| 1. |
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| 2. |
- Figlioli, G, et al.
(författare)
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The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
- 2020
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 12:2
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Tidskriftsartikel (refereegranskat)abstract
- Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.
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| 11. |
- Jarvilehto, J., et al.
(författare)
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Serum Creatine, Not Neurofilament Light, Is Elevated in CHCHD10-Linked Spinal Muscular Atrophy
- 2022
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Ingår i: Frontiers in Neurology. - : Frontiers Media SA. - 1664-2295. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- ObjectiveTo characterize serum biomarkers in mitochondrial CHCHD10-linked spinal muscular atrophy Jokela (SMAJ) type for disease monitoring and for the understanding of pathogenic mechanisms. MethodsWe collected serum samples from a cohort of 49 patients with SMAJ, all carriers of the heterozygous c.197G>T p.G66V variant in CHCHD10. As controls, we used age- and sex-matched serum samples obtained from Helsinki Biobank. Creatine kinase and creatinine were measured by standard methods. Neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) were measured with single molecule array (Simoa), fibroblast growth factor 21 (FGF-21), and growth differentiation factor 15 (GDF-15) with an enzyme-linked immunosorbent assay. For non-targeted plasma metabolite profiling, samples were analyzed with liquid chromatography high-resolution mass spectrometry. Disease severity was evaluated retrospectively by calculating a symptom-based score. ResultsAxon degeneration marker, NfL, was unexpectedly not altered in the serum of patients with SMAJ, whereas astrocytic activation marker, GFAP, was slightly decreased. Creatine kinase was elevated in most patients, particularly men. We identified six metabolites that were significantly altered in serum of patients with SMAJ in comparison to controls: increased creatine and pyruvate, and decreased creatinine, taurine, N-acetyl-carnosine, and succinate. Creatine correlated with disease severity. Altered pyruvate and succinate indicated a metabolic response to mitochondrial dysfunction; however, lactate or mitochondrial myopathy markers FGF-21 or GDF-15 was not changed. ConclusionsBiomarkers of muscle mass and damage are altered in SMAJ serum, indicating a role for skeletal muscle in disease pathogenesis in addition to neurogenic damage. Despite the minimal mitochondrial pathology in skeletal muscle, signs of a metabolic shift can be detected.
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| 13. |
- Lansink, G. M. J., et al.
(författare)
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Potential for increased connectivity between differentiated wolverine populations
- 2022
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Ingår i: Biological Conservation. - : Elsevier. - 0006-3207 .- 1873-2917. ; 272
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Tidskriftsartikel (refereegranskat)abstract
- Information on genetic population structure provides important knowledge for species conservation. Yet, few studies combine extensive genetic data to evaluate the structure and population dynamics of transboundary populations. Here we used single nucleotide polymorphisms (SNPs), microsatellites and mitochondrial haplotypes to analyze the genetic population structure of wolverines (Gulo gulo) across Fennoscandia using a long-term monitoring dataset of 1708 individuals. Clear population subdivision was detected between the Scandinavian and the eastern Finnish population with a steep cline in the contact zone. While the Scandinavian population showed isolation by distance, large swaths of this population were characterized by high connectivity. Areas with high resistance to gene flow are likely explained by a combination of factors, such as historical isolation and founder effects. From a conservation perspective, promoting gene flow from the population in eastern Finland to the northwest of Scandinavia could augment the less variable Scandinavian population, and increase the demographic resilience of all subpopulations. Overall, the large areas of low resistance to gene flow suggest that transboundary cooperation with aligned actions of harvest and conflict mitigation could improve genetic connectivity across Finland, Sweden, and Norway.
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| 15. |
- Esbjörnsson, Joakim, et al.
(författare)
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Increased survival among HIV-1 and HIV-2 dual-infected individuals compared to HIV-1 single-infected individuals
- 2014
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Ingår i: AIDS. - 1473-5571. ; 28:7, s. 949-957
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To compare survival times of HIV-1 single and HIV-1 and HIV-2 dual-infected individuals. Design: Prospective open cohort study. Methods: We analysed data from 259 HIV-1-seroincident cases (either HIV-1 single or HIV-1 and HIV-2 dual-infected) from a cohort with long follow-up (similar to 20 years) in order to study the influence of type of infection and infection order on mortality. Sex and age at HIV-1 infection date was controlled for in a Cox proportional-hazards model. Results: Dual-infected individuals had a 42% longer time from HIV-1 infection to death compared with single-infected individuals, adjusting for age asymmetries between groups. Dual-infected individuals with an HIV-2 infection preceding the HIV-1 infection had a more than two-fold lower mortality risk during follow-up than HIV-1 single-infected individuals. Conclusion: Survival time is longer and the risk of progression to death is lower among HIV-1 and HIV-2 dual-infected individuals compared to HIV-1 single-infected individuals. This natural inhibition could have implications for the development of future HIV-1 vaccines and therapeutics.
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| 16. |
- Esbjörnsson, Joakim, et al.
(författare)
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Inhibition of HIV-1 disease progression by contemporaneous HIV-2 infection.
- 2012
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 367:3, s. 224-232
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Progressive immune dysfunction and the acquired immunodeficiency syndrome (AIDS) develop in most persons with untreated infection with human immunodeficiency virus type 1 (HIV-1) but in only approximately 20 to 30% of persons infected with HIV type 2 (HIV-2); among persons infected with both types, the natural history of disease progression is poorly understood. METHODS: We analyzed data from 223 participants who were infected with HIV-1 after enrollment (with either HIV-1 infection alone or HIV-1 and HIV-2 infection) in a cohort with a long follow-up duration (approximately 20 years), according to whether HIV-2 infection occurred first, the time to the development of AIDS (time to AIDS), CD4+ and CD8+ T-cell counts, and measures of viral evolution. RESULTS: The median time to AIDS was 104 months (95% confidence interval [CI], 75 to 133) in participants with dual infection and 68 months (95% CI, 60 to 76) in participants infected with HIV-1 only (P=0.003). CD4+ T-cell levels were higher and CD8+ T-cell levels increased at a lower rate among participants with dual infection, reflecting slower disease progression. Participants with dual infection with HIV-2 infection preceding HIV-1 infection had the longest time to AIDS and highest levels of CD4+ T-cell counts. HIV-1 genetic diversity was significantly lower in participants with dual infections than in those with HIV-1 infection alone at similar time points after infection. CONCLUSIONS: Our results suggest that HIV-1 disease progression is inhibited by concomitant HIV-2 infection and that dual infection is associated with slower disease progression. The slower rate of disease progression was most evident in participants with dual infection in whom HIV-2 infection preceded HIV-1 infection. These findings could have implications for the development of HIV-1 vaccines and therapeutics. (Funded by the Swedish International Development Cooperation Agency-Swedish Agency for Research Cooperation with Developing Countries and others.).
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| 17. |
- Esbjörnsson, Joakim, et al.
(författare)
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Long-term follow-up of HIV-2-related AIDS and mortality in Guinea-Bissau : a prospective open cohort study
- 2019
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Ingår i: The Lancet HIV. - : The Lancet Publishing Group. - 2405-4704 .- 2352-3018. ; 6:1, s. E25-E31
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: HIV type 2 (HIV-2) is considered more benign and has fewer pathogenic consequences than HIV type 1 (HIV-1) for most infected individuals. However, reliable estimates of time to AIDS and mortality among those with HIV-2 infection are absent. We therefore aimed to compare the time to AIDS and mortality, and the CD4 T-cell dynamics between those infected with HIV-1 and HIV-2.METHODS: We did a prospective open cohort study. We included all police officers with regular employment from police stations in both urban and rural areas of Guinea-Bissau since Feb 6, 1990. We continued to include participants until Sept 28, 2009, and follow-up of HIV-1-positive and HIV-2-positive individuals continued until Sept 28, 2013. We collected blood samples at enrolment and at scheduled annual follow-up visits at police stations. We analysed longitudinal data from individuals infected with HIV-1 and HIV-2 according to time to AIDS, time to death, and T-cell dynamics. Time of HIV infection was estimated as the mid-timepoint between last HIV-seronegative and first HIV-seropositive sample. Data from an additional 2984 HIV-uninfected individuals from the same population were analysed to assess the effect of natural mortality on HIV-related mortality.FINDINGS: 872 participants tested HIV positive during the 23-year study period: 408 were infected with HIV-1 (183 infected before and 225 infected after enrolment) and 464 were infected with HIV-2 (377 before and 87 after enrolment). The median time from HIV infection to development of AIDS was 6·2 years (95% CI 5·4-7·1) for HIV-1 infection and 14·3 years (10·7-18·0) for HIV-2 infection (p<0·0001). The median survival time after HIV infection was 8·2 years (95% CI 7·5-8·9) for HIV-1 infection and 15·6 years (12·0-19·2) for HIV-2 infection (p<0·0001). Individuals who were infected with HIV-1 or HIV-2 before enrolment showed similar results. Comparison with uninfected individuals indicated limited confounding contribution from natural mortality. Mean CD4 percentages were higher in individuals with HIV-2 than in those with HIV-1 during early infection (28·0% [SE 1·3] vs 22·3% [1·7]; p=0·00094) and declined at a slower rate (0·4% [0·2] vs 0·9% [0·2] per year; p=0·028). HIV-2-infected individuals developed clinical AIDS at higher mean CD4 percentages (18·2%, IQR 7·2-25·4) than HIV-1-infected individuals (8·2%, 3·0-13·8; p<0·0001).INTERPRETATION: Our results show that both HIV-1-infected and HIV-2-infected individuals have a high probability of developing and dying from AIDS without antiretroviral treatment.
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| 23. |
- Kvist, Linda J, 1952-, et al.
(författare)
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A descriptive study of Swedish women with symptoms of breast inflammation during lactation and their perceptions of the quality of care given at a breastfeeding clinic
- 2007
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Ingår i: International Breastfeeding Journal. - : Springer Science and Business Media LLC. - 1746-4358. ; 2:2
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundWomen's perceptions of quality of care during episodes of breast inflammation have been scantily explored. It was the objective of the present study to describe a cohort of breastfeeding women with inflammatory symptoms of the breast during lactation regarding demographical variables, illness history and symptoms at first contact with a breastfeeding clinic and to explore their physical health status, psychological well-being and perceptions of quality of care received, at a six-week postal follow-up.MethodsThis is a descriptive study set at a midwife-led breastfeeding clinic in Sweden, which included a cohort of women with 210 episodes of breast inflammation. The women had taken part in a RCT of acupuncture and care interventions and were recruited between 2002 and 2004. Of the total cohort, 176 (84 %) responded to a postal questionnaire, six weeks after recovery.ResultsOf the 154 women for whom body temperature was recorded at the first visit, 80 (52%) had fever ranging from 38.1°C to 40.7°C. There was no significant difference between those with favourable outcomes (5 or less contact days) and those with less favourable outcomes (6 or more contact days) for having fever or no fever at first contact. Thirty-six percent of women had damaged nipples. Significantly more women with a less favourable outcome (6 or more contact days) had damaged nipples. Most women recovered well from the episode of breast inflammation and 96% considered their physical health and 97% their psychological well-being, to be good, six weeks after the episode. Those whose illness lasted 6 days or more showed less confidence in the midwives and in the care given to them. Twenty-one (12%) women contacted health care services because of recurring symptoms and eight of the 176 responders (4.5%) were prescribed antibiotics for these recurring symptoms. A further 46 women (26% of the responders) reported recurring symptoms that they managed without recourse to health care services.ConclusionInitial fever may not be indicative of outcomes for women with inflammatory breast symptoms and treatment by antibiotic therapy may be necessary less often than has been supposed. Women who are also suffering from damaged nipples may need special attention. Those with protracted symptoms were less satisfied with care and showed less confidence in caregivers. International research collaboration might help us find the optimal level of antibiotic therapy for this group of women. This is an important consideration for the global community.
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| 24. |
- Kvist, Linda J, 1952-, et al.
(författare)
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A randomised-controlled trial in Sweden of acupuncture and care interventions for the relief of inflammatory symptoms of the breast during lactation
- 2007
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Ingår i: Midwifery. - : Elsevier BV. - 0266-6138 .- 1532-3099. ; 23:2, s. 184-195
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Tidskriftsartikel (refereegranskat)abstract
- Objectivesto further compare acupuncture treatment and care interventions for the relief of inflammatory symptoms of the breast during lactation and to investigate the relationship between bacteria in the breast milk and clinical signs and symptoms.Designrandomised, non-blinded, controlled trial of acupuncture and care interventions.Settinga midwife-led breast feeding clinic in Sweden.Participants205 mothers with 210 cases of inflammatory symptoms of the breast during lactation agreed to participate. The mothers were randomly assigned to one of three treatment groups, two of which included acupuncture among the care interventions and one without acupuncture. All groups were given essential care. Protocols, which included scales for erythema, breast tension and pain, were maintained for each day of contact with the breast feeding clinic. A Severity Index (SI) for each mother and each day was created by adding together the scores on the erythema, breast tension and pain scales. The range of the SI was 0 (least severe) to 19 (most severe).Findingsno significant difference was found in numbers of mothers in the treatment groups, with the lowest possible score for severity of symptoms on contact days 3, 4 or 5. No statistically significant differences were found between the treatment groups for number of contact days needed until the mother felt well enough to discontinue contact with the breast feeding clinic or for number of mothers prescribed antibiotics. Significant differences were found in the mean SI scores on contact days 3 and 4 between the non-acupuncture group and the two acupuncture groups. Mothers with less favourable outcomes (⩾6 contact days, n=61) were, at first contact with the midwife, more often given advice on correction of the baby's attachment to the breast. An obstetrician was called to examine 20% of the mothers, and antibiotic treatment was prescribed for 15% of the study population. The presence of Group B streptococci in the breast milk was related to less favourable outcomes.Key conclusions and implications for practiceif acupuncture treatment is acceptable to the mother, this, together with care interventions such as correction of breast feeding position and babies’ attachment to the breast, might be a more expedient and less invasive choice of treatment than the use of oxytocin nasal spray. Midwives, nurses or medical practitioners with specialist competence in breast feeding should be the primary care providers for mothers with inflammatory symptoms of the breast during lactation. The use of antibiotics for inflammatory symptoms of the breast should be closely monitored in order to help the global community reduce resistance development among bacterial pathogens.
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| 25. |
- Kvist Reimer, Martina, et al.
(författare)
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Long-term inhibition of dipeptidyl peptidase IV improves glucose tolerance and preserves islet function in mice.
- 2002
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Ingår i: European Journal of Endocrinology. - : Oxford University Press (OUP). - 1479-683X .- 0804-4643. ; 146:5, s. 717-727
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: Inhibitors of the glucagon-like peptide-1 (GLP-1)-degrading enzyme, dipeptidyl peptidase IV (DPPIV), are being explored in the treatment of diabetes. We examined the long-term influence of a selective, orally active inhibitor of DPPIV (NVP DPP728), in normal female C57BL/6J mice and such mice rendered glucose-intolerant and insulin-resistant by feeding a high-fat diet. DESIGN: In mice fed a standard diet (11% fat) or a high-fat diet (58% fat), NVP DPP728 (0.12 micromol/g body weight) was administered in the drinking water for an 8 week period. RESULTS: DPPIV inhibition reduced plasma DPPIV activity to 0.01+/-0.03 mU/ml vs 3.26+/-0.19 mU/ml in controls (P<0.001). Glucose tolerance after gastric glucose gavage, as judged by the area under the curve for plasma glucose levels over the 120 min study period, was increased after 8 weeks by NVP DPP728 in mice fed normal diet (P=0.029) and in mice fed a high-fat diet (P=0.036). This was accompanied by increased plasma levels of insulin and intact GLP-1. Glucose-stimulated insulin secretion from islets isolated from NVP DPP728-treated animals after 8 weeks of treatment was increased as compared with islets from control animals at 5.6, 8.3 and 11.1 mmol/l glucose both in mice fed normal diet and in mice fed a high-fat diet (both P<0.05). Islet insulin and glucagon immunocytochemistry revealed that NVP DPP728 did not affect the islet architecture. However, the expression of immunoreactive glucose transporter isoform-2 (GLUT-2) was increased by DPPIV inhibition, and in mice fed a high-fat diet, islet size was reduced after treatment with NVP DPP728 from 16.7+/-2.6 x 10(3) microm(2) in controls to 7.6+/-1.0 x 10(3) microm(2) (P=0.0019). CONCLUSION: Long-term DPPIV inhibition improves glucose tolerance in both normal and glucose-intolerant mice through improved islet function as judged by increased GLUT-2 expression, increased insulin secretion and protection from increased islet size in insulin resistance.
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| 26. |
- Lackey, Kimberly A., et al.
(författare)
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What's normal? Microbiomes in human milk and infant feces are related to each other but vary geographically : The inspire study
- 2019
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Ingår i: Frontiers in Nutrition. - : Frontiers Media SA. - 2296-861X. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- Background: Microbial communities in human milk and those in feces from breastfed infants vary within and across populations. However, few researchers have conducted cross-cultural comparisons between populations, and little is known about whether certain “core” taxa occur normally within or between populations and whether variation in milk microbiome is related to variation in infant fecal microbiome. The purpose of this study was to describe microbiomes of milk produced by relatively healthy women living at diverse international sites and compare these to the fecal microbiomes of their relatively healthy infants. Methods: We analyzed milk (n = 394) and infant feces (n = 377) collected from mother/infant dyads living in 11 international sites (2 each in Ethiopia, The Gambia, and the US; 1 each in Ghana, Kenya, Peru, Spain, and Sweden). The V1-V3 region of the bacterial 16S rRNA gene was sequenced to characterize and compare microbial communities within and among cohorts. Results: Core genera in feces were Streptococcus, Escherichia/Shigella, and Veillonella, and in milk were Streptococcus and Staphylococcus, although substantial variability existed within and across cohorts. For instance, relative abundance of Lactobacillus was highest in feces from rural Ethiopia and The Gambia, and lowest in feces from Peru, Spain, Sweden, and the US; Rhizobium was relatively more abundant in milk produced by women in rural Ethiopia than all other cohorts. Bacterial diversity also varied among cohorts. For example, Shannon diversity was higher in feces from Kenya than Ghana and US-California, and higher in rural Ethiopian than Ghana, Peru, Spain, Sweden, and US-California. There were limited associations between individual genera in milk and feces, but community-level analyses suggest strong, positive associations between the complex communities in these sample types. Conclusions: Our data provide additional evidence of within- and among-population differences in milk and infant fecal bacterial community membership and diversity and support for a relationship between the bacterial communities in milk and those of the recipient infant's feces. Additional research is needed to understand environmental, behavioral, and genetic factors driving this variation and association, as well as its significance for acute and chronic maternal and infant health.
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| 27. |
- Lane, Avery A., et al.
(författare)
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Household composition and the infant fecal microbiome : The INSPIRE study
- 2019
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Ingår i: American Journal of Physical Anthropology. - : Wiley. - 0002-9483 .- 1096-8644. ; 3:169, s. 526-539
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: Establishment and development of the infant gastrointestinal microbiome (GIM) varies cross-culturally and is thought to be influenced by factors such as gestational age, birth mode, diet, and antibiotic exposure. However, there is little data as to how the composition of infants' households may play a role, particularly from a cross-cultural perspective. Here, we examined relationships between infant fecal microbiome (IFM) diversity/composition and infants' household size, number of siblings, and number of other household members. Materials and methods: We analyzed 377 fecal samples from healthy, breastfeeding infants across 11 sites in eight different countries (Ethiopia, The Gambia, Ghana, Kenya, Peru, Spain, Sweden, and the United States). Fecal microbial community structure was determined by amplifying, sequencing, and classifying (to the genus level) the V1–V3 region of the bacterial 16S rRNA gene. Surveys administered to infants' mothers identified household members and composition. Results: Our results indicated that household composition (represented by the number of cohabitating siblings and other household members) did not have a measurable impact on the bacterial diversity, evenness, or richness of the IFM. However, we observed that variation in household composition categories did correspond to differential relative abundances of specific taxa, namely: Lactobacillus, Clostridium, Enterobacter, and Klebsiella. Discussion: This study, to our knowledge, is the largest cross-cultural study to date examining the association between household composition and the IFM. Our results indicate that the social environment of infants (represented here by the proxy of household composition) may influence the bacterial composition of the infant GIM, although the mechanism is unknown. A higher number and diversity of cohabitants and potential caregivers may facilitate social transmission of beneficial bacteria to the infant gastrointestinal tract, by way of shared environment or through direct physical and social contact between the maternal–infant dyad and other household members. These findings contribute to the discussion concerning ways by which infants are influenced by their social environments and add further dimensionality to the ongoing exploration of social transmission of gut microbiota and the “old friends” hypothesis.
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| 28. |
- Lutz, JM, et al.
(författare)
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Occupational risks for uveal melanoma results from a case-control study in nine European countries
- 2005
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Ingår i: Cancer Causes and Control. - : Springer Science and Business Media LLC. - 1573-7225 .- 0957-5243. ; 16:4, s. 437-447
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Tidskriftsartikel (refereegranskat)abstract
- Objective Uveal melanoma is a rare disease with poor prognosis and largely unknown etiology. We studied potential occupational risk factors. Methods A population based case-control study was undertaken during 1995-1997 in nine European countries using population and colon cancer controls with personal interviews. Occupational exposure to sunlight and artificial UV radiation was assessed with a job exposure matrix. In total, 320 uveal melanoma cases were eligible at pathology review, and 292 cases were interviewed, participation 91%. Out of 3357 population controls, 2062 were interviewed, 61%, and out of 1272 cancer controls 1094 were interviewed, 86%. Results Using population controls, occupational exposure to sunlight was not associated with an increased risk (RR=1.24, 95% CI=0.88-1.74), while an excess risk found with use of colon cancer controls was attributed to confounding factors. An excess risk in welders was restricted to the French part of the data. Cooks, RR=2.40; cleaners, RR 2.15; and laundry workers, RR=3.14, were at increased risk of uveal melanoma. Conclusion Our study does overall not support an association between occupational sunlight exposure and risk of uveal melanoma. The finding of an excess risk of eye melanoma in cooks in several European countries is intriguing.
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| 29. |
- McGuire, Michelle K., et al.
(författare)
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What's normal? Oligosaccharide concentrations and profiles in milk produced by healthy women vary geographically
- 2017
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Ingår i: American Journal of Clinical Nutrition. - : Elsevier BV. - 0002-9165. ; 105:5, s. 1086-1100
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Tidskriftsartikel (refereegranskat)abstract
- Background: Human milk is a complex fluid comprised of myriad substances, with one of the most abundant substances being a group of complex carbohydrates referred to as human milk oligosaccharides (HMOs). There has been some evidence that HMO profiles differ in populations, but few studies have rigorously explored this variability. Objectives: We tested the hypothesis that HMO profiles differ in diverse populations of healthy women. Next, we examined relations between HMO and maternal anthropometric and reproductive indexes and indirectly examined whether differences were likely related to genetic or environmental variations. Design: In this cross-sectional, observational study, milk was collected from a total of 410 healthy, breastfeeding women in 11 international cohorts and analyzed for HMOs by using high-performance liquid chromatography. Results: There was an effect of the cohort (P , 0.05) on concentrations of almost all HMOs. For instance, the mean 3-fucosyllactose concentration was .4 times higher in milk collected in Sweden than in milk collected in rural Gambia (mean ± SEM: 473 6 55 compared with 103 6 16 μmol/mL, respectively; P , 0.05), and disialyllacto-N-tetraose (DSLNT) concentrations ranged from 216 ± 14 μmol/mL (in Sweden) to 870 ± 68 μmol/mL (in rural Gambia) (P , 0.05). Maternal age, time postpartum, weight, and body mass index were all correlated with several HMOs, and multiple differences in HMOs [e.g., lacto-N-neotetrose and DSLNT] were shown between ethnically similar (and likely genetically similar) populations who were living in different locations, which suggests that the environment may play a role in regulating the synthesis of HMOs. Conclusions: The results of this study support our hypothesis that normal HMO concentrations and profiles vary geographically, even in healthy women. Targeted genomic analyses are required to determine whether these differences are due at least in part to genetic variation. A careful examination of sociocultural, behavioral, and environmental factors is needed to determine their roles in this regard. This study was registered at clinicaltrials.gov as NCT02670278.
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| 30. |
- Mårtensson, Lena, et al.
(författare)
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A national survey of how acupuncture is currently used in midwifery care at Swedish maternity units
- 2011
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Ingår i: Midwifery. - : Elsevier. - 0266-6138 .- 1532-3099. ; 27:1, s. 87-92
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Tidskriftsartikel (refereegranskat)abstract
- Objective: it is known how acupuncture is used in midwifery care in Sweden and what kind of requirements health-care providers have for midwives and acupuncture training programmes. The aims of this study were to survey indications for the use of acupuncture in midwifery care in Sweden, and to examine the criteria and requirements used for purchase of acupuncture education programmes.Design: a postal survey using a structured questionnaire.Setting: 45 maternity units in Sweden.Participants: the midwife-in-charge of the units.Measurements and findings: the most common indications for the use of acupuncture were relaxation, pain relief, retained placenta, after pains, milk stasis during lactation, hyperemesis and pelvic instability. Specific requirement for acupuncture education were provision of a short course during weekdays including a follow-up course.Key conclusion: acupuncture is widely used for many indications in Swedish maternity units despite weak or no evidence to support effectiveness in midwifery care. Requirements for acupuncture education did not seem to be in accordance with what might be expected for this type of qualified intervention.Implications for practice: the use of acupuncture in midwifery care should not persist until systematic evaluation of the effect of this method is carried through.
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| 31. |
- Mårtensson, Lena, et al.
(författare)
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National survey of how acupuncture education is organised for Swedish midwives
- 2011
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Ingår i: Midwifery. - : Elsevier. - 0266-6138 .- 1532-3099. ; 27:1, s. 93-98
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Tidskriftsartikel (refereegranskat)abstract
- Objective: In Sweden, acupuncture education is required before midwives can use the method in clinical practice. Courses in acupuncture are usually organised by private individuals or companies, and each health facility decides on the adequacy of the educational package. Therefore, there is no overall standard or quality control for free-standing courses of acupuncture education for midwives. The aim of this study was to survey the education given to Swedish midwives in the use of acupuncture treatment in the obstetric area. Design: a postal survey using a structured questionnaire. Setting: organisers of acupuncture education. Participants: 18 acupuncture instructors. Measurements and findings: acupuncture courses were usually organised outside universities and colleges. The courses were similar in terms of extent and content, and were mainly based on a Western medical approach. The recommended indications were extensive despite a lack of scientific evidence.The most common instructor profile was a midwife without any academic degree. Key conclusions and implications for practice: courses differed considerably in the extent to which they were research based. Continuing professional education for midwives should be given at the same academic level, at least, as basic midwifery education.
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| 32. |
- Nagendrababu, V., et al.
(författare)
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Preferred Reporting Items for RAndomized Trials in Endodontics (PRIRATE) guidelines: a development protocol
- 2019
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Ingår i: International Endodontic Journal. - : Wiley. - 0143-2885 .- 1365-2591. ; 52:7, s. 974-978
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Tidskriftsartikel (refereegranskat)abstract
- Randomized clinical trials are acknowledged as the most appropriate methodology for demonstrating the efficacy or effectiveness of one intervention as opposed to another and thus play a major role in clinical decision-making. However, it is recognized that despite the existence of various guidelines, for example, the Consolidated Standards for Reporting Trials (CONSORT) statement, the quality of manuscripts describing randomized trials is often suboptimal. The current project aims to develop and disseminate new guidelines, Preferred Reporting Items for RAndomized Trials in Endodontics (PRIRATE), to improve the planning and reporting quality of randomized trials in the field of Endodontics. The project leads (VN, PD) designed a robust process to develop the PRIRATE guidelines. At first, a steering committee of eight members, including the project leads, was formed. Thereafter, a five-stage consensus process will be followed: initial steps, pre-meeting activities, face-to-face consensus meeting, post-meeting activities and post-publication activities. The steering committee will develop the first draft of the PRIRATE guidelines by identifying relevant and important items from various sources including the CONSORT guidelines and the Clinical and Laboratory Images in Publications (CLIP) principles. This will be followed by the establishment of a PRIRATE Delphi Group (PDG) consisting of 30 members. The individual items of the first draft of the PRIRATE guidelines developed by the steering committee will be evaluated and scored on a 9-point Likert scale by the PDG members. Items with a score of seven and above by more than 70% of PDG members will be included in the second draft of the guidelines, and the Delphi process will be repeated until each item fulfils the set conditions. After obtaining consensus from the PDG, the PRIRATE guidelines will be discussed by 20 selected individuals within a PRIRATE Face-to-face Consensus Meeting Group (PFCMG) to arrive at a final consensus. The final PRIRATE guidelines will be accompanied with an explanation and elaboration document developed by the steering committee and approved by six members, three from the PDG and three from the PFCMG. The PRIRATE guidelines will be published in journals and actively disseminated to educational institutions, national and international academic societies and presented at scientific meetings. The steering committee will periodically revise and update the PRIRATE guidelines based on feedback from stakeholders.
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| 33. |
- Nagendrababu, V., et al.
(författare)
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PRIRATE 2020 guidelines for reporting randomized trials in Endodontics: a consensus-based development
- 2020
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Ingår i: International Endodontic Journal. - : Wiley. - 0143-2885 .- 1365-2591. ; 53:6, s. 764-773
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Tidskriftsartikel (refereegranskat)abstract
- In evidence-based health care, randomized clinical trials provide the most accurate and reliable information on the effectiveness of an intervention. This project aimed to develop reporting guidelines, exclusively for randomized clinical trials in the dental specialty of Endodontology, using a well-documented, validated consensus-based methodology. The guidelines have been named Preferred Reporting Items for RAndomized Trials in Endodontics (PRIRATE) 2020. A total of eight individuals (PD, VN, HD, LB, TK, JJ, EP and SP), including the project leaders (PD and VN) formed a steering committee. The committee developed a checklist based on the items in the Consolidated Standards of Reporting Trials (CONSORT) guidelines and Clinical and Laboratory Images in Publications (CLIP) principles. A PRIRATE Delphi Group (PDG) and PRIRATE Face-to-Face Meeting group (PFMG) were also formed. Thirty PDG members participated in the online Delphi process and achieved consensus on the checklist items and flowchart that make up the PRIRATE guidelines. The guidelines were discussed at a meeting of the PFMG at the 19th European Society of Endodontology (ESE) Biennial congress, held on 13 September 2019 in Vienna, Austria. A total of 21 individuals from across the globe and four steering committee members (PD, VN, HD and LB) attended the meeting. As a consequence of the discussions, the guidelines were modified and then piloted by several authors whilst writing a manuscript. The PRIRATE 2020 guidelines contain a checklist consisting of 11 sections and 58 individual items as well as a flowchart, considered essential for authors to include when writing manuscripts for randomized clinical trials in Endodontics.
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| 34. |
- Nagendrababu, V., et al.
(författare)
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PRIRATE 2020 guidelines for reporting randomized trials in Endodontics: explanation and elaboration
- 2020
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Ingår i: International Endodontic Journal. - : Wiley. - 0143-2885 .- 1365-2591. ; 53:6, s. 774-803
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Tidskriftsartikel (refereegranskat)abstract
- Well-designed and properly conducted randomized clinical trials provide a true estimate of the effects of interventions and are acknowledged as the gold standard in terms of clinical study design. However, the quality of randomized clinical trials published in the field of Endodontics is suboptimal. The Preferred Reporting Items for RAndomized Trials in Endodontics (PRIRATE) 2020 guidelines were developed exclusively for Endodontics by integrating and adapting the CONsolidated Standards of Reporting Trials (CONSORT) statement and Clinical and Laboratory Images in Publications (CLIP) principles, through an accepted and well-documented consensus process. Full implementation of the PRIRATE 2020 guidelines will minimize potential sources of bias and thus enhance the standard of manuscripts submitted for publication, which will ultimately improve the reporting of randomized clinical trials in Endodontics. The aim of this document is to provide an explanation for each item in the PRIRATE 2020 checklist and flowchart with examples from the literature in order to help authors understand their rationale and significance. A link to this PRIRATE 2020 explanation and elaboration document is available on the Preferred Reporting Items for study Designs in Endodontology (PRIDE) website at .
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| 35. |
- Pace, Ryan M., et al.
(författare)
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Variation in human milk composition is related to differences in milk and infant fecal microbial communities
- 2021
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Ingår i: Microorganisms. - : MDPI AG. - 2076-2607. ; 9:6
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Tidskriftsartikel (refereegranskat)abstract
- Previously published data from our group and others demonstrate that human milk oligosaccharide (HMOs), as well as milk and infant fecal microbial profiles, vary by geography. However, little is known about the geographical variation of other milk-borne factors, such as lactose and protein, as well as the associations among these factors and microbial community structures in milk and infant feces. Here, we characterized and contrasted concentrations of milk-borne lactose, protein, and HMOs, and examined their associations with milk and infant fecal microbiomes in samples collected in 11 geographically diverse sites. Although geographical site was strongly associated with milk and infant fecal microbiomes, both sample types assorted into a smaller number of community state types based on shared microbial profiles. Similar to HMOs, concentrations of lactose and protein also varied by geography. Concentrations of HMOs, lactose, and protein were associated with differences in the microbial community structures of milk and infant feces and in the abundance of specific taxa. Taken together, these data suggest that the composition of human milk, even when produced by relatively healthy women, differs based on geographical boundaries and that concentrations of HMOs, lactose, and protein in milk are related to variation in milk and infant fecal microbial communities.
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| 36. |
- Parsons, Michael T, et al.
(författare)
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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
- 2019
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; , s. 1557-1578
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Tidskriftsartikel (refereegranskat)abstract
- The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared to information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known non-pathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification. This article is protected by copyright. All rights reserved.
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| 37. |
- Persson, Eva-Kristina, et al.
(författare)
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Fathers' sense of security during the first postnatal week-A qualitative interview study in Sweden
- 2012
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Ingår i: Midwifery. - : Elsevier BV. - 0266-6138 .- 1532-3099. ; 28:5, s. e697-e704
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Tidskriftsartikel (refereegranskat)abstract
- Background father's sense of security in the early postnatal period is important for the whole family. An instrument, which measures Parents' Postnatal Sense of Security (the PPSS instrument), is under development.Objective to explore and describe factors, which influence fathers' sense of security during the first postnatal week.Methods an explorative design with a qualitative approach was used. Thirteen fathers from three hospital uptake areas in Southern Sweden were interviewed using focus group discussions and individual interviews. Analysis was carried out using qualitative content analysis.Findings participation in the processes of pregnancy birth and early parenthood emerged as the main category for fathers' postnatal sense of security. The emergent categories were; ‘willingness to participate and take responsibility’, ‘being given the opportunity to take responsibility’, ‘being assured about mother's and baby's well-being’, ‘having someone to turn to—knowing who to ask’, ‘being met as an individual’ and ‘being met by competent and supporting staff’.Key conclusions and implications for practice new and specific items of importance when investigating fathers' sense of security during the early postnatal period have been pinpointed. Fathers' sense of early postnatal security may be enhanced by giving them a genuine opportunity to participate in the whole process and by giving them the opportunity to stay overnight at the hospital after the birth. Midwives and care organisations need to give clear information about where competent help and advice can be obtained at all hours. Midwives should strengthen the fathering role by acknowledging and listening to the father as an individual person.
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| 38. |
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| 39. |
- Peterlongo, Paolo, et al.
(författare)
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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
- 2015
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5345-5355
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Tidskriftsartikel (refereegranskat)abstract
- Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.
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| 40. |
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| 41. |
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| 42. |
- Sjogren, J. J., et al.
(författare)
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The frequency and characteristics of pain and discomfort associated with root filled teeth: a practice-based study
- 2019
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Ingår i: International Endodontic Journal. - : Wiley. - 0143-2885 .- 1365-2591. ; 52:9, s. 1264-1273
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Tidskriftsartikel (refereegranskat)abstract
- Aim To (i) investigate the frequency and characteristics of pain and discomfort associated with root filled teeth in adult patients regularly attending the Public Dental Service in orebro County, Sweden; (ii) assess the association between symptoms and clinical and radiographic findings; and (iii) explore the impact of pain and discomfort from root filled teeth on daily life. Methodology Patient records of adult patients (>= 20 years) scheduled for routine check-ups in April 2015 were screened to identify individuals with root filled teeth; all patients with >= 1 root filled tooth were asked to participate. The examination comprised of clinical and radiographic examinations and questionnaires on general health, on pain symptoms from root filled teeth and on the impact of pain on daily activities. In a general estimating equation (GEE), examination findings and patient-related factors were independently analysed in relation to the outcome 'presence of pain'. Results In total, 550 patients with 1256 root filled teeth participated. Fifty-three patients (9.6%) experienced pain or discomfort from 62 (4.9%) root filled teeth. Lower age, percussion tenderness and apical tenderness were significantly associated with pain (P > 0.001 to P = 0.044). The average pain intensity was 2.1 on a (0-10) Numeric Rating Scale, and average duration was 28.4 months. The impact on daily life was low. Conclusions On average, pain associated with root filled teeth was of mild intensity, >2 years of duration and had low impact on daily life. Although the significantly associated clinical findings may indicate apical periodontitis as the most probable explanation in some teeth, the origin of pain from root filled teeth remains partly unexplained.
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| 43. |
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| 44. |
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| 45. |
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| 46. |
- Thies-Lagergren, Li, et al.
(författare)
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Striving for scientific stringency : a re-analysis of a randomised controlled trial considering first-time mothers' obstetric outcomes in relation to birth position.
- 2012
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Ingår i: BMC Pregnancy and Childbirth. - : Springer Science and Business Media LLC. - 1471-2393 .- 1471-2393. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The aim of this study was to compare maternal labour and birth outcomes between women who gave birth on a birth seat or in any other position for vaginal birth and further, to study the relationship between synthetic oxytocin augmentation and maternal blood loss, in a stratified sample.METHODS: A re-analysis of a randomized controlled trial in Sweden. An on-treatment analysis was used to study obstetrical outcomes for nulliparous women who gave birth on a birth seat (birth seat group) compared to birth in any other position for vaginal birth (control group). Data were collected between November 2006 and July 2009. The outcome measurements included perineal outcome, post partum blood loss, epidural analgesia, synthetic oxytocin augmentation and duration of labour.RESULTS: The major findings of this paper were that women giving birth on the birth seat had shorter duration of labour and were significantly less likely to receive synthetic oxytocin for augmentation in the second stage of labour. Significantly more women had an increased blood loss when giving birth on the birth seat, but had no difference in perineal outcomes. Blood loss was increased regardless of birth position if women had been exposed to synthetic oxytocin augmentation during the first stage of labour.CONCLUSIONS: The results of this analysis imply that women with a straightforward birth process may well benefit from giving birth on a birth seat without risk for any adverse obstetrical outcomes. However it is important to bear in mind that, women who received synthetic oxytocin during the first stage of labour may have an increased risk for greater blood loss when giving birth on a birth seat. Finally it is of vital importance to scrutinize the influence of synthetic oxytocin administered during the first stage of labour on blood loss postpartum, since excessive blood loss is a well-documented cause of maternal mortality worldwide and may cause severe maternal morbidity in high-income countries.TRIAL REGISTRATION: Unique Protocol ID: NCT01182038 ( http://register.clinicaltrials.gov).
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| 47. |
- Winter, C, et al.
(författare)
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Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic
- 2016
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Ingår i: Annals of Oncology. - : Elsevier BV. - 1569-8041 .- 0923-7534. ; 27:8, s. 8-1532
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: A mutation found in the BRCA1 or BRCA2 gene of a breast tumor could be either germline or somatically acquired. The prevalence of somatic BRCA1/2 mutations and the ratio between somatic and germline BRCA1/2 mutations in unselected breast cancer patients are currently unclear.PATIENTS AND METHODS: Paired normal and tumor DNA was analyzed for BRCA1/2 mutations by massively parallel sequencing in an unselected cohort of 273 breast cancer patients from south Sweden.RESULTS: Deleterious germline mutations in BRCA1 (n = 10) or BRCA2 (n = 10) were detected in 20 patients (7%). Deleterious somatic mutations in BRCA1 (n = 4) or BRCA2 (n = 5) were detected in 9 patients (3%). Accordingly, about 1 in 9 breast carcinomas (11%) in our cohort harbor a BRCA1/2 mutation. For each gene, the tumor phenotypes were very similar regardless of the mutation being germline or somatically acquired, whereas the tumor phenotypes differed significantly between wild-type and mutated cases. For age at diagnosis, the patients with somatic BRCA1/2 mutations resembled the wild-type patients (median age at diagnosis, germline BRCA1: 41.5 years; germline BRCA2: 49.5 years; somatic BRCA1/2: 65 years; wild-type BRCA1/2: 62.5 years).CONCLUSIONS: In a population without strong germline founder mutations, the likelihood of a BRCA1/2 mutation found in a breast carcinoma being somatic was ∼1/3 and germline 2/3. This may have implications for treatment and genetic counseling.
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| 48. |
- Abrahamsson, Per, 1985, et al.
(författare)
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Analysis of mesoscale effects in high-shear granulation through a computational fluid dynamics–population balance coupled compartment model
- 2018
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Ingår i: Particuology. - : Elsevier BV. - 2210-4291 .- 1674-2001. ; 36, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- There is a need for mesoscale resolution and coupling between flow-field information and the evolution of particle properties in high-shear granulation. We have developed a modelling framework that compartmentalizes the high-shear granulation process based on relevant process parameters in time and space. The model comprises a coupled-flow-field and population-balance solver and is used to resolve and analyze the effects of mesoscales on the evolution of particle properties. A Diosna high-shear mixer was modelled with microcrystalline cellulose powder as the granulation material. An analysis of the flow-field solution and compartmentalization allows for a resolution of the stress and collision peak at the impeller blades. Different compartmentalizations showed the importance of resolving the impeller region, for aggregating systems and systems with breakage. An independent study investigated the time evolution of the flow field by changing the particle properties in three discrete steps that represent powder mixing, the initial granulation stage mixing and the late stage granular mixing. The results of the temporal resolution study show clear changes in collision behavior, especially from powder to granular mixing, which indicates the importance of resolving mesoscale phenomena in time and space.
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| 49. |
- Ahlden, M., et al.
(författare)
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Individualiserad terapi viktigt vid främre korsbandsskada
- 2014
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Ingår i: Läkartidningen. - : Swedish Medical Association. - 0023-7205 .- 1652-7518. ; 111:36, s. 1440-
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Tidskriftsartikel (refereegranskat)abstract
- Anterior cruciate ligament (ACL) injury is a common injury and is often associated with concomitant injuries to the menisci and cartilage and, in the long term, osteoarthritis. Preventive training programs have shown to be highly effective in terms of reducing the risk for ACL injury in sports. ACL reconstruction is indicated when the patient experiences symtoms of instability (»giving way«) despite rehabilitation with a physiotherapist aiming to gain neuromuscular control of the knee. Early ACL reconstruction may be indicated, for example when the patient desires to return to pivoting contact-sports at high level. Modern surgical technique for ACL reconstruction has evolved rapidly and includes »anatomic reconstruction« and individualized treatment, where each patient’s unique anatomy, injury and requests on knee function are taken into consideration. In Sweden, more than 90% of all ACL reconstructions performed are included into the Swedish National ACL Register.
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| 50. |
- Ahola, Virpi, et al.
(författare)
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The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera
- 2014
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5, s. 4737-
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype of n = 31. Using a phylogenetic analyses of Nymphalidae and of other Lepidoptera, combined with orthologue-level comparisons of chromosomes, we conclude that the ancestral lepidopteran karyotype has been n = 31 for at least 140 My. We show that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites. The same, shortest ancestral chromosomes have independently participated in fusion events in species with smaller karyotypes. The short chromosomes have higher rearrangement rate than long ones. These characteristics highlight distinctive features of the evolutionary dynamics of butterflies and moths.
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