Amblyopia and strabismus are associated with a reduced health-related quality of life in children. This study aimed to investigate whether there is a relationship between amblyopia or strabismus and mental distress (depression, anxiety disorder), as well as differences in psychosocial characteristics. The Gutenberg Health Study is a population-based cohort study in Mainz, Germany, with 15,010 participants aged 35–74. The prevalence of depression and anxiety, and the presence of psychosocial characteristics were examined in individuals with and without strabismus or amblyopia. Logistic regression analyses were conducted to calculate associations. 14,431 individuals were included in the analysis for strabismus, of which 355 had a squint. The socioeconomic status was lower in individuals with strabismus (12.0 vs. 13.0, p = 0.01), and a higher percentage had a secondary school diploma (43.1
Uterine mesenchymal neoplasms comprise a heterogeneous group of tumours with distinct morphological and molecular features. High-grade endometrial stromal sarcomas (HG-ESS) are typically defined by YWHAE::NUTM2 or BCOR alterations; however, a subset lacks these canonical rearrangements. We report a 59-year-old woman with a HG-ESS-like uterine mesenchymal neoplasm, composed of atypical oval cells with infiltrative growth, brisk mitotic activity, and tumour necrosis. Immunohistochemistry showed diffuse SMA and p16 expression with partial CD10 and cyclin D1 positivity while ER, PR, desmin, ALK, and panTRK were negative. RNA sequencing identified an AKAP9 exon 8 to BRAF exon 9 fusion, but no canonical ESS-associated rearrangements or additional alterations (including p53). This finding expands the molecular spectrum of uterine mesenchymal neoplasms and defines a novel kinase-driven subset. The BRAF fusion indicates MAPK pathway activation and raises the possibility of a distinct entity or a novel pathogenetic pathway in HG-ESS, with potential therapeutic implications.
Background: Enhanced Recovery After Surgery (ERAS) protocols improve postoperative outcomes and promote multidisciplinary, evidence-based perioperative care. However, ERAS adoption in gynecological departments remains inconsistent, and the underlying implementation challenges are poorly understood. Objective: To identify key barriers, facilitators, and preferred implementation strategies influencing ERAS adoption in German gynecological departments, and to assess whether clinicians' ERAS knowledge or institutional certification shapes these perceptions. Methods: We conducted a nationwide, web-based cross-sectional survey of gynecologic clinicians in Germany. The questionnaire assessed ERAS-related knowledge, current implementation status, and perceived barriers, facilitators, and strategies. Statistical analyses included equality of proportions tests, logistic regression, and internal consistency measurement. Results: A total of 116 clinicians participated; 66 provided data on barriers and 64 on facilitators and strategies. Only 37.9% reported routine ERAS use. The most frequently identified barriers were limited ERAS knowledge (40.9% "very important") and insufficient personnel resources (40.9%). The strongest facilitators were improved patient well-being, reduced morbidity, and higher patient satisfaction (each >60% "very important"). High-impact implementation strategies included informational materials, workshops, and online training. Well-informed clinicians had significantly higher odds of reporting a positive professional impact of ERAS (OR = 9.0, p = 0.001). Conclusions: ERAS implementation in gynecological settings remains restricted by staff knowledge gaps and personnel limitations. Patient-centered benefits and interactive educational strategies serve as powerful facilitators. Enhanced staff education and multidisciplinary support structures may substantially improve ERAS uptake and contribute to greater professional satisfaction among clinicians.
In 2018, the International Niemann-Pick Disease Alliance (INPDA) and the International Niemann-Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann-Pick disease type C (NPC)-an ultra-rare, autosomal recessive, neurovisceral lysosomal disorder. Since then, advances in diagnostics, care, and the approval of two novel disease-modifying agents have underscored the need to revise these guidelines to ensure safe, consistent, and high-quality care for those affected by NPC. In response, the INPDA and INPDR convened a multidisciplinary Guidelines Development Group (GDG) comprising individuals with NPC expertise from 14 countries across five continents, representing a broad range of specialties, as well as patients and families involved in NPC care. Informed by a comprehensive literature review and two meetings, the GDG systematically reviewed, revised, and updated the 2018 guideline statements, re-evaluating the level of evidence, strength of recommendations, and expert agreement for each. The resulting 2025 consensus clinical management guidelines constitute a timely, up-to-date, and internationally applicable resource for the diagnosis, treatment, and holistic management of individuals with NPC. These guidelines serve as a critical resource for specialist centers, hospital-based medical teams, staff involved in NPC patient care, family physicians and other primary caregivers, and, importantly, patients and their families.
BackgroundAdolescents and young adults with rare endocrine conditions face significant challenges during the transition from paediatric to adult healthcare systems. Despite increasing awareness, unstructured transitional care is frequent across Europe and is linked to adverse health outcomes, reduced adherence, and loss to follow-up. ObjectiveThis study aimed to map existing models of care and identify key barriers and needs that could inform the development of standardised tools and recommendations to support improved transition processes within the European Reference Network on Rare Endocrine Conditions (Endo-ERN) framework. MethodsA cross-sectional, web-based survey was developed and disseminated by the ‘Transition of Care’ Working Group. The questionnaire comprised 31 items across 10 thematic domains and targeted both Endo-ERN and non-affiliated centres. Responses were collected between January and March 2025. Statistical and qualitative thematic analyses were performed. ResultsA total of 111 responses were analysed from 80 centres across 21 European countries. Findings revealed marked heterogeneity in transition models, use of protocols, and availability of psychological support. Only about half of the centres reported shared paediatric–adult visits, and over one-third lacked follow-up strategies. E-health tools were underutilised despite expressed interest. A significant proportion of participants reported limited access to transition coordinators and heterogeneous privacy and data protection practices, highlighting concerns regarding General Data Protection Regulation (GDPR) compliance. ConclusionThe study underscores the need for standardised, patient-centred models of transitional care for rare endocrine conditions across Europe. Findings will inform the creation of harmonised tools and protocols to guide multidisciplinary collaboration and improve long-term outcomes. Plain language summaryYoung people with rare endocrine conditions often struggle when moving from child to adult healthcare. We surveyed centres across Europe and found large differences in how this process is organised. Our findings highlight the need for clearer plans, better coordination, and tools to support a safer and more consistent transition for all patients.
