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Purpose: Examining a cohort of patients suspicious of neurofibromatosis type 1 (NF1) we compared the revised diagnostic criteria with the previous National Institutes of Health (NIH) diagnostic criteria. We asked whether the refinement improved distinguishing between NF1, Legius syndrome, and constitutional mismatch repair deficiency (CMMRD)., Methods: A database search in the hospital information system of the University Children's Hospital Augsburg between 2017 and 2020 ascertained patients with International Classification of Diseases-10 code Q85.0; their clinical phenotype was evaluated by retrospective chart review., Results: A total of 75 patients were identified (median age 11.0 years [range 1.1-22.6 years]; 35 female). At first suspicion of NF1, 44 patients met the NIH criteria and 56 met the revised diagnostic criteria. In total, 12 patients were diagnosed with NF1 after performing molecular genetic testing. In 31 patients, only pigmentary findings were present, whereas nonpigmentary NF1 manifestations presented with time in 9 patients. In 1 patient a heterozygous variant of uncertain significance was identified in SPRED1. Requirements for CMMRD testing were fulfilled in another patient. A total of 3 patients presented with segmental clinical findings. Three additional patients did not meet the NIH criteria, 1 of them presented with 1 additional feature of CMMRD without fulfilling requirements for testing., Conclusion: In our pediatric cohort, the revised diagnostic criteria discovered more patients with proven NF1 than the NIH criteria., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Expert recommendations for the management of tumor surveillance in children with a variety of cancer predisposition syndromes (CPS) are available. We aimed (1) at identifying and characterizing children who are affected by a CPS and (2) at comparing current practice and consensus recommendations of the American Association for Cancer Research workshop in 2016. We performed a database search in the hospital information system of the University Children's Hospital for CPS in children, adolescents, and young adults and complemented this by review of electronic patients' charts. Between January 1, 2017, and December 3, 2019, 272 patients with 41 different CPS entities were identified in 20 departments (144 [52.9%] male, 128 [47.1%] female, median age 9.1 years, range, 0.4-27.8). Three (1.1%) patients died of non-malignancy-associated complications of the CPS; 49 (18.0%) patients were diagnosed with malignancy and received regular follow-up. For 209 (95.0%) of the remaining 220 patients, surveillance recommendations were available: 30/220 (13.6%) patients received CPS consultations according to existing consensus recommendations, 22/220 (10.0%) institutional surveillance approaches were not complying with recommendations, 84/220 (38.2%) patients were seen for other reasons, and 84/220 (38.2%) were not routinely cared for. Adherence to recommendations differed extensively among CPS entities., Conclusion: The spectrum of CPS patients at our tertiary-care children's hospital is manifold. For most patients, awareness of cancer risk has to be enhanced and current practice needs to be adapted to consensus recommendations. Offering specialized CPS consultations and establishing education programs for patients, relatives, and physicians may increase adherence to recommendations., What Is Known: • A wide spectrum of rare syndromes manifesting in childhood is associated with an increased cancer risk. • For many of these syndromes, expert recommendations for management and tumor surveillance are available, although based on limited evidence., What Is New: • Evaluating current practice, our data attest significant shortcomings in tumor surveillance of children and adolescents with CPS even in a tertiary-care children's hospital. • We clearly advocate a systematic and consistent integration of tumor surveillance into daily practice., (© 2021. The Author(s).)

Purpose: The purpose of this study was to analyze the projects submitted to the ITI International Team for Implantology for funding and the scientific publications ensuing from these projects, over a period of 30 years., Materials and Methods: This analysis was performed based on information available in the database of the ITI. For each project, data related to institution, country of origin, and grant status (financed or rejected) were extracted. For the financed projects, the grant amount and number of publications were recorded. Publications were searched independently by two investigators. For all publications, the study topic, study design, and citation number were recorded., Results: From a total of 1,372 submitted projects from 51 different countries and 308 different institutions, 514 (37.46%) were financed by the ITI. This amounts to more than CHF 52 million invested in favor of implant dentistry and related fields. A total of 552 publications (including original research and reviews) were identified related to these projects, with the majority being in vitro studies (n = 198), and the most common topic researched was implant surface modification (n = 134). The United States was the country and the University of Bern was the institution with the largest number of financed projects and published papers., Conclusion: This analysis revealed that the ITI has been actively supporting research in the field of implant dentistry and related areas globally. Several concepts in present-day implantology are based on literature from ITI-funded projects.

This study investigated the self-image of individuals who donate bone marrow to strangers as part of the National Marrow Donor Program. Quantitative surveys were administered to donors before donating (N = 849), shortly after donating (N = 754), and a year after donating (N = 370). In addition, 52 donors were interviewed in-depth by telephone at the same three points in time. Many of these donors felt that by donating bone marrow they were actualizing a central trait in their identity. Thus, many donors believed that they were distinct from others in the centrality of the traits of helpfulness and generosity to their identities. This belief often stemmed from a strong emphasis on helping in their families of origin. Other qualities activated by donation included religious identity, being a helping professional, and desire to be a role model. Self-evaluation appeared to have been enhanced for some donors due to the donation.

In this study, we investigated the psychosocial effects of unrelated marrow donation. Survey questionnaires were administered pre-donation, shortly post-donation, and 1 year post-donation to all donors through the National Marrow Donor Program over a 3-year period. Univariate, bivariate, and multivariate analyses were then performed. Donors were generally quite positive about the donation 1 year post-donation: 87% felt it was "very worthwhile" and 91% would be willing to donate again in the future. Marrow donors were more likely than kidney donors to feel better about themselves as a result of the donation (P < .001). Donors with longer collection times, in general, had less positive psychosocial outcomes from the donation. Donors who experienced lower back pain or difficulty walking as a result of the donation were more likely to experience the donation as more stressful and painful than expected, but no more likely to experience it as less positive emotionally than donors who did not experience these side effects.