Clin Case Rep

The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion

Ann Phys Rehabil Med

BACKGROUND: Epicondylar tendinopathy ("tennis elbow") is a serious issue in manual labourers. Symptoms can persist over months or even more than 1 year, even when treated with trinitrine patches, acupuncture, sclerosis of neovessels, shock-wave therapy, autologous blood injections, platelet-rich plasma or hyaluronic acid. Botulinum toxin (BoNT-A) injections showed promising short-term results, but the long-term beneficial effects are not yet known. OBJECTIVE: We aimed to assess the long-term effect, side effects and recurrence rate after BoNT-A injections on chronic lateral epicondylar tendinopathy during 1 year. METHODS: This open study followed a 3-month randomized controlled trial. We included 50 patients followed at day 0 (V0), 90 (V1), 180-270 (V2) and 365 (V3). The main judgment criterion was the number of BoNT-A injections required to achieve pain relief with no further request for treatment by the patient. RESULTS: After one BoNT-A injection, 22/50 (44%) patients did not ask for further treatment during follow-up because of complete pain relief, and 20/50 (40%) asked for a second BoNT-A injection. For 20 patients with a second injection, 18 (90%) did not ask for further treatment during follow-up. Only 1 patient had a recurrence of pain after an initial pain relief of greater than 75%. Quality of life, and painful and maximal gripping force improved significantly at V1, V2 and V3 as compared with V0, and repercussions on daily and professional activities decreased significantly (P<0.05). CONCLUSIONS: One or 2 BoNT-A injections has favourable results for chronic epicondylar tendinopathy

Validation of a methodology for neuro-urological and lumbosacral stimulation studies in domestic pigs: a humanlike animal model

OBJECTIVESpinal cord injuries (SCIs) result in loss of movement and sensory feedback, but also organ dysfunction. Nearly all patients with complete SCI lose bladder control and are prone to kidney failure if intermittent catheterization is not performed. Electrical stimulation of sacral spinal roots was initially considered to be a promising approach for restoring continence and micturition control, but many patients are discouraged by the need for surgical deafferentation as it could lead to a loss of sensory functions and reflexes. Nevertheless, recent research findings highlight the renewed interest in spinal cord stimulation (SCS). It is thought that synergic recruitment of spinal fibers could be achieved by stimulating the spinal neural networks involved in regulating physiological processes. Paradoxically, most of these recent studies focused on locomotor issues, while few addressed visceral dysfunction. This could at least partially be attributed to the lack of methodological tools. In this study, the authors aim to fill this gap by presenting a comprehensive method for investigating the potential of SCS to restore visceral functions in domestic pigs, a large-animal model considered to be a close approximation to humans.METHODSThis methodology was tested in 7 female pigs (Landrace pig breed, 45-60 kg, 4 months old) during acute experiments. A combination of morphine and propofol was used for anesthesia when transurethral catheterization and lumbosacral laminectomy (L4-S4) were performed. At the end of the operation, spinal root stimulation (L6-S5) and urodynamic recordings were performed to compare the evoked responses with those observed intraoperatively in humans.RESULTSNervous excitability was preserved despite long-term anesthesia (mean 8.43 +/- 1.5 hours). Transurethral catheterization and conventional laminectomy were possible while motor responses (gluteus muscle monitoring) were unaffected throughout the procedure. Consistent detrusor (approximately 25 cm H2O) and sphincter responses were obtained, whereas spinal root stimulation elicited detrusor and external urethral sphincter co-contractions similar to those observed intraoperatively in humans.CONCLUSIONSPigs represent an ideal model for SCS studies aimed at visceral function investigation and restoration because of the close similarities between female domestic pigs and humans, both in terms of anatomical structure and experimental techniques implemented. This article provides methodological keys for conducting experiments with equipment routinely used in clinical practice

Eur J Med Genet

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling