Landspítali University Hospital Research Archive
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A polygenic resilience score moderates the genetic risk for schizophrenia.
Get PDFTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBased on the discovery by the Resilience Project (Chen R. et al. Nat Biotechnol 34:531-538, 2016) of rare variants that confer resistance to Mendelian disease, and protective alleles for some complex diseases, we posited the existence of genetic variants that promote resilience to highly heritable polygenic disorders1,0 such as schizophrenia. Resilience has been traditionally viewed as a psychological construct, although our use of the term resilience refers to a different construct that directly relates to the Resilience Project, namely: heritable variation that promotes resistance to disease by reducing the penetrance of risk loci, wherein resilience and risk loci operate orthogonal to one another. In this study, we established a procedure to identify unaffected individuals with relatively high polygenic risk for schizophrenia, and contrasted them with risk-matched schizophrenia cases to generate the first known "polygenic resilience score" that represents the additive contributions to SZ resistance by variants that are distinct from risk loci. The resilience score was derived from data compiled by the Psychiatric Genomics Consortium, and replicated in three independent samples. This work establishes a generalizable framework for finding resilience variants for any complex, heritable disorder.UK Research & Innovation (UKRI)
Medical Research Council UK (MRC)
European Commission
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute on Alcohol Abuse & Alcoholism (NIAAA)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute on Aging (NIA)
United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute of Mental Health (NIMH)
Wellcome Trust
European Commissio
Vesicourethral Anastomotic Stenosis After Open or Robot-assisted Laparoscopic Retropubic Prostatectomy-Results from the Laparoscopic Prostatectomy Robot Open Trial.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: Vesicourethral anastomotic stenosis is a well-known late complication after open radical retropubic prostatectomy (RRP) with previously reported incidences of 2.7-15%. There are few reports of the incidence after robot-assisted laparoscopic radical prostatectomy (RALP) compared with RRP.
Objective: The aim was to compare the risk of developing symptomatic stenosis after RRP and RALP, and to explore potential risk factors and the influence of stenosis on the risk of urinary incontinence.
Design, setting, and participants: Between 2008 and 2011, 4003 men were included in a prospective trial comparing RRP and RALP at 14 Swedish centres. Clinical data and patient questionnaires were collected before, during, and after surgery.
Outcome measurements and statistical analysis: Stenosis was identified by either patients' reports in questionnaires or case report forms. The primary endpoint is reported as unadjusted as well as adjusted relative risks (RRs), calculated with log-binomial regression models. Data on incontinence were analysed by means of a log-binomial regression model, with stenosis as an independent and incontinence as a dependent variable.
Results and limitations: Symptomatic stenosis developed in 1.9% of 3706 evaluable men within 24 mo. The risk was 2.2 times higher after RRP than after RALP (RR 2.21, 95% confidence interval [CI] 1.38-3.53). Overall, urinary incontinence was twice as common in patients who had stenosis (RR 2.01, 95% CI 1.43-2.64).
Conclusions: This large prospective study found an overall low rate of vesicourethral anastomotic stenosis after radical prostatectomy, but the rate was significantly lower after robot-assisted prostatectomy. The risk of stenosis seems to be associated with the number of sutures/takes in the anastomosis, but this was statistically significant only in the RALP group.
Patient summary: We investigated the risk of developing vesicourethral anastomotic stenosis after open and robot-assisted radical prostatectomy. We found that the risk was generally lower than previously reported and lower after robot-assisted radical prostatectomy than after radical retropubic prostatectomy. Urinary incontinence was twice as common in patients with stenosis.
Keywords: Anastomotic stenosis; Prostate cancer; Robotic surgery.Swedish governmen
Exploratory assessment of pineal gland volume, composition, and urinary 6-sulfatoxymelatonin levels on prostate cancer risk.
No full textTo access publisher's full text version of this article click on the hyperlink belowIntroduction: Melatonin levels are partially driven by the parenchyma volume of the pineal gland. Low urinary levels of 6-sulfatoxymelatonin have been associated with increased risk of advanced prostate cancer, but the relationship between pineal gland volume and composition and prostate cancer risk has not been examined.
Materials and methods: We utilized data from 864 men from the AGES-Reykjavik Study with complete pineal gland volumes and urinary 6-sulfatoxymelatonin measurements. Pineal parenchyma, calcification, and cyst volumes were calculated from brain magnetic resonance imaging. Levels of 6-sulfatoxymelatonin were assayed from prediagnostic urine samples. We calculated Pearson correlation coefficients between parenchyma volume and urinary 6-sulfatoxymelatonin levels. We used Cox proportional hazards regression to calculate multivariable hazard ratios (HRs) and 95% confidence intervals (95% CIs) comparing prostate cancer risk across parenchyma volume tertiles and across categories factoring in parenchyma volume, gland composition, and urinary 6-sulfatoxymelatonin level.
Results: Parenchyma volume was moderately correlated with urinary 6-sulfatoxymelatonin level (r = .24; p < .01). There was no statistically significant association between parenchyma volume tertile and prostate cancer risk. Men with high parenchyma volume, pineal cysts and calcifications, and low urinary 6-sulfatoxymelatonin levels had almost twice the risk of total prostate cancer as men with low parenchyma volume, no pineal calcifications or cysts, and low urinary 6-sulfatoxymelatonin levels (HR: 1.98; 95% CI: 1.02, 3.84; p: .04).
Conclusions: Although parenchyma volume is not associated with prostate cancer risk, pineal gland composition and other circadian dynamics may influence risk for prostate cancer. Additional studies are needed to examine the interplay of pineal gland volume, composition, and melatonin levels on prostate cancer risk.
Keywords: circadian rhythm; melatonin; pineal gland; prostate cancer.United States Department of Health & Human Services
National Institutes of Health (NIH) - US
Volcanic eruptions and toxic gases
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„IT WAS FOR MY HEART AND SOUL, WHERE I FELT SAFE“ ICELANDIC PARENTS‘ EXPERIENCE OF GROUP ANTENATAL CARE
Get PDFTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBakgrunnur: Vísbendingar eru um að bæta megi fræðslu í meðgönguvernd. Hópmeðgönguvernd hefur verið innleidd um heim allan til að
koma til móts við fræðsluþarfir verðandi foreldra og stuðla að virkni
þeirra í meðgönguverndinni. Veturinn 2017-2018 var boðið upp á
hópmeðgönguvernd fyrir barnshafandi konur og maka þeirra á þremur
heilsugæslustöðvum á höfuðborgarsvæðinu.
Aðferð: Rannsóknin er eigindleg viðtalsrannsókn þar sem hálfstöðluð
viðtöl voru tekin við 18 þátttakendur í sex rýnihópum. Allir þátttakendur
höfðu eignast sitt fyrsta barn og tóku þátt í hópmeðgönguvernd. Notuð
var innihaldsgreining við úrvinnslu og viðtölin þemagreind.
Niðurstöður: Reynsla þátttakenda af því að taka þátt í hópmeðgönguvernd var mjög jákvæð. Þrjú meginþemu voru greind: 1) saman í
þessu, 2) tilfinning um öryggi og 3) jákvæð breyting – gott jafnvægi.
Þátttakendum þótti mikilvægt að tilheyra hópnum og sameiginleg
upplifun veitti þeim hughreystingu og stuðning. Þátttakendur upplifðu
einnig að umræða og fræðsla í hópmeðgönguvernd væri með áherslu
á hið eðlilega barneignarferli og hefði það veitt þeim tilfinningu um
öryggi. Þriðja þemað varpar ljósi á þá sameiginlegu reynslu þeirra að
hópmeðgönguverndin kom þeim skemmtilega á óvart, hefði gagnast þeim
vel og jafnvægi hefði verið gott milli hefðbundinnar meðgönguverndar
og hópmeðgönguverndar.
Ályktun: Þátttakendur voru ánægðir með upplifun sína af hópmeðgönguvernd og virtist fyrirkomulagið uppfylla vel þarfir þeirra hvað varðar fræðslu
og samtal um meðgöngu, fæðingu og foreldrahlutverkið. Hópmeðgönguvernd gæti verið ákjósanlegur valkostur í meðgönguvernd hér á landi.
Lykilhugtök: Meðgönguvernd, hópmeðgönguvernd, foreldrahópar,
eðlilegt barneignarferli, stuðningur.Background: Studies suggest that education within antenatal care
could be improved. Group antenatal care has been implemented
around the world to address the educational needs of expecting parents
and promote active participation within antenatal care. In 2017-2018,
a model of group antenatal care was designed and implemented at
three healthcare clinics in the Reykjavik capital area.
Method: The study is a qualitative study using six focus group
interviews with 18 participants. All participants had recently had
their first baby and had participated in group antenatal care. Content
analysis was used to analyse the data and detect themes.
Results: Participants’ experience of group antenatal care was
positive overall. Three main themes were identified: 1) Doing this
together, 2) a sense of safety, 3) a positive change - good balance.
Participants thought it was important to belong to the group and the
common experience provided reassurance and support. Participants
furthermore experienced that disucssion and education with an
emphasis on normal birth had provided them with a sense of safety.
The third theme highlights their experience of being pleasantly
surprised by group antenatal care, finding the model useful, and a that
there was a good balance between one-on-one and group antenatal
care visits.
Conclusion: The study suggests that this model of group antenatal
care was well received by expecting parents and beneficial in terms of
providing education and support. The model may be a suitable option
for antenatal care in Iceland.
Keywords: Antenatal care, group antenatal care, normal birth,
support
ÓVISSAN VEGNA COVID-19 – áhrif á barneignarferlið
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Nordic Specialist Course in Palliative Medicine: Evaluation and Impact on the Development of Palliative Medicine in the Nordic Countries: A Survey among Participants from Seven Courses 2003-2017.
Get PDFTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBackground: The five Nordic Associations for palliative medicine (PM) have since 2003 organized a common specialist course for six weeks in two years. Aim: To describe the course: participants, evaluations, impact on participants' careers, and on the development of PM in the Nordic countries. Methods: Information on participants taken from the course archive and national registries. A web survey sent to graduates from the courses 2003-2013 (n = 150) and 2013-2017 (n = 72). Results: Mean age at course start was 46.9 years; 66% were women. Mean overall evaluation score 5.7 (range 5.4-6.0, max 7.0). Survey response rate 84% (n = 186); 80% of respondents were working in PM, the majority as leaders, >90% engaged in teaching PM. About 40% were active in PM associations, lobbying, and guideline development. Conclusion: The Nordic Specialist Course in PM has had a profound impact on the participants' postcourse careers, influencing the development of PM in the Nordic countries
Enhanced Antenatal Care: Combining one-to-one and group Antenatal Care models to increase childbirth education and address childbirth fear.
No full textTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBackground: We designed and implemented a new model of care, Enhanced Antenatal Care (EAC), which offers a combined approach to midwifery-led care with six one-to-one visits and four group sessions.
Aim: To assess EAC in terms of women's satisfaction with care, autonomy in decision-making, and its effectiveness in lowering childbirth fear.
Methods: This was a quasi-experimental controlled trial comparing 32 nulliparous women who received EAC (n=32) and usual antenatal care (n=60). We compared women's satisfaction with care and autonomy in decision-making post-intervention using chi-square test. We administered a Fear of Birth Scale pre- and post-intervention and assessed change in fear of birth in each group using the Cohen's d for effect size. To isolate the effect of EAC, we then restricted this analysis to women who did not attend classes alongside maternal care (n=13 in EAC and n=13 in usual care).
Findings: Women's satisfaction with care in terms of monitoring their and their baby's health was similar in both groups. Women receiving EAC were more likely than those in usual care to report having received enough information about the postpartum period (75% vs 30%) and parenting (91% vs 55%). Overall, EAC was more effective than usual care in reducing fear of birth (Cohen's d=-0.21), especially among women not attending classes alongside antenatal care (Cohen's d=-0.83).
Conclusion: This study is the first to report findings on EAC and suggests that this novel model may be beneficial in terms of providing education and support, as well as lowering childbirth fear.
Keywords: Education; Enhanced Antenatal Care; Fear of birth; Group antenatal care; Pregnancy.University of Iceland Research Fund (Rannsoknarsjoour Haskola islands
Distinction between the effects of parental and fetal genomes on fetal growth.
No full textTo access publisher's full text version of this article click on the hyperlink belowBirth weight is a common measure of fetal growth that is associated with a range of health outcomes. It is directly affected by the fetal genome and indirectly by the maternal genome. We performed genome-wide association studies on birth weight in the genomes of the child and parents and further analyzed birth length and ponderal index, yielding a total of 243 fetal growth variants. We clustered those variants based on the effects of transmitted and nontransmitted alleles on birth weight. Out of 141 clustered variants, 22 were consistent with parent-of-origin-specific effects. We further used haplotype-specific polygenic risk scores to directly test the relationship between adult traits and birth weight. Our results indicate that the maternal genome contributes to increased birth weight through blood-glucose-raising alleles while blood-pressure-raising alleles reduce birth weight largely through the fetal genome
COVID 19 – first impression in Iceland
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