Anatomical Features and Morphometric Characteristics of the Sphenoidal Sinus in MRI Studies.

Differential access to pathological sellar processes and adjacent regions is determined by the anatomic structures identified through diagnostic imaging. Both direct endonasal access (microscopic or endoscopic) and sublabial access utilize the sphenoid sinus (SS) as the primary surgical pathway. Critical factors include the pneumatization of the sinus, its intermediate septa, and the presence of a double wall, consisting of a connective tissue membrane along the dorsal wall of the SS.

Availability and Access to Orphan Drugs for Rare Cancers in Bulgaria: Analysis of Delays and Public Expenditures.

Rare cancers are defined by an annual incidence of fewer than 6 per 100,000. Bearing similarities to rare diseases, they are associated with substantial health inequalities due to diagnostic complexity and delayed access to innovative therapies. This situation is further aggravated in Southeastern European countries like Bulgaria, where limited public resources and expertise underscore the need for additional policy and translational research on rare cancers.

Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.

Background: Patient registries and databases are essential tools for advancing clinical research in the area of rare diseases, as well as for enhancing patient care and healthcare planning. The primary aim of this study is a landscape analysis of available European data sources amenable to machine learning (ML) and their usability for Rare Diseases screening, in terms of findable, accessible, interoperable, reusable(FAIR), legal, and business considerations. Second, recommendations will be proposed to provide a better understanding of the health data ecosystem.

Navigating Gene Therapy Access: The Case of Bulgaria in the Context of the EU Regulatory Landscape.

Gene therapies (GTs) have recently emerged as revolutionary personalized therapeutic options. Despite their promising potential, challenges such as uncertainty regarding long-term health benefits and safety, along with extreme price tags, pose significant obstacles to patient access. Within the EU, the European Medicines Agency plays a pivotal role with regards to GT market authorization.

Are the European reference networks for rare diseases ready to embrace machine learning? A mixed-methods study.

Background: The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of diagnosis in this population group. We aim to explore the expectations and experiences of the members of the European Reference Networks (ERNs) for RDs with those technologies and their potential for application.

Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.

Since 72% of rare diseases are genetic in origin and mostly paediatrics, genetic newborn screening represents a diagnostic "window of opportunity". Therefore, many gNBS initiatives started in different European countries. Screen4Care is a research project, which resulted of a joint effort between the European Union Commission and the European Federation of Pharmaceutical Industries and Associations.

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.

Background: Given the increased availability of data sources such as hospital information systems, electronic health records, and health-related registries, a novel approach is required to develop artificial intelligence-based decision support that can assist clinicians in their diagnostic decision-making and shorten rare disease patients' diagnostic odyssey. The aim is to identify key challenges in the process of mapping European rare disease databases, relevant to ML-based screening technologies in terms of organizational, FAIR and legal principles.

Methods: A scoping review was conducted based on the PRISMA-ScR checklist.

Trauma Informed Interventions to Reduce Seclusion, Restraint and Restrictive Practices Amongst Staff Caring for Children and Adolescents with Challenging Behaviours: A Systematic Review.

Engaging with children and adolescents in mental health settings who are exhibiting behaviours that challenge can often result in the use of seclusion, restraint and coercive practices. It is recognised that more therapeutic ways to engage this population are needed, adopting trauma informed interventions may provide a solution. The aim of this systematic review is to synthesize the evidence in relation to the effect of trauma-informed interventions on coercive practices in child and adolescent residential settings.

Socio-Economic Burden of Myasthenia Gravis: A Cost-of-Illness Study in Bulgaria.

Background: Myasthenia gravis (MG) is a chronic autoimmune disorder, which is characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle fatigue, and occasionally associated with thymoma. MG patients and their families face a significant socio-economic burden. This population is often experiencing unemployment, unwilling job transfers and decreased income.