Clinician and parent views on urine collection in precontinent children in the UK: a qualitative interview study.

Objective: To explore the experiences of healthcare professionals (HCPs) and parents of urine collection methods, to identify barriers to successful sampling and what could improve the process.

Design: Qualitative research, using individual semistructured interviews with HCPs and parents. The interviews were audiorecorded, transcribed and thematically analysed.

The effect of Functional Electrical Stimulation-assisted posture-shifting in bone mineral density: case series-pilot study.

Study Design: A training intervention study using standing dynamic load-shifting Functional Electrical Stimulation (FES) in a group of individuals with complete spinal cord injury (SCI) T2 to T10.

Objectives: Investigate the effect of FES-assisted dynamic load-shifting exercises on bone mineral density (BMD).

Setting: University Lab within the Biomedical Engineering METHODS: Twelve participants with ASIA A SCI were recruited for this study.

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.

Purpose: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults.

Design: Retrospective case series.

Participants: Patients with a detailed clinical phenotype consistent with ARB, biallelic likely disease-causing sequence variants in the BEST1 gene, or both identified at a single tertiary referral center.

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.

Purpose: In a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with disease attributable to causative variants in each gene.

Design: Retrospective study of electronic patient records.

Participants: Patients and relatives managed in the Genetics Service of Moorfields Eye Hospital in whom a molecular diagnosis had been identified.

Novel instrumented frame for standing exercising of users with complete spinal cord injuries.

This paper describes a Functional Electrical Stimulation (FES) standing system for rehabilitation of bone mineral density (BMD) in people with Spinal Cord Injury (SCI). BMD recovery offers an increased quality of life for people with SCI by reducing their risk of fractures. The standing system developed comprises an instrumented frame equipped with force plates and load cells, a motion capture system, and a purpose built 16-channel FES unit.

A clinical and molecular characterisation of CRB1-associated maculopathy.

To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype-phenotype correlations are currently recognised. We performed a retrospective review of electronic patient records to identify patients with macular dystrophy due to bi-allelic variants in CRB1.

A Design Method for FES Bone Health Therapy in SCI.

FES assisted activities such as standing, walking, cycling and rowing induce forces within the leg bones and have been proposed to reduce osteoporosis in spinal cord injury (SCI). However, details of the applied mechanical stimulus for osteogenesis is often not reported. Typically, comparisons of bone density results are made after costly and time consuming clinical trials.

Inhomogeneous Response of Articular Cartilage: A Three-Dimensional Multiphasic Heterogeneous Study.

Articular cartilage exhibits complex mechano-electrochemical behaviour due to its anisotropy, inhomogeneity and material non-linearity. In this work, the thickness and radial dependence of cartilage properties are incorporated into a 3D mechano-electrochemical model to explore the relevance of heterogeneity in the behaviour of the tissue. The model considers four essential phenomena: (i) osmotic pressure, (ii) convective and diffusive processes, (iii) chemical expansion and (iv) three-dimensional through-the-thickness heterogeneity of the tissue.