CINCA syndrome with surgical intervention for valgus deformity and flexion contracture of the knee joint: A case report.

Chronic infantile neurological, cutaneous, and articular (CINCA) syndrome is a systemic autoinflammatory disease caused by increased production of interleukin (IL)-1ß. We present a case of CINCA syndrome followed up to skeletal maturity. Joint contracture and valgus deformity of the knee had developed before diagnosis. Surgical interventions by soft tissue release and hemiepiphysiodesis improved the contracture and the deformity, and IL-1 receptor antagonist dramatically controlled systemic inflammation, and the patient lives without any disabilities.

Additive-manufactured patient-specific titanium templates for thoracic pedicle screw placement: novel design with reduced contact area.

PURPOSE: Image-based navigational patient-specific templates (PSTs) for pedicle screw (PS) placement have been described. With recent advances in three-dimensional computer-aided designs and additive manufacturing technology, various PST designs have been reported, although the template designs were not optimized. We have developed a novel PST design that reduces the contact area without sacrificing stability. It avoids susceptibility to intervening soft tissue, template geometric inaccuracy, and difficulty during template fitting. METHODS: Fourteen candidate locations on the posterior aspect of the vertebra were evaluated. Among them, locations that had high reproducibility on computed tomography (CT) images and facilitated accurate PS placement were selected for the final PST design. An additive manufacturing machine (EOSINT M270) fabricated the PSTs using commercially pure titanium powder. For the clinical study, 36 scoliosis patients and 4 patients with ossification of the posterior longitudinal ligament (OPLL) were treated with thoracic PSs using our newly developed PSTs. We intraoperatively and postoperatively evaluated the accuracy of the PS hole created by the PST. RESULTS: Based on the segmentation reproducibility and stability analyses, we selected seven small, round contact points for our PST: bilateral superior and inferior points on the transverse process base, bilateral inferior points on the laminar, and a superior point on the spinous process. Clinically, the success rates of PS placement using this PST design were 98.6 % (414/420) for scoliosis patients and 100 % (46/46) for OPLL patients. CONCLUSION: This study provides a useful design concept for the development and introduction of patient-specific navigational templates for placing PSs.

Treatment for unstable slipped capital femoral epiphysis: Current status and future challenge in Japan.

BACKGROUND: Treatment for unstable slipped capital femoral epiphysis (SCFE) is challenging and controversial. For many years, the debate centered around closed treatments and especially the pros and cons of manual reduction and its concrete procedure. However, recent studies reported on open treatments such as open reduction through an anterior approach and modified Dunn procedure. Being in a period of such transition, we investigated the current status and future challenge of treatment for unstable SCFE. METHODS: A questionnaire survey of medical institutions specializing in pediatric hip disorders across Japan was conducted. Survey items were the accurate diagnosis of physeal stability, the pre- and intra-operative evaluation of epiphyseal hemodynamics, and current treatment strategy. RESULTS: Survey responses returned from 29 out of 40 participant institutions (response rate: 73%) revealed that 55% of the institutions evaluated physeal stability based on clinical findings of ambulation capability in accordance with the Loder classification. Another 38% diagnosed physeal stability comprehensively by combining the Loder classification and imaging findings. Epiphyseal hemodynamics was assessed preoperatively in 18% of the institutions, effectively using angiography, contrast-enhanced magnetic resonance imaging (MRI), and bone scintigraphy. Intraoperative assessment was performed in 13% based on the bleeding through a drilling hole on the articular surface and observation of the cancellous bone color during open surgeries. As a treatment strategy, 52% of the institutions used in-situ fixation, while another 38% used manual reduction and internal fixation. On the other hand, open reduction was used at 3 institutions (the remaining 10%): the modified Dunn procedure at 2 institutions and arthrotomy at 1 institution. CONCLUSION: Treatment for unstable SCFE remains controversial, but closed treatments without hemodynamic monitoring is no longer the center of the controversy. Today, the topic of the discussion is shifting toward how to correlate hemodynamic findings with treatment procedures and the indications for open treatments.

Morphological Changes and Concentricity of the Hip Joint During Gradual Reduction in Infants with Late-Detected Developmental Dysplasia of the Hip: A Retrospective Study.

Background: The relationship between hip morphological changes and joint concentricity in infants with late-detected developmental dysplasia of the hip (DDH) treated with gradual reduction remains unclear. Therefore, we investigated hip morphological changes and concentricity in infants with late-detected unilateral DDH using magnetic resonance imaging (MRI) during gradual reduction. Methods: We enrolled 20 infants aged ≥ 12 months with unilateral DDH. Treatment comprised continuous traction, a hip-spica cast, and an abduction brace. MRI was performed before treatment, immediately after hip-spica cast placement, after cast removal, and at the end of the brace. We evaluated the acetabulum and femoral head morphology and joint concentricity. Results: The mean age was 25 months, and female sex and the left side were predominant. Before treatment, the acetabulum was small and shallow and the femoral head was spherically flat on the affected side. Immediately after the continuous traction, the affected acetabulum and femoral head were still smaller than the healthy/contralateral one. However, they improved to a deeper acetabulum and round femoral head. Intra-articular soft tissue (IAST) and femoral-acetabular distance (FAD) continuously decreased, indicating gradual improvement in joint concentricity. Deeper formation of the acetabulum and round shaping of the femoral head had occurred even in non-concentric reduction. Conclusion: The shape and concentricity of the hip joint improved after treatment; however, the acetabulum and femoral head remained small. The deeper acetabulum and round femoral head were observed the non-concentric reduction before the concentric reduction was achieved. The continuous decrease in IAST and FAD indicates effective post-traction therapy.

Grisel syndrome as a complication of Kawasaki disease: a case report and review of the literature.

UNLABELLED: Grisel syndrome is a non-traumatic atlantoaxial subluxation and a rare complication of any inflammatory condition of the upper neck and otolaryngological procedures. Delayed diagnosis causes neurological impairment, ranging from radiculopathy to paralysis and death. Kawasaki disease is a very frequent and important acute febrile vasculitis of childhood that is seen worldwide, and upper neck involvement (cervical lymphadenopathy) is one of the common symptoms of Kawasaki disease. A case of Grisel syndrome that occurred as a complication of Kawasaki disease is reported. This is the first case report, in English, of Grisel syndrome as a complication of Kawasaki disease. CONCLUSION: Pediatricians should be aware of Grisel syndrome as a possible complication of Kawasaki disease.

Early Breakage of All Proximal Locking Compression Screws under Non-weight-bearing Conditions after Derotational Femoral Osteotomy in a Child with Cerebral Palsy: A Case Report.

Introduction: The locking compression plate (LCP) system for pediatric hips has improved fixation and angular stability. Herein, we report a rare case in which all proximal locking compression screws were broken before weight bearing in the early post-operative period after derotational femoral osteotomy in a child with spastic cerebral palsy (CP). Case Report: Derotational femoral osteotomy was performed using a LCP system for a 9-year-old boy with spastic CP to correct excessive femoral anteversion, causing unstable toe-in gait. Proximal screw breakage was found 2 weeks postoperatively during hip-spica casting under non-weight-bearing conditions. Implant breakage was considered a result of the excessive spasticity of the lower limb. At the time of reoperation, shortening and varus correction of the femur and muscle tendon release were performed in addition to the refixation of the osteotomy. Intensive pain control was ensured, and anti-spastic medication and botulinum toxin injection were administered. Complete bone healing was successfully achieved 6 months after the second surgery. Conclusion: Surgeons need to consider the spasticity of the lower limb as a cause of implant failure. Management to reduce spasticity and mechanical load to the implant is important for preventing implant failures in patients with spastic CP.

Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.

Chondrodysplasias are hereditary diseases caused by mutations in the components of growth cartilage. Although the unfolded protein response (UPR) has been identified as a key disease mechanism in mouse models, no suitable in vitro system has been reported to analyze the pathology in humans. Here, we developed a three-dimensional culture protocol to differentiate hypertrophic chondrocytes from induced pluripotent stem cells (iPSCs) and examine the phenotype caused by MATN3 and COL10A1 mutations. Intracellular MATN3 or COL10 retention resulted in increased ER stress markers and ER size in most mutants, but activation of the UPR was dependent on the mutation. Transcriptome analysis confirmed a UPR with wide-ranging changes in bone homeostasis, extracellular matrix composition, and lipid metabolism in the MATN3 T120M mutant, which further showed altered cellular morphology in iPSC-derived growth-plate-like structures in vivo. We then applied our in vitro model to drug testing, whereby trimethylamine N-oxide led to a reduction of ER stress and intracellular MATN3.

The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases.

The aim of this study is to evaluate the complications of humeral lengthening and their associated factors. Fifty-four achondroplastic patients were treated by bilateral humeral lengthening. Our original shoulder sling was sufficient to prevent shoulder dislocation. Pre-existing radial head dislocation was observed in 18 patients. Lengthening was accomplished in all cases without a decrease in the elbow function. Seven humeri fractured after the fixator removal. The risk factors for postoperative fracture were a waiting period of less than 5 days, a healing index less than 25, and the concave shape of the callus. There was no radial nerve palsy.

1.0 s Ultrafast MRI in non-sedated infants after reduction with spica casting for developmental dysplasia of the hip: a feasibility study.

PURPOSE: The aim of this study was to first develop and use 1.0 s ultrafast magnetic resonance imaging (MRI) to confirm the location of the femoral head in non-sedated infants with developmental dysplasia of the hip (DDH) after reduction with spica cast application in clinical settings. METHODS: The ultrafast acquisition was achieved by employing a balanced steady-state free precession sequence and immobilizing the patient with dedicated sandbags. On completion of the ultrafast MRI study, all infants were sedated for conventional MRI scanning. Two orthopaedic surgeons retrospectively evaluated the image quality, result of the reduction and total MRI study time (including patient immobilization, coil setup, and scanning) in 14 DDHs of 13 infants (one with bilateral DDHs). RESULTS: Both reviewers stated that there were no motion artefacts for non-sedated infants during the ultrafast MRI and that the quality of both the ultrafast and conventional MRI images were acceptable to assess the femoral head location. Assessment of the reduction procedure resulted in two hips being categorized as 'incomplete reduction' requiring a re-reduction procedure. The total study time of ultrafast and conventional MRI was 6 ± 1 min and 14 ± 3 min, respectively (P < 0.001). No complications due to sedation, such as hypoxia, were reported. The average sedation waiting time was 1 h 25 min ± 34 min. CONCLUSION: The ultrafast MRI procedure reported here can be readily employed to confirm the location of the femoral head in infants with DDHs, without the use of any sedation.

Femoral head volume indicates the severity of developmental dysplasia of the hip by a method using three-dimensional magnetic resonance imaging.

The aims of this study were to quantify the femoral head volume (FHV) in developmental dysplasia of the hip (DDH) and to estimate its relation with the severity of the disease. Fifty-one patients (age range 2-11 months) with unilateral DDH were evaluated using three-dimensional MRI. The relation among FHV, age, severity, and displacement was investigated. The affected FHV gradually decreased according to severity. Cephalad displacement of the femoral head correlated negatively with FHV. This new approach showed severity-dependent growth disturbance of the femoral head. This quantification is a promising technique for understanding the pathology of DDH.

Multiple-echo data image combination in infants with developmental dysplasia of the hip: comparison with conventional T1-weighted and T2-weighted imaging.

Two-dimensional multiple-echo data image combination (MEDIC) images, as well as conventional T1-weighted and T2-weighted images, were obtained for 38 infants with developmental dysplasia of the hip. We retrospectively reviewed these images to evaluate subjective image quality and femoral head-to-ischium contrast. MEDIC images were considered to be of high quality compared with the conventional T1-weighted (P<0.0001) and T2-weighted images (P<0.05), as well as have a higher contrast than conventional T1-weighted and T2-weighted images (P<0.001, respectively). In conclusion, MEDIC images provide diagnostic improvement in studies on developmental dysplasia of the hip.