Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.

Current management guidelines for urea cycle disorders (UCDs) offer clear strategies, incorporating both authorized and non-authorized medicinal products (including intravenous formulations and products regulated as food). These varying product categories are subject to specific accessibility challenges related to availability, reimbursement, and pricing. The aim of this study is to identify potential obstacles to optimal UCD treatment implementation in European clinical practice.

Making Co-Design More Responsible: Case Study on the Development of an AI-Based Decision Support System in Dementia Care.

Background: Emerging technologies such as artificial intelligence (AI) require an early-stage assessment of potential societal and ethical implications to increase their acceptability, desirability, and sustainability. This paper explores and compares 2 of these assessment approaches: the responsible innovation (RI) framework originating from technology studies and the co-design approach originating from design studies. While the RI framework has been introduced to guide early-stage technology assessment through anticipation, inclusion, reflexivity, and responsiveness, co-design is a commonly accepted approach in the development of technologies to support the care for older adults with frailty.

The evaluation of a decision support system integrating assistive technology for people with dementia at home.

Introduction: With a decreasing workforce of carers and a transition from care homes to home care, people with dementia (PwD) increasingly rely on informal caregivers (ICs) and assistive technologies (ATs). There is growing evidence that ATs in the home environment can reduce workload for formal carers (FCs) and ICs, reduce care costs, and can have a positive influence on quality of life (QoL) for PwD and their caregivers. In practice, using multiple ATs still often implies using different separate point solutions and applications.

AI-Assisted Decision-Making in Long-Term Care: Qualitative Study on Prerequisites for Responsible Innovation.

Background: Although the use of artificial intelligence (AI)-based technologies, such as AI-based decision support systems (AI-DSSs), can help sustain and improve the quality and efficiency of care, their deployment creates ethical and social challenges. In recent years, a growing prevalence of high-level guidelines and frameworks for responsible AI innovation has been observed. However, few studies have specified the responsible embedding of AI-based technologies, such as AI-DSSs, in specific contexts, such as the nursing process in long-term care (LTC) for older adults.

Experiences of physiotherapists considering virtual reality for shoulder rehabilitation: A focus group study.

Introduction: Shoulder pain is common and associated with substantial morbidity. Different treatment strategies are being prescribed with equivocal results. Virtual reality (VR) is a novel technology and emerging research suggests that VR may be a promising alternative to current treatments.

Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value-based healthcare approach and systematic benefit-risk assessment.

Off-label repurposing of empagliflozin allows pathomechanism-based treatment of neutropenia/neutrophil-dysfunction in glycogen storage disease type Ib (GSDIb). From a value-based healthcare (VBHC) perspective, we here retrospectively studied patient-reported, clinical and pharmacoeconomic outcomes in 11 GSDIb individuals before and under empagliflozin at two centers (the Netherlands [NL], Austria [AT]), including a budget impact analysis, sensitivity-analysis, and systematic benefit-risk assessment. Under empagliflozin, all GSDIb individuals reported improved quality-of-life-scores.

The effect of movement representation techniques on ankle function and performance in persons with or without a lateral ankle sprain: a systematic review and meta-analysis.

Background: Lateral ankle sprains are highly prevalent and result in tissue damage, impairments of muscle strength, instability, and muscle activation. Up to 74% will experience ongoing symptoms after a lateral ankle sprain. In healthy subjects, motor imagery might induce neural changes in the somatosensory and motor areas of the brain, yielding favourable enhancements in muscular force.

Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism.

Dietary or nutritional management strategies are the cornerstone of treatment for many inborn errors of metabolism (IEMs). Though a vital part of standard of care, the products prescribed for this are often not formally registered as medication. Instead, they are regulated as food or as food supplements, impacting the level of oversight as well as reimbursed policies.

The concurrent validity and reliability of virtual reality to measure shoulder flexion and scaption range of motion.

Background: Shoulder pain commonly has a detrimental impact on patient's work and social activities. Although pain is the most common reason for seeking care, a reduction in shoulder range of motion (ROM) is another common impairment. ROM assessment is used as an evaluation tool and multiple methods are available to measure shoulder ROM.

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public-private partnerships.

Medicine development for rare diseases, including inborn errors of metabolism (IEMs) is challenging. Many academic innovations fail to reach the patient, either by stranding in the translational stage or due to suboptimal patient access related to pricing or uncertain effectiveness. Expanding and solidifying the role of the academic in public-private partnerships (PPPs) may present an innovative solution to help overcome these complexities.

Access to medicines for rare diseases: A European regulatory roadmap for academia.

: Novel or repurposed medicines for rare diseases often emerge from fundamental research or empirical findings in academia. However, researchers may be insufficiently aware of the possibilities and requirements to bring novel medicinal treatment options to the patient. This paper aims to provide an easily applicable, comprehensive roadmap designed for academic researchers to make medicines for rare diseases available for patients by addressing the relevant regulatory frameworks, including marketing authorization and alternative routes.

Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.

Recent studies have reported the potential for the therapeutic use of ketones in the form of ketone salts (KSs) in pediatric patients with fatty acid oxidation disorders (FAODs). We report a case of ketone salt administration in an adult patient with mitochondrial trifunctional protein deficiency (MTPD), an ultra-rare inborn error of the fatty acid metabolism. This patient was treated with oral KSs during an episode of sepsis of unknown origin.

Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review.

Aims: While mexiletine has been used for over 40 years for prevention of (recurrent) ventricular arrhythmias and for myotonia, patient access has recently been critically endangered. Here we aim to demonstrate the effectiveness and safety of mexiletine in the treatment of patients with (recurrent) ventricular arrhythmias, emphasizing the absolute necessity of its accessibility.

Methods And Results: Studies were included in this systematic review (PROSPERO, CRD42020213434) if the efficacy or safety of mexiletine in any dose was evaluated in patients at risk for (recurrent) ventricular arrhythmias with or without comparison with alternative treatments (e.

A vitamin a day keeps the doctor away: The need for high quality pyridoxal-5'-phosphate.

Background: A rare subset of vitamin B6 responsive seizure disorders does not respond to pyridoxine, and requires the active form of vitamin B6, pyridoxal-5'-phosphate (PLP), to maintain seizure control. Patients with PLP-responsive seizures are dependent on chronic PLP treatment, yet no licensed PLP product is available. PLP food supplements, a product category regulated less stringently than medication, may prove of insufficient effectiveness and safety.

Using beat frequency in music to adjust running cadence in recreational runners: A randomized multiple baseline design.

Running with music has been shown to acutely change cadence. However, it is unclear if the increased cadence remains long-term when running without music in an in-field situation. The aim of this 12-week study was to investigate the effect of a 4-week music running program on cadence, speed and heartrate during and after the music running program.

Motivation for Physical Activity: Validation of the Dutch Version of the Physical Activity and Leisure Motivation Scale (PALMS).

Understanding motivation for exercise can be helpful in improving levels of physical activity. The Physical Activity and Leisure Motivation Scale (PALMS) measures distinct goal-oriented motivations. In this study selected measurement properties of the Dutch version (PALMS-D) are determined.

Treatment of metatarsalgia based on claw toe deformity through soft tissue release of the metatarsophalangeal joint and resection of the proximal interphalangeal joint: Evaluation based on foot kinematics and plantar pressure distribution.

Introduction: This study investigated the effect of operative claw toe correction with release of the metatarsophalangeal (MTP) joint, repositioning of the plantar fat pad and resection of the proximal interphalangeal joint on foot kinematics, plantar pressure distribution and Foot Function Index (FFI).

Methods: Prospective experimental study with pretest-posttest design. The plantar pressure, 3D foot kinematics and the FFI of 15 patients with symptomatic claw toes were measured three months before and 12months after surgery.

Morbidity of a Single Incision Transvaginal Mesh to Correct Apical Prolapse.

Study Objective: To determine complications and related reintervention rates associated with use of the Uphold Vaginal Support System (Boston Scientific, Boston, MA) for symptomatic vaginal apical prolapse.

Design: A multicenter retrospective study.

Setting: Two teaching hospitals.

Quantification of gait in children with mitochondrial disease.

Mitochondrial disorders are multisystem conditions that can potentially affect gait in many ways. The aim of this study was to select the optimal protocol to quantify the spatiotemporal parameters of gait in ambulatory children with mitochondrial disorders based on feasibility, test-retest reliability, and the difference between patients and controls. Gait at self-selected pace was quantified in ambulatory children with a genetically confirmed primary mitochondrial disease using the GAITRite electronic walkway.

Gait analysis before and after corrective osteotomy in patients with knee osteoarthritis and a valgus deformity.

Purpose: In this prospective study, the changes in kinetics and kinematics of gait and clinical outcomes after a varus osteotomy (tibial, femoral or double osteotomy) in patients with osteoarthritis (OA) of the knee and a valgus leg alignment were analysed and compared to healthy subjects.

Methods: Twelve patients and ten healthy controls were included. Both kinetics and kinematics of gait and clinical and radiographic outcomes were evaluated.

Prediction of walking speed using single stance force or pressure measurements in healthy subjects.

Walking speed is one of the best measures of overall walking capacity. In plantar pressure measurements, walking speed can be assessed using contact time, but it is only moderately correlated with walking speed. The center of pressure might be of more value to indicate walking speed since walking speed alters foot loading.

Monte Carlo simulation of diffusion and ionic conductivity in a simple cubic random alloy via the interstitialcy mechanism.

This Monte Carlo study deals with mass and charge transport in binary ionic alloys governed by interstitialcy defects acting as diffusion vehicles. In particular, we calculate tracer correlation factors f(A) and f(B) in a simple cubic random alloy AB for diffusion via the collinear interstitialcy mechanism as a function of composition and jump frequency ratio wA/wB. [corrected].

Mass and Charge Transport in the Polymer-Ionic-Liquid System PEO-EMImI: From Ionic-Liquid-in-Polymer to Polymer-in-Ionic-Liquid Electrolytes.

Conventional polymer electrolytes based on inorganic salts are commonly characterized and utilized over a small salt-poor composition range because of phase transitions accompanied by loss of ion conductivity at high salt concentrations. By contrast, well-chosen polymer-ionic-liquid (IL) systems offer the possibility to vary the IL content from the IL-in-polymer to the polymer-in-IL domain. We have investigated the temperature-dependent ionic conductivity in PEOyEMImI systems consisting of poly(ethylene oxide) complexed with 1-ethyl-3-methylimidazolium iodide for y = EO/IL ratios ranging from 0.

Foot lengthening and shortening during gait: a parameter to investigate foot function?

Introduction: Based on the windlass mechanism theory of Hicks, the medial longitudinal arch (MLA) flattens during weight bearing. Simultaneously, foot lengthening is expected. However, changes in foot length during gait and the influence of walking speed has not been investigated yet.