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

Parental Support and Adolescents’ Coping with Academic Stressors: A Longitudinal Study of Parents’ 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 adolescents’ ways of academic coping, above and beyond the impact of three types of academic stress, students’ 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

Electronic gaming machine characteristics: it's the little things that count

A range of gamblers, from low-frequency social gamblers through to problem gamblers in treatment, participated in focus groups discussing the characteristics of Electronic Gaming Machines (EGMs) that they found attractive. Analyses of the resulting transcripts resulted in two groups of EGM characteristics being identified as important, one group associated with winning and one with betting. Overall, free spin features were identified in all groups as the most attractive characteristic of EGMS. Beyond that it was smaller win-related characteristics, and low-denomination machines with multiple playable lines that were associated with increased duration and intensity of gambling behaviour. The important characteristics were consistent across different levels of gamblers, with the key behavioural difference being a self-reported ‘expertise’, and ‘strategic’ approach to gambling amongst higher-frequency gamblers and problem gamblers in treatment. The key characteristics all occur frequently and result in more wins and extended gambling sessions. The patterns identified resonated with established behavioural principles, and with models describing the development of problem gambling and addictions more generally

A Model for Transgenerational Imprinting Variation in Complex Traits

Despite the fact that genetic imprinting, i.e., differential expression of the same allele due to its different parental origins, plays a pivotal role in controlling complex traits or diseases, the origin, action and transmission mode of imprinted genes have still remained largely unexplored. We present a new strategy for studying these properties of genetic imprinting with a two-stage reciprocal F mating design, initiated with two contrasting inbred lines. This strategy maps quantitative trait loci that are imprinted (i.e., iQTLs) based on their segregation and transmission across different generations. By incorporating the allelic configuration of an iQTL genotype into a mixture model framework, this strategy provides a path to trace the parental origin of alleles from previous generations. The imprinting effects of iQTLs and their interactions with other traditionally defined genetic effects, expressed in different generations, are estimated and tested by implementing the EM algorithm. The strategy was used to map iQTLs responsible for survival time with four reciprocal F populations and test whether and how the detected iQTLs inherit their imprinting effects into the next generation. The new strategy will provide a tool for quantifying the role of imprinting effects in the creation and maintenance of phenotypic diversity and elucidating a comprehensive picture of the genetic architecture of complex traits and diseases

Usability and feasibility of PreventS-MD webapp for stroke prevention

Background: Most strokes and cardiovascular diseases (CVDs) are potentially preventable if their risk factors are identified and well controlled. Digital platforms, such as the PreventS-MD webapp (PreventS-MD) may aid health care professionals (HCPs) in assessing and managing risk factors and promoting lifestyle changes for their patients.Methods: This is a mixed methods cross-sectional 2-phase survey using a largely positivist (quantitative and qualitative) framework. During phase 1, a prototype of PreventS-MD was tested internationally by 59 of 69 consenting HCPs of different backgrounds, age, sex, working experience and specialities using hypothetical data. Collected comments/suggestions from the study HCPs in phase 1 were reviewed and implemented. In phase 2, a near-final version of PreventS-MD was developed and tested by 58 of 72 consenting HCPs using both hypothetical and real patient (n=10) data. Qualitative semi-structured interviews with real patients (n=10) were conducted, and 1-month adherence to the preventative recommendations was assessed by self-reporting. The four System Usability Scale (SUS) groups of scores (0-50 unacceptable; 51-68 poor, 68-80.3 good; >80.3 excellent) were used to determine usability of PreventS-MD.Findings: 99 HCPs from 27 countries (45% from low- to middle-income countries) participated in the study, out of whom 10 HCPs were involved in the development of PreventS before the study, and therefore were not involved in the survey. Of the remaining 89 HCPs 69 consented to the first phase of the survey, out of whom 59 completed the first phase of the survey (response rate 86%) and 58 HCPs completed the second phase of the survey (response rate 84%). The SUS scores supported good usability of the prototype (mean score=80.2; 95% CI [77.0-84.0]) and excellent usability of the final version of PreventS-MD (mean score=81.7; 95%CI [79.1-84.3]) in the field. Scores were not affected by the age, sex, working experience or speciality of the HCPs. One month follow-up of the patients confirmed the high level of satisfaction/acceptability of PreventS-MD and (100%) adherence to the recommendations. Interpretation: The PreventS-MD webapp has a high level of usability, feasibility and satisfaction by HCPs and individuals at risk of stroke/CVD. Individuals at risk of stroke/CVD demonstrated a high level of confidence and motivation in following and adhering to preventative recommendations generated by PreventS-MD

An improved pig reference genome sequence to enable pig genetics and genomics research.

BACKGROUND: The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. RESULTS: We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. CONCLUSIONS: These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs

Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial

Background Findings from the RESTART trial suggest that starting antiplatelet therapy might reduce the risk of recurrent symptomatic intracerebral haemorrhage compared with avoiding antiplatelet therapy. Brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases (such as cerebral microbleeds) are associated with greater risks of recurrent intracerebral haemorrhage. We did subgroup analyses of the RESTART trial to explore whether these brain imaging features modify the effects of antiplatelet therapy

Cardiovascular Risk Associated with Interactions among Polymorphisms in Genes from the Renin-Angiotensin, Bradykinin, and Fibrinolytic Systems

Vascular fibrinolytic balance is maintained primarily by interplay of tissue plasminogen activator (t-PA) and plasminogen activator inhibitor type 1 (PAI-1). Previous research has shown that polymorphisms in genes from the renin-angiotensin (RA), bradykinin, and fibrinolytic systems affect plasma concentrations of both t-PA and PAI-1 through a set of gene-gene interactions. In the present study, we extend this finding by exploring the effects of polymorphisms in genes from these systems on incident cardiovascular disease, explicitly examining two-way interactions in a large population-based study