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BRCA1/2-mutation carriers are at high risk of breast cancer (BC) and ovarian cancer. Physical inactivity, overweight (body mass index ≥25, BMI), smoking, and alcohol consumption are jointly responsible for about 1 in 4 postmenopausal BC cases in the general population. Limited evidence suggests physical activity also increases BC risk in BRCA1/2-mutation carriers. Women who have children often reduce physical activity and have weight gain, which increases BC risk. We assessed aforementioned lifestyle factors in a cohort of 268 BRCA1/2-mutation carriers around childbearing age (born between 1968 and 1983, median age 33 years, range 21-44). Furthermore, we evaluated the effect of having children on physical inactivity and overweight. Carriers were asked about lifestyle 4-6 weeks after genetic diagnosis at the Familial Cancer Clinic Nijmegen. Physical inactivity was defined as sports activity fewer than once a week. Carriers were categorized according to the age of their youngest child (no children, age 0-3 years and ≥4 years). In total, 48% of carriers were physically inactive, 41% were overweight, 27% smoked, and 70% consumed alcohol (3% ≥8 beverages/week). Physical inactivity was 4-5 times more likely in carriers with children. Overweight was not associated with having children. Carriers with children are a subgroup that may specifically benefit from lifestyle support to reduce BC risk. [ABSTRACT FROM AUTHOR]

Background: Clinical quality registries (CQR) aid in measuring, collecting and monitoring outcome data but it is still unknown how these data are used by hospitals to improve the quality of care. This study assessed the current state of outcome-based quality improvement in the Netherlands in 2022 based on data from multiple disease areas and CQRs; cardiothoracic surgery (Netherlands Heart Registration [NHR]), cardiology (NHR), nephrology, (Nefrovision), intensive care (National Intensive Care Evaluation [NICE]), and orthopaedic surgery (Dutch Arthroplasty Register [LROI])., Methods & Results: The Health Outcomes Management Evaluation (HOME) model was used to assess the current state of outcome-based quality improvement. A questionnaire with 36 questions was sent to healthcare departments of the six disease areas in participating hospitals within five quality registrations in the Netherlands. In total, 124 responses were received; 20 within cardiology, 12 within cardiothoracic surgery, 30 within nephrology, 35 within intensive care and 27 within orthopaedic surgery. Results showed outcome measures were actively used to improve the quality of care, several improvement initiatives were implemented, but outcomes were not always monitored regularly. Results differed between hospitals, but differences were limited between disease areas., Conclusion: The current state of outcome-based quality improvement in all five disease areas is that outcome measures were consequently employed and used on a frequent basis aiming to achieve quality improvement in healthcare. Results can be improved by structurally embedding the entire improvement cycle into the organisation., (© 2024. The Author(s).)

This paper presents an overview of the development of an integrated patient-centred cardiac care registry spanning the initial 5 years (September 2017 to December 2022). The Netherlands Heart Registration facilitates registration committees in which mandated cardiologists and cardiothoracic surgeons structurally evaluate quality of care using real-world data. With consistent attendance rates exceeding 60%, a valuable network is supported. Over time, the completeness level of the registry has increased. Presently, four out of six quality registries show over 95% completeness in variables that are part of the quality policies of cardiology and cardiothoracic surgery societies. Notably, 93% of the centres voluntarily report outcomes related to open heart surgery and (trans)catheter interventions publicly. Moreover, outcomes after implantable cardioverter-defibrillator and pacemaker procedures are transparently reported by 26 centres. Multiple innovation projects have been initiated by the committees, signalling a shift from publishing outcomes transparently to collaborative efforts in sharing healthcare processes and investigating improvement initiatives. The next steps will focus on the entire pathway of cardiac care for a specific medical condition instead of focusing solely on the outcomes of the procedures. This redirection of focus to a comprehensive assessment of the patient pathway in cardiac care ultimately aims to optimise outcomes for all patients., (© 2024. The Author(s).)

Introduction: Meta-analyses show postive effects of telemedicine in heart failure (HF) management on hospitalisation, mortality and costs. However, these effects are heterogeneous due to variation in the included HF population, the telemedicine components and the quality of the comparator usual care. Still, telemedicine is gaining acceptance in HF management. The current nationwide study aims to identify (1) in which subgroup(s) of patients with HF telemedicine is (cost-)effective and (2) which components of telemedicine are most (cost-)effective., Methods and Analysis: The RELEASE-HF ('REsponsible roLl-out of E-heAlth through Systematic Evaluation - Heart Failure') study is a multicentre, observational, registry-based cohort study that plans to enrol 6480 patients with HF using data from the HF registry facilitated by the Netherlands Heart Registration. Collected data include patient characteristics, treatment information and clinical outcomes, and are measured at HF diagnosis and at 6 and 12 months afterwards. The components of telemedicine are described at the hospital level based on closed-ended interviews with clinicians and at the patient level based on additional data extracted from electronic health records and telemedicine-generated data. The costs of telemedicine are calculated using registration data and interviews with clinicians and finance department staff. To overcome missing data, additional national databases will be linked to the HF registry if feasible. Heterogeneity of the effects of offering telemedicine compared with not offering on days alive without unplanned hospitalisations in 1 year is assessed across predefined patient characteristics using exploratory stratified analyses. The effects of telemedicine components are assessed by fitting separate models for component contrasts., Ethics and Dissemination: The study has been approved by the Medical Ethics Committee 2021 of the University Medical Center Utrecht (the Netherlands). Results will be published in peer-reviewed journals and presented at (inter)national conferences. Effective telemedicine scenarios will be proposed among hospitals throughout the country and abroad, if applicable and feasible., Trial Registration Number: NCT05654961., Competing Interests: Competing interests: JB received an independent research grant from Abbott for ISS paid to institution, and has had speaker engagements or advisory boards for AstraZeneca, Abbott, Bayer, Boehringer, Daiichi Sankyo, Novartis and Vifor in the past 5 years. RAdB has received research grants and/or fees from AstraZeneca, Abbott, Boehringer Ingelheim, Cardior Pharmaceuticals, Ionis Pharmaceuticals, Novo Nordisk and Roche, and has had speaker engagements with Abbott, AstraZeneca, Bayer, Bristol Myers Squibb, Novartis and Roche. CJWB has received speaker fees from AstraZeneca, Boehringer Ingelheim and Novartis. MLH is supported by the Dutch Heart Foundation (Dr E Dekker Senior Clinical Scientist Grant 2020T058) and CVON (2020B008 RECONNEXT). He received an investigator-initiated research grant from Vifor Pharma, an educational grant from Boehringer Ingelheim and Novartis, and speaker/consultancy fees from Abbott, AstraZeneca, Bayer, Boehringer Ingelheim, MSD, Novartis, Sankyo, Daiichi, Quinn and Vifor Pharma, all of which were not related to this study., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY. Published by BMJ.)

Introduction: Binge eating (BE) behaviour is highly prevalent in adolescents, and can result in serious metabolic derangements and overweight in the long term. Weakened functioning of the behavioural inhibition system is one potential pathway leading to BE. Food cue exposure focusing on expectancy violation (CE EV ) is a short intervention for BE that has proven effective in adults but has never been tested in adolescents. Thus, the current randomised pilot trial evaluates the feasibility of CE EV for adolescents and its efficacy in reducing eating in the absence of hunger (EAH) of binge food items., Methods and Analysis: The trial will include N =76 female adolescents aged between 13 and 20 years with a diagnosis of bulimia nervosa, binge eating disorder (BED) or their subthreshold forms based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). Participants will be randomly assigned to two sessions of CE EV or behavioural analysis (BA), a classical cognitive-behavioural therapy-based intervention. The primary endpoint is the change in EAH measured according to ad libitum consumption of personally preferred binge food in a bogus taste test at post-test based on the intention-to-treat population. Key secondary endpoints are changes in EAH of standardised binge food at post-test, in EAH at 3-month follow-up (FU) and in food craving after induction of food cue reactivity at post-test and FU. To identify further valid outcome parameters, we will assess effects of CE EV compared with BA on global ED psychopathology, BE frequency within the last 28 days, body weight, response inhibition and emotion regulation abilities. Treatment groups will be compared using analysis of covariance with intervention as fixed factor and body mass index at baseline as covariate., Ethics and Dissemination: This clinical trial has been approved by the Ethics Review Committee of the Medical Association of Rhineland-Palatinate and the Medical Faculty of the Ruhr-University Bochum. The collected data will be disseminated locally and internationally through publications in relevant peer-reviewed journals and will be presented at scientific and clinical conferences. Participants data will only be published in an anonymised form., Trial Registration Number: DRKS00024009., Competing Interests: Competing interests: TL receives royalties for textbooks in the field of eating disorders from Hogrefe, Kohlhammer, Springer and De Gruyter as well as funding from the German Ministry of Education and Research (BMBF) for studies in the field of eating disorders and obesity. HP-vV receives royalties for a therapy manual for binge eating from Hogrefe. The other authors declare that they have no competing interests., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Aims: A group of heart centres in the Netherlands have been at the forefront internationally to implement the principles of value-based healthcare. This study aims to give an up-to-date assessment of outcome-based quality improvement in 2020 at a national level in Dutch heart care., Methods and Results: Physicians and healthcare professionals for each participating hospital filled out a questionnaire with 26 detailed questions on quality improvement and organization of care. In total, 20 hospitals participated; 11 heart centres with thoracic surgery and 9 without thoracic surgery. Results show that outcome reports are actively used within the heart centres to support quality improvement initiatives. In 50% of the centres, apart from physicians, also nurses and hospital management are involved. For 60% of the heart centres, outcome measurement is embedded in strategy and annual plans. The stage of development of supporting IT infrastructure (outcome measurement in the Electronic Health Record and dashboards) is very diverse. A wide range of different learning strategies supports outcome-based quality improvement., Conclusion: Health outcomes have become a relevant element in quality improvement and organization of Dutch heart centres. Earlier research shows that in 2012-2016 heart centres focused mainly on measuring outcomes. Now in 2020, heart centres are more able to actually use the acquired insights based on these measurements to initiate improvement projects. The diversity in how this is done indicates that this field is still strongly developing and shows potential for heart centres to share best practices in the implementation of value-based healthcare., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)

Background: In multiple studies, the potential relationship between daylight saving time (DST) and the occurrence of acute myocardial infarction (MI) has been investigated, with mixed results. Using the Dutch Percutaneous Coronary Intervention (PCI) registry facilitated by the Netherlands Heart Registration, we investigated whether the transitions to and from DST interact with the incidence rate of PCI for acute MI., Methods: We assessed changes in hospital admissions for patients with ST-elevation myocardial infarction (STEMI) or non-STEMI (NSTEMI) undergoing PCI between 1 January 2015 and 31 December 2018. We compared the incidence rate of PCI procedures during the first 3 or 7 days after the transition with that during a control period (2 weeks before transition plus second week after transition). Incidence rate ratio (IRR) was calculated using Poisson regression. Potential gender differences were also investigated., Results: A total of 80,970 PCI procedures for STEMI or NSTEMI were performed. No difference in incidence rate a week after the transition to DST in spring was observed for STEMI (IRR 0.95, 95% confidence interval (CI) 0.87-1.03) or NSTEMI (IRR 1.04, 95% CI 0.96-1.12). After the transition from DST in autumn, the IRR was also comparable with the control period (STEMI: 1.03, 95% CI 0.95-1.12, and NSTEMI: 0.98, 95% CI 0.91-1.06). Observing the first 3 days after each transition yielded similar results. Gender-specific results were comparable., Conclusion: Based on data from a large, nationwide registry, there was no correlation between the transition to or from DST and a change in the incidence rate of PCI for acute MI., (© 2021. The Author(s).)

Objectives: Legionella is a bacterial species able to cause influenza-like illness (Pontiac fever) or severe pneumonia (Legionnaires disease, LD). We assessed Legionella presence and concentration in composting facilities in The Netherlands., Methods: A total of 142 samples from 23 green waste composting facilities were screened for Legionella DNA using qPCR., Results: Of 142 samples, Legionella spp. DNA was detected in 97 (68%), and the subspecies L. pneumophila and L. longbeachae in 33 (23%) and one (0.7%) samples, respectively. Legionella was observed in samples from all composting facilities. The concentration of Legionella spp. DNA ranged from 10 3 to 10 5 genomic units (GU)/gram. Compost temperature was negatively correlated with the presence (odds ratio 0.67, 95% CI 0.50-0.92 per 10 degrees increase) and concentration (geometric mean ratio 0.90, 95% CI 0.83-0.97 per 10 degrees) of Legionella spp. Average humidity in the week prior to sampling was negatively correlated with the L. pneumophila concentration (geometric mean ratio 0.73, 95% CI 0.56-0.96 per increase in 10% of humidity)., Discussion: This study suggests that composting facilities can be regarded as reservoirs of Legionella in The Netherlands, but additional studies should target if such facilities represent a human health risk., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: High prevalence of drug use and injection-related risk behaviours have been reported among former Soviet Union (FSU)-migrants. To investigate hepatitis C (HCV) and HIV seroprevalence and related risk behaviours in this subgroup in Germany, we compared first generation FSU-migrants and native Germans using data from a sero-behavioural survey of people who inject drugs (PWID)., Methods: Current injectors were recruited using respondent-driven sampling in eight German cities in 2011-2014. Questionnaire-based interviews were conducted and dried blood spots collected and tested for anti-HCV, HCV-RNA, and anti-HIV1/2. Descriptive and multivariable analyses (MVA) were performed., Results: A total of 208 FSU-born and 1318 native German PWID were included in the analysis. FSU-migrants were younger than Germans (median age: 33 vs. 39 years), and more often male (83.1% vs. 75.9%, p = 0.022). HCV seroprevalence was 74.5% in FSU-migrants vs. 64.6% in Germans (p = 0.006), HIV seroprevalence was 5.8% and 4.6%, respectively (p = 0.443). The proportion of FSU-migrants reporting injecting-related risk behaviours was higher than among Germans: injecting daily (39.4% vs. 30.2%, p = 0.015), with friends (39.2% vs. 31.2%, p = 0.038), cocaine (32.7% vs. 23.8%, p = 0.044), more than one drug (18.2% vs. 9.6%, p = 0.006), and sharing filters/cookers (35.5% vs. 28.0%, p = 0.045). No statistically significant differences were observed in HIV/HCV testing rates (range: 50.7%-65.6%), opioid substitution treatment (43.9% vs. 50.5%), and access to clean needles/syringes (89.8% vs. 90.3%). In MVA, risk for HCV-infection was increased in male FSU-migrants compared to German males (OR 3.32, p = 0.006), no difference was identified between female FSU-migrants and German females (OR: 0.83, p = 0.633)., Conclusion: Male FSU-migrants were at highest risk of being HCV infected. Therefore, targeted actions are needed to ensure access and acceptance of harm reduction measures, including HCV-testing and -treatment for this subpopulation of PWID., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: Hearing loss and otitis media are frequently reported in patients with 22q11.2 deletion syndrome., Objective of Review: Our objective was to review the current literature on the prevalence of hearing loss and otologic manifestations in patients with 22q11.2 deletion syndrome., Type of Review: Systematic review., Search Strategy: We conducted a systematic search in PubMed and Embase combining the term "22q11.2 deletion syndrome" and synonyms with "hearing loss" and "otologic manifestations" and synonyms., Evaluation Method: We screened title/abstract and full text of all retrieved articles on pre-defined in- and exclusion criteria. The remaining articles were assessed on risk of bias. Outcome measures included the prevalence of hearing loss and otologic manifestations such as otitis media., Results: Our search yielded 558 unique studies of which a total of 25 articles were included for critical appraisal and data extraction. Twenty-one studies reported on hearing loss, and 21 studies on otologic manifestations. The prevalence of hearing loss varied from 6.0% to 60.3%, where in most studies conductive hearing loss was most prevalent. Rates of recurrent or chronic otitis media varied from 2.2% to 89.8%., Conclusion: Although a very broad range in prevalences is reported in different studies, hearing loss and recurrent or chronic otitis media are frequently present in patients with 22q11.2 deletion syndrome. Regular check-ups and audiometric testing are advised in these patients., (© 2017 John Wiley & Sons Ltd.)

Objectives: The objective of this study was to validate a Web-based questionnaire completed by the mother to assess perinatal outcome used in a prospective cohort study., Study Design and Setting: For 882 women with an estimated date of delivery between February 2012 and February 2015 who participated in the PRegnancy and Infant DEvelopment (PRIDE) Study, we compared data on pregnancy outcome, including mode of delivery, plurality, gestational age, birth weight and length, head circumference, birth defects, and infant sex, from Web-based questionnaires administered to the mothers 2 months after delivery with data from obstetric records. For continuous variables, we calculated intraclass correlation coefficients (ICCs) with 95% confidence intervals (CIs), whereas sensitivity and specificity were determined for categorical variables., Results: We observed only very small differences between the two methods of data collection for gestational age (ICC, 0.91; 95% CI, 0.90-0.92), birth weight (ICC, 0.96; 95% CI, 0.95-0.96), birth length (ICC, 0.90; 95% CI, 0.87-0.92), and head circumference (ICC, 0.88; 95% CI, 0.80-0.93). Agreement between the Web-based questionnaire and obstetric records was high as well, with sensitivity ranging between 0.86 (termination of pregnancy) and 1.00 (four outcomes) and specificity between 0.96 (term birth) and 1.00 (nine outcomes)., Conclusion: Our study provides evidence that Web-based questionnaires could be considered as a valid complementary or alternative method of data collection., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Context: Primary pigmented nodular adrenocortical disease (PPNAD) can lead to steroid hormone overproduction. Mutations in the cAMP protein kinase A regulatory subunit type 1A (PRKAR1A) are causative of PPNAD. Steroidogenesis in PPNAD can be modified through a local glucocorticoid feed-forward loop., Objective: Investigation of regulation of steroidogenesis in a case of PPNAD with virilization., Materials and Methods: A 33-year-old woman presented with primary infertility due to hyperandrogenism. Elevated levels of testosterone and subclinical ACTH-independent Cushing's syndrome led to the discovery of an adrenal tumor, which was diagnosed as PPNAD. In vivo evaluation of aberrantly expressed hormone receptors showed no steroid response to known stimuli. Genetic analysis revealed a PRKAR1A protein-truncating Q28X mutation. After adrenalectomy, steroid levels normalized. Tumor cells were cultured and steroidogenic responses to ACTH and dexamethasone were measured and compared with those in normal adrenal and adrenocortical carcinoma cells. Expression levels of 17β-hydroxysteroid dehydrogenase (17β-HSD) types 3 and 5 and steroid receptors were quantified in PPNAD, normal adrenal, and adrenal adenoma tissues., Results: Isolated PPNAD cells, analogous to normal adrenal cells, showed both increased steroidogenic enzyme expression and steroid secretion in response to ACTH. Dexamethasone did not affect steroid production in the investigated types of adrenal cells. 17β-HSD type 5 was expressed at a higher level in the PPNAD-associated adenoma compared with control adrenal tissue., Conclusion: PPNAD-associated adenomas can cause virilization and infertility by adrenal androgen overproduction. This may be due to steroidogenic control mechanisms that differ from those described for PPNAD without large adenomas.