Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy affecting children, characterized by symptoms such as pontobulbar palsy, sensory ataxia, and respiratory failure. Early treatment with high-dose oral riboflavin significantly improves long-term outcomes, although patients often retain residual disabilities. Regular surveillance using the RTD Pediatric Scale and clinical measures is recommended to monitor disease progression and response to treatment. The study highlights the need for early diagnosis and treatment to prevent irreversible neuronal loss and suggests further research into additional disease-modifying therapies.

High-dose oral riboflavin therapy has shown significant benefits in treating riboflavin transporter deficiency (RTD), a progressive inherited neuropathy. The therapy improves motor function, ataxia, and bulbar palsy, with 80.9% of patients showing overall improvement. Early diagnosis and treatment are crucial for better outcomes, as untreated patients face severe disabilities and early death. Despite the benefits, patients often retain residual disabilities, highlighting the need for early intervention and additional therapies. The study emphasizes the importance of standardized outcome measures to accurately assess disease progression and treatment efficacy.

Research indicates that primary school-aged girls and boys have no significant differences in physical capabilities until high school age, challenging the stereotype that boys are more physically capable than girls. The study, which involved testing 300 children aged 3 to 19 on various physical performance measures, supports mixed-gender sports teams until the end of primary school. The findings, representative of the Australian population, suggest that mixed-gender sports could offer practical advantages such as fewer scheduling conflicts and consolidated resources. The authors, Marnee McKay and Joshua Burns from the University of Sydney, argue that the perception of boys being more physically capable may stem from outdated gender stereotypes.

The study validates a parent-proxy version of the pediatric Charcot‐Marie‐Tooth disease quality of life (pCMT-QOL) instrument for children aged 0–7 years, demonstrating that parents perceive CMT's impact on their children's quality of life, even in milder cases. The study finds that physical domains are more affected than mental domains, and this perception remains constant throughout childhood. Gender differences in perceived impairment were noted, with females perceived as more physically impaired. The study acknowledges limitations such as a larger proportion of subjects with CMT1A and the lack of validated concurrent assessment tools for children under 4 years. The parent-proxy pCMT-QOL is considered valid for assessing quality of life in young children with CMT and can be used remotely, facilitating natural history studies and clinical trials for children with limited access to CMT clinics.

The study investigates the variability between six commercially available hand-held dynamometers for measuring isometric muscle strength in thirty healthy individuals. The dynamometers tested include Citec, Nicholas, MicroFET2, Commander, Jamar Plus, and Baseline Hydraulic. The study found that several dynamometers can be used interchangeably for measuring muscle strength, which maximizes the use of normative reference values. The Commander dynamometer under-recorded muscle strength compared to the others. The study enhances the utility of hand-held dynamometers in clinical and research settings by supporting the interchangeability of different models.

Children with idiopathic toe walking (ITW) exhibit reduced plantar and dorsiflexion at the ankle and lower limb muscle strength compared to their peers. The study, involving 26 children with ITW, found significant differences in ankle range of motion and strength measures, highlighting the need for clinicians to focus on lower limb strength in this population. The research underscores the importance of muscle strength in functional movement patterns and suggests that ITW may result from or lead to lower limb weakness. The findings advocate for standardized measures in future ITW studies to improve treatment and understanding of the condition.

The study focuses on developing a functional outcome measure for riboflavin transporter deficiency (RTD) in children. A literature review was conducted, and experts were consulted to ensure comprehensive coverage. Pilot testing involved five individuals with genetically confirmed RTD, assessed using new items alongside the CMTPedS assessment. The final RTD Pediatric Scale (RTDPedS) was adapted from the CMTPedS, incorporating new measures for upper and lower limb function and balance, while removing less relevant items. The RTDPedS scores range from 0 to 48, with higher scores indicating greater impairment. The median score from pilot testing was 21/48, indicating moderate impairment.

Orthoses are external supportive devices used to reduce pain and enhance function in patients with neuromuscular and musculoskeletal disorders. Traditional methods of fabricating foot and ankle orthoses are labor-intensive and resource-heavy, involving manual production techniques. Digital approaches, such as 3D scanning, offer potential benefits including reduced lead times, material wastage, and costs. This systematic review compares the speed, accuracy, and reliability of 3D scanning versus traditional methods for capturing foot and ankle morphology. The review found moderate evidence that 3D scanning is faster, especially for experienced clinicians, and generally comparable in accuracy and reliability to traditional methods. However, the evidence quality was rated as moderate to low, indicating insufficient support for a clinical recommendation for 3D scanning. Continuous assessment and training are recommended for successful implementation of 3D scanning in clinical environments.

The study investigates the molecular mechanisms by which intermolecular π-stacking and electrostatic interactions drive the conformational changes necessary for β-barrel pore formation in cholesterol-dependent cytolysins (CDCs). The research highlights the role of a conserved Met-Met-Phe triad in maintaining the twist in the core β-sheet and restricting the α-helical-to-β-strand transition. The findings reveal that the π-stacking interaction disrupts these intramolecular interactions, facilitating the formation of the β-barrel pore. The study provides insights into the structural transitions and energy barriers involved in the prepore-to-pore conversion, with implications for understanding the function of the CDC/MACPF/SNTX superfamily of pore-forming toxins.

The study assesses the reliability of using ultrasound to measure the cross-sectional area of the abductor hallucis (AbH) and the medial belly of the flexor hallucis brevis (FHBM) muscles in a seated position. It explores the relationship between these measurements and toe flexion strength, foot morphology, and balance. The findings indicate that ultrasound is a reliable method for measuring these muscles, and that the size of the AbH muscle is significantly associated with participant characteristics, toe strength, foot morphology, and balance. The study suggests that the cross-sectional area of AbH could serve as an early biomarker for foot muscle weakness.