Joshua Burns
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View article: Feasibility of Designing, Manufacturing and Delivering 3D Printed Ankle‐Foot Orthoses: An Updated Systematic Review
Feasibility of Designing, Manufacturing and Delivering 3D Printed Ankle‐Foot Orthoses: An Updated Systematic Review Open
Background Ankle‐foot orthoses (AFOs) are commonly prescribed to manage lower limb impairments, especially foot drop in neurological disorders. With the evolution of 3D technology, digital acquisition using 3D scanning and modelling using …
View article: Navigating Health Literacy: Comparison of Assessment Tools in a Surgical Safety‐Net Population
Navigating Health Literacy: Comparison of Assessment Tools in a Surgical Safety‐Net Population Open
Health literacy as measured by three validated assessment tools.
View article: Designing and Implementing a Web‐Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot–Marie–Tooth disease
Designing and Implementing a Web‐Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot–Marie–Tooth disease Open
Background and Aims Accurate, reliable and sensitive clinical outcome measures in rare neurologic conditions, such as Charcot–Marie–Tooth disease (CMT), are essential for monitoring disease progression and evaluating treatment efficacy. En…
View article: Age is just a number: Clustering gait and functional measures
Age is just a number: Clustering gait and functional measures Open
Our analysis suggests that age should not be used to separate individuals into groups, and that our assumption of "age matters" may not be relevant when determining true functional movement ability. Further work is needed to understand nor…
View article: Feasibility, Validity, and Reliability of the Virtual <scp>CMT</scp> Infant Toddler Scale (<scp>vCMTInfS</scp>): A Remote Evaluation of Infants/Toddlers With <scp>CMT</scp>
Feasibility, Validity, and Reliability of the Virtual <span>CMT</span> Infant Toddler Scale (<span>vCMTInfS</span>): A Remote Evaluation of Infants/Toddlers With <span>CMT</span> Open
Background and Aims The CMT Infant Scale (CMTInfS) enables evaluation of infants/toddlers in clinic. Our aim was to evaluate the feasibility, reliability, and validity of a virtual version of the CMTInfS (vCMTInfS). Methods Children aged 5…
View article: Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of<i>PMP22</i>Variants
Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of<i>PMP22</i>Variants Open
Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the peripheral myelin protein-22 ( PMP22 ) gene. CMT1E phenotypes vary depending…
View article: Study protocol for the Australasian Cerebral Palsy Musculoskeletal Health Network (AusCP MSK) prospective cohort study: early detection of musculoskeletal complications in young children with moderate to severe cerebral palsy (GMFCS III–V)
Study protocol for the Australasian Cerebral Palsy Musculoskeletal Health Network (AusCP MSK) prospective cohort study: early detection of musculoskeletal complications in young children with moderate to severe cerebral palsy (GMFCS III–V) Open
Background Cerebral palsy (CP) is the most common physical disability of childhood, affecting movement and posture, resulting from a neurological insult during pregnancy or the neonatal period. While the brain lesion is static, the musculo…
View article: Prime Gap Instability and the Collapse of the Riemann Hypothesis
Prime Gap Instability and the Collapse of the Riemann Hypothesis Open
The Riemann Hypothesis (RH) asserts that all nontrivial zeros of the Riemann zeta function lie on the critical line ℜ(s) = 1/2 . In this paper, we prove that RH is false by demonstrating that the evolution of zeta zeros under the de Bruijn…
View article: The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)
The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN) Open
SP-CERN's collaborative approach bridges gaps in clinical care and research for HSP by improving diagnostic capabilities and promoting clinical trial readiness. This initiative represents a framework for rare disease research, accelerating…
View article: Dirty Work: Essential Jobs and the Hidden Toll of Inequality in America
Dirty Work: Essential Jobs and the Hidden Toll of Inequality in America Open
Dirty Work: Essential Jobs and the Hidden Toll of Inequality in America exposes the hidden work we benefit from in the United States. This work is termed dirty work, which is “unethical activity that [has been] delegated to certain agents …
View article: Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial
Goal‐Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single‐Blind, Randomized Controlled Superiority Trial Open
Objective Rehabilitation is thought to reduce ataxia severity in individuals with hereditary cerebellar ataxia (HCA). This multicenter, randomized controlled superiority trial aimed to examine the efficacy of a 30‐week goal‐directed rehabi…
View article: <scp>RNA</scp> mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
<span>RNA</span> mis‐splicing in children with congenital myotonic dystrophy is associated with physical function Open
Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myoto…
View article: MuscleMap: An Open-Source, Community-Supported Consortium for Whole-Body Quantitative MRI of Muscle
MuscleMap: An Open-Source, Community-Supported Consortium for Whole-Body Quantitative MRI of Muscle Open
Disorders affecting the neurological and musculoskeletal systems represent international health priorities. A significant impediment to progress in trials of new therapies is the absence of responsive, objective, and valid outcome measures…
View article: Patient‐reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study
Patient‐reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study Open
Background and Aims The Charcot–Marie–Tooth Disease Health Index (CMT‐HI) is a disease‐specific, patient‐reported disease burden measure. As part of an international clinical trial readiness study, individuals with CMT1A (ages 18–75 years)…
View article: Two-year 3D gait outcomes following in-situ pinning or modified Dunn procedure in children with slipped capital femoral epiphysis
Two-year 3D gait outcomes following in-situ pinning or modified Dunn procedure in children with slipped capital femoral epiphysis Open
Gait patterns of children with SCFE treated with PIN was more markedly altered than that of children with SCFE treated with MDP, despite having lower SCFE severity. Increased external hip rotation observed in the PIN group may be a pre-cur…
View article: Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations
Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations Open
The aim of this longitudinal case series was to describe long‐term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high‐dose oral riboflavin. Data were collected between 2012 to 2022. …
View article: Comparison of accuracy and speed between plaster casting, high‐cost and low‐cost 3D scanners to capture foot, ankle and lower leg morphology of children requiring ankle‐foot orthoses
Comparison of accuracy and speed between plaster casting, high‐cost and low‐cost 3D scanners to capture foot, ankle and lower leg morphology of children requiring ankle‐foot orthoses Open
Background Traditional plaster‐cast fabrication of an ankle‐foot orthosis (AFO), although robust, is time‐consuming and cumbersome. 3D scanning is quickly gaining attention as an alternative to plaster casting the foot and ankle region for…
View article: RNA mis-splicing in children with myotonic dystrophy is associated with physical function
RNA mis-splicing in children with myotonic dystrophy is associated with physical function Open
Objectives Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form of disease, congenital myoto…
View article: The effects of wearing textured versus smooth shoe insoles for 4-weeks in people with diabetic peripheral neuropathy: a randomised controlled trial
The effects of wearing textured versus smooth shoe insoles for 4-weeks in people with diabetic peripheral neuropathy: a randomised controlled trial Open
This study provides weak statistical evidence in favour of textured insoles. Wearing textured insoles may alter measures of balance, suggestive of greater stability, in people with diabetic neuropathy. Plantar stimulation, through textured…
View article: Variability between Different Hand-Held Dynamometers for Measuring Muscle Strength
Variability between Different Hand-Held Dynamometers for Measuring Muscle Strength Open
Muscle strength is routinely measured in patients with neuromuscular disorders by hand-held dynamometry incorporating a wireless load cell to evaluate disease severity and therapeutic efficacy, with magnitude of effect often based on norma…
View article: Development of a functional outcome measure for riboflavin transporter deficiency
Development of a functional outcome measure for riboflavin transporter deficiency Open
Background and Aims Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised clinically by pontobulbar palsy, sensory ataxia, sensorineural deafness, muscle weakness, optic atrophy and…
View article: Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure
Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure Open
The CMT-FOM is a psychometrically robust multi-item, unidimensional, disease-specific COA covering strength, upper and lower limb function, balance, and mobility to capture how participants with CMT1A function to identify therapeutic effic…
View article: Two-Year 3D Gait Outcomes Following In-Situ Pinning or Modified Dunn Procedure in Children with Slipped Capital Femoral Epiphysis
Two-Year 3D Gait Outcomes Following In-Situ Pinning or Modified Dunn Procedure in Children with Slipped Capital Femoral Epiphysis Open
View article: Evaluating the Use of PROMs in Paediatric Orthopaedic Registries
Evaluating the Use of PROMs in Paediatric Orthopaedic Registries Open
Patient-reported outcome measures (PROMs) provide structured information on the patient’s health experience and facilitate shared clinical decision-making. Registries that collect PROMs generate essential information about the clinical cou…
View article: Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease Open
Children with CMT who were severely underweight, underweight, or obese exhibited greater disability at baseline. Over the 2-year period in those whose BMI remained stable, severely underweight children deteriorated at the fastest rate. For…
View article: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants Open
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many…
View article: Validation of the parent‐proxy version of the pediatric <scp>Charcot‐Marie‐Tooth</scp> disease quality of life instrument for children aged 0–7 years
Validation of the parent‐proxy version of the pediatric <span>Charcot‐Marie‐Tooth</span> disease quality of life instrument for children aged 0–7 years Open
Objective To evaluate the parent‐proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT‐QOL) outcome instrument for children aged 7 or younger with CMT. We have previously developed and validated the direct‐repor…
View article: Issue Information
Issue Information Open
Wiley is a founding member of the UN-backed HINARI, AGORA, and OARE initiatives.They are now collectively known as Research4Life, making online scientific content available free or at nominal cost to researchers in developing countries.
View article: Comparison of multiple 3D scanners to capture foot, ankle, and lower leg morphology
Comparison of multiple 3D scanners to capture foot, ankle, and lower leg morphology Open
Background: 3D scanning of the foot and ankle is gaining popularity as an alternative method to traditional plaster casting to fabricate ankle-foot orthoses (AFOs). However, comparisons between different types of 3D scanners are limited. O…
View article: Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints Open
Heritable neurological disorders provide insights into disease mechanisms that permit development of novel therapeutic approaches including antisense oligonucleotides, RNA interference, and gene replacement. Many neurogenetic diseases are …