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1.
Am J Hum Genet ; 108(7): 1190-1203, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34146516

RESUMO

A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. We used publicly available in silico DNase I and ChIP-seq data with in vitro reporter gene and CRISPR assays to annotate signals 2 and 3. We identified putative regulatory elements that enhanced cell-type-specific transcription from the IGFBP5 promoter at both signals (30- to 40-fold increased expression by the putative regulatory element at signal 2, 2- to 3-fold by the putative regulatory element at signal 3). We further identified one of the five credible causal variants at signal 2, a 1.4 kb deletion (esv3594306), as the likely causal variant; the deletion allele of this variant was associated with an average additional increase in IGFBP5 expression of 1.3-fold (MCF-7) and 2.2-fold (T-47D). We propose a model in which the deletion allele of esv3594306 juxtaposes two transcription factor binding regions (annotated by estrogen receptor alpha ChIP-seq peaks) to generate a single extended regulatory element. This regulatory element increases cell-type-specific expression of the tumor suppressor gene IGFBP5 and, thereby, reduces risk of estrogen receptor-positive breast cancer (odds ratio = 0.77, 95% CI 0.74-0.81, p = 3.1 × 10-31).


Assuntos
Proteína 5 de Ligação a Fator de Crescimento Semelhante à Insulina/genética , Anotação de Sequência Molecular , Regiões Promotoras Genéticas , Neoplasias da Mama/genética , Sistemas CRISPR-Cas , Linhagem Celular , Mapeamento Cromossômico , Cromossomos Humanos Par 2 , Feminino , Estudos de Associação Genética , Variação Genética , Humanos , Fatores de Risco , Deleção de Sequência
2.
Int J Eat Disord ; 57(2): 423-436, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38149436

RESUMO

OBJECTIVE: To investigate the acceptability, feasibility, and preliminary effectiveness of "SupportED," a novel, online, self-paced skills-based program for carers/support people of those with lived and/or living experience of an eating disorder (ED). METHOD: Carers of a loved one with an ED were invited to undertake a five-module skills-based (one core module, four optional modules) online program at their own pace. Modules cover general information about EDs, communication, practical skills, treatment engagement, and recovery. Participants completed demographics and were assessed using EDSIS, CASK, and DASS-21 for caregiver burden, skills, and distress, respectively, at program completion and 3-month follow-up. Feedback on the program and modules was also collected. RESULTS: Most carers (65%; 82/126) completed the core module of the program, which is on par with other online learning programs. Nearly half of program completers responded to the 3-month follow-up (n = 39). On average, carers rated the program as relevant and useful and found the information validating and easy to understand, albeit a few carers found the program time-consuming and technically challenging. Intent-to-treat (ITT) linear mixed models demonstrated the preliminary effectiveness of the program for improving carer burden and skills, although the change in carer distress was non-significant. CONCLUSIONS: Results of this case series evaluation suggest SupportED is an acceptable and feasible program for carers and may improve burden and support skill development. Although the online, self-paced format was highly rated, small improvements to improve acceptability were suggested. Reasons for a lack of impact on carer distress are discussed. PUBLIC SIGNIFICANCE: This article describes a case series evaluation of "SupportED," an online skills-based support program for families, carers, and supporters of people with lived experience of an eating disorder. This is the first online carer support program that is designed to be inclusive of all carer types (e.g., partners, siblings) for all eating disorder presentations. Findings suggest the program's suitability and helpfulness for reducing carers' load and bolstering skills and knowledge.


Assuntos
Cuidadores , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Comportamentos Relacionados com a Saúde , Inquéritos e Questionários , Intenção
3.
Eur Eat Disord Rev ; 32(3): 458-475, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38100163

RESUMO

OBJECTIVE: Carers, vital in the care of individuals with an eating disorder (ED), experience substantial caregiving burden and unmet needs. This study aims to identify factors which contribute to the burden experienced by carers of a loved one with an ED and their support service usage. METHOD: Carers (N = 245) completed an online questionnaire assessing demographic, carer-specific, individual and ED factors. Multivariate relationships with caregiving burden were examined using forwards elimination to produce a parsimonious model of carer burden. RESULTS: The final model, consisting of caregiving factors (e.g., relationship type, skills), carer mental health) and loved one wellbeing (i.e., purging symptoms, depression/self-harm/suicidality) explained a large proportion (62%) of the variance in carers' burden. Carer mental health, caregiving skills and relationship type (e.g., parent, spouse, sibling) were key predictors of carers' burden. Nearly a third of carers had not used any carer support services, yet most carers expressed an interest in such services. CONCLUSION: Caregiving burden is determined by experiences and skills of the carer as well as the person they are caring for. Carer support services should continue to address the general wellbeing of carers and caregiver skills. Research into the barriers to carer support uptake is needed.


Assuntos
Cuidadores , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Cuidadores/psicologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Pais , Saúde Mental
4.
Eur Eat Disord Rev ; 32(4): 687-699, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38416595

RESUMO

BACKGROUND: Over two-thirds of people present to their primary care physician (or general practitioner; GP) as a first point of contact for mental health concerns. However, eating disorders (EDs) are often not identified in a primary care setting. A significant barrier to early detection and intervention is lack of primary care physician training in EDs; compounded by the significant time commitments required for training by already time-poor general practitioners. The aim of the current study was to pilot and evaluate a microlearning programme that can be delivered to general practitioners with high workloads to help support patients with, or at risk of, developing an ED. METHODS: Fifty-one Australian general practitioners aged between 25-to-60 years old were recruited. Participants completed a baseline questionnaire to ascertain their experience working in general practice and with EDs. Participants then completed an online programme consisting of a series of 10 case studies (vignettes) delivered over a 6-10 week period related to various facets of ED care. Following conclusion of the programme, participants were asked to complete an evaluative questionnaire related to the content of the programme; perceived knowledge, confidence, willingness-to-treat, skill change; and their overall experience of microlearning. RESULTS: All 51 GPs completed the programme and reached completion criteria for all vignettes, 40 of whom completed the programme evaluation. Participants indicated improved skill, confidence, willingness-to-treat, and knowledge following the completion of the pilot programme. Almost all (97.5%; n = 39) found microlearning to be an effective method to learn about EDs; with 87.5% (n = 35) of participants reporting they felt able to apply what was learnt in practice. Qualitative feedback highlighted the benefit of microlearning's flexibility to train general practitioners to work with complex health presentations, specifically EDs. CONCLUSIONS: Findings from the current study lend support to the use of microlearning in medical health professional training; notably around complex mental health concerns. Microlearning appears to be an acceptable and effective training method for GPs to learn about EDs. Given the significant time demands on GPs and the resulting challenges in designing appropriate training for this part of the workforce, this training method has promise. The pre-existing interest in EDs in the current study sample was high; future studies should sample more broadly to ensure that microlearning can be applied at scale.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Projetos Piloto , Adulto , Pessoa de Meia-Idade , Feminino , Masculino , Inquéritos e Questionários , Médicos de Atenção Primária/educação , Austrália , Educação Médica Continuada/métodos , Competência Clínica , Atenção Primária à Saúde
5.
Psychol Med ; 53(6): 2619-2633, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-35379376

RESUMO

BACKGROUND: Anorexia nervosa (AN) is a psychiatric disorder with complex etiology, with a significant portion of disease risk imparted by genetics. Traditional genome-wide association studies (GWAS) produce principal evidence for the association of genetic variants with disease. Transcriptomic imputation (TI) allows for the translation of those variants into regulatory mechanisms, which can then be used to assess the functional outcome of genetically regulated gene expression (GReX) in a broader setting through the use of phenome-wide association studies (pheWASs) in large and diverse clinical biobank populations with electronic health record phenotypes. METHODS: Here, we applied TI using S-PrediXcan to translate the most recent PGC-ED AN GWAS findings into AN-GReX. For significant genes, we imputed AN-GReX in the Mount Sinai BioMe™ Biobank and performed pheWASs on over 2000 outcomes to test the clinical consequences of aberrant expression of these genes. We performed a secondary analysis to assess the impact of body mass index (BMI) and sex on AN-GReX clinical associations. RESULTS: Our S-PrediXcan analysis identified 53 genes associated with AN, including what is, to our knowledge, the first-genetic association of AN with the major histocompatibility complex. AN-GReX was associated with autoimmune, metabolic, and gastrointestinal diagnoses in our biobank cohort, as well as measures of cholesterol, medications, substance use, and pain. Additionally, our analyses showed moderation of AN-GReX associations with measures of cholesterol and substance use by BMI, and moderation of AN-GReX associations with celiac disease by sex. CONCLUSIONS: Our BMI-stratified results provide potential avenues of functional mechanism for AN-genes to investigate further.


Assuntos
Anorexia Nervosa , Estudo de Associação Genômica Ampla , Humanos , Anorexia Nervosa/genética , Polimorfismo de Nucleotídeo Único , Fenótipo , Transcriptoma , Predisposição Genética para Doença/genética
6.
Int J Eat Disord ; 56(5): 914-924, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36694273

RESUMO

In adolescents and adults, the co-occurrence of eating disorders and overweight or obesity is continuing to increase, and the prevalence of eating disorders is higher in people with higher weight compared to those with lower weight. People with an eating disorder with higher weight are more likely to present for weight loss than for eating disorder treatment. However, there are no clinical practice guidelines on how to screen, assess, and monitor eating disorder risk in the context of obesity treatment. In this article, we first summarize current challenges and knowledge gaps related to the identification and assessment of eating disorder risk and symptoms in people with higher weight seeking obesity treatment. Specifically, we discuss considerations relating to the validation of current self-report measures, dietary restraint, body dissatisfaction, binge eating, and how change in eating disorder risk can be measured in this setting. Second, we propose avenues for further research to guide the development and implementation of clinical and research protocols for the identification and assessment of eating disorders in people with higher weight in the context of obesity treatment. PUBLIC SIGNIFICANCE: The number of people with both eating disorders and higher weight is increasing. Currently, there is little guidance for clinicians and researchers about how to identify and monitor risk of eating disorders in people with higher weight. We present limitations of current research and suggest future avenues for research to enhance care for people living with higher weight with eating disorders.


Assuntos
Transtorno da Compulsão Alimentar , Bulimia , Transtornos da Alimentação e da Ingestão de Alimentos , Adulto , Adolescente , Humanos , Obesidade/terapia , Sobrepeso , Redução de Peso , Transtorno da Compulsão Alimentar/terapia
7.
Nutr Res Rev ; : 1-11, 2023 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-36788665

RESUMO

The cornerstone of obesity treatment is behavioural weight management, resulting in significant improvements in cardio-metabolic and psychosocial health. However, there is ongoing concern that dietary interventions used for weight management may precipitate the development of eating disorders. Systematic reviews demonstrate that, while for most participants medically supervised obesity treatment improves risk scores related to eating disorders, a subset of people who undergo obesity treatment may have poor outcomes for eating disorders. This review summarises the background and rationale for the formation of the Eating Disorders In weight-related Therapy (EDIT) Collaboration. The EDIT Collaboration will explore the complex risk factor interactions that precede changes to eating disorder risk following weight management. In this review, we also outline the programme of work and design of studies for the EDIT Collaboration, including expected knowledge gains. The EDIT studies explore risk factors and the interactions between them using individual-level data from international weight management trials. Combining all available data on eating disorder risk from weight management trials will allow sufficient sample size to interrogate our hypothesis: that individuals undertaking weight management interventions will vary in their eating disorder risk profile, on the basis of personal characteristics and intervention strategies available to them. The collaboration includes the integration of health consumers in project development and translation. An important knowledge gain from this project is a comprehensive understanding of the impact of weight management interventions on eating disorder risk.

8.
Aust N Z J Psychiatry ; 57(9): 1281-1291, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36196038

RESUMO

OBJECTIVES: People with eating disorders, as well as their caregivers, experience high symptom burden, reduced quality of life and increased risk of early mortality. A lack of resources, disjointed vision and limited uptake of the evidence have limited the translation and implementation of research into practice. Little is known about what stakeholders (people with a lived experience, caregivers, health care professionals, researchers and policymakers) see as the most important research priorities. This study aimed to identify Australia's top 10 consensus-derived research and translation priorities for eating disorders. METHODS: Participants (n = 606) included people with a lived experience, carers, health care professionals (clinicians) and researchers working in eating disorders. The methodology aligned with the James Lind Alliance priority setting process, which involved oversight by a co-design advisory committee and utilised a national online interim priority setting survey and co-design workshops to identify the top 10 research and translation priorities. RESULTS: The initial national consultations elicited 1210 issues from 480 individuals. From this, 606 participants shortlisted 59 plain language questions in order of personal priority. In total, 16 questions were consistently ranked as important. As a final step, 24 individuals (with equal representation from all 4 stakeholder groups) attended the final prioritisation workshop to co-establish the top 10 research and translation priorities. CONCLUSION: The findings highlight the need for people with a lived experience, carers, health professionals and researchers to work collaboratively to develop co-designed research and translation activities that address the key areas of early intervention, prevention, understanding the aetiology of eating disorders and effective treatment of people experiencing eating disorders.


Assuntos
Pesquisa Biomédica , Qualidade de Vida , Humanos , Prioridades em Saúde , Cuidadores , Pessoal de Saúde , Inquéritos e Questionários , Austrália
9.
Eur Eat Disord Rev ; 31(6): 737-751, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37337333

RESUMO

OBJECTIVE: Few studies have recruited adults with a formal diagnosis of muscle dysmorphia (MD), a psychological illness defined by preoccupation that one lacks muscularity and/or leanness, combined with significant functional impairment. This study presented descriptive statistics for a range of clinically relevant questionnaires in one of the largest samples of adults with confirmed diagnoses of MD. METHOD: We recruited 29 adults who met diagnostic criteria for MD as determined by semi-structured diagnostic interviews and administered a battery of questionnaires assessing MD symptomology, compulsive exercise, and disordered eating. Descriptive statistics were calculated for both total and subscale scores for each questionnaire. Raincloud plots are included to show the distribution of total scores. RESULTS: Of the 29 participants, 26 completed all questionnaires. Mean scores were high across all questionnaires and broadly consistent with results in past studies that also recruited a clinical MD sample. Most participants scored above proposed clinical cut-off scores for questionnaires assessing compulsive exercise and disordered eating. CONCLUSIONS: This study adds to the small body of published questionnaire data in clinical MD samples. We stress that questionnaire scores should not be used alone to infer the presence of MD, but could be considered as a useful adjunct to a comprehensive clinical interview.


Assuntos
Transtornos Dismórficos Corporais , Transtornos da Alimentação e da Ingestão de Alimentos , Humanos , Adulto , Transtornos Dismórficos Corporais/diagnóstico , Transtornos Dismórficos Corporais/psicologia , Imagem Corporal/psicologia , Inquéritos e Questionários , Músculos , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico
10.
Australas Psychiatry ; 31(3): 346-348, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36853994

RESUMO

OBJECTIVE: Eating disorders (EDs) have their onset most frequently in adolescence and young adulthood. Treatment for EDs lack efficacy, and we have made little progress in improving outcomes for patients over the course of the last several decades. As with other mental health conditions, early intervention may greatly improve outcomes, yet, little research exists in this area. CONCLUSIONS: More effective evidence-based treatments are sorely needed for EDs, particularly for early stages of the illness to minimise the potential harms of treatment and long-standing illness. Treatment service models would also benefit from taking an approach that ensures continuation of care from adolescence to young adulthood.


Assuntos
Anorexia Nervosa , Transtornos da Alimentação e da Ingestão de Alimentos , Adolescente , Humanos , Adulto Jovem , Adulto , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Resultado do Tratamento , Anorexia Nervosa/terapia
11.
Gut ; 71(12): 2502-2517, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35477539

RESUMO

OBJECTIVE: Stroma-rich tumours represent a poor prognostic subtype in stage II/III colon cancer (CC), with high relapse rates and limited response to standard adjuvant chemotherapy. DESIGN: To address the lack of efficacious therapeutic options for patients with stroma-rich CC, we stratified our human tumour cohorts according to stromal content, enabling identification of the biology underpinning relapse and potential therapeutic vulnerabilities specifically within stroma-rich tumours that could be exploited clinically. Following human tumour-based discovery and independent clinical validation, we use a series of in vitro and stroma-rich in vivo models to test and validate the therapeutic potential of elevating the biology associated with reduced relapse in human tumours. RESULTS: By performing our analyses specifically within the stroma-rich/high-fibroblast (HiFi) subtype of CC, we identify and validate the clinical value of a HiFi-specific prognostic signature (HPS), which stratifies tumours based on STAT1-related signalling (High-HPS v Low-HPS=HR 0.093, CI 0.019 to 0.466). Using in silico, in vitro and in vivo models, we demonstrate that the HPS is associated with antigen processing and presentation within discrete immune lineages in stroma-rich CC, downstream of double-stranded RNA and viral response signalling. Treatment with the TLR3 agonist poly(I:C) elevated the HPS signalling and antigen processing phenotype across in vitro and in vivo models. In an in vivo model of stroma-rich CC, poly(I:C) treatment significantly increased systemic cytotoxic T cell activity (p<0.05) and reduced liver metastases (p<0.0002). CONCLUSION: This study reveals new biological insight that offers a novel therapeutic option to reduce relapse rates in patients with the worst prognosis CC.


Assuntos
Biomarcadores Tumorais , Neoplasias do Colo , Humanos , Biomarcadores Tumorais/genética , Células Estromais/patologia , Recidiva Local de Neoplasia/prevenção & controle , Recidiva Local de Neoplasia/patologia , Neoplasias do Colo/patologia , Prognóstico
12.
Int J Eat Disord ; 55(11): 1614-1620, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35986579

RESUMO

OBJECTIVE: For those with binge-eating disorder (BED), access to evidence-based, face-to-face treatment is often constrained by clinician availability and high treatment costs. Emerging evidence suggests online therapy (eTherapy) may navigate these barriers and reduce binge-eating symptomatology; however, less evaluation has been done in those with BED, particularly with briefer programs targeting early change. This study investigated the feasibility and potential efficacy of a brief, supported eTherapy in those with BED or subthreshold BED. METHOD: Participants were 19 women with BED who completed a four-session eTherapy. This was a single-arm, pre-post intervention study, with participants completing weekly content and attending telehealth sessions. Key outcomes were assessed by the Eating Disorder Examination Questionnaire-Short (EDE-QS): objective binge episode days, loss of control over eating days, and eating disorder (ED) psychopathology via a total EDE-QS score. RESULTS: Generalized and linear mixed models showed significantly reduced loss of control over eating days and ED psychopathology. Program feasibility was high, with strong program adherence and a below average attrition rate. DISCUSSION: Pilot results support the feasibility and potential efficacy of a brief, behavioral-focused eTherapy program in reducing ED pathology in those with BED. Future research should further investigate findings in an adequately powered randomized controlled trial. PUBLIC SIGNIFICANCE: This study suggests that a brief, behavioral-focused online therapy, guided by non-expert clinicians, can be successfully administered to those with binge-eating disorder (BED) and may be efficacious at reducing eating disorder and other related symptomatology. Brief eTherapies that are effective, accessible, and rapidly available may facilitate earlier intervention in illness and improve treatment outcomes for individuals who experience this common and distressing disorder.


Assuntos
Transtorno da Compulsão Alimentar , Terapia Cognitivo-Comportamental , Feminino , Humanos , Transtorno da Compulsão Alimentar/diagnóstico , Transtorno da Compulsão Alimentar/terapia , Projetos Piloto , Estudos de Viabilidade , Terapia Cognitivo-Comportamental/métodos , Resultado do Tratamento
13.
BMC Public Health ; 22(1): 1805, 2022 09 23.
Artigo em Inglês | MEDLINE | ID: mdl-36138375

RESUMO

BACKGROUND: Adolescence presents a window of opportunity to establish good nutrition and physical activity behaviours to carry throughout the life course. Adolescents are at risk of developing cardiovascular and other chronic diseases due to poor the complex interplay of physical and mental health lifestyle risk factors. Text messaging is adolescents main form of everyday communication and text message programs offer a potential solution for support and improvement of lifestyle health behaviours. The primary aim of this study is to determine effectiveness of the Health4Me text message program to improve adolescent's physical activity or nutrition behaviours among adolescents over 6-months, compared to usual care. METHODS: Health4Me is a virtual, two-arm, single-blind randomised controlled trial, delivering a 6-month healthy lifestyle text message program with optional health counselling. Recruitment will be through digital advertising and primary care services. In total, 330 adolescents will be randomised 1:1 to intervention or control (usual care) groups. The intervention group will receive 4-5 text messages per week for 6-months. All text messages have been co-designed with adolescents. Messages promote a healthy lifestyle by providing practical information, health tips, motivation and support for behaviour change for physical activity, nutrition, mental health, body image, popular digital media and climate and planetary health. Virtual assessments will occur at baseline and 6-months assessing physical health (physical activity, nutrition, body mass index, sleep), mental health (quality of life, self-efficacy, psychological distress, anxiety, depression, eating disorder risk) and lifestyle outcomes (food insecurity and eHealth literacy). DISCUSSION: This study will determine the effectiveness of a 6-month healthy lifestyle text message intervention to improve physical activity and nutrition outcomes in adolescents. TRIAL REGISTRATION: Australia New Zealand Clinical Trials Registry (ANZCTR) ACTRN12622000949785 , Date registered: 05/07/2022.


Assuntos
Envio de Mensagens de Texto , Adolescente , Estilo de Vida Saudável , Humanos , Internet , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Método Simples-Cego
14.
Rural Remote Health ; 22(2): 6767, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35473306

RESUMO

INTRODUCTION: Declining house-call rates have been documented worldwide; however, up-to-date data on current rates are lacking, particularly in rural settings. Systematic reviews in this area are inconsistent; however, other work, principally qualitative research, demonstrates benefits for both doctors and patients. The aim of this study was to establish the current rate of, and reasons for, home visits in a rural general practice setting. METHODS: This was a descriptive observational study in the north-west of Ireland. Fourteen general practice training practices with approximately 30 000 patients were recruited. Data on house calls done in each practice were collected during May and June 2019. Anonymised data were analysed using Microsoft Excel and GraphPad. RESULTS: Data were received on 547 house calls. The rate of house calls done within normal working hours (443) was calculated at 87 house calls/1000 patients/year (raw proportion 1.44%). Using the N-1 χ2 test, this rate was compared to that calculated in a similar 2009 study (143/1000/year; raw proportion 2.43%), giving a difference of 0.991% (95% confidence interval 0.759-1.22%; p<0.001). This is a statistically significant reduction of 40% over 10 years. Most (86.2%) house calls were to patients aged over 65 years. House calls were commonly done for respiratory infection (17%), other infections (12%), palliative care (11%) and pain (11%). Most patients were managed solely within the community (88.3%), with 45.8% of those requiring a prescription, and only 11.7% of house calls being referred to hospital. CONCLUSION: There are documented benefits to home visits and yet the rate of house calls has been declining worldwide. With no recent literature on the rate or reasons for home visits in rural general practice, this research has demonstrated that the house call rate in the north-west of Ireland is falling, mirroring the decline seen in other parts of Europe, Australia and the USA. These house calls are mainly for elderly patients to address infection or palliative care, and the majority can be managed successfully by general practitioners in the community. With an ageing population with increasing multi-morbidity, planning for care delivery to these patients is important for clinicians going forward. We now need to decide if house calls are a service worth saving.


Assuntos
Visita Domiciliar , Infecções Respiratórias , Idoso , Austrália , Medicina de Família e Comunidade , Humanos , Irlanda
15.
Am J Med Genet B Neuropsychiatr Genet ; 189(5): 163-173, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35785430

RESUMO

We present innovative research practices in psychiatric genetic studies to ensure representation of individuals from diverse ancestry, sex assigned at birth, gender identity, age, body shape and size, and socioeconomic backgrounds. Due to histories of inappropriate and harmful practices against marginalized groups in both psychiatry and genetics, people of certain identities may be hesitant to participate in research studies. Yet their participation is essential to ensure diverse representation, as it is incorrect to assume that the same genetic and environmental factors influence the risk for various psychiatric disorders across all demographic groups. We present approaches developed as part of the Eating Disorders Genetics Initiative (EDGI), a study that required tailored approaches to recruit diverse populations across many countries. Considerations include research priorities and design, recruitment and study branding, transparency, and community investment and ownership. Ensuring representation in participants is costly and funders need to provide adequate support to achieve diversity in recruitment in prime awards, not just as supplemental afterthoughts. The need for diverse samples in genetic studies is critical to minimize the risk of perpetuating health disparities in psychiatry and other health research. Although the EDGI strategies were designed specifically to attract and enroll individuals with eating disorders, our approach is broadly applicable across psychiatry and other fields.


Assuntos
Identidade de Gênero , Pesquisa , Feminino , Humanos , Recém-Nascido , Masculino
16.
Br J Cancer ; 124(4): 842-854, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33495599

RESUMO

BACKGROUND: Epidemiological studies provide strong evidence for a role of endogenous sex hormones in the aetiology of breast cancer. The aim of this analysis was to identify genetic variants that are associated with urinary sex-hormone levels and breast cancer risk. METHODS: We carried out a genome-wide association study of urinary oestrone-3-glucuronide and pregnanediol-3-glucuronide levels in 560 premenopausal women, with additional analysis of progesterone levels in 298 premenopausal women. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. All women were of European ancestry. RESULTS: For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. The minor rs45446698-C allele was associated with lower oestrone-3-glucuronide (-49.2%, 95% CI -56.1% to -41.1%, P = 3.1 × 10-18); in follow-up analyses, rs45446698-C was also associated with lower progesterone (-26.7%, 95% CI -39.4% to -11.6%, P = 0.001) and reduced risk of oestrogen and progesterone receptor-positive breast cancer (OR = 0.86, 95% CI 0.82-0.91, P = 6.9 × 10-8). CONCLUSIONS: The CYP3A7*1C allele is associated with reduced risk of hormone receptor-positive breast cancer possibly mediated via an effect on the metabolism of endogenous sex hormones in premenopausal women.


Assuntos
Neoplasias da Mama/genética , Citocromo P-450 CYP3A/genética , Estrona/análogos & derivados , Pregnanodiol/análogos & derivados , Progesterona/urina , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , Alelos , Neoplasias da Mama/enzimologia , Neoplasias da Mama/urina , Estudos de Casos e Controles , Citocromo P-450 CYP3A/metabolismo , Estrona/genética , Estrona/urina , Feminino , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo de Nucleotídeo Único , Pregnanodiol/genética , Pregnanodiol/urina , Pré-Menopausa
17.
Chem Senses ; 462021 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-33885760

RESUMO

As vectors of disease, mosquitoes are a global threat to human health. The Anopheles mosquito is the deadliest mosquito species as the insect vector of the malaria-causing parasite, which kills hundreds of thousands every year. These mosquitoes are reliant on their sense of smell (olfaction) to guide most of their behaviors, and a better understanding of Anopheles olfaction identifies opportunities for reducing the spread of malaria. This review takes a detailed look at Anopheles olfaction. We explore a range of topics from chemosensory receptors, olfactory neurons, and sensory appendages to behaviors guided by olfaction (including host-seeking, foraging, oviposition, and mating), to vector management strategies that target mosquito olfaction. We identify many research areas that remain to be addressed.


Assuntos
Anopheles/fisiologia , Comportamento Animal/fisiologia , Olfato/fisiologia , Animais , Neurônios Receptores Olfatórios/metabolismo , Receptores Odorantes/metabolismo
18.
Int J Eat Disord ; 54(3): 409-421, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33191499

RESUMO

OBJECTIVE: This study examined factors related to hospital length of stay (LOS), reported referral on discharge, and hospital readmission, for children and adolescents (C&A) admitted to public hospitals for anorexia nervosa (AN), in a large health jurisdiction in Australia. METHOD: Sociodemographic, illness, treatment, and hospital factors associated with LOS, reported referral to post-hospital treatment, and readmission within 28 days were analyzed for C&A with AN admitted to all New South Wales public hospitals in 2017, using median, multinomial logit and logit models. The sample comprised 289 admissions by 200 C&A aged 9-18 years with a primary or secondary diagnosis of AN. RESULTS: AN as a primary diagnosis and the presence of some physical and mental co-occurring conditions (e.g., malnutrition and obsessive-compulsive disorders) conferred a longer LOS. The majority of admissions were recorded being referred to primary care physicians (59.86%) and relatively small numbers to outpatient mental health services (5.54%) or outpatient eating disorder services (8.30%), with age, area socioeconomic status, and illness factors related to referral type. Male, low socioeconomic status, the presence of some co-occurring illnesses (e.g., adjustment disorder and viral infection), and rural or remote locations increased the likelihood of readmission. DISCUSSION: The findings have implications for service design, in particular the pathway to care from hospital into community for AN. Targeted interventions should consider recognizing and treating physical co-occurring illnesses at presentation to the health system, ensuring appropriate referral to community services, and providing services in socioeconomically disadvantaged and rural or remote areas.


Assuntos
Anorexia Nervosa , Readmissão do Paciente , Adolescente , Anorexia Nervosa/epidemiologia , Anorexia Nervosa/terapia , Criança , Humanos , Tempo de Internação , Masculino , Alta do Paciente , Encaminhamento e Consulta
19.
Aust N Z J Psychiatry ; 55(11): 1089-1100, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33722071

RESUMO

OBJECTIVE: Primary care practitioners are well placed to support diagnosis and appropriate treatment of eating disorders as they are often the first point of contact with the health care system. However, little is known about management of eating disorders in primary care. We aimed to estimate the prevalence of management of eating disorders in primary care and identify how these disorders are managed. METHODS: This study used data from the Bettering the Evaluation of Care of Health programme, which annually surveys 1000 randomly sampled general practitioners in Australia who each record details of 100 successive patient encounters. In total, data were utilised from 1,568,100 primary care encounters between 2000/2001 and 2015/2016. RESULTS: Eating disorders were managed in less than 1% of primary care encounters between 2000/2001 and 2015/2016. When extrapolated to the Australian population, up to 0.32% of the population were managed in primary care for a primary or probable eating disorder. In the majority of encounters where an eating disorder was managed (58.5%), the encounter was initiated for reasons other than the eating disorder itself. Of a group of patients identified with a clinically significant low body mass index (N = 5917), a small number (n = 118) had either no other diagnosis or a related condition that may be indicative of an eating disorder. In encounters where an eating disorder was managed, referrals to a mental health specialist/service, medical specialist and nutritionist/dietician were provided in 20%, 8% and 6% of encounters, respectively. Mental health treatment plans, which provide subsidised access to mental health services, were ascribed in approximately 7.7% of encounters where an eating disorder was managed. CONCLUSION: Primary care provides an opportunity to improve detection and management of eating disorders, particularly when patients present for 'other' issues or with unexplained low body mass index and one or more symptoms related to an eating disorder.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Clínicos Gerais , Austrália/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/epidemiologia , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Humanos , Prevalência , Atenção Primária à Saúde
20.
Int J Eat Disord ; 52(10): 1077-1094, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31328815

RESUMO

OBJECTIVE: Despite the existence of reviews which document the effectiveness of online therapies, there is little consensus regarding the exact components of online treatment delivery that are most effective in maintaining user engagement and reducing eating disorder (ED) symptomology. The current review and meta-analysis aimed to determine which components of web-based, ED self-help interventions are associated with lower attrition and improved therapeutic outcome. METHOD: A systematic search of electronic databases (PsycINFO, Medline, Web of Science, Scopus) was conducted for published studies of web-based interventions for EDs and a meta-analysis of the final included studies was performed. Each intervention was coded across four dimensions, including the multimedia channels employed (e.g., text, audio, videos), degree of user interactivity (e.g., online self-monitoring, skills exercises), level of automated feedback (e.g., reminders, personalized feedback), and technological device through which the program was accessed (e.g., smartphone, computer). RESULTS: A final 23 papers were included. The results of meta-regressions indicated that higher scores on the multimedia subscale were associated with greater ED symptom improvement in treatment groups. Conversely, a higher degree of feedback in the treatment group was associated with a group difference in ED psychopathology favoring the control group. Other intervention components were not associated with treatment outcome or dropout. DISCUSSION: The results are discussed in relation to limitations of the scale used to quantify digital intervention features, as well as the limited diversity and technological sophistication of available ED digital interventions. Such findings indicate the importance of understanding the digital components, which differentiate online therapeutic programs.


Objetivo: A pesar de las existencia de revisiones que documentan la efectividad de las terapias en línea, hay poco consenso acerca de los componentes exactos de los tratamientos llevados a cabo en línea que son más efectivos en mantener involucrado al usuario y reducir la sintomatología de trastorno de la conducta alimentaria (TCA). La presente revisión y meta-análisis pretende determinar qué componentes de las intervenciones de autoayuda para TCA basadas en la web, están asociadas con menor deserción y resultados terapéuticos mejorados. Método: Una revisión sistemática de las bases de datos electrónicas (PsycINFO, Medline, Web of Science, Scopus) fueron revisadas buscando estudios de intervenciones para TCAs basadas en la web y se realizó un meta-análisis de los estudios finalmente incluidos. Cada intervención fue codificada en cuatro dimensiones, incluyendo los canales multimedia (por ejemplo, texto, audio, videos), grado de interacción con el usuario (por ejemplo, auto monitoreo en línea, ejercicios de habilidades), nivel de retroalimentación automatizada (por ejemplo, recordatorios, retroalimentación personalizada), y aparatos tecnológicos a través de los cuáles se accesó al programa (por ejemplo, teléfonos inteligentes, computadora). Resultados: Al final fueron incluidos 23 estudios. Los resultados de las meta-regresiones indicaron que puntuaciones más elevadas en la subescala de multimedia estaba asociado con mayor mejoría de los síntomas de TCA en los grupos de tratamiento. Por lo contrario, un mayor grado de retroalimentación en el grupo de tratamiento fue asociado con una diferencia grupal en la psicopatología de TCA favoreciendo el grupo control. Otros componentes de la intervención no fueron asociados con resultados o abandonos de tratamiento. Discusión: Los resultados fueron discutidos en relación a las limitaciones de la escala utilizada para cuantificar las características de la intervención digital, así como la limitada diversidad y sofisticación tecnológica de las intervenciones digitales para TCA disponibles. Estos hallazgos indican la importancia de entender los componentes digitales que diferencían los programas terapéuticos en línea.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Telemedicina/métodos , Comportamentos Relacionados com a Saúde , Humanos , Resultado do Tratamento
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