Vincent Cunin

Functional variants of POC5 identified in patients with idiopathic scoliosis

Idiopathic scoliosis (IS) is a spine deformity that affects approximately 3% of the population. The underlying causes of IS are not well understood, although there is clear evidence that there is a genetic component to the disease. Genetic mapping studies suggest high genetic heterogeneity, but no IS disease-causing gene has yet been identified. Here, genetic linkage analyses combined with exome sequencing identified a rare missense variant (p.A446T) in the centriolar protein gene POC5 that cosegregated with the disease in a large family with multiple members affected with IS. Subsequently, the p.A446T variant was found in an additional set of families with IS and in an additional 3 cases of IS. Moreover, POC5 variant p.A455P was present and linked to IS in one family and another rare POC5 variant (p.A429V) was identified in an additional 5 cases of IS. In a zebrafish model, expression of any of the 3 human IS-associated POC5 variant mRNAs resulted in spine deformity, without affecting other skeletal structures. Together, these findings indicate that mutations in the POC5 gene contribute to the occurrence of IS.

Tridimensional trunk surface acquisition for brace manufacturing in idiopathic scoliosis

AbstractIntroduction Brace manufacturing for idiopathic scoliosis requires trunk surface acquisition. Two methods are currently available to design the trunk shape: craft made technique based on a plaster mold and computer-aided design with 3-D reconstruction of the trunk by optical scanning. The objective of the present review was to compare these two methods.Methodology We describe the different steps to design and manufacture braces used for spinal deformities.ResultsOur prospective evaluation showed good results in terms of the correction achieved and regarding patients’ in-brace comfort.DiscussionOptical scanning for computer-aided design and manufacturing (CAD-CAM) of trunk orthoses have proven their effectiveness. These technologies may help in monitoring conservative treatment and may enhance the brace interaction with the spinal deformity when orthopedic treatment is indicated.

Fusionless surgery in early-onset scoliosis

BACKGROUND Surgical treatment of early-onset scoliosis has greatly developed in recent years. Early-onset scoliosis covers a variety of etiologies (idiopathic, neurologic, dystrophic, malformative, etc.) with onset before the age of 5 years. Progression and severity threaten respiratory development and may result in respiratory failure in adulthood. Many surgical techniques have been developed in recent years, aiming to protect spinal and thoracic development. MATERIAL AND METHODS Present techniques are based on one of two main principles. The first consists in posterior distraction of the spine in its concavity (single growing rod, or vertical expandable prosthetic titanium rib [VEPTR]), or on either side (dual rod); this requires iterative surgery, for lengthening, unless motorized using energy provided by a magnetic system. The second option is to use spinal growth force to lengthen the assembly; these techniques (Luque Trolley, Shilla), using a sliding assembly, are known as growth guidance. RESULTS These techniques are effective in controlling early scoliotic deformity, and to some extent restore spinal growth. However, they show a high rate of complications: infection, rod breakage, spinal fixation pull out and, above all, progressive spinal stiffness, reducing long-term efficacy. Respiratory gain is harder to assess, as thoracic expansion does not systematically improve respiratory function, particularly due to impaired compliance of the thoracic cage.

Slotted Acetabular Augmentation, Alone or as Part of a Combined One-stage Approach for Treatment of Hip Dysplasia in Adolescents With Cerebral Palsy: Results and Complications in 19 Hips

Background Surgical correction for the challenging combined deformities in hip dysplasia associated with cerebral palsy remains controversial. The purpose of this study was to assess the efficacy and determine the role of slotted acetabular augmentation (SAA) for the treatment of neuromuscular hip dysplasia in comparison with other treatment options. Methods We retrospectively analyzed 19 dysplastic hips in 19 patients with cerebral palsy who underwent SAA, alone or as part of a combined 1-stage approach, consisting of soft tissue lengthening and/or a proximal femoral osteotomy, during a 20-year period. Results The mean age at the time of operation was 14 years and 7 months (range: 12 to 17 years and 11 months). All had a closed triradiate cartilage. In 13 hips, preoperative radiographs showed major aspheric femoral head deformities. All had subluxation or dislocation of the hip and severe acetabular dysplasia, associated with a painful hip in 15 patients. Before operation, the mean migration index was 64±18%, the mean Sharp angle was 51±4 degrees, and the mean center-edge angle was −4±13 degrees. On immediate postoperative radiographs, they were 3±5%, 35±5 degrees, and 42±11 degrees. At final follow-up, the average migration index was 10±8%, the mean Sharp angle was 35±6 degrees, and the mean center-edge angle was 39±13 degrees. Eleven hips required soft tissue lengthening and 5 hips had a proximal femoral osteotomy at the time of the shelf procedure. At the latest follow-up (mean duration: 5 years and 5 months), 16 of the 19 hips remained anatomically reduced. Conclusions Our results suggest that SAA is a successful procedure to treat advanced neurogenic acetabular dysplasia with or without femoral head deformities in skeletally mature patients.

Diagnostic value of ultrasonography in elbow trauma in children: Prospective study of 34 cases

INTRODUCTION Among the various elbow injuries in children that initially have normal radiographs, a certain number of occult fractures are only diagnosed correctly after the fact, during a follow-up visit. PURPOSE This study evaluated the diagnostic contribution of ultrasonography in the treatment of acute elbow injuries in children and the strategic and economic impact of using this tool alongside radiography. MATERIALS AND METHODS During this prospective study performed between January 1 and April 1 2014, elbow ultrasonography was performed within 6 days in all children under 15 years of age with a suspected occult fracture. The ultrasonography exam looked for lipohemarthrosis, the posterior fat pad sign and cortical disruption. If no fracture was visible on ultrasonography, a removable splint was given to the patient to relieve pain, and no radiological or clinical follow-up was scheduled. The patients were contacted again at least 15 days later to determine whether an undetected fracture was present. Lastly, we evaluated the cost of treatment with and without ultrasonography in the cases where no fracture was diagnosed. RESULTS In 13 cases, ultrasonography revealed lipohemarthrosis and a fat pat sign, with cortical disruption also present in 11 of these cases. In two cases, the diagnosis was made based solely on the presence of lipohemarthrosis and a fat pat sign. There were seven lateral condyle fractures, two medial epicondyle fractures and two supracondylar fractures. Among the 21 patients with normal ultrasonography, no fracture was diagnosed later on. In patients without a fracture, using ultrasonography resulted in a cost savings of €29.10 per patient versus not using it. CONCLUSION In our study, ultrasonography is a sensitive examination for the diagnosis of occult elbow fractures in children. When the radiography and ultrasonography are both normal, the possibility of fracture can be rule out definitively, which reduces the need for immobilization, follow-up and treatment costs. The findings of this preliminary study should be validated with a larger prospective study.