Publications by authors named "Louise Wilson"

Background: Cardiovascular disease (CVD) is the leading cause of mortality in women. We aimed to assess whether adding female-specific risk factors to traditional factors could improve CVD risk prediction.

Methods: We used a cohort of women from the UK Biobank Study aged 45 to 69 years, free of CVD at baseline (2006-2010) followed until the end of 2019.

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Objectives: It is not clear whether the association between younger age at menopause and increased risk of dementia is modified by type of menopause. We examined the association of age at menopause or hysterectomy with dementia risk in three groups of women: those with natural menopause, premenopausal bilateral oophorectomy (surgical menopause) or premenopausal hysterectomy (without bilateral oophorectomy).

Study Design: Individual-level data from 233 802 women in five prospective cohort studies (from four countries) were harmonized and pooled.

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Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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Background: Oesophageal atresia (OA) with or without tracheo-oesophageal fistula (TOF) affects 2.75 per 10,000 births within the UK. It is most frequently suspected on antenatal imaging when the stomach is absent or appears small.

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Introduction: Despite its reach, very limited evidence exists on the effectiveness of real-time video counselling for smoking cessation (e.g. via Skype).

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The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent-child trios, who had previously undergone short-read whole-genome sequencing (Illumina platform) as part of the Genomics England 100,000 Genomes Project. We reanalysed the genomes using both Bionano optical genome mapping (OGM; 8 probands and one trio) and Nanopore long-read sequencing (Oxford Nanopore Technologies [ONT] platform; all samples).

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Article Synopsis
  • This study investigates the role of inversions—structural variants that involve the rearrangement of DNA—in genetic diseases, using data from 33,924 families involved in the 100,000 Genomes Project.
  • Researchers identified 47 ultra-rare rearrangements, including de novo inversions, in genes linked to disease, with analyses correlating genetic findings to clinical outcomes in some cases, including a specific diagnosis for three family members.
  • The findings suggest that while inversions are less common in genetic diseases compared to other structural variants, they can significantly contribute to the etiology in approximately 1 in 750 families with rare conditions.
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The RUNT-related transcription factor RUNX2 plays a critical role in osteoblast differentiation, and alterations to gene dosage cause distinct craniofacial anomalies. Uniquely amongst the RUNT-related family, vertebrate RUNX2 encodes a polyglutamine/polyalanine repeat (Gln-Glu-Ala in humans), with the length of the polyalanine component completely conserved in great apes. Surprisingly, a frequent 6-amino acid deletion polymorphism, p.

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Objectives: To undertake a systematic review to assess the accuracy of fetal MRI in diagnosis of non-CNS congenital anomalies of the fetal body in comparison with antenatal ultrasound when correlated to postnatal diagnosis.

Methods: Searches were conducted from electronic databases, key journals and reference lists for eligible papers. Inclusion criteria was original research studies comparing the diagnostic results of antenatal ultrasound, fetal MRI and final postnatal diagnosis via imaging, surgery or post-mortem testing.

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Objectives: While systems thinking has gained recognition as an important approach in health policy and prevention research, its application in the context of fall prevention among community-dwelling older adults has been underutilised. Here, we build on the guiding principles of the systemic lens component of the Prevention System Change Framework to assess and identify potential changes that are required to facilitate policy action in the field of falls prevention.

Methods: We conducted a desktop search to identify policy documents encompassing falls prevention among community-dwelling older adults in Australia.

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Fragility fractures, resulting from low-energy trauma, occur in approximately 1 in 10 Danish women aged 50 years or older. Bilateral oophorectomy (surgical removal of both ovaries) may increase the risk of fragility fractures due to loss of ovarian sex steroids, particularly estrogen. We investigated the association between bilateral oophorectomy and risk of fragility fracture and whether this was conditional on age at time of bilateral oophorectomy, hormone therapy (HT) use, hysterectomy, physical activity level, body mass index (BMI), or smoking.

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Article Synopsis
  • The rising rates of diabetes among youth have led to over 1 million children diagnosed, highlighting the crucial role of school nurses in managing their diabetes care and related technology.* -
  • Many school nurses lack access to updated education on diabetes care, prompting the development of Diabetes in School Health (DiSH), a program using the Project ECHO model for collaborative learning.* -
  • In its first year, DiSH successfully engaged over 150 school nurses and diabetes experts, with plans for expansion across states and research into its impact on health disparities.*
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Detection dogs are increasingly used to locate cryptic wildlife species, but their use for amphibians is still rather underexplored. In the present paper we focus on the great crested newt (Triturus cristatus), a European species which is experiencing high conservation concerns across its range, and assess the ability of a trained detection dog to locate individuals during their terrestrial phase. More specifically, we used a series of experiments to document whether a range of distances between target newts and the detection dog (odour channelled through pipes 68 mm in diameter) affects the localisation, and to assess the ability and efficiency of target newt detection in simulated subterranean refugia through 200 mm of two common soil types (clay and sandy soil, both with and without air vents to mimic mammal burrows, a common refuge used by T.

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Article Synopsis
  • The study investigates the role of the PRRX1 gene in craniosynostosis, focusing on how certain variants (missense and loss-of-function) affect craniofacial development, with previous research linking PRRX1 to preosteogenic cells in cranial sutures.
  • Researchers used sequencing methods to identify rare variants in PRRX1 among patients suffering from craniosynostosis, discovering a total of 18 individuals with potential pathogenic variants and noting abnormal behavior of mutant proteins through immunofluorescence analyses.
  • The findings highlight that PRRX1 plays a significant role in cranial suture development, and the presence of pathogenic variants is frequently inherited from non-affected relatives,
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Anthropogenic stressors, such as plastics and fishing, are putting coastal habitats under immense pressure. However, sound pollution from small boats has received little attention given the importance of sound in the various life history strategies of many marine animals. By combining passive acoustic monitoring, propagation modelling, and hearing threshold data, the impact of small-boat sound on the listening spaces of four coastal species was determined.

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Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality, over 60 genes are known to be recurrently mutated, thus comprising a long tail of rarer diagnoses. Genome sequencing for the diagnosis of rare diseases is increasingly used in clinical settings, but analysis of the data is labor intensive and involves a trade-off between achieving high sensitivity or high precision.

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Background: Symptoms can be strong drivers for initiating interaction with the health system, especially when they are frequent, severe or impact on daily activities. Research on symptoms often use counts of symptoms as a proxy for symptom burden, however simple counts don't provide information on whether groups of symptoms are likely to occur together or whether such groups are associated with different types and levels of healthcare use. Women have a higher symptom burden than men; however studies of symptom patterns in young women are lacking.

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Objectives: Most studies on factors influencing dental attendance are cross-sectional and focus on specific age groups. The associations between private ancillary health insurance, tobacco smoking, alcohol consumption and overweight/obesity with dental attendance were examined in three cohorts of Australian women of different ages using multiple waves of data over similar time periods.

Methods: Data from 10 233, 12 378 and 7892 women born in 1973-1978, 1946-1951 and 1921-1926 participating in the Australian Longitudinal Study on Women's Health were used.

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Study Question: What is the association between menopausal hormone therapy (MHT) and cause-specific mortality?

Summary Answer: Self-reported MHT use following early natural menopause, surgical menopause or premenopausal hysterectomy is associated with a lower risk of breast cancer mortality and is not consistently associated with the risk of mortality from cardiovascular disease or other causes.

What Is Known Already: Evidence from the Women's Health Initiative randomized controlled trials showed that the use of estrogen alone is not associated with the risk of cardiovascular mortality and is associated with a lower risk of breast cancer mortality, but evidence from the Million Women Study showed that use of estrogen alone is associated with a higher risk of breast cancer mortality.

Study Design, Size, Duration: Cohort study (the UK Biobank), 178 379 women, recruited in 2006-2010.

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We examined relationships between combinations of protective factors (healthy weight, never smoking, and at least moderate levels of physical activity) and moderate or substantial limitations of physical function (PF) versus minimal PF limitations in women who had had a hysterectomy only (n = 1771) or a hysterectomy and bilateral oophorectomy (BO) (n = 738) participating in the Australian Longitudinal Study on Women's Health. We found a dose-response effect that was strongest for substantial PF limitations; for each additional healthy behaviour, for women who had undergone hysterectomy only the relative risk (RR) was 0.62 (95% confidence interval (CI) 0.

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Background: Chlamydia trachomatis is the most frequently notified sexually transmitted infection in Australia. Untreated infections in women can cause health problems. Professional guidelines encourage opportunistic testing of young people.

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Objective: Depression is a leading cause of disability globally and affects more women than men. Ovarian sex steroids are thought to modify depression risk in women and interventions such as bilateral oophorectomy that permanently change the sex steroid milieu may increase the risk of depression. This study aimed to investigate the associations between unilateral and bilateral oophorectomy and depression over a 25-year period (1993-2018) and whether this varied by age at oophorectomy or use of menopausal hormone therapy.

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