Use of Shear Wave Elastography in Pediatric Musculoskeletal Disorders

Muscle shear-wave elastography (SWE) is an exciting and rapidly evolving ultrasound technique that allows quantification of muscle stiffness with a non-invasive, non-painful and non-irradiating examination. It has the potential of wider clinical use due to relatively low-cost, providing real-time measurement and, especially for the pediatric population, taking less time and sedation/anesthesia-free. Research indicate that muscle SWE shows promise as an adjunct clinical tool for differentiating between a normal and an abnormal muscle, monitoring the effectiveness of therapeutic interventions, altering the therapeutic intervention, or deciding treatment duration. This chapter will aim to provide an overview of the knowledge about the using of muscle SWE in common pediatric musculoskeletal disorders such as Duchenne Muscular Dystrophy, Cerebral Palsy, Adolescent Idiopathic Scoliosis, and Congenital Muscular Torticollis in the light of current evidence

Short foot exercises have additional effects on knee pain, foot biomechanics, and lower extremity muscle strength in patients with patellofemoral pain.

BACKGROUND: Patellofemoral pain (PFP) is a common knee problem. The foot posture in a relaxed stance is reported as a distal factor of PFP. However, the effects of short foot exercise (SFE) on the knee and functional factors have not yet been investigated in patients with PFP. OBJECTIVE: This study aimed to investigate the additional effects of SFE on knee pain, foot biomechanics, and lower extremity muscle strength in patients with PFP following a standard exercise program. METHODS: Thirty patients with a ‘weak and pronated’ foot subgroup of PFP were randomized into a control group (ConG, n= 15) and a short foot exercise group (SFEG, n= 15) with concealed allocation and blinded to the group assignment. The program of ConG consisted of hip and knee strengthening and stretching exercises. SFEG program consisted of additional SFE. Both groups performed the supervised training protocol two times per week for 6 weeks. Assessment measures were pain visual analog scale (pVAS), Kujala Patellofemoral Score (KPS), navicular drop test (NDT), rearfoot angle (RA), foot posture index (FPI), and strength tests of the lower extremity muscles. RESULTS: Both groups displayed decreases in pVAS scores, but it was only significant in favor of SFEG. NDT, RA, and FPI scores decreased in SFEG whereas they increased in ConG. There was a significant group-by-time interaction effect in hip extensor strength and between-group difference was found to be significantly in favor of SFEG. CONCLUSIONS: An intervention program consisting of additional SFE had positive effects on knee pain, navicular position, and rearfoot posture. An increase in the strength of the hip extensors may also be associated with improved stabilization by SFE

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)