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- Solé Navais, Pol, et al.
(författare)
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Genetic effects on the timing of parturition and links to fetal birth weight.
- 2023
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Ingår i: Nature genetics. - 1546-1718. ; 55:4, s. 559-567
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Tidskriftsartikel (refereegranskat)abstract
- The timing of parturition is crucial for neonatal survival and infant health. Yet, its genetic basis remains largely unresolved. We present a maternal genome-wide meta-analysis of gestational duration (n=195,555), identifying 22 associated loci (24 independent variants) and an enrichment in genes differentially expressed during labor. A meta-analysis of preterm delivery (18,797 cases, 260,246 controls) revealed six associated loci and large genetic similarities with gestational duration. Analysis of the parental transmitted and nontransmitted alleles (n=136,833) shows that 15 of the gestational duration genetic variants act through the maternal genome, whereas 7 act both through the maternal and fetal genomes and 2 act only via the fetal genome. Finally, the maternal effects on gestational duration show signs of antagonistic pleiotropy with the fetal effects on birth weight: maternal alleles that increase gestational duration have negative fetal effects on birth weight. The present study provides insights into the genetic effects on the timing of parturition and the complex maternal-fetal relationship between gestational duration and birth weight.
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- Haraldsdottir, A, et al.
(författare)
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Early Life Residence, Fish Consumption, and Risk of Breast Cancer
- 2017
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Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1538-7755. ; 26:3, s. 346-354
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Tidskriftsartikel (refereegranskat)
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- Oddsson, Asmundur, et al.
(författare)
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Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- 2023
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Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
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- Piltonen, Terhi T., et al.
(författare)
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Awareness of polycystic ovary syndrome among obstetrician-gynecologists and endocrinologists in Northern Europe
- 2019
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Ingår i: PLOS ONE. - : PUBLIC LIBRARY SCIENCE. - 1932-6203. ; 14:12
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To date, little is known about differences in the knowledge, diagnosis making and treatment strategies of health care providers regarding polycystic ovary syndrome (PCOS) across different disciplines in countries with similar health care systems. To inform guideline translation, we aimed to study physician reported awareness, diagnosis and management of PCOS and to explore differences between medical disciplines in the Nordic countries and Estonia.Methods: This cross-sectional survey was conducted among 382 endocrinologists and obstetrician gynaecologists in the Nordic countries and Estonia in 2015-2016. Of the participating physicians, 43% resided in Finland, 18% in Denmark, 16% in Norway, 13% in Estonia, and 10% in Sweden or Iceland, and 75% were obstetrician-gynaecologists. Multivariable logistic regression models were run to identify health care provider characteristics for awareness, diagnosis and treatment of PCOS.Results: Clinical features, lifestyle management and comorbidity were commonly recognized in women with PCOS, while impairment in psychosocial wellbeing was not well acknowledged. Over two-thirds of the physicians used the Rotterdam diagnostic criteria for PCOS. Medical endocrinologists more often recommended lifestyle management (OR = 3.6, CI 1.6-8.1) or metformin (OR = 5.0, CI 2.5-10.2), but less frequently OCP (OR = 0.5, CI 0.2-0.9) for non fertility concerns than general obstetrician-gynaecologists. The physicians aged <35 years were 2.2 times (95% CI 1.1-4.3) more likely than older physicians to recommend lifestyle management for patients with PCOS for fertility concerns. Physicians aged 46-55 years were less likely to recommend oral contraceptive pills (OCP) for patients with PCOS than physicians aged >56 (adjusted odds ratio (OR) = 0.4, 95% CI 0.2-0.8).Conclusion: Despite well-organized healthcare, awareness, diagnosis and management of PCOS is suboptimal, especially in relation to psychosocial comorbidities, among physicians in the Nordic countries and Estonia. Physicians need more education on PCOS and evidence based information on Rotterdam diagnostic criteria, psychosocial features and treatment of PCOS, with the recently published international PCOS guideline well needed and welcomed.
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- Schei, Berit, et al.
(författare)
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A history of abuse and operative delivery : results from a European multi-country cohort study
- 2014
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Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- Objective The main aim of this study was to assess whether a history of abuse, reported during pregnancy, was associated with an operative delivery. Secondly, we assessed if the association varied according to the type of abuse and if the reported abuse had been experienced as a child or an adult. Design The Bidens study, a cohort study in six European countries (Belgium, Iceland, Denmark, Estonia, Norway, and Sweden) recruited 6724 pregnant women attending routine antenatal care. History of abuse was assessed through questionnaire and linked to obstetric information from hospital records. The main outcome measure was operative delivery as a dichotomous variable, and categorized as an elective caesarean section (CS), or an operative vaginal birth, or an emergency CS. Non-obstetrically indicated were CSs performed on request or for psychological reasons without another medical reason. Binary and multinomial regression analysis were used to assess the associations. Results Among 3308 primiparous women, sexual abuse as an adult (≥18 years) increased the risk of an elective CS, Adjusted Odds Ratio 2.12 (1.28–3.49), and the likelihood for a non-obstetrically indicated CS, OR 3.74 (1.24–11.24). Women expressing current suffering from the reported adult sexual abuse had the highest risk for an elective CS, AOR 4.07 (1.46–11.3). Neither physical abuse (in adulthood or childhood <18 years), nor sexual abuse in childhood increased the risk of any operative delivery among primiparous women. Among 3416 multiparous women, neither sexual, nor emotional abuse was significantly associated with any kind of operative delivery, while physical abuse had an increased AOR for emergency CS of 1.51 (1.05–2.19). Conclusion Sexual abuse as an adult increases the risk of an elective CS among women with no prior birth experience, in particular for non-obstetrical reasons. Among multiparous women, a history of physical abuse increases the risk of an emergency CS.
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- Wijma, Barbro, 1944-, et al.
(författare)
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Emotional, physical, and sexual abuse in patients visiting gynaecology clinics : a Nordic cross-sectional study
- 2003
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Ingår i: The Lancet. - 0140-6736 .- 1474-547X. ; 361:9375, s. 2107-2113
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundAbuse against women causes much suffering for individuals and is a major concern for society. We aimed to estimate the prevalence of three types of abuse in patients visiting gynaecology clinics in five Nordic countries, and to assess the frequency with which gynaecologists identify abuse victims.MethodsWe did a cross-sectional, multicentre study of women attending five departments of gynaecology in Denmark, Finland, Iceland, Norway, and Sweden. We recruited 4729 patients; 3641 (77%) responded and were included in the study. Participants completed a postal questionnaire (norvold abuse questionnaire) confidentially. Primary outcome measures were prevalences of emotional, physical, and sexual abuse, and whether abused patients had told their gynaecologist about these experiences. We assessed differences between countries with Pearson's χ2 test.FindingsThe ranges across the five countries of lifetime prevalence were 38–66% for physical abuse, 19–37% for emotional abuse, and 17–33% for sexual abuse. Not all abused women reported current ill-effects from the abusive experience. Most women (92–98%) had not talked to their gynaecologist about their experiences of abuse at their latest clinic visit.InterpretationDespite prevalences of emotional, physical, and sexual abuse being high in patients visiting gynaecology clinics in the Nordic countries, most victims of abuse are not identified by their gynaecologists. This lack of discussion might increase the risk of abused patients not being treated according to their needs. Gynaecologists should always consider asking their patients about abuse.
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