Adults with plexiform neurofibromas arising from neurofibromatosis type 1 (NF1-PN) experience a multifaceted range of clinical symptoms and manifestations, which can impact multiple organ systems and reduce quality of life (QoL). This qualitative study aimed to better understand the experiences of adults and caregivers of adults with NF1-PN and their perspectives on treatment, challenges, and unmet needs across several geographic regions.

Web-assisted telephone interviews were conducted between January 31, 2024, and April 15, 2024, with adults who had a diagnosis of NF1-PN or with caregivers, focusing on diagnosis, interactions with healthcare professionals (HCPs), transition of care, pain management, and unmet needs. Participants were recruited through HCP referrals, patient organizations, or patient databases.

The study included 65 patients with NF1-PN and 14 caregivers in Canada, China, France, Germany, Italy, Japan, Spain, and the UK. Patients reported living with multiple NF1-PN-associated morbidities, including pain, disfigurement, psychiatric disorders, and chronic migraines. NF1-PN impacted daily living from childhood to adulthood and affected relationships and mental and emotional health. Surgery (~50%) and pain medications (~40%) were the most common treatments; nearly all participants (~90%) mentioned the need for disease-modifying treatments. Most patients (~85%) diagnosed as children transitioned to adult care, although there was variability in the transition experience. Some patients (~10%) dropped off during transition; others (~10%) experienced difficulty adjusting to adult specialists.

The real-life perspectives of adult patients and caregivers highlighted that NF1-PN has a profoundly negative impact on QoL and mental health. At the time of the study, the only available treatments for this patient population were surgery or medications for symptom management. Participants identified unmet needs, such as a desire for improved treatment options that halt disease progression and reduce pain while being noninvasive, convenient, and accessible. Improved processes for the transition to adult care are needed.

Eating disorders and obesity are severe health conditions arising from an impaired body weight regulation. Both are strongly influenced by genetic factors. Accordingly, obesity can be broadly classified as either monogenic, caused by mutations in a single gene, or polygenic, resulting from the cumulative effects of numerous variants, each exerting modest effects on body weight. Although the genetic architecture of obesity is relatively well characterized, novel mutations underlying monogenic obesity are still being uncovered, and the mechanisms linking polygenic variants to the phenotype are not fully elucidated. In contrast, the genetic basis of eating disorders is considerably less well understood. Among these, anorexia nervosa has been the most intensively studied, with several genomic regions already associated with disease susceptibility. The present review summarizes the current knowledge about the genetics of obesity and anorexia nervosa, highlighting shared and distinct mechanisms and discusses emerging research directions.

The field of neuromuscular and neurodegenerative diseases has been revolutionized by the advent of genetics and molecular biology to evaluate the pathogenicity, thereby providing considerable insight to develop suitable therapies. With the successful translation of antisense oligonucleotides (AOs) from in vitro into animal models and clinical practice, modifications are being continuously made to the AOs to enhance their pharmacokinetics and pharmacodynamics. In order to activate RNase H1-mediated cleavage of the target mRNA, as well as to increase the binding affinity and specificity, gapmer AOs are designed with a central DNA gap, often with a phosphorothioate (PS) backbone, flanked with the modified AOs on both sides that improve stability and binding affinity. Antisense-mediated knockdown of mutated huntingtin is a promising therapeutic approach for Huntington's disease (HD), a devastating disorder affecting motor and cognitive abilities. This chapter focuses on the modified gapmer AOs for the treatment of HD.

Moral injury refers to enduring moral, relational, existential, and spiritual suffering that may follow experiences perceived as violating deeply held moral commitments. This philosophical and conceptual study examines whether the moral psychology of Abū Ḥāmid Al-Ghazālī (1058-1111) can provide a complementary framework for understanding moral wounding and spiritual repair, with Indonesia treated as a context of potential application rather than an empirically validated setting. The analysis uses purposive conceptual synthesis and close reading of selected books of Iḥyā' 'Ulūm al-Dīn, especially The Marvels of the Heart, On Disciplining the Soul, On Repentance, Fear and Hope, and On Vigilance and Self-Examination, in dialogue with contemporary scholarship on moral injury, Islamic psychology, religion, and spiritual care. The synthesis suggests that moral injury can be interpreted, within a Ghazālian anthropology, as a disturbance in the moral orientation of the qalb involving responsibility, self-condemnation, alienation, and rupture in relationships with God, self, and community. Spiritual repair is conceptualized as an iterative movement among truthful moral recognition, proportionate responsibility, nadam, tawba, reparative action, divine mercy, renewed rajā', and relational reintegration. In Indonesia, the framework has potential relevance because religious and spiritual meanings remain salient in mental healthcare and Ghazālian moral-spiritual ideas retain resonance within some pesantren settings. The framework is hypothesis-generating: it is not proposed as a substitute for psychological treatment or as a clinical protocol, but as a culturally and theologically grounded vocabulary for future research and carefully assessed spiritually integrated care among Muslim populations.

Depression prevalence varies across and within geographical regions, with contextual factors potentially playing a relevant role. Therefore, we assessed how informative a postcode-based data linkage approach is to study the association between contextual factors and depressive symptoms in Germany.

In this cross-sectional study, we linked individual-level survey data from a multi-setting clinical sample (n = 2,323) with population-level routine data from two different German datasets to assess depression severity. Contextual data included area-level deprivation, civic participation, population structure and the built environment.

Including contextual factors in the models increased their model fit (AICc Model 2 = 13,640.80) compared to the demographic factors-only model (AICc Model 1 = 13,718.24; Δ AICc = 77.18). Assessing each contextual factor alone revealed that area-level deprivation yielded the most parsimonious fit.

The data linkage approach is a technically viable and resource-friendly approach within the German mental health research infrastructure. In this multi-setting clinical sample, incorporating objective contextual variables improved the models. However, choosing the appropriate spatial resolution is essential, as coarse aggregation may obscure meaningful contextual associations with depression severity. To ensure the linkage is meaningful, administrative indicators must be carefully chosen based on existing literature to guarantee they are proxies of environmental factors that are associated with mental health.

ObjectivePrevious research has shown disruptions in parent-infant interactions and child cognition for families affected by cleft lip. This study assessed the impact of Video Feedback Treatment (VFT) vs. an active treatment control condition on these outcomes for children with cleft lip (CL) (with or without cleft palate) (CL ± P).DesignMulti-centre, parallel group, randomised controlled trial.SettingParticipants were recruited from 4 National Health Service (NHS) Cleft Centres in the UK.ParticipantsSixty-six parents of infants with CL ± P and without other serious medical conditions.InterventionThirty-two participants were allocated to the VFT group; thirty-four participants were allocated to an active control group - Support, Information and Advice (SIA). Parents in both groups received 6 home visits from a therapist from 1 week postpartum at approximately weekly intervals.Main Outcome MeasuresParental sensitivity (Global Rating Scale) in parent-infant interactions at 11 weeks, and infant cognitive performance (BSID-III) at 18 months.ResultsThere were no differences between VFT and SIA groups on the primary outcomes. Parent-infant interactions and infant cognitive outcomes in both VFT and SIA groups approached those for nonaffected populations and were better than those in previously reported, non-treated populations with CL ± P.ConclusionsThere were no differences between the 2 treatment groups for the main outcomes. The lack of a no-intervention control group precludes conclusions regarding treatment efficacy.

PurposeTo assess the feasibility and acceptability of the "Naru" Program, a Reiki-informed meditative intervention for first-year nursing students, and to estimate pre-post change in distress and well-being.DesignSingle-group pretest-posttest pilot feasibility study.MethodsInformed by Transitions Theory and holistic nursing, a seven-session hybrid program combined the spiritual precepts of Reiki with Joshin Kokyu Ho breathing meditation and guided imagery; five mental health nurses appraised its content. Of 413 students invited, 61 were screened, 29 eligible, 22 started, and 12 completed. Feasibility outcomes were uptake, retention, adherence, and acceptability; distress and well-being were assessed with the Depression Anxiety Stress Scales - 21 and the Psychological Well-Being Manifestation Measure Scale, with Wilcoxon signed-rank tests.FindingsThe program was delivered as designed and well received: participants reproduced the meditation independently, some during clinical placements. Uptake was 14.8% and retention 54.5%; attrition concentrated at year-end. Distress decreased and well-being increased on all retained subscales, with large effect sizes and bootstrap intervals excluding zero for all but one measure; reliable improvement was most frequent in well-being and happiness.ConclusionsDelivery and acceptability were established; recruitment and retention were not, and require changes to timing and recruitment before a controlled trial. Efficacy cannot be inferred.

Identify factors influencing retention and attrition among advanced clinical practitioners working in emergency care in the United Kingdom and explore how practitioners experience career sustainability.

A convergent parallel mixed-methods study.

A national online questionnaire was completed by 320 EC-ACPs. Quantitative data were analysed descriptively using exploratory regression analyses. Free-text responses (n = 300) were analysed using reflexive content analysis. Semi-structured interviews were conducted with 12 ACPs who had left EC and analysed using reflexive thematic analysis. Quantitative and qualitative findings were integrated to examine convergence, complementarity and divergence.

Fewer than half of respondents intended to remain in EC over the next 5 years (45%, n = 143), 36% (n = 116) were uncertain and 19% (n = 61) intended to leave. Having a defined career pathway was associated with intention to remain (p = 0.029), perceived lack of support for career development was associated with reduced retention intention (p < 0.001) and poorer self-reported mental wellbeing (p < 0.001). Extended sickness absence was associated with reduced intention to remain (p = 0.037). In contrast, credentialing was not associated with retention intention (p = 0.434). Qualitative findings contextualised these associations, identifying career stagnation, burnout, organisational devaluation, unsustainable working patterns and professional identity ambiguity. Despite these pressures, practitioners described strong attachment to EC and advanced practice, with portfolio working and role diversification as potential strategies for sustaining participation.

EC-ACP retention appears to be associated with potentially modifiable organisational conditions, particularly career development, organisational support and sustainable role design. Commitment to EC can coexist with uncertainty about remaining, suggesting that attrition should not be interpreted as a loss of professional commitment.

Retention strategies should extend beyond recruitment and individual resilience initiatives to include credible post-credentialing career pathways, professional recognition, supervision, sustainable rostering and opportunities for flexible or portfolio working. These approaches may help experienced ACPs remain engaged in EC across different career stages.