Professional competences to promote healthy ageing across the lifespan: a scoping review

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Strategies in Rapid Genetic Diagnostics of Critically Ill Children:Experiences From a Dutch University Hospital

Background: Genetic disorders are a substantial cause of infant morbidity and mortality and are frequently suspected in neonatal intensive care units. Non-specific clinical presentation or limitations to physical examination can result in a plethora of genetic testing techniques, without clear strategies on test ordering. Here, we review our 2-years experiences of rapid genetic testing of NICU patients in order to provide such recommendations. Methods: We retrospectively included all patients admitted to the NICU who received clinical genetic consultation and genetic testing in our University hospital. We documented reasons for referral for genetic consultation, presenting phenotypes, differential diagnoses, genetic testing requested and their outcomes, as well as the consequences of each (rapid) genetic diagnostic approach. We calculated diagnostic yield and turnaround times (TATs). Results: Of 171 included infants that received genetic consultation 140 underwent genetic testing. As a result of testing as first tier, 13/14 patients received a genetic diagnosis from QF-PCR; 14/115 from SNP-array; 12/89 from NGS testing, of whom 4/46 were diagnosed with a small gene panel and 8/43 with a large OMIM-morbid based gene panel. Subsequent secondary or tertiary analysis and/or additional testing resulted in five more diagnoses. TATs ranged from 1 day (QF-PCR) to a median of 14 for NGS and SNP-array testing, with increasing TAT in particular when many consecutive tests were performed. Incidental findings were detected in 5/140 tested patients (3.6%). Conclusion: We recommend implementing a broad NGS gene panel in combination with CNV calling as the first tier of genetic testing for NICU patients given the often unspecific phenotypes of ill infants and the high yield of this large panel

Professional competences to promote healthy ageing across the lifespan: a scoping review

As societies age, the development of resources and strategies that foster healthy ageing from the beginning of life become increasingly important. Social and healthcare professionals are key agents in this process; therefore, their training needs to be in agreement with societal needs. We performed a scoping review on professional competences for social and health workers to adequately promote healthy ageing throughout life, using the framework described by Arksey and O’Malley and the Joanna Briggs Institute Guidelines. A stakeholder consultation was held in each of the participating countries, in which 79 experts took part. Results show that current literature has been excessively focused on the older age and that more attention on how to work with younger population groups is needed. Likewise, not all disciplines have equally refected on their role before this challenge and interprofessional approaches, despite showing promise, have not been sufciently described. Based on our results, health and social professionals working to promote healthy ageing across the lifespan will need sound competences regarding person-centred communication, professional communication, technology applications, physiological and pathophysiological aspects of ageing, social and environmental aspects, cultural diversity, programs and policies, ethics, general and basic skills, context and self-management-related skills, health promotion and disease prevention skills, educational and research skills, leadership skills, technological skills and clinical reasoning. Further research should contribute to establishing which competences are more relevant to each discipline and at what level they should be taught, as well as how they can be best implemented to efectively transform health and social care systems.info:eu-repo/semantics/publishedVersio

WormQTL-public archive and analysis web portal for natural variation data in Caenorhabditis spp

Here, we present WormQTL (http://www.wormqtl.org), an easily accessible database enabling search, comparative analysis and meta-analysis of all data on variation in Caenorhabditis spp. Over the past decade, Caenorhabditis elegans has become instrumental for molecular quantitative genetics and the systems biology of natural variation. These efforts have resulted in a valuable amount of phenotypic, high-throughput molecular and genotypic data across different developmental worm stages and environments in hundreds of C. elegans strains. WormQTL provides a workbench of analysis tools for genotype-phenotype linkage and association mapping based on but not limited to R/qtl (http://www.rqtl.org). All data can be uploaded and downloaded using simple delimited text or Excel formats and are accessible via a public web user interface for biologists and R statistic and web service interfaces for bioinformaticians, based on open source MOLGENIS and xQTL workbench software. WormQTL welcomes data submissions from other worm researcher

What moves patients to participate in prehabilitation before major surgery? A mixed methods systematic review

Abstract Background Prehabilitation offers patients the opportunity to actively participate in their perioperative care by preparing themselves for their upcoming surgery. Experiencing barriers may lead to non-participation, which can result in a reduced functional capacity, delayed post-operative recovery and higher healthcare costs. Insight in the barriers and facilitators to participation in prehabilitation can inform further development and implementation of prehabilitation. The aim of this review was to identify patient-experienced barriers and facilitators for participation in prehabilitation. Methods For this mixed methods systematic review, articles were searched in PubMed, EMBASE and CINAHL. Articles were eligible for inclusion if they contained data on patient-reported barriers and facilitators to participation in prehabilitation in adults undergoing major surgery. Following database search, and title and abstract screening, full text articles were screened for eligibility and quality was assessed using the Mixed Method Appraisal Tool. Relevant data from the included studies were extracted, coded and categorized into themes, using an inductive approach. Based on these themes, the Capability, Opportunity, Motivation, Behaviour (COM-B) model was chosen to classify the identified themes. Results Three quantitative, 14 qualitative and 6 mixed methods studies, published between 2007 and 2022, were included in this review. A multitude of factors were identified across the different COM-B components. Barriers included lack of knowledge of the benefits of prehabilitation and not prioritizing prehabilitation over other commitments (psychological capability), physical symptoms and comorbidities (physical capability), lack of time and limited financial capacity (physical opportunity), lack of social support (social opportunity), anxiety and stress (automatic motivation) and previous experiences and feeling too fit for prehabilitation (reflective motivation). Facilitators included knowledge of the benefits of prehabilitation (psychological capability), having access to resources (physical opportunity), social support and encouragement by a health care professional (social support), feeling a sense of control (automatic motivation) and beliefs in own abilities (reflective motivation). Conclusions A large number of barriers and facilitators, influencing participation in prehabilitation, were found across all six COM-B components. To reach all patients and to tailor prehabilitation to the patient’s needs and preferences, it is important to take into account patients’ capability, opportunity and motivation. Trial registration Registered in PROSPERO (CRD42021250273) on May 18th, 2021

Usability and Preliminary Effectiveness of a Preoperative mHealth App for People Undergoing Major Surgery: Pilot Randomized Controlled Trial

Background: Major surgery is associated with negative postoperative outcomes such as complications and delayed or poor recovery. Multimodal prehabilitation can help to reduce the negative effects of major surgery. Offering prehabilitation by means of mobile health (mHealth) could be an effective new approach. Objective: The objectives of this pilot study were to (1) evaluate the usability of the Be Prepared mHealth app prototype for people undergoing major surgery, (2) explore whether the app was capable of bringing about a change in risk behaviors, and (3) estimate a preliminary effect of the app on functional recovery after major surgery. Methods: A mixed-methods pilot randomized controlled trial was conducted in two Dutch academic hospitals. In total, 86 people undergoing major surgery participated. Participants in the intervention group received access to the Be Prepared app, a smartphone app using behavior change techniques to address risk behavior prior to surgery. Both groups received care as usual. Usability (System Usability Scale), change in risk behaviors 3 days prior to surgery, and functional recovery 30 days after discharge from hospital (Patient-Reported Outcomes Measurement Information System physical functioning 8-item short form) were assessed using online questionnaires. Quantitative data were analyzed using descriptive statistics, chi-square tests, and multivariable linear regression. Semistructured interviews about the usability of the app were conducted with 12 participants in the intervention group. Thematic analysis was used to analyze qualitative data. Results: Seventy-nine people—40 in the intervention group and 39 in the control group—were available for further analysis. Participants had a median age of 61 (interquartile range 51.0-68.0) years. The System Usability Scale showed that patients considered the Be Prepared app to have acceptable usability (mean 68.2 [SD 18.4]). Interviews supported the usability of the app. The major point of improvement identified was further personalization of the app. Compared with the control group, the intervention group showed an increase in self-reported physical activity and muscle strengthening activities prior to surgery. Also, 2 of 2 frequent alcohol users in the intervention group versus 1 of 9 in the control group drank less alcohol in the run-up to surgery. No difference was found in change of smoking cessation. Between-group analysis showed no meaningful differences in functional recovery after correction for baseline values (β=–2.4 [95% CI –5.9 to 1.1]). Conclusions: The Be Prepared app prototype shows potential in terms of usability and changing risk behavior prior to major surgery. No preliminary effect of the app on functional recovery was found. Points of improvement have been identified with which the app and future research can be optimized

Usability and Preliminary Effectiveness of a Preoperative mHealth App for People Undergoing Major Surgery: Pilot Randomized Controlled Trial

BACKGROUND: Major surgery is associated with negative postoperative outcomes such as complications and delayed or poor recovery. Multimodal prehabilitation can help to reduce the negative effects of major surgery. Offering prehabilitation by means of mobile health (mHealth) could be an effective new approach. OBJECTIVE: The objectives of this pilot study were to (1) evaluate the usability of the Be Prepared mHealth app prototype for people undergoing major surgery, (2) explore whether the app was capable of bringing about a change in risk behaviors, and (3) estimate a preliminary effect of the app on functional recovery after major surgery. METHODS: A mixed-methods pilot randomized controlled trial was conducted in two Dutch academic hospitals. In total, 86 people undergoing major surgery participated. Participants in the intervention group received access to the Be Prepared app, a smartphone app using behavior change techniques to address risk behavior prior to surgery. Both groups received care as usual. Usability (System Usability Scale), change in risk behaviors 3 days prior to surgery, and functional recovery 30 days after discharge from hospital (Patient-Reported Outcomes Measurement Information System physical functioning 8-item short form) were assessed using online questionnaires. Quantitative data were analyzed using descriptive statistics, chi-square tests, and multivariable linear regression. Semistructured interviews about the usability of the app were conducted with 12 participants in the intervention group. Thematic analysis was used to analyze qualitative data. RESULTS: Seventy-nine people-40 in the intervention group and 39 in the control group-were available for further analysis. Participants had a median age of 61 (interquartile range 51.0-68.0) years. The System Usability Scale showed that patients considered the Be Prepared app to have acceptable usability (mean 68.2 [SD 18.4]). Interviews supported the usability of the app. The major point of improvement identified was further personalization of the app. Compared with the control group, the intervention group showed an increase in self-reported physical activity and muscle strengthening activities prior to surgery. Also, 2 of 2 frequent alcohol users in the intervention group versus 1 of 9 in the control group drank less alcohol in the run-up to surgery. No difference was found in change of smoking cessation. Between-group analysis showed no meaningful differences in functional recovery after correction for baseline values (β=-2.4 [95% CI -5.9 to 1.1]). CONCLUSIONS: The Be Prepared app prototype shows potential in terms of usability and changing risk behavior prior to major surgery. No preliminary effect of the app on functional recovery was found. Points of improvement have been identified with which the app and future research can be optimized. TRIAL REGISTRATION: Netherlands Trial Registry NL8623; https://www.trialregister.nl/trial/8623

Professional competences to promote healthy ageing across the lifespan: a scoping review

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Lymph node regression after neoadjuvant chemoradiotherapy in rectal cancer

Aims: Lymph node metastases (LNM) are one of the most important prognostic indicators in solid tumours and a major component of cancer staging. Neoadjuvant therapy might influence nodal status by induction of regression. Our aim is to determine the prevalence and role of regression of LNM on outcomes in patients with rectal cancer. Methods and results: Four independent study populations of rectal cancer patients treated with similar regimens of chemoradiotherapy were pooled together to obtain a total cohort of 469 patients. Post-treatment nodal status (ypN) and signs of tumour regression (Reg) were incorporated to form three-tiered (ypN− Reg+, ypN− Reg− and ypN+) and four-tiered (ypN− Reg+, ypN− Reg−, ypN+ Reg+ and ypN+ Reg−) classifications. In our cohort, 31% of patients presented with ypN+ rectal cancer. As expected, we found significantly worse overall survival (OS) in ypN+ patients compared to ypN− patients (P = 0.002). The percentage of ypN− patients with lymph nodes with complete regression was 20% in our cohort. While node-negative patients with and without regression had similar OS (P = 0.09), disease-free survival (DFS) was significantly better in node-negative patients with regression (P = 0.009). Conclusions: Regression in lymph nodes is frequent, and node-negative patients with evidence of lymph node regression have better DFS compared to node-negative patients without such evidence.</p