221 research outputs found
Establishing the needs of Type 1 diabetes users for mobile application design
Living with Type 1 diabetes as a child presents a great deal of responsibilities at a young age. These responsibilities require knowledge of the disease, constant monitoring, awareness, and more. A variety of mobile applications have been created to aid children with these responsibilities, but a thorough investigation of these users\u27 needs is a missing piece that is not often, if at all, conducted. This research aims to understand these users\u27 needs in great depth in order to offer appropriate design guidelines for a mobile application to aid in the daily management and medical adherence of a child living with Type 1 diabetes. Six family cases (11 participants) provided qualitative support to these ideas through interview sessions. Thorough qualitative analysis following a critical ethnography epistemology approach was conducted from this data.
Interview transcripts about the daily life and experiences of the 6 families living with Type 1 were analyzed and coded for emergent categories. The categories included responsibilities, travel, school, exercise, impression, diagnosis, communication, and devices/technology. These coded categories were later turned into a set of four themes. The themes related to participants\u27 need for support and assistance (e.g., by an app). These themes included daily responsibilities, emotional effects, support, and not feeling different from others. The conclusions drawn from this information provided the justification for the set of design guidelines for a mobile application aiding in Type 1 diabetes care
Epigenetics and transgenerational inheritance in domesticated farm animals
Epigenetics provides a molecular mechanism of inheritance that is not solely dependent on DNA sequence and that can account for non-Mendelian inheritance patterns. Epigenetic changes underlie many normal developmental processes, and can lead to disease development as well. While epigenetic effects have been studied in well-characterized rodent models, less research has been done using agriculturally important domestic animal species. This review will present the results of current epigenetic research using farm animal models (cattle, pigs, sheep and chickens). Much of the work has focused on the epigenetic effects that environmental exposures to toxicants, nutrients and infectious agents has on either the exposed animals themselves or on their direct offspring. Only one porcine study examined epigenetic transgenerational effects; namely the effect diet micronutrients fed to male pigs has on liver DNA methylation and muscle mass in grand-offspring (F2 generation). Healthy viable offspring are very important in the farm and husbandry industry and epigenetic differences can be associated with production traits. Therefore further epigenetic research into domestic animal health and how exposure to toxicants or nutritional changes affects future generations is imperative
Negotiating desires and options: How mothers who carry the fragile X gene experience reproductive decisions
This paper contributes an empirically-based analysis of how women negotiate reproductive desires and constructions of risk in light of genetic information for a single gene disorder with known inheritance patterns. Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and female carriers have a 50% probability with each pregnancy of transmitting the FX gene. We present data from interviews conducted with 108 mothers across the U.S. who participated in a longitudinal, mixed methods study on family adaptations to FXS and who have at least one child with FXS. Womenâs accounts of their reproductive desires, actions, and reasoning indicate that the known 50% risk of transmitting the FX gene was a powerful deterrent to attempting to have more children through unmediated pregnancy. The majority (77%) decided not to have any more biological children after carrier diagnosis. This decision often required revising previous plans for how many children they would have, how and when they would have them, and what kind of mothers they would be. However, genetic risk was not a primary consideration in the reproductive calculations of 22 women who chose to continue planned and unplanned unmediated pregnancies. Though womenâs reproductive negotiations are constrained by medical discourse and practices, they are also unpredictable and emerge out of lived experiences and sometimes ambivalent ways of reckoning. While increased availability and accuracy of genetic information and testing contribute to certain forms of family planning that prioritize genetic risk management, we also find that some families call upon alternative understandings and desires for making a family to articulate genetic risk and negotiate their reproductive futures
Strengthening Sustainable Northern Food Systems: Federal Policy Constraints and Potential Opportunities
This paper explores how Canadian federal policy and frameworks can better support community-based initiatives to reduce food insecurity and build sustainable food systems in the North. Through an examination of the current state of food systems infrastructure, transportation, harvest, and production in the Yukon, Northwest Territories, Nunavut, Nunavik, and Nunatsiavut, we argue in favour of a multi-sector approach that supports diversified food systems, including traditional/country food production and distribution, in a way that values and prioritizes community-led initiatives and Indigenous peoplesâ self-determination and self-governance. The challenge of developing sustainable, northern food systems requires made-in-the-North solutions that are attuned to cultural, geographic, environmental, and political contexts. Recent policy developments suggest some progress in this direction, however much more work is needed. Ultimately, sustainable northern food systems must be defined by and for Northerners at community, local, and regional levels, with particular attention paid to treaty rights and the right to self-determination of First Nations and other Indigenous communities.Cet article se penche sur la maniĂšre dont les politiques et les cadres de rĂ©fĂ©rence fĂ©dĂ©raux du Canada peuvent mieux soutenir les initiatives communautaires afin dâattĂ©nuer lâinsĂ©curitĂ© alimentaire et dâĂ©difier des systĂšmes alimentaires durables dans le Nord. En nous appuyant sur lâexamen de lâĂ©tat actuel de lâinfrastructure des systĂšmes alimentaires, du transport, des rĂ©coltes et de la production du Yukon, des Territoires du Nord-Ouest, du Nunavut, du Nunavik et du Nunatsiavut, nous plaidons en faveur dâune approche multisectorielle favorisant des systĂšmes alimentaires diversifiĂ©s, y compris la production et la distribution dâaliments traditionnels ou du terroir, valorisant et priorisant les initiatives communautaires de mĂȘme que lâautodĂ©termination et lâautonomie gouvernementale des peuples autochtones. Le dĂ©fi consistant Ă concevoir des systĂšmes alimentaires durables dans le Nord nĂ©cessite des solutions provenant du Nord, solutions qui tiennent compte des contextes culturel, gĂ©ographique, environnemental et politique. De rĂ©cents dĂ©veloppements en matiĂšre de politiques suggĂšrent un certain progrĂšs, mais il reste toutefois fort Ă faire dans ce sens. Au bout du compte, les systĂšmes alimentaires durables dans le Nord doivent ĂȘtre dĂ©finis par et pour les gens du Nord Ă lâĂ©chelle communautaire, locale et rĂ©gionale, en accordant une attention particuliĂšre aux droits issus des traitĂ©s ainsi quâau droit Ă lâautodĂ©termination des PremiĂšres Nations et dâautres collectivitĂ©s autochtones
Parental Support and Adolescentsâ Coping with Academic Stressors: A Longitudinal Study of Parentsâ Influence Beyond Academic Pressure and Achievement
Adolescents face many academic pressures that require good coping skills, but coping skills can also depend on social resources, such as parental support and fewer negative interactions. The aim of this study was to determine if parental support and parental negative interactions concurrently and longitudinally relate to adolescentsâ ways of academic coping, above and beyond the impact of three types of academic stress, studentsâ achievement at school (i.e., grades in school), and age. Survey data were collected from 839 Australian students in grades 5 to 10 (Mage = 12.2, SD = 1.72; 50% girls). Students completed measures of support and negative interactions with parents; academic stress from workload, external pressure (teachers/parents) to achieve, and intrapsychic pressure for high achievement; and ways of academic coping that were grouped into two positive and two negative types. Hypothesized associations were tested concurrently and from one year to the next using path modeling. Beyond the numerous significant influences of academic stress and achievement on coping, and control for age and COVID-19 timing, adolescents with more parental support reported more use of engagement coping (e.g., strategizing) and comfort-seeking, whereas those who reported more negative interactions with parents reported more use of disengagement coping (e.g., concealment) and escape. In the longitudinal model, parental support predicted an increase in engagement and comfort-seeking and a decrease in disengagement coping, whereas negative interaction with parents predicted an increase in disengagement coping. Overall, the findings support the view that coping with academic stressors will continue to depend on parent-adolescent relationships even into the teen years
Identification of Epigenetic Signature Associated With Alpha Thalassemia/Mental Retardation X-linked Syndrome
BACKGROUND: Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene
RESULTS: We performed genome-wide DNA methylation assessment of the peripheral blood samples from 18 patients with ATR-X and compared it to 210 controls. We demonstrated the evidence of a unique and highly specific DNA methylation epi-signature in the peripheral blood of ATRX patients, which was corroborated by targeted bisulfite sequencing experiments. Although genomically represented, differentially methylated regions showed evidence of preferential clustering in pericentromeric and telometric chromosomal regions, areas where ATRX has multiple functions related to maintenance of heterochromatin and genomic integrity.
CONCLUSION: Most significant methylation changes in the 14 genomic loci provide a unique epigenetic signature for this syndrome that may be used as a highly sensitive and specific diagnostic biomarker to support the diagnosis of ATR-X, particularly in patients with phenotypic complexity and in patients wit
Impaired vascular function and repair in patients with premature coronary artery disease
Background Endothelial dysfunction is central to the pathogenesis of coronary artery disease, but the role of local and circulating endothelial progenitor cells in maintaining vascular health is poorly understood. We hypothesised that impaired local and circulating vascular repair mechanisms predispose to endothelial dysfunction and the premature onset of coronary artery disease.
Methods and results Patients with premature coronary artery disease (nâ=â16) and healthy age- and sex-matched controls (nâ=â16) underwent venous occlusion plethysmography with intra-arterial infusion of acetylcholine and sodium nitroprusside. Numbers of circulating endothelial progenitor cells were directly quantified in whole blood by flow cytometry. Endothelial cells were isolated from the blood vessel wall and from peripheral blood mononuclear cells, and expanded in vitro for phenotypic and functional characterisation and analysis of microRNA expression levels. A dose-dependent increase in forearm blood flow (pâ<â0.001) was attenuated in response to the endothelial-dependent vasodilator acetylcholine in patients compared with controls (pâ=â0.03). No differences in the number of circulating endothelial progenitor cells or in the phenotype, function or microRNA expression levels of endothelial outgrowth cells isolated from blood were observed in patients and controls. Conversely, local vessel wall endothelial cells from patients had significant impairments in proliferation, adhesion and migration, and significantly reduced expression levels of microRNAs known to regulate endothelial function (miRs â10âa, âlet7b, â126 and â181âb) (pâ<â0.05 for all).
Conclusion Local vessel wall derived endothelial cells, rather than circulating endothelial progenitor cells and their progeny, are impaired in patients with vascular dysfunction and premature coronary artery disease
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