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Competing Interests: Declarations. Ethics approval: This study was performed in line with the principles of the Declaration of Helsinki. The project was approved by the ethics committees at Charité – Universitätsmedizin Berlin (EA2/192/17) and the Medical Association of North Rhine (2017429). Consent to participate: Written informed consent was obtained from all individual participants included in the study. Consent to publish: Not applicable. Competing interests: The authors have no relevant financial or non-financial interests to disclose.

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed. Here, we perform integrated de novo and common-variant analyses using 1,469 CDH individuals, including 1,064 child-parent trios and 6,133 ancestry-matched, unaffected controls for the genome-wide association study. We identify candidate CDH variants in 15 genes, including eight novel genes, through deleterious de novo variants. We further identify two genomic loci contributing to CDH risk through common variants with similar effect sizes among Europeans and Latinx. Both loci are in putative transcriptional regulatory regions of developmental patterning genes. Estimated heritability in common variants is ∼19%. Strikingly, there is no significant difference in estimated polygenic risk scores between isolated and complex CDH or between individuals harboring deleterious de novo variants and individuals without these variants. The data support a polygenic model as part of the CDH genetic architecture., Competing Interests: Declaration of interests W.K.C. is on the Board of Directors of Prime Medicine. The authors declare no additional competing interests., (Copyright © 2024 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Background: Homeless patients in psychiatric hospitals are a scarcely studied and there is lack of knowledge about factors associated with homelessness and in-patient treatment., Aims: To determine the change over time in the number of homeless psychiatric in-patients and to examine factors associated with homelessness., Method: Retrospective data analysis of 1205 selected electronic patient files on psychiatric in-patient treatment in a university psychiatric hospital in Berlin, Germany. The rate of patients experiencing homelessness over a 13-year period (2008-2021) and the sociodemographic and clinical factors associated with homelessness are analysed over time., Results: Our study revealed a 15.1% increase in the rate of homeless psychiatric in-patients over the 13-year period. Of the whole sample, 69.3% people lived in secure private housing, 15.5% were homeless and 15.1.% were housed in sociotherapeutic facilities. Homelessness was significantly associated with being male (OR = 1.76 (95% CI 1.12-2.76), born outside of Germany (OR = 2.22, 95% CI 1.47-3.34), lack of out-patient treatment (OR = 5.19, 95% CI 3.35-7.63), psychotic disorders (OR = 2.46, 95% CI 1.16-5.18), reaction to severe stress (OR = 4.19, 95% CI 1.71-10.24), personality disorders (OR = 4.98, 95% CI 1.92-12.91), drug dependency (OR = 3.47, 95% CI 1.5-8.0) and alcohol dependency (OR = 3.57, 95% CI 1.67-7.62)., Conclusions: The psychiatric care system is facing an increasing number of patients in precarious social situations. This should be considered in resource allocation planning in healthcare. Individual solutions for aftercare, along with supported housing, could counteract this trend.

Background: Fragmented and complex healthcare systems make it difficult to provide continuity of care for patients with advanced cancer near the end of life. Nurse-based cross-sectoral navigation support has the potential to increase patients' quality of life. The objective of this paper was to evaluate associations between navigation support and health care utilization, and the associated costs of care., Methods: The evaluation is based on claims data from 37 statutory health insurance funds. Non-randomized recruitment of the intervention group (IG) took place between 2018 and 2019 in four German hospitals. The comparison group (CG) was defined ex post. It comprises nonparticipating clients of the involved health insurance funds matched on age, gender, and diagnosis in a 1:4 ratio to the IG. Healthcare resource utilization was compared using incident rate ratios (IRRs) based on negative binomial regression models. Linear mixed models were performed to compare differences in lengths of hospital stays and costs between groups., Results: A total of 717 patients were included (IG: 149, CG: 568). IG patients showed shorter average lengths of hospital stays (IG: 11 days [95% CI: 10, 13] vs. CG: 15 days [95% CI: 14, 16], p < 0.001). In the IG, 21% fewer medications were prescribed and there were on average 15% fewer outpatient doctor contacts per month. Average billed costs in the IG were 23% lower than in the CG (IG: 6754 EUR [95% CI: 5702, 8000] vs. CG: 8816 EUR [95% CI: 8153, 9533], p < 0.001)., Conclusions: The intervention was associated with decreased costs mainly as a result of a non-intended navigation effect. The social care nurses had navigated patients within the hospital early, needs-oriented and effectively but interpreted their function less cross-sectorally. Linkage of hospital-based navigators with the outpatient care sector needs further exploration., (© 2023 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Few studies and almost exclusively from the USA have recently investigated mobile phone and computer use among users of psychiatric services, which is of high relevance regarding the increasing development of digital health applications and services., Objective, Design and Setting: In a cross-sectional patient survey, we examined (a) rates and purposes of mobile phone, computer, internet and social media use, and (b) the role of social and clinical predictors on rates of utilisation among psychiatric inpatients in Berlin, Germany., Participants and Results: Descriptive analyses showed that among 496 participants, 84.9% owned a mobile phone and 59.3% a smartphone. Among 493 participants, 68.4% used a computer regularly. Multivariate logistic regression models revealed being homeless, diagnosis of a psychotic illness, being of older age and a lower level of education to be significant predictors for not owning a mobile phone, not using a computer regularly or having a social media account, respectively., Conclusions: Users of psychiatric services may have access to mobile phones and computers, although rates are lower than in the general population. However, key barriers that need to be addressed regarding the development of and engagement with digital health interventions are factors of social exclusion like marginalised housing as well as clinical aspects like psychotic illness., Competing Interests: Competing interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 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.)

This study aims to improve emergency department (ED) care for patients suffering from atraumatic abdominal pain. An application-supported pathway for the ED will be implemented, which supports quick, evidence-based, and standardized diagnosis and treatment steps for patients with atraumatic abdominal pain at the ED. A mixed-methods multicentre cluster randomized controlled stepped wedge trial design will be applied. A total of 10 hospitals with EDs (expected n = 2.000 atraumatic abdominal pain patients) will consecutively (every 4 months) be randomized to apply the intervention. Inclusion criteria for patients are a minimum age of 18 years, suffering from atraumatic abdominal pain and being insured with a German statutory health insurance. Primary outcomes: acute pain score at time of discharge from ED, duration of treatment at the ED, patient-reported satisfaction. Secondary endpoints include patient safety and quality of care parameters, process evaluation parameters, and costs and cost-effectiveness parameters. Quantitative data will be gathered from patient-surveys, clinical records, and routine data from hospital information systems as well as from a participating German statutory health insurance. Descriptive and analytic statistical analysis will be performed to provide summaries and associations for primary patient-reported outcomes, process measures, quality measures, and costs. Qualitative data collection consists of participatory patient observations and semi-structured expert interviews, which will be inductively analysed. Findings will be disseminated in publications in peer-reviewed journals, on conferences, as well as via a project website. To ensure data protection, appropriate technical and organisational measures will be taken. Trial registration: DRKS00021052., Competing Interests: The authors have declared that no competing interests exist.

Background: The concept of patient navigation was first established in the USA to support vulnerable patient groups in receiving timely and comprehensive access to cancer care. It has recently gained increasing interest in Germany to support patients with chronic diseases in a fragmented healthcare system. The aim of this paper is to present the development of such a model adapted to the German context based on the results of mixed-methods studies investigating the need for and barriers to patient-oriented care., Methods: In a process adapted from Delphi rounds, we conducted regular structured workshops with investigators of the project to discuss results of their studies and identify content and structure of the model based on the data. Workshop discussions were structured along seven core components of a navigation model including target patient groups, navigator tasks, occupational background and education of navigators, and patient-navigator interaction mode., Results: Using an approach based on empirical data of current care practices with special focus on patients' perspectives, we developed a patient-oriented navigation model for patients who have experienced stroke and lung cancer in the German healthcare context. Patients without personal social support were viewed as struggling most with the healthcare system, as well as multimorbid and elderly patients. Navigators should serve as a longer-term contact person with a flexible contact mode and timing based on the individual situation and preferences of patients. Navigator tasks include the provision of administrative and organizational support as well as referral and guidance to available resources and beneficial health programs with special forms of knowledge. Implementation of the navigator should be flexibly located to ensure a reliable outreach to vulnerable patients for first contact in settings like specialized in-patient and out-patient settings, while navigation itself focuses on care coordination in the out-patient setting., Conclusion: Flexibility of navigator tasks needed to be a core characteristic of a navigation model to be perceived as supportive from patients' perspectives. In a subsequent feasibility study, an intervention based on the model will be evaluated according to its acceptance, demand, and practicality., (© 2022. The Author(s).)