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Louiset M, Allwood D, Bailey S, et al., 2023, Let's reconnect healthcare with its mission and purpose by bringing humanity to the point of care., BMJ Lead
Frich JC, Allwood D, Busari JO, et al., 2023, Looking back, leading forward: BMJ Leader 5 years on, BMJ LEADER, Vol: 7, Pages: 1-2
Khanbhai M, Symons J, Flott K, et al., 2022, Enriching the value of patient experience feedback: interactive dashboard development using co-design and heuristic evaluation, JMIR Human Factors, Vol: 9, Pages: 1-14, ISSN: 2292-9495
Background:There is an abundance of patient experience data held within healthcare organisations but stakeholders and staff are often unable to use the output in a meaningful and timely way to improve care delivery. Dashboards, which use visualised data to summarise key patient experience feedback, have the potential to address these issues.Objective:The aim of this study was to develop a patient experience dashboard with an emphasis on FFT reporting as per the national policy drive. An iterative process involving co-design involving key stakeholders was used to develop the dashboard, followed by heuristic usability testing.Methods:A two staged approach was employed; participatory co-design involving 20 co-designers to develop a dashboard prototype followed by iterative dashboard testing. Language analysis was performed on free-text patient experience data from the Friends and Family Test (FFT) and the themes and sentiment generated was used to populate the dashboard with associated FFT metrics. Heuristic evaluation and usability testing were conducted to refine the dashboard and assess user satisfaction using the system usability score (SUS).Results:Qualitative analysis from the co-design process informed development of the dashboard prototype with key dashboard requirements and a significant preference for bubble chart display. Heuristic evaluation revelated the majority of cumulative scores had no usability problem (n=18), cosmetic problem only (n=7), or minor usability problem (n= 5). Mean SUS was 89.7 (SD 7.9) suggesting an excellent rating.Conclusions:The growing capacity to collect and process patient experience data suggests that data visualisation will be increasingly important in turning the feedback into improvements to care. Through heuristic usability we demonstrated that very large FFT data can be presented into a thematically driven, simple visual display without loss of the nuances and still allow for exploration of the original free-text comments. T
Aggarwal R, Visram S, Martin G, et al., 2021, Defining the enablers and barriers to the implementation of large-scale healthcare related mobile technology: a qualitative case study in a tertiary hospital setting, JMIR mHealth and uHealth, Vol: 10, Pages: 1-11, ISSN: 2291-5222
Background:The successful implementation of clinical smartphone applications in hospital settings requires close collaboration with industry partners. A large-scale hospital-wide implementation of a clinical mobile application for healthcare professionals developed in partnership with Google Health and academic partners was deployed on a Bring Your Own Device (BYOD) basis using mobile device management (MDM) at our UK academic hospital. As this was the first large-scale implementation of this type of innovation in the UK health system, important insights and lessons learned from the deployment may be useful to other organisations considering implementing similar technology in partnership with commercial companies.Objective:The aims of this study were to define the key enablers and barriers, and to propose a ‘roadmap’ for the implementation of a hospital-wide clinical mobile application developed in collaboration with an industry partner as a data processor and an academic partner for independent evaluation.Methods:Semi-structured interviews were conducted with high-level stakeholders from industry, academia and healthcare providers who had instrumental roles in the implementation of the application at our hospital. The interviews explored participant’s views on the enablers and barriers to the implementation process. Interviews were analysed using a broadly deductive approach to thematic analysis.Results:In total, 14 participants were interviewed. Key enablers identified were the establishment of a steering committee with high-level clinical involvement, well-defined roles and responsibilities between partners, effective communication strategies with end-users, safe information governance precautions and increased patient engagement and transparency. Barriers identified were the lack of dedicated resources for mobile change at our hospital, risk aversion, unclear strategy and regulation, and the implications of BYOD and MDM policies. The key lesson
Khanbhai M, Flott K, Manton D, et al., 2021, Identifying factors that promote and limit the effective use of real-time patient experience feedback: a mixed-methods study in secondary care, BMJ Open, Vol: 11, Pages: 1-7, ISSN: 2044-6055
Objectives:The Friends and Family Test (FFT) is commissioned by the National Health Service (NHS) in England to capture patient experience as a real-time feedback initiative for patient-centred quality improvement (QI). The aim of this study was to create a process map in order to identify the factors that promote and limit the effective use of FFT as a real-time feedback initiative for patient-centred QI. Setting:This study was conducted at a large London NHS Trust. Services include accident and emergency, inpatient, outpatient and maternity, which routinely collect FFT patient experience data. Participants:Healthcare staff and key stakeholders involved in FFT.Interventions:Semi-structured interviews were conducted on fifteen participants from a broad range of professional groups to evaluate their engagement with the FFT. Interview data were recorded, transcribed, and analysed for using deductive thematic analysis.Results:Concerns related to inefficiency in the flow of FFT data, lack of time to analyse FFT reports (with emphasis on high level reporting rather than QI), insufficient access to FFT reports and limited training provided to understand FFT reports for frontline staff. The sheer volume of data received was not amenable to manual thematic analysis resulting in inability to acquire insight from the free-text. This resulted in staff ambivalence towards FFT as a near real-time feedback initiative.Conclusions:The results state that there is too much FFT free text for meaningful analysis, and the output is limited to the provision of sufficient capacity and resource to analyse the data, without consideration of other options, such as text analytics and amending the data collection tool.
Roland D, Wolfe I, Klaber RE, et al., 2021, Final warning on the need for integrated care systems in acute paediatrics, ARCHIVES OF DISEASE IN CHILDHOOD, Vol: 107, ISSN: 0003-9888
Aggarwal R, Visram S, Martin G, et al., 2021, Defining the Enablers and Barriers to the Implementation of Large-scale, Health Care–Related Mobile Technology: Qualitative Case Study in a Tertiary Hospital Setting (Preprint)
<sec> <title>BACKGROUND</title> <p>The successful implementation of clinical smartphone apps in hospital settings requires close collaboration with industry partners. A large-scale, hospital-wide implementation of a clinical mobile app for health care professionals developed in partnership with Google Health and academic partners was deployed on a bring-your-own-device basis using mobile device management at our UK academic hospital. As this was the first large-scale implementation of this type of innovation in the UK health system, important insights and lessons learned from the deployment may be useful to other organizations considering implementing similar technology in partnership with commercial companies.</p> </sec> <sec> <title>OBJECTIVE</title> <p>The aims of this study are to define the key enablers and barriers and to propose a <i>road map</i> for the implementation of a hospital-wide clinical mobile app developed in collaboration with an industry partner as a data processor and an academic partner for independent evaluation.</p> </sec> <sec> <title>METHODS</title> <p>Semistructured interviews were conducted with high-level stakeholders from industry, academia, and health care providers who had instrumental roles in the implementation of the app at our hospital. The interviews explored the participants’ views on the enablers and barriers to the implementation process. The interviews were analyzed using a broadly deductive approach to thematic analysis.</p> </sec> <sec> <title>RESULTS</title> <p&g
Aitchison K, McGeown H, Holden B, et al., 2021, Population child health: understanding and addressing complex health needs, ARCHIVES OF DISEASE IN CHILDHOOD, Vol: 106, Pages: 387-+, ISSN: 0003-9888
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- Citations: 3
Moshe M, Daunt A, Flower B, et al., 2021, SARS-CoV-2 lateral flow assays for possible use in national covid-19 seroprevalence surveys (REACT2): diagnostic accuracy study, BMJ: British Medical Journal, Vol: 372, Pages: 1-8, ISSN: 0959-535X
Objective: To evaluate the performance of new lateral flow immunoassays (LFIAs) suitable for use in a national COVID-19 seroprevalence programme (REACT2).Design: Laboratory sensitivity and specificity analyses were performed for seven LFIAs on a minimum of 200 sera from individuals with confirmed SARS-CoV-2 infection, and 500 pre-pandemic sera respectively. Three LFIAs were found to have a laboratory sensitivity superior to the finger-prick sensitivity of the LFIA currently used in REACT2 seroprevalence studies (84%). These LFIAs were then further evaluated through finger-prick testing on participants with confirmed previous SARS-CoV-2 infection. Two LFIAs (Surescreen, Panbio) were evaluated in clinics in June-July, 2020, and a third LFIA (AbC-19) in September, 2020. A Spike protein enzyme-linked immunoassay (S-ELISA) and hybrid double antigen binding assay (DABA) were used as laboratory reference standards.Setting: Laboratory analyses were performed at Imperial College, London and University facilities in London, UK. Research clinics for finger-prick sampling were run in two affiliated NHS trusts.Participants: Sensitivity analysis on sera were performed on 320 stored samples from previous participants in the REACT2 programme with confirmed previous SARS-CoV-2 infection. Specificity analysis was performed using 1000 pre-pandemic sera. 100 new participants with confirmed previous SARS-CoV-2 infection attended study clinics for finger-prick testing.Main outcome measures: The accuracy of LFIAs in detecting IgG antibodies to SARS-CoV-2 in comparison to two in-house ELISAs.Results: The sensitivity of seven new LFIAs using sera varied between 69% and 100% (vs S-ELISA/hybrid DABA). Specificity using sera varied between 99.6% and 100%. Sensitivity on finger-prick testing for Panbio, Surescreen and AbC-19 was 77% (CI 61.4 to 88.2), 86% (CI 72.7 to 94.8) and 69% (CI 53.8 to 81.3) respectively vs S-ELISA/hybrid DABA. Sensitivity for sera from matched clinical samples performe
Khanbhai M, Symons J, Flott K, et al., 2021, Enriching the value of patient experience feedback: interactive dashboard development using co-design and heuristic evaluation (Preprint), Publisher: JMIR Publications Inc.
Background:There is an abundance of patient experience data held within healthcare organisations but stakeholders and staff are often unable to use the output in a meaningful and timely way to improve care delivery. Dashboards, which use visualised data to summarise key patient experience feedback, have the potential to address these issues.Objective:The aim of this study was to develop a patient experience dashboard with an emphasis on FFT reporting as per the national policy drive. An iterative process involving co-design involving key stakeholders was used to develop the dashboard, followed by heuristic usability testing.Methods:A two staged approach was employed; participatory co-design involving 20 co-designers to develop a dashboard prototype followed by iterative dashboard testing. Language analysis was performed on free-text patient experience data from the Friends and Family Test (FFT) and the themes and sentiment generated was used to populate the dashboard with associated FFT metrics. Heuristic evaluation and usability testing were conducted to refine the dashboard and assess user satisfaction using the system usability score (SUS).Results:Qualitative analysis from the co-design process informed development of the dashboard prototype with key dashboard requirements and a significant preference for bubble chart display. Heuristic evaluation revelated the majority of cumulative scores had no usability problem (n=18), cosmetic problem only (n=7), or minor usability problem (n= 5). Mean SUS was 89.7 (SD 7.9) suggesting an excellent rating.Conclusions:The growing capacity to collect and process patient experience data suggests that data visualisation will be increasingly important in turning the feedback into improvements to care. Through heuristic usability we demonstrated that very large FFT data can be presented into a thematically driven, simple visual display without loss of the nuances and still allow for exploration of the original free-text comments. T
Vollmer MAC, Glampson B, Mellan TA, et al., 2021, A unified machine learning approach to time series forecasting applied to demand at emergency departments, BMC Emergency Medicine, Vol: 21, Pages: 1-14, ISSN: 1471-227X
There were 25.6 million attendances at Emergency Departments (EDs) in Englandin 2019 corresponding to an increase of 12 million attendances over the pastten years. The steadily rising demand at EDs creates a constant challenge toprovide adequate quality of care while maintaining standards and productivity.Managing hospital demand effectively requires an adequate knowledge of thefuture rate of admission. Using 8 years of electronic admissions data from twomajor acute care hospitals in London, we develop a novel ensemble methodologythat combines the outcomes of the best performing time series and machinelearning approaches in order to make highly accurate forecasts of demand, 1, 3and 7 days in the future. Both hospitals face an average daily demand of 208and 106 attendances respectively and experience considerable volatility aroundthis mean. However, our approach is able to predict attendances at theseemergency departments one day in advance up to a mean absolute error of +/- 14and +/- 10 patients corresponding to a mean absolute percentage error of 6.8%and 8.6% respectively. Our analysis compares machine learning algorithms tomore traditional linear models. We find that linear models often outperformmachine learning methods and that the quality of our predictions for any of theforecasting horizons of 1, 3 or 7 days are comparable as measured in MAE. Inaddition to comparing and combining state-of-the-art forecasting methods topredict hospital demand, we consider two different hyperparameter tuningmethods, enabling a faster deployment of our models without compromisingperformance. We believe our framework can readily be used to forecast a widerange of policy relevant indicators.
Chingono J, Hargreaves D, Watson M, et al., 2021, Impact of outpatient appointments on school attendance, ARCHIVES OF DISEASE IN CHILDHOOD, Vol: 106, Pages: 101-101, ISSN: 0003-9888
Gibani MM, Toumazou C, Sohbati M, et al., 2020, Assessing a novel, lab-free, point-of-care test for SARS-CoV-2 (CovidNudge): a diagnostic accuracy study., The Lancet Microbe, Vol: 1, Pages: e300-e307, ISSN: 2666-5247
Background: Access to rapid diagnosis is key to the control and management of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Laboratory RT-PCR testing is the current standard of care but usually requires a centralised laboratory and significant infrastructure. We describe our diagnostic accuracy assessment of a novel, rapid point-of-care real time RT-PCR CovidNudge test, which requires no laboratory handling or sample pre-processing. Methods: Between April and May, 2020, we obtained two nasopharyngeal swab samples from individuals in three hospitals in London and Oxford (UK). Samples were collected from three groups: self-referred health-care workers with suspected COVID-19; patients attending emergency departments with suspected COVID-19; and hospital inpatient admissions with or without suspected COVID-19. For the CovidNudge test, nasopharyngeal swabs were inserted directly into a cartridge which contains all reagents and components required for RT-PCR reactions, including multiple technical replicates of seven SARS-CoV-2 gene targets (rdrp1, rdrp2, e-gene, n-gene, n1, n2 and n3) and human ribonuclease P (RNaseP) as sample adequacy control. Swab samples were tested in parallel using the CovidNudge platform, and with standard laboratory RT-PCR using swabs in viral transport medium for processing in a central laboratory. The primary analysis was to compare the sensitivity and specificity of the point-of-care CovidNudge test with laboratory-based testing. Findings: We obtained 386 paired samples: 280 (73%) from self-referred health-care workers, 15 (4%) from patients in the emergency department, and 91 (23%) hospital inpatient admissions. Of the 386 paired samples, 67 tested positive on the CovidNudge point-of-care platform and 71 with standard laboratory RT-PCR. The overall sensitivity of the point-of-care test compared with laboratory-based testing was 94% (95% CI 86-98) with an overall specificity of 100% (99-100). The sensitivity of the test varied
Hassanzadeh R, Klaber R, Watson M, et al., 2020, Data-driven, integrated primary and secondary care for children: moving from policy to practice, Journal of the Royal Society of Medicine, Vol: 114, Pages: 63-68, ISSN: 0141-0768
Despite the best efforts of clinicians, traditional healthcare models often struggle to meet the increasingly complex needs of children and young people under the age of 18 years, as well as 21st century challenges such as obesity and mental health problems. Policy makers and clinical leaders have argued that greater integration of primary and secondary care has the potential to meet the ‘Quadruple aim’ of better population health outcomes, patient and family satisfaction, provider satisfaction and reduced costs.1 More integrated services and improved data sharing across organisations are key enablers of child health improvement. However, there is sparse literature on how more integrated care for children and young people might work in practice or contribute to achieving these goals. We present the experience of developing a new model for integrated care delivery for children and young people in North West London, based on a common system of clinical records or dashboards across all providers. It includes case studies that illustrate the development of strong relationships and shared learning experiences between primary and secondary care.
Gibani M, Toumazou C, Sohbati M, et al., 2020, CovidNudge: diagnostic accuracy of a novel lab-free point-of-care diagnostic for SARS-CoV-2, Publisher: Cold Spring Harbor Laboratory
Background Access to rapid diagnosis is key to the control and management of SARS-CoV-2. Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR) testing usually requires a centralised laboratory and significant infrastructure. We describe the development and diagnostic accuracy assessment of a novel, rapid point-of-care RT-PCR test, the DnaNudge® platform CovidNudge test, which requires no laboratory handling or sample pre-processing.Methods Nasopharyngeal swabs are inserted directly into a cartridge which contains all reagents and components required for RT-PCR reactions, including multiple technical replicates of seven SARS-CoV-2 gene targets (rdrp1, rdrp2, e-gene, n-gene, n1, n2 and n3) and human ribonuclease P (RNaseP) as positive control. Between April and May 2020, swab samples were tested in parallel using the CovidNudge direct-to-cartridge platform and standard laboratory RT-PCR using swabs in viral transport medium. Samples were collected from three groups: self-referred healthcare workers with suspected COVID-19 (Group 1, n=280/386; 73%); patients attending the emergency department with suspected COVID-19 (Group 2, n=15/386; 4%) and hospital inpatient admissions with or without suspected COVID-19 (Group 3, n=91/386; 23%).Results Of 386 paired samples tested across all groups, 67 tested positive on the CovidNudge platform and 71 with standard laboratory RT-PCR. The sensitivity of the test varied by group (Group 1 93% [84-98%], Group 2 100% [48-100%] and Group 3 100% [29-100%], giving an average sensitivity of 94.4% (95% confidence interval 86-98%) and an overall specificity of 100% (95%CI 99-100%; Group 1 100% [98-100%]; Group 2 100% [69-100%] and Group 3 100% [96-100%]). Point of care testing performance was comparable during a period of high (25%) and low (3%) background prevalence. Amplification of the viral nucleocapsid (n1, n2, n3) targets were most sensitive for detection of SARS-CoV2, with the assay able to detect 1×104 viral particles in
Flower B, Brown JC, Simmons B, et al., 2020, Clinical and laboratory evaluation of SARS-CoV-2 lateral flow assays for use in a national COVID-19 sero-prevalence survey, Thorax, Vol: 75, Pages: 1082-1088, ISSN: 0040-6376
BackgroundAccurate antibody tests are essential to monitor the SARS-CoV-2 pandemic. Lateral flow immunoassays (LFIAs) can deliver testing at scale. However, reported performance varies, and sensitivity analyses have generally been conducted on serum from hospitalised patients. For use in community testing, evaluation of finger-prick self-tests, in non-hospitalised individuals, is required.MethodsSensitivity analysis was conducted on 276 non-hospitalised participants. All had tested positive for SARS-CoV-2 by RT-PCR and were ≥21d from symptom-onset. In phase I we evaluated five LFIAs in clinic (with finger-prick) and laboratory (with blood and sera) in comparison to a) PCR-confirmed infection and b) presence of SARS-CoV-2 antibodies on two “in-house” ELISAs. Specificity analysis was performed on 500 pre-pandemic sera. In phase II, six additional LFIAs were assessed with serum.Findings95% (95%CI [92.2, 97.3]) of the infected cohort had detectable antibodies on at least one ELISA. LFIA sensitivity was variable, but significantly inferior to ELISA in 8/11 assessed. Of LFIAs assessed in both clinic and laboratory, finger-prick self-test sensitivity varied from 21%-92% vs PCR-confirmed cases and 22%-96% vs composite ELISA positives. Concordance between finger-prick and serum testing was at best moderate (kappa 0.56) and, at worst, slight (kappa 0.13). All LFIAs had high specificity (97.2% - 99.8%).InterpretationLFIA sensitivity and sample concordance is variable, highlighting the importance of evaluations in setting of intended use. This rigorous approach to LFIA evaluation identified a test with high specificity (98.6% (95%CI [97.1, 99.4])), moderate sensitivity (84.4% with fingerprick (95%CI [70.5, 93.5])), and moderate concordance, suitable for seroprevalence surveys.
McGeorge E, Coughlan C, Fawcett M, et al., 2020, Quality improvement education for medical students: a near-peer pilot study., BMC Med Educ, Vol: 20
BACKGROUND: Quality improvement (QI) is an essential component of modern clinical practice. Front-line professionals offer valuable perspectives on areas for improvement and are motivated to deliver change. In the UK, all junior doctors are expected to participate in QI in order to advance to the next stage of their training. However, UK undergraduates receive no standardized training in QI methods. This is perpetuated within medical schools by a lack of teaching capacity and competing priorities, and may lead to tokenistic engagement with future QI projects. METHODS: We describe a near-peer teaching programme designed to introduce students to QI methods. This pilot study was conceived and delivered in full by junior doctors and used existing resources to ensure high quality teaching content. 111 fifth-year medical students from the University of Cambridge were taught in interactive, participative workshops that encourage them to develop their own QI change ideas and projects. Core topics included the model for improvement, driver diagrams, stakeholder engagement, measurement for improvement and analysing and presenting data. Students completed surveys before and immediately after this intervention to assess their understanding of and confidence in utilizing QI methods. Questionnaires were also completed by junior doctor tutors. RESULTS: Analysis of questionnaires completed before and immediately after the intervention revealed statistically significant improvements in students' self-reported understanding of QI (p < 0.05) and confidence in applying techniques to their own work (p < 0.05). Students expressed a preference for QI teaching delivered by junior doctors, citing a relaxed learning environment and greater relevance to their stage of training. Tutors reported increased confidence in using QI techniques and a greater willingness to engage with QI in future. CONCLUSIONS: In this single-centre study, near-peer teaching produced s
Coughlan C, Manek N, Razak Y, et al., 2020, How to improve care across boundaries., BMJ, Vol: 369
Klaber RE, Bailey S, 2019, Kindness: an underrated currency, BMJ-BRITISH MEDICAL JOURNAL, Vol: 367, ISSN: 0959-535X
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- Citations: 4
Steele L, Coote N, Klaber R, et al., 2019, Understanding case mix across three paediatric services: could integration of primary and secondary general paediatrics alter walk-in emergency attendances?, ARCHIVES OF DISEASE IN CHILDHOOD, Vol: 104, Pages: 432-436, ISSN: 0003-9888
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- Citations: 8
Kainth R, Soo AKS, Dhaliwal J, et al., 2018, Understanding and improving the experience of paediatricians in training., Arch Dis Child, Vol: 103, Pages: 521-522
Makrinioti H, Klaber R, Watson M, 2017, Around the world: preschool wheeze., Lancet Respir Med, Vol: 5, Pages: 688-689
Theodore C, Watson M, Klaber R, 2017, Co-creation of Integrated Care: The Wiki-Management Model (c) A case study example - Connecting Care for Children (CC4C), Publisher: UBIQUITY PRESS LTD, ISSN: 1568-4156
Klaber RE, Blair M, Lemer C, et al., 2016, Whole population integrated child health: moving beyond pathways, Archives of Disease in Childhood, Vol: 102, Pages: 5-7, ISSN: 0003-9888
Naidu SB, Kerr R, Kecman M, et al., 2016, DESIGNING A MANAGEMENT PLAN: A MIXED METHODS APPROACH TO EXPLORING PATIENT JOURNEYS IN CHILDREN WITH SEVERE AND RECURRENT WHEEZE, THORAX, Vol: 71, Pages: A164-A164, ISSN: 0040-6376
Blair M, Watson M, klaber R, et al., 2016, G311 How exactly does integrated paediatric care work? A theoretical research framework, Archives of Disease in Childhood, Vol: 101, Pages: A178-A179, ISSN: 1468-2044
Background Many areas in the UK are experimenting with different models of care delivery to improve integration of services and experiences of children young people and their carers. One such initiative “Connecting Care for Children” (CC4C) is based on three key components:- specialist outreach to a number of GP “hubs”, open access for advice and referrals and public and patient engagement. Robust evaluation of such health system change is desirable but often complex to conceptualise and achieve.Aim To develop an agreed conceptual framework to facilitate measurement of the quality of health system delivery in a defined population and to support research on proposed mediating factors.Methods A number of methods were used including stakeholder mapping, experiential “word cloud” capture, and “Action Effect Diagram” (AED) development.1 Engagement of staff, patients and young people at a number of collaborative events over a two year period. A joint workshop with academics from a number of institutions helped to refine specific measures and identify gaps in current knowledge. Over 100 individuals have been involved in drawing up the final model.Results Word cloud highlighted clinical and organisational issues (See Figure 1). There was considerable consistency across populations. An AED was developed over a series of iterations which elucidated the possible theoretical mechanisms for cause and effect of the three key components of the CC4C model. This was subsequently redrawn in a standardised logic model format to aid understanding (Figure 2). We have highlighted those elements which we believe are common to all such developments in integrated care and those which are for local determination and adaptation. Potential metrics for each of these segments are highlighted in Table 1.Conclusions We found a high degree of agreement for a conceptual framework which explains how integrated care processes might be mediated. Local aca
Montgomery-Taylor S, Watson M, Klaber R, 2016, Child Health General Practice Hubs: a service evaluation, ARCHIVES OF DISEASE IN CHILDHOOD, Vol: 101, Pages: 333-337, ISSN: 0003-9888
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- Citations: 27
Lemer C, Cheung R, Klaber R, et al., 2016, Understanding healthcare processes: how marginal gains can improve quality and value for children and families, ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION, Vol: 101, Pages: 31-37, ISSN: 1743-0585
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- Citations: 1
Alsters SIM, Goldstone AP, Buxton JL, et al., 2015, Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism, PLOS One, Vol: 10, ISSN: 1932-6203
Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.
Montgomery-Taylor S, Cotton R, Manek N, et al., 2015, Using an email advice line to connect care for children., Arch Dis Child, Vol: 100, Pages: 600-601
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