Objectives:
Anorexia nervosa is a severe psychiatric disorder with high mortality rates. While its aetiology is poorly understood, there is evidence of a significant genetic component. The Anorexia ...Nervosa Genetics Initiative is an international collaboration which aims to understand the genetic basis of the disorder. This paper describes the recruitment and characteristics of the Australasian Anorexia Nervosa Genetics Initiative sample, the largest sample of individuals with anorexia nervosa ever assembled across Australia and New Zealand.
Methods:
Participants completed an online questionnaire based on the Structured Clinical Interview Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV) eating disorders section. Participants who met specified case criteria for lifetime anorexia nervosa were requested to provide a DNA sample for genetic analysis.
Results:
Overall, the study recruited 3414 Australians and 543 New Zealanders meeting the lifetime anorexia nervosa case criteria by using a variety of conventional and social media recruitment methods. At the time of questionnaire completion, 28% had a body mass index ⩽ 18.5 kg/m2. Fasting and exercise were the most commonly employed methods of weight control, and were associated with the youngest reported ages of onset. At the time of the study, 32% of participants meeting lifetime anorexia nervosa case criteria were under the care of a medical practitioner; those with current body mass index < 18.5 kg/m2 were more likely to be currently receiving medical care (56%) than those with current body mass index ⩾ 18.5 kg/m2 (23%). Professional treatment for eating disorders was most likely to have been received from general practitioners (45% of study participants), dietitians (42%) and outpatient programmes (42%).
Conclusions:
This study was effective in assembling the largest community sample of people with lifetime anorexia nervosa in Australia and New Zealand to date. The proportion of people with anorexia nervosa currently receiving medical care, and the most common sources of treatment accessed, indicates the importance of training for general practitioners and dietitians in treating anorexia nervosa.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Smoking prevalence across high-income countries such as the United Kingdom has significantly decreased over the past few decades; this decrease, however, has not occurred uniformly across social ...strata. The highest concentrations of smokers are currently found in lower-income groups. Lack of access to material resources and differing social norms have been cited as possible causes of this imbalance in smoking behaviour. Social capital, measured by trust and levels of community participation, has also been postulated to influence health behaviour.
Data from the British Household Panel Survey were used to identify smoking and non-smoking cohorts at baseline (N = 10,512); from these, individuals whose smoking behaviour had changed (the dependent variable) were identified. Measures of social capital, income, employment and marital status, and considered confounders were tested for associations with changes in smoking behaviour over a 2-year period. Both bivariate and multivariate models were utilized to elicit associations.
Only marital and employment status, along with social capital measures, remained significantly associated with changes in smoking behaviour. Individual/household income, baseline social class and general/psychological health failed to demonstrate any significant association with changes in smoking status.
Support mechanisms (via marriage and employment) and elements social capital (measured by 'trust' and 'social participation') are independently and positively associated with smoking cessation; continual lack of active social participation and remaining single are associated with smoking initiation. Smoking interventions should consider increased participation as an intrinsic part of their design.
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NUK, OILJ, UL, UM, UPUK, VSZLJ
The prevalence of overweight and obesity is growing rapidly in many countries. Education policies might be important for reducing this increase. This paper analyses the causal effect of education on ...the probability of being overweight by using longitudinal data of Australian identical twins. The data include self-reported and clinical measures of body size. Our cross-sectional estimates confirm the well-known negative association between education and the probability of being overweight. For men we find that education also reduces the probability of being overweight within pairs of identical twins. The estimated effect of education on overweight status increases with age. Remarkably, for women we find no negative effect of education on body size when fixed family effects are taken into account. Identical twin sisters who differ in educational attainment do not systematically differ in body size. Peer effects within pairs of identical twin sisters might play a role.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Genome-wide association (GWA) studies to map genes for complex traits are powerful yet costly. DNA-pooling strategies have the potential to dramatically reduce the cost of GWA studies. Pooling using ...Affymetrix arrays has been proposed and used but the efficiency of these arrays has not been quantified. We compared and contrasted Affymetrix Genechip HindIII and Illumina HumanHap300 arrays on the same DNA pools and showed that the HumanHap300 arrays are substantially more efficient. In terms of effective sample size, HumanHap300-based pooling extracts >80% of the information available with individual genotyping (IG). In contrast, Genechip HindIII-based pooling only extracts ∼30% of the available information. With HumanHap300 arrays concordance with IG data is excellent. Guidance is given on best study design and it is shown that even after taking into account pooling error, one stage scans can be performed for >100-fold reduced cost compared with IG. With appropriately designed two stage studies, IG can provide confirmation of pooling results whilst still providing ∼20-fold reduction in total cost compared with IG-based alternatives. The large cost savings with Illumina HumanHap300-based pooling imply that future studies need only be limited by the availability of samples and not cost.
Introduction
Haemophilia A care has changed with the introduction of emicizumab. Experience on the youngest children is still scarce and clinical practice varies between haemophilia treatment ...centres.
Aim
We aimed to assess the current clinical practice on emicizumab prophylaxis within PedNet, a collaborative research platform for paediatricians treating children with haemophilia.
Methods
An electronic survey was sent to all PedNet members (n = 32) between October 2022 and February 2023. The survey included questions on the availability of emicizumab, on the practice of initiating prophylaxis in previously untreated or minimally treated patients (PUPs or MTPs) and emicizumab use in patients with or without inhibitors.
Results
All but four centres (28/32; 88%) responded. Emicizumab was available in clinical practice in 25/28 centres (89%), and in 3/28 for selected patients only (e.g. with inhibitors). Emicizumab was the preferred choice for prophylaxis in PUPs or MTPs in 20/25 centres; most (85%) started emicizumab prophylaxis before 1 year of age (30% before 6 months of age) and without concomitant FVIII (16/20; 80%). After the loading dose, 13/28 centres administered the recommended dosing, while the others adjusted the interval of injections to give whole vials. In inhibitor patients, the use of emicizumab during ITI was common, with low‐dose ITI being the preferred protocol.
Conclusion
Most centres choose to initiate prophylaxis with emicizumab before 12 months of age and without concomitant FVIII. In inhibitor patients, ITI is mostly given in addition to emicizumab, but there was no common practice on how to proceed after successful ITI.
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DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
Retrospective data on age at onset of smoking, reported by 3810 adult Australian twin pairs, were analyzed to determine the role of genetic and environmental factors in the onset of smoking. Results ...of nonmetric multidimensional scaling supported a two-process model in which different etiologic factors determined which individuals were at risk of becoming smokers and the age at onset of smoking in those who were at risk. Parametric model-fitting confirmed this difference. For female twins and younger male twins (aged 30 years or less), the onset of smoking was strongly influenced by genetic factors, with shared and nonshared environmental effects having a more modest impact. For older male twins, shared environmental influences on onset of smoking were very important, and the influence of genetic predisposition was slight. The age at which smoking onset occurred, however, was influenced by both genetic and nonshared environmental effects, but not by shared environmental effects, in both sexes and both cohorts.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OBVAL, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UILJ, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
IntroductionFractional flow reserve is an established method for assessing coronary artery stenosis severity. However, long-term outcome data in a real-world population is lacking.AimsWe aim to ...determine whether FFR use is superior to angiography alone in relation to cardiac death and all-cause death in a real-world population.MethodsPatients undergoing angiography between June-2017 and June-2018 recorded by the Centre-for-Health-Record-Linkage (CHeReL) were included. The CHeReL database captures health data from ≥97% of all healthcare facilities in the state of New South Wales, with a population of 7.5 million people. The cohort was stratified into angiography-FFR group when concomitant FFR was performed, and the angiography-only group which included all patients undergoing angiography without concomitant FFR. The primary and secondary outcomes were cardiac death and all-cause death respectively.ResultsThe study cohort comprised 34,597 patients, in which 32,863 (95%) patients underwent angiography alone and 1,734 (5%) patients had angiography combined with FFR. At 1-year follow-up, the angiography-FFR group had a lower occurrence of the endpoints of cardiac death (0.8% vs 2.3%, P<0.001) and all-cause death (1.7% vs 4.7%, P<0.001) compared to the angiography-only group. Multivariable Cox regression analysis showed FFR use to be associated with lower rates of both cardiac death (hazard ratio HR 0.55, 95% confidence interval CI 0.32-0.93, P=0.025) and all-cause death (HR 0.55, 95% CI 0.38-0.79, P=0.001) independent of age, sex, facility, country of birth, referral source, marital status, Charlson comorbidity index, valvular heart disease, pre-existing atrial fibrillation (AF), presenting illnesses including AF, congestive heart failure or acute coronary syndrome, planned percutaneous coronary intervention or coronary artery bypass graft surgery, and concomitant or subsequent cardiac valve surgery.ConclusionsFFR use was associated with a reduction in both cardiac death and all-cause death in this real-world study.
Genetic variants associated with disordered eating Wade, Tracey D.; Gordon, Scott; Medland, Sarah ...
The International journal of eating disorders,
September 2013, Volume:
46, Issue:
6
Journal Article
Triple-negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. ...Commonly inherited breast cancer risk factors identified through genome-wide association studies display heterogeneity of effect among breast cancer subtypes as defined by the status of estrogen and progesterone receptors. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple-negative breast cancer and 4,978 healthy controls. We identified six single-nucleotide polymorphisms, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.1), and rs8100241 (19p13.1), significantly associated with the risk of triple-negative breast cancer. Together, our results provide convincing evidence of genetic susceptibility for triple-negative breast cancer.
Taxa are nonarbitrary classes whose existence is an empirical question and not a matter of mere semantic convenience. Taxometric procedures detect whether numerical relations between purported ...indicators of conjectured taxa bear the hallmarks of true taxa. On the basis of theoretical considerations, the current study tested whether taxa underlie sexual orientation and related measures of gender identity. Two taxometric procedures, maximum covariance, making hits maximum (MAXCOV) and mean above minus below a cut (MAMBAC), were applied to Kinsey Scales and measures of childhood gender nonconformity and adult gender identity in a sample of nearly 5,000 members of the Australian Twin Registry. Results suggest that latent taxa underlie these measures. About 12-15% of men and 5-10% of women belong to latent taxa associated with homosexual preference. These percentages are greater than those of individuals who report homosexual preference, however, and hence it appears that an appreciable proportion of individuals in these taxa have heterosexual preference. An understanding of the origins of these latent taxa may be important to understanding the development of sexual orientation and gender identity.
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CEKLJ, FFLJ, NUK, ODKLJ, PEFLJ, UPUK
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