This article describes a framework to assist individuals and teams who prepare for (or are engaged in) health professions education innovations. The four essential elements are Needs Assessment, Planning, Implementation and Programme Evaluation. Each element is described in detail with a series of questions to contemplate, and to ensure that all key steps are sufficiently covered. While it is helpful to use this process at the beginning of a project, it will be necessary to develop a continuing cycle of reflection. Needs change and a rapid quality improvement cycle will help maintain relevance and thus effectiveness. It will promote dissemination to inspire educators at the same or other institutions. The four-element framework was developed by the ASPIRE-to-Excellence Award Panel and Academy Section for Innovative and Inspirational Approaches to Health Professions Education (I&I). Examples from 11 awardees from four continents are provided. They illustrate innovative and inspirational work that can stimulate more progress in the field.

Background/Objectives: Achondroplasia is the most common genetic skeletal dysplasia associated with disproportionate short stature and is primarily caused by gain-of-function variants in the fibroblast growth factor receptor 3 (FGFR3) gene. Constitutive FGFR3 activation disrupts growth plate homeostasis and endochondral ossification through complex alterations in chondrocyte proliferation, differentiation, hypertrophy, extracellular matrix organization, and intracellular signaling. The increasing understanding of these mechanisms has enabled the transition from exclusively supportive management toward disease-modifying and precision-based therapeutic strategies. This narrative review aimed to critically synthesize current evidence on the genetic basis, molecular pathogenesis, growth plate abnormalities, and current and emerging targeted therapies in achondroplasia. Methods: A narrative literature review was conducted using PubMed/MEDLINE, Scopus, and Web of Science Core Collection, with Google Scholar used as a supplementary source, together with manual screening of the reference lists of relevant original studies, clinical trials, reviews, consensus documents, and clinical guidelines. The principal literature search covered publications from January 2010 to March 2026, while selected seminal primary studies published before 2010 were included when necessary to document the original identification of pathogenic FGFR3 variants and foundational mechanisms of FGFR3-mediated growth plate regulation. Particular emphasis was placed on FGFR3 variants, receptor activation mechanisms, growth plate dysfunction, intracellular signaling pathways, vosoritide, C-type natriuretic peptide-based therapies, FGFR3 inhibitors, ligand–receptor blockade, drug repurposing, Wnt/β-catenin modulation, and gene-based therapeutic approaches. Results: Achondroplasia is characterized by marked molecular homogeneity, with the recurrent p.Gly380Arg substitution accounting for most cases. Mutant FGFR3 displays sustained activity through partial ligand independence, enhanced receptor dimerization and kinase activation, increased receptor stability, and reduced degradation. Excessive signaling through MAPK/ERK, STAT, PI3K/AKT, IHH/PTHrP, and related pathways impairs chondrocyte proliferation and hypertrophic differentiation, alters extracellular matrix turnover, disrupts primary cilium function, and reduces longitudinal bone growth. Vosoritide provides clinical proof that pharmacological modulation of FGFR3-related signaling can improve growth velocity. Additional therapeutic strategies under clinical or preclinical investigation include long-acting CNP analogues, selective FGFR inhibitors, decoy receptors, RNA aptamers, repurposed drugs, Wnt/DKK1 pathway modulation, and gene- or enhancer-targeted interventions. Conclusions: Achondroplasia is increasingly understood as a disorder of dysregulated growth plate signaling rather than solely a condition of reduced stature. Although vosoritide has established the feasibility of disease-modifying treatment, substantial uncertainty remains regarding final adult height, skeletal proportionality, cranio-spinal development, orthopedic outcomes, and long-term safety. Future progress will depend on mechanistically informed therapeutic combinations, improved biomarkers, advanced cellular and animal models, and long-term clinical and real-world evidence.

Background/Objectives: Motivational interviewing (MI) is an established approach to addressing vaccine hesitancy, yet immediate changes following dedicated training for family physicians remain insufficiently documented in Romania. This study evaluated pre–post changes in physicians’ MI knowledge, self-reported communication behaviour, and self-perceived ability to counsel patients about vaccination, together with patient-level change following consultations delivered by trained physicians. Methods: This uncontrolled pre–post study used a voluntary, self-selected non-probability sample of 28 family physicians recruited through announcements distributed via county family medicine associations; participants completed paired assessments immediately before and after structured MI-based training. The three main physician-level outcomes were MI knowledge (MISI), corrected self-reported MI communication behaviour (MIBI), and self-perceived MI ability (SPMI). The linked component comprised 151 patients nested within 15 physicians. Patient changes were averaged within physician, and the physician-level mean patient composite change was used as the principal outcome of this component. Paired physician changes and physician-aggregated patient change were assessed using Wilcoxon tests, rank-biserial effect sizes, and bootstrap 95% confidence intervals (CIs), with Holm adjustment across the three physician outcomes. Results: Mean MISI increased by 39.80 percentage points (95% CI: 29.59–50.51), though the limited internal consistency of this seven-item composite requires item-level interpretation, and corrected MIBI by 0.44 points (95% CI: 0.20–0.68; r_rb = 0.75) and SPMI by 1.22 points (95% CI: 0.89–1.61; r_rb = 0.99); all Holm-adjusted p-values were <0.001. Across the 15 linked physicians, the mean patient composite change was 0.55 points (95% CI: 0.38–0.75; r_rb = 1.00; p < 0.001). No consistent association was observed between physician-level competency changes and mean patient change. Conclusions: Immediate post-training physician scores and post-consultation patient composite scores were higher. Controlled studies incorporating observed consultations and follow-up are required before causal or sustained effects can be inferred.

Background/Objectives: Achondroplasia is the most common skeletal dysplasia and the leading genetic cause of disproportionate short stature. Although its biological basis involves gain-of-function variants in the FGFR3 gene, achondroplasia is a lifelong multisystem disorder associated with neurological, respiratory, orthopedic, otolaryngological, cardiovascular, oral, functional, and psychosocial complications. This narrative review aims to synthesize the evidence on developmental and adaptive functioning, age-specific healthcare needs, multidisciplinary service delivery, transition to adult care, psychosocial well-being, caregiver burden, and patient- and family-centered outcomes in achondroplasia across the lifespan. Methods: A narrative literature review was conducted using PubMed/MEDLINE, Scopus, Web of Science Core Collection, and CINAHL, with Google Scholar used as a supplementary source. Studies published between January 2010 and July 2026 were considered, together with earlier clinically relevant reports. Evidence addressing prenatal and postnatal diagnosis, age-specific manifestations, neurological and respiratory complications, orthopedic and otolaryngological care, cardiometabolic risk, growth monitoring, multidisciplinary management, transition to adult services, disease-modifying therapy, quality of life, and caregiver burden was evaluated. Results: The clinical priorities of achondroplasia change substantially across the lifespan. Infancy is characterized by an increased risk of foramen magnum stenosis, cervicomedullary compression, hypotonia, and sleep-disordered breathing, whereas orthopedic deformities, chronic pain, reduced mobility, spinal stenosis, hearing impairment, obesity, and cardiovascular risk become increasingly relevant during later childhood, adolescence, and adulthood. Early diagnosis, condition-specific imaging, neurological and respiratory surveillance, growth monitoring, and coordinated specialist care are essential for preventing severe complications. Vosoritide has introduced a disease-modifying therapeutic option, but it does not replace comprehensive clinical surveillance, rehabilitation, orthopedic care, psychosocial support, or shared decision-making. Functional limitations, environmental barriers, treatment burden, and caregiver stress contribute substantially to reduced quality of life. Conclusions: Achondroplasia should be managed as a lifelong multisystem condition rather than solely as a disorder of short stature. Standardized surveillance, multidisciplinary coordination, planned transition to adult care, and patient- and family-centered management are essential for improving function, autonomy, long-term health outcomes, and quality of life.

Introduction: Improving adult pneumococcal vaccination is a public-health priority in Romania, and evidence regarding patient-level outcomes following different approaches to physician training remains limited. Materials and methods: This non-randomised, multicentre, quasi-experimental implementation study examined patient-level changes across three geographically distinct Romanian settings between August and November 2025. Physicians in Iași and Dolj counties received in-person training combining medical content with communication techniques based on motivational interviewing, whereas physicians in the webinar group received online medical training without a dedicated communication module. Eligible adult patients completed questionnaires before and after counselling and reported whether they had been vaccinated or had scheduled a vaccination appointment. Results: The analysis included 295 questionnaire pairs from patients nested within 29 physicians. Baseline attitudes differed markedly across settings (composite score of 5.64 in the webinar group, 5.29 in Dolj County, and 4.09 in Iași County; p < 0.001), as did strong baseline vaccination intention (75.6%, 48.1%, and 27.2%, respectively). Using a composite score comprising all seven attitude items, with item 7 reverse-coded and vaccination intention analysed separately, the cluster-robust group-by-time model indicated different mean changes between settings (global p = 0.001): +0.28 in the webinar group, +1.02 in Iași, and +0.60 in Dolj. Strong vaccination intention increased within each setting, but the magnitude of change did not differ between settings (group-by-time p = 0.929). The combined self-reported vaccination-or-scheduling outcome was observed in 81.5% of patients in the webinar group, 49.4% in Iași, and 73.3% in Dolj; after adjustment for baseline intention, there was no longer evidence of an overall group difference (p = 0.651). Discussion and conclusions: Because training approach, delivery modality, geographical setting, physician cohort, and patient population were not independently allocated, and because baseline levels differed markedly between settings, the findings should be interpreted as exploratory implementation patterns rather than causal comparative effects.

Genetic testing is increasingly central to the evaluation of neurodevelopmental disorders (NDDs), yet most evidence emphasises diagnostic yield rather than whether findings change clinical care. We conducted a systematic review and meta-analysis (Preferred Reporting Items for Systematic Reviews and Meta-Analyses [PRISMA] 2020) of genetic testing across the diagnostic pathway in NDD populations, focusing on autism spectrum disorder (ASD), intellectual disability, and global developmental delay, to quantify pooled diagnostic yield and clinical actionability. A systematic search of PubMed and Web of Science, with an expanded population and outcome term set, was completed on 1 October 2026, supplemented by an artificial intelligence (AI)-assisted search (Undermind) and reference-list screening. Twenty-three studies were included in a qualitative synthesis and 22 in a quantitative meta-analysis of diagnostic yield (N = 7641 patients tested; diagnostic-yield analysis comprised 23 data points, as Charouf et al. contributed separate whole-exome sequencing (WES) and whole-genome sequencing (WGS) cohorts). Single-proportion random-effects meta-analysis with the Freeman–Tukey double arcsine transformation produced a pooled diagnostic yield of 28% (95% confidence interval [CI] 21–35%; I² = 96.1%) and pooled clinical actionability of 58% (95% CI 44–72%; I² = 95.7%) across 16 studies (N = 1538 patients with confirmed diagnoses). A significant yield gradient was observed across modalities (chromosomal microarray analysis [CMA], 16%; WES, 36%; WGS, 43%; p < 0.0001). Actionability estimates were robust across sensitivity analyses (54–64%). Genetic testing in NDDs functions not only as an etiological tool but as an input to personalised management, including pharmacological optimisation, comorbidity surveillance, and resolution of the diagnostic odyssey, albeit with very low certainty of evidence per Grading of Recommendations, Assessment, Development and Evaluations (GRADE), reflecting substantial heterogeneity and observational study design.