Is a breakdown in trust, transparency and social cohesion a price worth paying for more extensive data linkage?

The aggregation and linkage of data collected by different public services can often be presented unproblematically as a solution to various social issues, notably so in the last year in response to the public health crisis of COVID-19. Drawing on new survey evidence, Rosalind Edwards, Val Gillies and Sarah Gorin¸ suggest greater care should be given to the social implications of extensive data linkage and the way it is differentially perceived and experienced across social groups

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease gene discovery. In this study, exome sequencing analysis was used to search for potentially causal DNA variants in a two-generation pedigree with apparent dominant retinitis pigmentosa.MethodsVariant identification and analysis of three affected members (mother and two affected offspring) was performed via exome sequencing. Parental samples of the index case were used to establish inheritance. Follow-up testing of 94 additional retinitis pigmentosa pedigrees was performed via retrospective analysis or Sanger sequencing.Results and conclusionsA total of 136 high quality coding variants in 123 genes were identified which are consistent with autosomal dominant disease. Of these, one of the strongest genetic and functional candidates is a c.269A>G (p.Tyr90Cys) variant in ARL3. Follow-up testing established that this variant occurred de novo in the index case. No additional putative causal variants in ARL3 were identified in the follow-up cohort, suggesting that if ARL3 variants can cause adRP it is an extremely rare phenomenon

‘Seen’ through records : parents’ access to children’s social care records in an age of increasing datafication

General Data Protection Regulations state that parents may submit a Subject Access Request (SAR) to see personal records held about them. In this article, we draw on interviews with parents who have made an SAR in order to view their children’s social care records. Their experiences reveal the significant barriers of time, energy and bureaucracy that they faced in accessing their children’s records. The parents felt that they were ‘seen’ through their records, reported inaccuracies in information about them and relayed the devastating impact that false allegations of maltreatment continued to have in their lives. Datafication becomes an integral part of the unequal power dynamic between parents and professionals, further shifting the balance towards professionals, damaging fragile trust and engagement. Crucially, there are ethical questions raised for the social work profession about the accessibility and accountability of local authority processes when parents seek justice and reparation for harm. Given the importance of records in decision making about intervention in families lives and increasing datafication of public services working with families through electronic systems including predictive analytics, our indicative findings point to the need for further investigation

Factors Related to Implementation and Reach of a Pragmatic Multisite Trial: The My Own Health Report (MOHR) Study

BACKGROUND: Contextual factors relevant to translating healthcare improvement interventions to different settings are rarely collected systematically. This study articulates a prospective method for assessing and describing contextual factors related to implementation and patient reach of a pragmatic trial in primary care. METHODS: In a qualitative case-series, contextual factors were assessed from the My Own Health Report (MOHR) study, focused on systematic health risk assessments and goal setting for unhealthy behaviors and behavioral health in nine primary care practices. Practice staff interviews and observations, guided by a context template were conducted prospectively at three time points. Patient reach was calculated as percentage of patients completing MOHR of those who were offered MOHR and themes describing contextual factors were summarized through an iterative, data immersion process.These included practice members' motivations towards MOHR, practice staff capacity for implementation, practice information system capacity, external resources to support quality improvement, community linkages, and implementation strategy fit with patient populations. CONCLUSIONS: Systematically assessing contextual factors prospectively throughout implementation of quality improvement initiatives helps translation to other health care settings. Knowledge of contextual factors is essential for scaling up of effective interventions

Activation of AMP-activated protein kinase rapidly suppresses multiple pro-inflammatory pathways in adipocytes including IL-1 receptor-associated kinase-4 phosphorylation

yesInflammation of adipose tissue in obesity is associated with increased IL-1β, IL-6 and TNF-α secretion and proposed to contribute to insulin resistance. AMP-activated protein kinase (AMPK) regulates nutrient metabolism and is reported to have anti-inflammatory actions in adipose tissue, yet the mechanisms underlying this remain poorly characterised. The effect of AMPK activation on cytokine-stimulated proinflammatory signalling was therefore assessed in cultured adipocytes. AMPK activation inhibited IL-1β-stimulated CXCL10 secretion, associated with reduced interleukin-1 receptor associated kinase-4 (IRAK4) phosphorylation and downregulated MKK4/JNK and IKK/IκB/NFκB signalling. AMPK activation inhibited TNF-α-stimulated IKK/IκB/NFκB signalling but had no effect on JNK phosphorylation. The JAK/STAT3 pathway was also suppressed by AMPK after IL-6 stimulation and during adipogenesis. Adipose tissue from AMPKα1−/− mice exhibited increased JNK and STAT3 phosphorylation, supporting suppression of these distinct proinflammatory pathways by AMPK in vivo. The inhibition of multiple pro-inflammatory signalling pathways by AMPK may underlie the reported beneficial effects of AMPK activation in adipose tissue.British Heart Foundatio

Burnout among surgeons before and during the SARS-CoV-2 pandemic: an international survey

Background: SARS-CoV-2 pandemic has had many significant impacts within the surgical realm, and surgeons have been obligated to reconsider almost every aspect of daily clinical practice. Methods: This is a cross-sectional study reported in compliance with the CHERRIES guidelines and conducted through an online platform from June 14th to July 15th, 2020. The primary outcome was the burden of burnout during the pandemic indicated by the validated Shirom-Melamed Burnout Measure. Results: Nine hundred fifty-four surgeons completed the survey. The median length of practice was 10 years; 78.2% included were male with a median age of 37 years old, 39.5% were consultants, 68.9% were general surgeons, and 55.7% were affiliated with an academic institution. Overall, there was a significant increase in the mean burnout score during the pandemic; longer years of practice and older age were significantly associated with less burnout. There were significant reductions in the median number of outpatient visits, operated cases, on-call hours, emergency visits, and research work, so, 48.2% of respondents felt that the training resources were insufficient. The majority (81.3%) of respondents reported that their hospitals were included in the management of COVID-19, 66.5% felt their roles had been minimized; 41% were asked to assist in non-surgical medical practices, and 37.6% of respondents were included in COVID-19 management. Conclusions: There was a significant burnout among trainees. Almost all aspects of clinical and research activities were affected with a significant reduction in the volume of research, outpatient clinic visits, surgical procedures, on-call hours, and emergency cases hindering the training. Trial registration: The study was registered on clicaltrials.gov "NCT04433286" on 16/06/2020

Epidemiology of basal-like breast cancer

Risk factors for the newly identified “intrinsic” breast cancer subtypes (luminal A, luminal B, basal-like and human epidermal growth factor receptor 2-positive/estrogen receptor-negative) were determined in the Carolina Breast Cancer Study, a population-based, case–control study of African-American and white women. Immunohistochemical markers were used to subtype 1,424 cases of invasive and in situ breast cancer, and case subtypes were compared to 2,022 controls. Luminal A, the most common subtype, exhibited risk factors typically reported for breast cancer in previous studies, including inverse associations for increased parity and younger age at first full-term pregnancy. Basal-like cases exhibited several associations that were opposite to those observed for luminal A, including increased risk for parity and younger age at first term full-term pregnancy. Longer duration breastfeeding, increasing number of children breastfed, and increasing number of months breastfeeding per child were each associated with reduced risk of basal-like breast cancer, but not luminal A. Women with multiple live births who did not breastfeed and women who used medications to suppress lactation were at increased risk of basal-like, but not luminal A, breast cancer. Elevated waist-hip ratio was associated with increased risk of luminal A in postmenopausal women, and increased risk of basal-like breast cancer in pre- and postmenopausal women. The prevalence of basal-like breast cancer was highest among premenopausal African-American women, who also showed the highest prevalence of basal-like risk factors. Among younger African-American women, we estimate that up to 68% of basal-like breast cancer could be prevented by promoting breastfeeding and reducing abdominal adiposity

La Bibliothèque cantonale jurassienne se développe dans le canton: réflexion et propositions pour la création de relais dans les districts de Delémont et des Franches-Montagnes

Aujourd’hui, il est devenu important, voire primordial, pour toutes bibliothèques de se rapprocher de la population et de leurs usagers. La Bibliothèque cantonale jurassienne (BiCJ), située à Porrentruy, dans le district jurassien du même nom, souhaite développer un moyen de mettre à disposition ses services aux habitants des deux autres districts, celui de Delémont et des Franches-Montagnes. Par la même occasion, elle développerait de nouveaux services et se rendrait plus visible auprès du public. Ce souhait se traduirait par la mise en place de relais dans les lieux précédemment cités. Toutefois, avant toute réalisation concrète, il est important pour cette institution de se rendre compte des différentes implications liées à un tel projet. Ce travail est donc destiné à éclairer la BiCJ sur les choix possibles et les investissements en rapport avec chacun d’entre eux. Trois propositions ont été élaborées à la suite des étapes mentionnées ci-après. La première partie s’est déclinée sous la forme de plusieurs états des lieux. Les deux premiers, menés en parallèle, ont concerné la BiCJ et des projets similaires présents dans le monde professionnel. Puis, pour mieux se rendre compte de différentes dimensions liées au Canton du Jura, un état des lieux de ce dernier a été rédigé. Pour finir, des normes et recommandations en rapport avec la création de bibliothèques de tailles diverses, ont été sélectionnées et ont servi de base de travail pour certains chiffres mentionnés dans les propositions. La deuxième partie a consisté en la rédaction des trois propositions. Afin de pouvoir être comparables, ces dernières ont suivi un cahier des charges dont les éléments ont été définis au préalable. Pour finir, une réflexion sur les moyens de promouvoir les relais auprès du public a été menée. De là, des solutions ont pu être envisagées