Global insight into rare disease and orphan drug definitions: a systematic literature review.

Objectives: This study sheds light on the available global definitions, classifications, and criteria used for rare diseases (RDs), ultrarare diseases (URDs), orphan drugs (ODs) and ultraorphan drugs (UODs) and provides insights into the rationale behind these definitions.

Design: A systematic literature review was conducted to identify existing definitions and the criteria used to define RDs, ODs and their subtypes.

Data Sources: Searches were performed in the PubMed/Medline, Embase, Scopus and Web of Science (Science and Social Sciences Citation Index) databases covering articles published from 1985 to 2021.

Coronary CT angiography-guided management of patients with stable chest pain: 10-year outcomes from the SCOT-HEART randomised controlled trial in Scotland.

Background: The Scottish Computed Tomography of the Heart (SCOT-HEART) trial demonstrated that management guided by coronary CT angiography (CCTA) improved the diagnosis, management, and outcome of patients with stable chest pain. We aimed to assess whether CCTA-guided care results in sustained long-term improvements in management and outcomes.

Methods: SCOT-HEART was an open-label, multicentre, parallel group trial for which patients were recruited from 12 outpatient cardiology chest pain clinics across Scotland.

Extreme heat risk and the potential implications for the scheduling of football matches at the 2026 FIFA World Cup.

Climate change is making extreme heat events more frequent and intense. This negatively impacts many aspects of society, including organised sport. As the world's most watched sporting event, the FIFA World Cup commands particular attention around the threat of extreme heat.

Pulmonary Delivery of Antibiotics to the Lungs: Current State and Future Prospects.

This paper presents a comprehensive review of the current literature, clinical trials, and products approved for the delivery of antibiotics to the lungs. While there are many literature reports describing potential delivery systems, few of these have translated into marketed products. Key challenges remaining are the high doses required and, for powder formulations, the ability of the inhaler and powder combination to deliver the dose to the correct portion of the respiratory tract for maximum effect.

Visual Acuity Outcomes and Influencing Factors in a Cohort of UK Real-World Diabetic Macular Oedema Patients During the First Two Years of Anti-VEGF Treatment.

Background/objectives: The visual acuity (VA) outcomes after the first and second years of anti-vascular endothelial growth factor (anti-VEGF) treatment in patients with diabetic macular oedema (DMO) were evaluated, and the factors associated with treatment success were investigated.

Methods: Using Medisoft electronic medical records (UK), this retrospective cohort study analysed VA outcomes, changes, and determinants in DMO patients at year 1 and year 2 after initial anti-VEGF injection. Descriptive analysis examined baseline demographics and clinical characteristics, while regression models were used to assess associations between these factors and changes in VA.

Niosome Preparation Techniques and Structure-An Illustrated Review.

A comprehensive review of recent research on niosomes was conducted using a mixed methodology, including searches in databases such as Scopus, PubMed, and Web of Science (WoS). Articles were selected based on relevance. The current review examines the historical development of niosomes focusing on the methods of preparations and the contemporary strategies and prospective advancements within the realm of drug delivery systems, highlighting innovative approaches across transdermal, oral, and cellular delivery.

Dynamic Tensile Response of Basalt Fibre Grids for Textile-Reinforced Mortar (TRM) Strengthening Systems.

The present work constitutes the initial experimental effort to characterise the dynamic tensile performance of basalt fibre grids employed in TRM systems. The tensile behaviour of a bi-directional basalt fibre grid was explored using a high-speed servo-hydraulic testing machine with specialised grips. Deformation and failure modes were captured using a high-speed camera.

Characteristics of Hydrogels as a Coating for Microneedle Transdermal Delivery Systems with Agomelatine.

Agomelatine (AGM) is an effective antidepressant with low oral bioavailability due to intensive hepatic metabolism. Transdermal administration of agomelatine may increase its bioavailability and reduce the doses necessary for therapeutic effects. However, transdermal delivery requires crossing the barrier.

Senegalin-2: A Novel Hexadecapeptide from with Antibacterial and Muscle Relaxant Activities, and Its Derivative Senegalin-2BK as a Bradykinin Antagonist.

The amphibian skin secretions are excellent sources of bioactive peptides, some of which and their derivatives exhibit multiple properties, including antibacterial and antagonism against bradykinin. A novel peptide Senegalin-2 was isolated from the skin secretions of frog. Senegalin-2 relaxed rat bladder smooth muscle (EC 17.

Stable laser-acceleration of high-flux proton beams with plasma collimation.

Laser-plasma acceleration of protons offers a compact, ultra-fast alternative to conventional acceleration techniques, and is being widely pursued for potential applications in medicine, industry and fundamental science. Creating a stable, collimated beam of protons at high repetition rates presents a key challenge. Here, we demonstrate the generation of multi-MeV proton beams from a fast-replenishing ambient-temperature liquid sheet.

Identifying Research Priorities for Cognition in CKD: A Delphi Study.

Background: Cognition is a research priority for people living with chronic kidney disease (CKD), but identification of critical research questions is lacking. This study aimed to determine which cognition-related research questions are most important to CKD stakeholders.

Methods: A modified Delphi technique with 3 survey rounds was used.

Inulin Dehydration to 5-HMF in Deep Eutectic Solvents Catalyzed by Acidic Ionic Liquids Under Mild Conditions.

Valorization of carbohydrate-rich biomass by conversion into industrially relevant products is at the forefront of research in sustainable chemistry. In this work, we studied the inulin conversion into 5-hydroxymethylfurfural, in deep eutectic solvents, in the presence of acidic task-specific ionic liquids as catalysts. We employed aliphatic and aromatic ionic liquids as catalysts, and choline chloride-based deep eutectic solvents bearing glycols or carboxylic acids, as solvents.

Regional challenges to optimize the management of patients with severe asthma type 2 inflammation: a Delphi consensus in seven countries.

Severe asthma burdens patients and presents clinical management challenges for healthcare professionals. Biologics are crucial interventions for severe type two (T2) patients with high eosinophil counts. We conducted a Delphi consensus in seven developing or typically underrepresented countries to understand expert agreement on managing severe asthma with type two (T2) inflammation.

A Scoping Review of Educational and Training Interventions on Parkinson's Disease for Staff in Care Home Settings.

Background/objectives: Parkinson's disease (PD) is a complex neurodegenerative disorder that presents significant challenges for care home residents and staff. This scoping review aimed to synthesize evidence on PD education and training available to care home staff, examine existing programs and their effectiveness, and identify gaps in current educational approaches.

Methods: A scoping review (ScR) was conducted and guided by the Preferred Reporting Items for Systematic Reviews and Meta-analysis extension for ScR (PRISMA-ScR) checklist.

"Beyond the Finish Line" the Epidemiology of Injury and Illness in Professional Cycling: Insights from a Year-Long Prospective Study.

Injury and illness rates within cycling are a growing concern for riders, medical personnel, and event organisers. This study is the first to document injury and illness rates in professional cyclists throughout one competitive season including training and racing. A prospective, longitudinal study was conducted with 47 professional cyclists (30 males and 17 females) over the 2024 season (1 November 2023-31 October 2024).

Incidence and survival of European adolescents and young adults diagnosed with sarcomas: EUROCARE-6 results.

Background: Epidemiological data for sarcoma in adolescents and young adults (AYAs) and across age groups are limited. We aim to: 1) update sarcoma incidence, survival, and changes over time in European AYAs; 2) provide an updated comparison of sarcoma survival in AYAs versus children and mature adults.

Methods: We calculated crude incidence rates (IR) per 100,000 European population per year from 2006 to 2013.

Sex differences in survival from melanoma of the skin: The role of age, anatomic location and stage at diagnosis: A CONCORD-3 study in 59 countries.

Background: CONCORD-3 highlighted wide disparities in population-based 5-year net survival for cutaneous melanoma during 2000-2014. Studies showed a survival advantage in women, but the reasons are not completely understood. We aim to estimate trends in age-standardised 5-year net survival by sex and to examine the role of age, anatomic location and stage on the survival advantage for women worldwide.

Sensory reweighting for balance in people living with Parkinson's Disease: Postural adaptation, muscle co-contraction, and perceptual delays.

Background: Postural instability is common in people with Parkinson's Disease (PwPD), increasing their risk of injurious falls. Evidence suggests a sensory reweighting deficit in PwPD, along with compensatory muscle co-contraction in response to postural challenges. During balance tasks requiring sensory reweighting, older adults exhibit elevated postural sway and muscle co-contraction, as well as longer perceptual delays, compared to young adults.

Investigating risk factors of dissociative and complex posttraumatic stress disorder across diagnostic systems and potential implications: Latent class analyses.

Objective: Posttraumatic stress disorder (PTSD) and more complex posttraumatic symptomatology (i.e., dissociative PTSD [D-PTSD] and complex PTSD [CPTSD]) are differently described in the (5th ed.

Sedation and Ventilator Weaning Bundle and Time to Extubation in Infants With Bronchiolitis: Secondary Analysis of the Sedation AND Weaning in Children (SANDWICH) Trial.

Objective: The Sedation and Weaning in Children (SANDWICH) trial of a sedation weaning and ventilator liberation bundle had a primary outcome of time to successful extubation, and showed significant but small difference. We explored the impact of the intervention on infants with bronchiolitis.

Design: Post hoc subgroup analysis of a cluster-randomized trial, 2018 to 2019 (ISRCTN16998143).

Hyaluronic acid efficacy in root coverage procedures: a systematic review and meta-analysis.

Background: Treatment of gingival recessions through surgical approaches is a common periodontal intervention. There is a rise in using biologics in root coverage procedures. As it has been shown that hyaluronic acid (HA) promotes wound healing, this review aimed to assess its efficacy in the treatment of gingival recessions.

Identification and characterisation of two functional antibiotic MATE efflux pumps in the archaeon Halorubrum amylolyticum.

Multidrug efflux pumps have been found to play a crucial role in drug resistance in bacteria and eukaryotes. In this study, we investigated the presence of functional multidrug and toxic compound extrusion (MATE) efflux pumps, inferred from whole genome sequencing, in the halophilic archaeon Halorubrum amylolyticum CSM52 using Hoechst 33342 dye accumulation and antimicrobial sensitivity tests in the presence and absence of efflux pump inhibitors (EPIs). The whole genome sequence of H.

A genome-wide association study identifies genetic variants associated with hip pain in the UK Biobank cohort (N = 221,127).

Hip pain is a common musculoskeletal complaint that leads many people to seek medical attention. We conducted a primary genome-wide association study (GWAS) on the hip pain phenotype within the UK Biobank cohort. Sex-stratified GWAS analysis approach was also performed to explore sex specific variants associated with hip pain.

Macronutrient modulation in metabolic dysfunction-associated steatotic liver disease - the molecular role of fatty acids versus sugars in human metabolism and disease progression.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is a significant public health concern, with its progression to metabolic dysfunction-associated steatohepatitis (MASH) and fibrosis leading to severe outcomes including cirrhosis, hepatocellular carcinoma and liver failure. While obesity and excess energy intake are well established contributors to the development and progression of MASLD, the distinct role of specific macronutrients is less clear. This review examines the mechanistic pathways through which dietary fatty acids and sugars contribute the development of hepatic inflammation and fibrosis, offering a nuanced understanding of their respective roles in MASLD progression.