| 1. |
- Anney, Richard, et al.
(författare)
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A genome-wide scan for common alleles affecting risk for autism.
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
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Tidskriftsartikel (refereegranskat)abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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| 2. |
- Anney, Richard, et al.
(författare)
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Individual common variants exert weak effects on the risk for autism spectrum disorders.
- 2012
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:21, s. 4781-92
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Tidskriftsartikel (refereegranskat)abstract
- While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
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| 3. |
- Bellomo, Rinaldo, et al.
(författare)
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Early acid-base and blood pressure effects of continuous renal replacement therapy intensity in patients with metabolic acidosis
- 2013
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Ingår i: Intensive Care Medicine. - : Springer Science and Business Media LLC. - 0342-4642 .- 1432-1238. ; 39:3, s. 429-436
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE:In acute kidney injury patients, metabolic acidosis is common. Its severity, duration, and associated changes in mean arterial pressure (MAP) and vasopressor therapy may be affected by the intensity of continuous renal replacement therapy (CRRT). We aimed to compare key aspects of acidosis and MAP and vasopressor therapy in patients treated with two different CRRT intensities.METHODS:We studied a nested cohort of 115 patients from two tertiary intensive care units (ICUs) within a large multicenter randomized controlled trial treated with lower intensity (LI) or higher intensity (HI) CRRT.RESULTS:Levels of metabolic acidosis at randomization were similar [base excess (BE) of -8 ± 8 vs. -8 ± 7 mEq/l; p = 0.76]. Speed of BE correction did not differ between the two groups. However, the HI group had a greater increase in MAP from baseline to 24 h (7 ± 3 vs. 0 ± 3 mmHg; p < 0.01) and a greater decrease in norepinephrine dose (from 12.5 to 3.5 vs. 5 to 2.5 μg/min; p < 0.05). The correlation (r) coefficients between absolute change in MAP and norepinephrine (NE) dose versus change in BE were 0.05 and -0.37, respectively.CONCLUSIONS:Overall, LI and HI CRRT have similar acid-base effects in patients with acidosis. However, HI was associated with greater improvements in MAP and vasopressor requirements (clinical trial no. NCT00221013).
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| 4. |
- Bölte, Sven, et al.
(författare)
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Sex and gender in neurodevelopmental conditions
- 2023
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Ingår i: Nature Reviews Neurology. - : Springer Science and Business Media LLC. - 1759-4758 .- 1759-4766. ; 19:3, s. 136-159
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Tidskriftsartikel (refereegranskat)abstract
- Health-related conditions often differ qualitatively or quantitatively between individuals of different birth-assigned sexes and gender identities, and/or with different gendered experiences, requiring tailored care. Studying the moderating and mediating effects of sex-related and gender-related factors on impairment, disability, wellbeing and health is of paramount importance especially for neurodivergent individuals, who are diagnosed with neurodevelopmental conditions with uneven sex/gender distributions. Researchers have become aware of the myriad influences that sex-related and gender-related variables have on the manifestations of neurodevelopmental conditions, and contemporary work has begun to investigate the mechanisms through which these effects are mediated. Here we describe topical concepts of sex and gender science, summarize current knowledge, and discuss research and clinical challenges related to autism, attention-deficit/hyperactivity disorder and other neurodevelopmental conditions. We consider sex and gender in the context of epidemiology, behavioural phenotypes, neurobiology, genetics, endocrinology and neighbouring disciplines. The available evidence supports the view that sex and gender are important contributors to the biological and behavioural variability in neurodevelopmental conditions. Methodological caveats such as frequent conflation of sex and gender constructs, inappropriate measurement of these constructs and under-representation of specific demographic groups (for example, female and gender minority individuals and people with intellectual disabilities) limit the translational potential of research so far. Future research and clinical implementation should integrate sex and gender into next-generation diagnostics, mechanistic investigations and support practices.
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| 5. |
- Casey, Jillian P, et al.
(författare)
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A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
- 2012
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 131:4, s. 565-579
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
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| 6. |
- Dykes, Charlotta, et al.
(författare)
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Women's perceptions of factors needed to encourage a culture of public breastfeeding : a cross-sectional study in Sweden, Ireland and Australia
- 2023
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Ingår i: International Breastfeeding Journal. - 1746-4358. ; 18, s. 1-8
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Breastfeeding in the public sphere is known to be experienced as a problem for many women. It has been shown to arouse negative feelings among the public, depending on the attitude of those in the immediate surroundings. This contributes to the fact that many women hesitate to breastfeed in public and prepare themselves for potential adverse comments.METHODS: An online survey was used for an international cross-sectional study including women living in Sweden (n = 1252), Australia (n = 7602) and Ireland (n = 1597). Women who had breastfed within the previous two years were invited to participate through Facebook. One key open-ended question was presented, inviting women to respond to: "What do you think is important or needed to encourage a breastfeeding culture where breastfeeding in public is seen as normal?" During 2018, data were collected during a four-week period. A thematic analysis of women's responses was conducted separately in each country and then comparison and negotiation occurred once similarities between themes and subthemes were confirmed. Frequencies of subthemes were then determined and compared between the three countries.RESULTS: Seven subthemes developed from the data; 'Make breastfeeding visible in society'; 'Healthcare professionals support and knowledge regarding breastfeeding'; 'Education of the public'; 'Inviting environment'; 'Zero tolerance to other's unwanted opinions'; 'Focusing on the needs and rights of the breastfeeding dyad'; and 'Desexualize breastfeeding and women's' bodies in society'. Subthemes were integrated under two themes; 'Active supportive interventions needed for breastfeeding' and 'The obvious right of breastfeeding women and children to take a seat in the public sphere'.CONCLUSION: The common experience that exists today regarding public breastfeeding requires change towards normalization. Further collaborative research is recommended to meet the expressed requirements from women who wish to breastfeed in public.
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| 7. |
- Gallagher, Louise, et al.
(författare)
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Australian, Irish, and Swedish women’s comfort levels when breastfeeding in public
- 2023
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Ingår i: BMC Public Health. - 1471-2458. ; 23
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Tidskriftsartikel (refereegranskat)abstract
- BackgroundDespite a flux of global initiatives to increase and sustain breastfeeding rates, challenges persist. The decision to commence and sustain breastfeeding is influenced by multiple, complex factors. Feelings of social embarrassment, shame, fear of judgement, and lack of confidence when breastfeeding in public, compound women’s decisions to breastfeed and may result in formula feeding or early cessation of breastfeeding. A greater understanding of where and how women feel most comfortable when breastfeeding in public can assist in designing interventions to support the initiation and continuation of breastfeeding.MethodsA cross-sectional survey was conducted with women living in Australia (n = 10,910), Sweden (n = 1,520), and Ireland (n = 1,835), who were currently breastfeeding or who had breastfed within the previous two years. Our aim was to explore where, and how often women breastfeed in public and to compare their levels of comfort when breastfeeding in public. Data were collected in 2018 using an anonymous online survey over a four-week period in Ireland, Australia, and Sweden, and were analyzed using SPSS Version 25.ResultsMost respondents were highly educated, with over 70% in each country reporting having a university or college degree. Observing women breastfeeding in public was more commonly reported to be a weekly or daily occurrence in Sweden (24.5%) and Australia (28%), than in Ireland (13.3%). Women in the participating countries reported breastfeeding in public most commonly whenever their babies needed feeding. Very few women never or rarely breastfed publicly. Coffee shops/cafes, restaurants, and parks were the most popular locations. In all three countries, partners were reported to be very supportive of breastfeeding in public, which enhanced breastfeeding women’s comfort levels. When asked to score out of a maximum comfort level of 10, women reported higher mean levels of comfort when breastfeeding in front of strangers (Ireland M = 7.33, Australia M = 6.58, Sweden M = 6.75) than with those known to them, particularly in front of their father-in-law (Ireland M = 5.44, Australia M = 5.76, Sweden M = 6.66 out of 10), who scored lowest in terms of women’s comfort levels.ConclusionThis study offers important insights into the experiences and comfort levels of women breastfeeding in public. Limitations include the anonymous nature of the surveys, thus preventing follow-up, and variances in terminology used to describe locations across the three settings. Recommendations are made for research to determine the relationships between the frequency of breastfeeding in public and breastfeeding women’s perceived comfort levels, the influence of family members’ perceptions of breastfeeding in public and women’s experiences, and the experience of women who feel uncomfortable while breastfeeding in public, with a view to developing support measures.
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| 8. |
- Gallagher, Robyn, et al.
(författare)
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Social Support and Self-care in Heart Failure
- 2011
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Ingår i: Journal of Cardiovascular Nursing. - : Lippincott, Williams & Wilkins. - 0889-4655 .- 1550-5049. ; 26:6, s. 439-445
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND AND OBJECTIVE:: Self-care by heart failure (HF) patients is essential for optimal disease management of their condition. However, as the nature of HF is unrelenting and burdensome, self-care is usually achieved with the support of partners. It is not clear what role the level of social support by partners plays in HF self-care; therefore, this study sets out to determine the types of social support provided to HF patients and the impact of differing levels of social support on HF patients' self-care. SUBJECTS AND METHOD:: This is secondary analysis of a subgroup of patients experiencing their second hospital admission for HF at baseline in the COACH study, a multisite trial conducted in the Netherlands. Measures included the European Heart Failure Self-care Behaviour Scale and a multiple component assessment of social support, which categorized patients into low, moderate, and high levels of social support according to the presence of a partner and their perception of support they received from their partner. RESULTS AND CONCLUSIONS:: Patients (n = 333) had an average age of 72 (SD, 11) years, and 92% belonged to New York Heart Association class III or greater. Of the patients with partners (56%), only 49% had a high level of support from their partner. No demographic or clinical characteristic was associated with self-care behavior. Patients with a high level of support reported significantly better self-care (P = .002) than patients with low or moderate levels of social support. Patients with a high level of social support reported being significantly more likely to consult with a health professional for weight gain (P = .011), to limit the amount of fluids they have (P = .02), take their medication (P = .017), to get a flu shot (P = .001), and to exercise on a regular basis (P < .001) than those with medium or low levels of social support. The presence of social support by a partner is not sufficient to influence HF patients' self-care. Social support provided by partners needs to be of a quality and content that matches HF patients' perception of need to influence self-care. Caregivers, especially partners, should be considered as integral in the treatment and care of HF patients.
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| 9. |
- Hauck, Yvonne, et al.
(författare)
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Australian, Irish and Swedish women's perceptions of what assisted them to breastfeed for six months: exploratory design using critical incidence technique
- 2016
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Ingår i: BMC Public Health. - : Springer Science and Business Media LLC. - 1471-2458. ; 16:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Breastfeeding initiation rates in some developed countries are high (98 % in Sweden and 96 % inAustralia) whereas in others, they are not as favourable (46 % to 55 % in Ireland). Although the World Health Organization recommends exclusively breastfeeding for six months, 15 % of Australian women, 11 % of Swedish women and less than 7 % of Irish women achieve this goal. Awareness of what women in different countries perceive as essential breastfeeding support is a gap in our knowledge.Methods: Our aim was to explore Australian, Irish and Swedish women’s perceptions of what assisted them tocontinue breastfeeding for six months. An exploratory design using critical incident techniques was used. Recruitment occurred through advertisements in local newspapers and on social networking platforms. Initial sampling was purposive, followed by snowball sampling. Telephone interviews were conducted with 64 Irish, 139 Swedish and 153 Australian women who responded to one question “what has assisted you to continue breastfeeding for at least six months?” Content analysis was conducted and common categories determined toallow comparison of frequencies and priority ranking.Results: Categories reflected the individual mother, her inner social network, her outer social network (informal support either face to face or online), and societal support (health professionals, work environment and breastfeeding being regarded as the cultural norm). Categories ranked in the top five across the three countries were ‘informal face to face support’ and ‘maternal determination’. Swedish and Australian women ranked “health professional support” higher (first and third respectively) than Irish women who ranked ‘informal online support’ as second compared to ninth and tenth for Swedish and Australian women.Conclusions: The support required to assist breastfeeding women is complex and multi-faceted. Although common international categories were revealed, the ranking of these supportive categories varied. We must recognize how the cultural context of breastfeeding support can vary for women in differing countries and acknowledge the resourcefulness of women who embrace innovations such as social media where face to face formal and informal support are not as accessible.
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| 10. |
- Hauck, Yvonne L, et al.
(författare)
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Helpful and challenging aspects of breastfeeding in public for women living in Australia, Ireland and Sweden : a cross-sectional study
- 2020
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Ingår i: International Breastfeeding Journal. - : Springer Science and Business Media LLC. - 1746-4358. ; 15:1, s. 38-38
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Breastfeeding in public continues to be contentious with qualitative evidence confirming that women face many challenges. It is therefore important to gain understanding of not only the challenges but also what women perceive is helpful to breastfeed in public.METHODS: A cross-sectional study was conducted with women living in Australia, Ireland or Sweden currently breastfeeding or having breastfed within the previous 2 years. Our objective was to explore and compare what women do when faced with having to breastfeed in the presence of someone they are uncomfortable with and what women think is helpful and challenging when considering whether to breastfeed in public. Data were collected in 2018 from an online survey over a 4 week period in each country. Content analysis revealed data similarity and theme names and definitions were negotiated until consensus was reached. How often each theme was cited was counted to report frequencies. Helpful and challenging aspects were also ranked by women to allow international comparison.RESULTS: Ten themes emerged around women facing someone they were uncomfortable to breastfeed in the presence of with the most frequently cited being: 'made the effort to be discreet'; 'moved to a private location'; 'turned away' and 'just got on with breastfeeding'. Nine themes captured challenges to breastfeed in public with the following ranked in the top five across countries: 'unwanted attention'; 'no comfortable place to sit'; 'environment not suitable'; 'awkward audience' and 'not wearing appropriate clothing'. Nine themes revealed what was helpful to breastfeed in public with the top five: 'supportive network'; 'quiet private suitable environment'; 'comfortable seating'; 'understanding and acceptance of others' and 'seeing other mothers' breastfeed'.CONCLUSIONS: When breastfeeding in public women are challenged by shared concerns around unwanted attention, coping with an awkward audience and unsuitable environments. Women want to feel comfortable when breastfeeding in a public space. How women respond to situations where they are uncomfortable is counterproductive to what they share would be helpful, namely seeing other mothers breastfeed. Themes reveal issues beyond the control of the individual and highlight how the support required by breastfeeding women is a public health responsibility.
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