 639-640
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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- Castagnetti, M, et al.
(författare)
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Reviewing scientific manuscripts
- 2018
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 14:2, s. 133-134
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Tidskriftsartikel (refereegranskat)
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| 29. |
- Fossum, Caroline, et al.
(författare)
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Expression of tlr4, md2 and cd14 in equine blood leukocytes during endotoxin infusion and in intestinal tissues from healthy horses
- 2012
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Ingår i: Veterinary Immunology and Immunopathology. - : Elsevier BV. - 0165-2427 .- 1873-2534. ; 150:3-4, s. 141-148
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Tidskriftsartikel (refereegranskat)abstract
- The expression of tlr4, md2 and cd14 was studied in equine blood leukocytes and in intestinal samples using real time PCR. The stability of three commonly used reference genes, glyceraldehyde-3P-dehydrogenase (GAPDH), hypoxantine ribosyltransferase (HPRT) and succinate dehydrogenase complex subunit A (SDHA), was evaluated using qbase(PLUS). The equine peripheral blood mononuclear cells (eqPBMC) examined were either stimulated in vitro with Phorbol 12-myristate 13-acetate (PMA) and ionomycin or with the CpG oligodeoxynuclotide 2216 (CpG-ODN 2216) or obtained from horses before, during and after infusion of endotoxin. Intestinal tissue from healthy horses was sampled at ileum, right dorsal colon and rectum. Ranking of the three reference genes used for normalisation identified the combination HPRT/SDHA as most suitable both when determined ex vivo in leukocytes obtained from experimentally induced endotoxaemia and in eqPBMC activated in vitro while HPRT/GAPDH were most appropriate for the intestinal samples. The relative amounts of mRNA for TLR4 and MD-2 increased threefold during in vitro activation of the cells with CpG-ODN 2216 but was decreased in cultures stimulated with PMA/ionomycin. A transient elevation in the transcription of tlr4 and md2 was also evident for equine blood leukocytes following endotoxaemia. The levels of mRNA for CD14 on the other hard remained unaffected both during the induction of endotoxaemia and in the in vitro stimulated PBMCs. A low steady expression of TLR4, MD-2 and CD14 mRNA was demonstrated for the intestinal samples with no variation between the intestinal segments analysed. Thus, the foundation for real time PCR based levels of analysis of mRNA for all three components in the equine LPS receptor complex in different intestinal segments was set, making it possible to carry out future expression studies on clinical material.
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| 35. |
- Harper, L, et al.
(författare)
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COVID-19 and research in pediatric urology
- 2021
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 17:14, s. 569-570
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Tidskriftsartikel (refereegranskat)
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| 36. |
- Harper, L, et al.
(författare)
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The battle between fake news and science
- 2020
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 16:1, s. 114-115
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Tidskriftsartikel (refereegranskat)
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| 37. |
- Harper, L, et al.
(författare)
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The impact of COVID-19 on research
- 2020
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 16:5, s. 715-716
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Tidskriftsartikel (refereegranskat)
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| 38. |
- Heltveit-Olsen, S. R., et al.
(författare)
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Experiences and management strategies of Norwegian GPs during the COVID-19 pandemic: a longitudinal interview study
- 2023
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Ingår i: Scandinavian Journal of Primary Health Care. - : Informa UK Limited. - 0281-3432 .- 1502-7724. ; 41:1, s. 2-12
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Tidskriftsartikel (refereegranskat)abstract
- Objective When the COVID-19 pandemic reached Norway, primary health care had to reorganize to ensure safe patient treatment and maintain infection control. General practitioners (GPs) are key health care providers in the municipalities. Our aim was to explore the experiences and management strategies of Norwegian GPs during the COVID-19 pandemic - over time, and in the context of a sudden organizational change. Design Longitudinal qualitative interview study with two interview rounds. The first round of interviews was conducted from September-December 2020, the second round from January-April 2021. In the first interview round, we performed eight semi-structured interviews with GPs from eight municipalities in Norway. In the second round, five of the GPs were re-interviewed. Consecutive interviews were performed 2-4 months apart. To analyze the data, we used thematic analysis. Results The COVID-19 pandemic required GPs to balance several concerns, such as continuity of care and their own professional efforts. Several GPs experienced challenges in the collaboration with the municipality and in relation to defining their own professional position. Guided by The Norwegian Association of General practitioners, The Norwegian College of General Practice and collegial support, they found viable solutions and ended up with a feeling of having adapted to a new normal. Conclusions Although our study demonstrates that the GPs adapted to the changing conditions, the current municipal health care models are not ideal. There is a need for clarification of responsibilities between GPs and the municipality to facilitate a more coordinated future pandemic response.
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| 40. |
- Hildorf, S, et al.
(författare)
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Parental Acceptance Rate of Testicular Tissue Cryopreservation in Danish Boys with Cryptorchidism
- 2020
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Ingår i: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. - : S. Karger AG. - 1661-5433. ; 13:5-6, s. 246-257
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Tidskriftsartikel (refereegranskat)abstract
- Despite orchidopexy within the first year of life, 20-25% of boys with nonsyndromic cryptorchidism may risk infertility according to histological and hormonal data obtained during surgery. The aim of this study was to evaluate the acceptance rate of testicular tissue cryopreservation among parents of prepubertal boys with cryptorchidism. Fourteen boys with cryptorchidism and high infertility risk were offered cryopreservation as an additional procedure after orchidopexy based on abnormal histopathological findings at primary surgery, whereas 27 boys with bilateral cryptorchidism were offered cryopreservation at the initial orchidopexy. A total of 90% of parents (37/41, 13/14, and 24/27) gave consent to perform cryopreservation, despite being well-informed that the procedural efficacy is largely unproven and may only be needed in about 20% of cases. The number of germ cells per tubule cross-section was 0.03-1.70 (median 0.37) and 22 boys (54%, 22/41) had a value below the lower range. Twelve boys (29%, 12/41) had no type A dark spermatogonia in their biopsy. Cryopreservation of testicular tissue is the first step to introduce spermatogonial stem cell-based therapy into clinical male infertility treatment. At the time of orchidopexy, a testicular biopsy can be collected to ascertain the infertility risk, and it may be an option for boys with bilateral cryptorchidism to have spermatogonial stem cells frozen as a fertility reserve.
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| 44. |
- Juul, N, et al.
(författare)
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How the First Year of COVID-19 Affected Elective Pediatric Urology Patients: A Longitudinal Study Based on Waiting Lists and Surveys From 10 European Centers
- 2022
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Ingår i: Frontiers in public health. - : Frontiers Media SA. - 2296-2565. ; 10, s. 874758-
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Tidskriftsartikel (refereegranskat)abstract
- COVID-19 impacted healthcare systems worldwide, and elective surgical activity was brought to a minimum. Although children were not primarily affected by the disease, pediatric urology was halted by clinical closedown and staff allocation. We aimed to document how these prioritizations affected waiting lists, and to investigate how European centers dealt with the challenge of these logistical and financial prioritizations.Materials and MethodsThis was a 1-year prospective study, starting March 2020. Participants were surveyed at 3-month intervals about waiting lists for several common procedures as well as OR capacity and funding. Further, centers retrospectively reported on surgical and outpatient activity rates during 2019–2021. Waiting list tendencies were evaluated in relation to study baseline.ResultsA marked decrease in surgical and outpatient activity was seen in the spring of 2020. Some included pediatric urology centers were able to increase their budget (15%) and staff working hours (20%) during part of the study period. Still, at the end of the study, the centers had increased the total number of patients on waiting lists with 11%, whereas the average days on waiting lists had accumulated with 73%, yielding a total of 6,102 accumulated waiting days in the study population. Centers with decreased resources had markedly negative effects on waiting lists.ConclusionsCorrelations between COVID-19 derived burdening of healthcare systems and the availability of pediatric urology greatly depends on the prioritizations made at individual centers. Ongoing monitoring of these correlations is warranted to safely avoid unnecessary negative impact on the pediatric population.
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| 45. |
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| 46. |
- Kaefer, M, et al.
(författare)
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How the ESPU grades clinical abstracts
- 2018
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Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 14:5, s. 451-452
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Tidskriftsartikel (refereegranskat)
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| 50. |
- Nordenskjöld, A., et al.
(författare)
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Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
- 2023
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Ingår i: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 191:2, s. 378-390
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Tidskriftsartikel (refereegranskat)abstract
- Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.
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