21 research outputs found
Self-reported positive impact of mentored clinical research training is associated with academic success in hematology
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A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
Introduction: The aetiology of congenital hearing loss is heterogeneous, and in many infants a genetic cause is suspected. Parents face a diagnostic odyssey when searching for a cause of their infant’s hearing loss. Through the Melbourne Genomics Health Alliance, a prospective cohort of infants will be offered whole-exome sequencing (WES) with targeted analysis in conjunction with chromosome microarray to determine the genetic causes of congenital hearing loss. Parents will also be offered the opportunity to receive additional results from their infant’s WES. Methods: Eligible infants will be identified through the Victorian Infant Hearing Screening Program and offered an appointment in a paediatrician-run clinic, a genetics assessment and enrolment in the Victorian Childhood Hearing Impairment Longitudinal Databank. If parents consent to WES, genes causing deafness will be analysed and they can choose to obtain additional findings. For the additional results component, a modified laboratory protocol has been designed for reporting of results in the absence of a relevant phenotype. Parents’ experience of being offered WES will be evaluated using surveys. Discussion This project will provide descriptive analysis of the genetic aetiology of congenital hearing loss in this cohort and may provide data on genotype–phenotype correlations. Additionally, choices regarding additional findings will be analysed. Participants will represent a diverse cross section of the population, increasing the ability to generalise results beyond the study group. Evaluation surveys will allow analysis of preferences around counselling, usefulness of a decision aid and adequacy of information provision
Government policies on foreign domestic labour : who benefits? who profits?
This paper highlights examples of the complexities of increasing reliance on foreign domestic help in the context of global migration and discusses the regulatory policies on foreign domestic labour and their impact on the employment relationship between employers and the foreign domestic workers in Singapore
Electronic health record portal use by family caregivers of patients undergoing hematopoietic cell transplantation: United States national survey study
Background: As family caregivers of patients undergoing hematopoietic cell transplantation have multifaceted caregiving responsibilities (such as medical, household, financial) of long duration, they also have multiple physical, social, psychological, and informational needs. Objective: This study explored the prevalence of electronic health record patient portal use by family caregivers for managing both their own and their hematopoietic cell transplantation care recipient’s health, as well as potential factors associated with portal use. Methods: An electronic caregiver health survey, first developed via cognitive interviewing methods of hematopoietic cell transplantation caregivers, was distributed nationally (in the United States) by patient advocacy organizations to family caregivers of hematopoietic cell transplantation patients. It was used to assess self-reported caregiver demographics, caregiving characteristics, depression and anxiety with the Patient Health Questionnaire–4, coping with the Brief COPE, and caregiver portal use to manage care recipient’s and their own health. Results: We found that 77% of respondents (720/937) accessed electronic health record patient portals for their care recipients, themselves, or both. Multivariate models indicated use of care recipient electronic health record portals by caregivers was more likely with young, White, married, low-income caregivers caring for a parent, residing with the care recipient, and experiencing more caregiver depression. Caregiver use of their own electronic health record portal was more likely with young, White, high-income caregivers caring for a parent and experiencing chronic medical conditions of their own. Partially due to multicollinearity, anxiety and coping did not contribute independently to this model. Conclusions: Findings from the survey could open avenues for future research into caregiver use of technology for informational support or intervention, including wearables and mobile health
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CFTR regulates brown adipocyte thermogenesis via the cAMP/PKA signaling pathway
BackgroundCystic fibrosis (CF) is characterized by reduced growth and lower body weight, which are multifactorial. CF mouse models lack key disease characteristics that predispose to a negative energy balance, such as pulmonary infections or exocrine pancreatic insufficiency, and yet they still exhibit a growth defect and an abnormally increased energy expenditure. Whether adipocyte thermogenesis contributes to the elevated resting energy expenditure in CF mice is unknown.MethodsWe examined the expression of CFTR in thermogenic brown adipose tissue (BAT) and investigated a functional role for CFTR using BAT-specific CFTR null mice (CFTRBATKO).ResultsThe CFTR protein is expressed in mouse BAT at levels comparable to those in the lungs. BAT-specific inactivation of CFTR in mice increases whole-body energy expenditure associated with sympathetic stimulation by cold exposure. Weight gain on a high-fat diet is attenuated in these mice. However, CFTR-deficient brown adipocytes themselves have impaired, rather than enhanced, thermogenic responses. These cells feature decreased lipolysis and blunted activation of the cAMP/PKA signaling pathway in response to adrenergic stimulation. This suggests that compensatory heat production in other tissues likely accounts for the increased systemic energy expenditure seen in CFTRBATKO mice.ConclusionsOur data reveal a new role for CFTR in the regulation of adipocyte thermogenesis
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Relationships and Mendelian Randomization of Gut Microbe-Derived Metabolites with Metabolic Syndrome Traits in the METSIM Cohort.
The role of gut microbe-derived metabolites in the development of metabolic syndrome (MetS) remains unclear. This study aimed to evaluate the associations of gut microbe-derived metabolites and MetS traits in the cross-sectional Metabolic Syndrome In Men (METSIM) study. The sample included 10,194 randomly related men (age 57.65 ± 7.12 years) from Eastern Finland. Levels of 35 metabolites were tested for associations with 13 MetS traits using lasso and stepwise regression. Significant associations were observed between multiple MetS traits and 32 metabolites, three of which exhibited particularly robust associations. N-acetyltryptophan was positively associated with Homeostatic Model Assessment for Insulin Resistant (HOMA-IR) (β = 0.02, p = 0.033), body mass index (BMI) (β = 0.025, p = 1.3 × 10-16), low-density lipoprotein cholesterol (LDL-C) (β = 0.034, p = 5.8 × 10-10), triglyceride (0.087, p = 1.3 × 10-16), systolic (β = 0.012, p = 2.5 × 10-6) and diastolic blood pressure (β = 0.011, p = 3.4 × 10-6). In addition, 3-(4-hydroxyphenyl) lactate yielded the strongest positive associations among all metabolites, for example, with HOMA-IR (β = 0.23, p = 4.4 × 10-33), and BMI (β = 0.097, p = 5.1 × 10-52). By comparison, 3-aminoisobutyrate was inversely associated with HOMA-IR (β = -0.19, p = 3.8 × 10-51) and triglycerides (β = -0.12, p = 5.9 × 10-36). Mendelian randomization analyses did not provide evidence that the observed associations with these three metabolites represented causal relationships. We identified significant associations between several gut microbiota-derived metabolites and MetS traits, consistent with the notion that gut microbes influence metabolic homeostasis, beyond traditional risk factors