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Female fertility is a complex trait with age-specific changes in spontaneous dizygotic (DZ) twinning and fertility. To elucidate factors regulating female fertility and infertility, we conducted a genome-wide association study (GWAS) on mothers of spontaneous DZ twins (MoDZT) versus controls (3273 cases, 24,009 controls). This is a follow-up study to the Australia/New Zealand (ANZ) component of that previously reported (Mbarek et al., 2016), with a sample size almost twice that of the entire discovery sample meta-analysed in the previous article (and five times the ANZ contribution to that), resulting from newly available additional genotyping and representing a significant increase in power. We compare analyses with and without male controls and show unequivocally that it is better to include male controls who have been screened for recent family history, than to use only female controls. Results from the SNP based GWAS identified four genomewide significant signals, including one novel region, ZFPM1 (Zinc Finger Protein, FOG Family Member 1), on chromosome 16. Previous signals near FSHB (Follicle Stimulating Hormone beta subunit) and SMAD3 (SMAD Family Member 3) were also replicated (Mbarek et al., 2016). We also ran the GWAS with a dominance model that identified a further locus ADRB2 on chr 5. These results have been contributed to the International Twinning Genetics Consortium for inclusion in the next GWAS meta-analysis (Mbarek et al., in press).
Organisational priorities for health care focus on efficiency as the health and care needs of populations increase. But evidence suggests that excessive planning can be counterproductive, leading to resistance from staff and patients, particularly those living with cognitive impairment. The current paper adds to this debate reporting an Institutional Ethnography of staff delivering care for older patients with cognitive impairment on acute orthopaedic wards in three National Health Service hospitals in the United Kingdom. A key problematic identified in this study is the point of disjuncture seen between the actualities of staff experience and intentions of protocols and policies. We identified three forms of disjuncture typified as: ‘disruptions’, where sequenced care was interrupted by patient events; ‘discontinuities’, where divisions in professional culture, space or time interrupted sequenced tasks; and ‘dispersions’, where displaced objects or people interrupted sequenced care flow. Arguably disruption is an integral characteristic of care work; it follows that to enable staff to flourish, organisations need to confer staff the autonomy to address systemic disruptions rather than attempt to eradicate them. Ultimately, organisational representations of ‘good practice’ as readily joined up, impose a care standard ‘stereotype’ that obscures rather than clarifies the interactional problems encountered by staff.
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