Spinal osteotomy for children with congenital scoliosis with unilateral unsegmented bar: Preliminary results

Introduction. Segmentation disorder of the lateral surfaces of the vertebral bodies leads to the development of progressive deformity of the spine. Surgical interventions in different variants are the only effective way of treatment. This study examines the use of corrective vertebrectomy in patients with congenital scoliosis with impaired segmentation of the lateral surfaces of the vertebral bodies. Objective of the study. To evaluate the results of surgical treatment of children with congenital scoliosis with impaired segmentation of the lateral surfaces of vertebral bodies. Materials and Methods. A single-center retrospective study on the basis of the Department of Spinal Pathology and Neurosurgery at the Turner Scientific and Research Center for Pediatric Traumatology and Orthopedics. G.I. Turner for the period from 2014 to 2020. Twenty-six patients were included in the study: 14 girls and 12 boys. The age range was 84 to 144 months. All patients underwent surgical intervention in the volume of a one-stage corrective wedge vertebrectomy. Statistical processing was performed by comparing the reliability of differences in distributions using Wilcoxon t-criterion. Results and discussion. The median Cobb preoperative scoliotic deformity was 31, interquartile interval (IQR) = 30.5. The median preoperative lordotic deformity was 29 Cobb, IQR = 29.5. The magnitude of correction of the scoliotic component of the deformity was 84%, (median value after intervention: 5 according to Cobb, IQR = 14.5). The magnitude of correction of pathological lordosis of the thoracic spine was 41%, (median value after intervention: 17 according to Cobb, IQR = 14.5). The obtained results were statistically significant (p 0.05). Conclusion. Corrective wedge vertebrectomy is an effective method for surgical treatment of children with congenital spinal deformity with impaired segmentation of the lateral surfaces of vertebral bodies. This method of treatment achieves an average of 84% correction of scoliotic deformity and 41% correction of pathological lordosis.

3D printed templates improve the accuracy and safety of pedicle screw placement in the treatment of pediatric congenital scoliosis

Background Three-dimensional (3-D) printed guidance templates are being increasingly used in spine surgery. The purpose of this study was to determine if 3D printed navigation templates can improve the accuracy of pedicle screw placement and decrease the complication rate compared to freehand screw placement in the treatment of children with congenital scoliosis. Methods The records of pediatric patients with congenital scoliosis treated at our hospital from January 2017 to January 2019 were retrospectively reviewed. Patients were divided into those where a 3D printed guidance templated was used and those in which the freehand method was used for pedicle screw placement. The accuracy rate of pedicle screw placement, surgical outcomes, and complications were compared between groups. Results A total of 67 children with congenital scoliosis were included (43 males and 24 females; mean age of 4.13 ± 2.66 years; range, 2–15 years). There were 34 children in the template-assisted group and 33 in the freehand group. The excellent accuracy rate of pedicle screw placement was significantly higher in the template-assisted group (96.10% vs. 88.64%, P = 0.007). The main Cobb angle and kyphosis angle were similar between the 2 groups preoperatively and postoperatively (all, P > 0.05), and in both groups both angles were significantly decreased after surgery as compared to the preoperative values (all, P < 0.001). The degree of change of the Cobb angle of the main curve and kyphosis angle were not significantly different between the 2 groups. There were no postoperative complications in the template group and 4 in the freehand group (0% vs. 12.12%; P = 0.009). All 4 patients with complications required revision surgery.

Surgical outcomes in children under 10 years old in the treatment of congenital scoliosis due to single nonincarcerated thoracolumbar hemivertebra: according to the age at surgery

Purpose Hemivertebra is one of the common pathogenesis of congenital scoliosis. The timing of operation is undefined. Our study compared the surgical outcomes in children under age 10 years with scoliosis due to single nonincarcerated thoracolumbar hemivertebra according to the age at surgery. Methods From January 2009 to August 2017, we retrospectively investigated 34 consecutive cases of congenital scoliosis treated by posterior hemivertebra resection and fusion with pedicle screw fixation. All cases were divided into two groups according to the age at surgery and followed-up for at least 2 years, group 1 (≤ 5 years old), and group 2 (5 to 10 years old). Results The mean Cobb angle of the main curve was improved from 48.58° to 15.53° (68.05%) in group 1, and from 43.73° to 11.33° (75.43%) in group 2. The segmental curve was improved from 44.16° to 11.53° (74.64%) in group 1, and the segmental curve was consistent with the main curve in group 2. The mean segmental kyphosis was improved from 27.50° to 8.42° (67.40%) in group 1, and from 29.00° to 5.00° (84.73%) in group 2. Five patients developed distal adding-on, and four patients were found proximal junctional kyphosis during the follow-up. Conclusion Not all the deformities caused by single nonincarcerated thoracolumbar hemivertebra would progress greatly with the spinal growth. No significant statistical differences were found in the coronal and sagittal correction rate between the two groups. A limited delayed surgery after 5 years but before 10 years of age with close follow-up can achieve satisfied results.

Rare Disease Curative Care Expenditure- Financing Scheme-Health Provider- Beneficiary Group Analysis — An Empirical Study in Sichuan Province, China

Background: Rare diseases impose heavy economic burdens on patients’ families and society worldwide. This study has used the samples from Sichuan Province of China to estimate the curative care expenditure(CCE) of ten rare diseases to provide reference and support for the prioritization of rare disease health policies. Methods: The multi-stage cluster sampling method was adopted to conduct a survey of 9714 rare disease patients from 1,556 medical institutions in Sichuan Province in 2018. Based on System of Health Accounts 2011, the study estimated the total curative care expenditure on rare diseases and identified financing sources and their allocation among different health institutions and the patient population. Results: In 2018, the total CCE of the ten rare diseases in Sichuan Province was 19.001 million US dollars; the top three rare diseases in terms of CCE were Hemophilia ($4.3786 million), Young-onset Parkinson Disease ($2.9627 million) , and Systemic Sclerosis ($2.4457 million); household out-of-pocket expenditure (86.00% for outpatients, 41.60% for inpatients) and social health insurance (7.85% for outpatients; 39.58% for inpatients) were the main sources of financing. The out-of-pocket expenditures for patients with Young-onset Parkinson Disease, Congenital Scoliosis, Autoimmune accounted for more than 60% of the total CCE. More than 80% of the rare disease CCE was incurred in general hospitals. The 40-59 age group consumed the highest percentage of CCE (38.70%) while men spent slightly more (55.37%) than women (44.64%). Conclusions: Since rare disease treatment is costly and household out-of-pocket expenditure is high, we suggest taking steps to include rare disease drugs in the National Reimbursement Drug List, scientifically design insurance coverage range. It is also necessary to explore a multi-tiered Healthcare Security System to pay for the CCE of rare diseases and to reduce the economic burdens of patients.

ANALYSIS OF THE CORRESPONDENCE OF THE FUNCTIONAL STATE OF ADOLESCENTS WITH SPINAL DEFORMITY OF VARIOUS ORIGINS

Аналогичный характер изменений физиологических параметров, чувствительной и двигательной сфер у подростков с идиопатическим и врождённым сколиозом может свидетельствовать о том, что причиной наблюдаемых изменений является не этиология заболевания, а недостаточный уровень моторной активности и процессы, связанные с развитием деформации позвоночника. The similar nature of changes in physiological parameters, sensory and motor spheres in adolescents with idiopathic and congenital scoliosis may indicate that the cause of the observed changes is not the etiology of the disease, but an insufficient level of motor activity and processes associated with the development of spinal deformity.

The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis

Depletion of ptk7 is associated with both congenital scoliosis (CS) and adolescent idiopathic scoliosis (AIS) in zebrafish models. However, only one human variant of PTK7 has been reported previously in a patient with AIS. In this study, we systemically investigated the variant landscape of PTK7 in 583 patients with CS and 302 patients with AIS from the Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. We identified a total of four rare variants in CS and four variants in AIS, including one protein truncating variant (c.464_465delAC) in a patient with CS. We then explored the effects of these variants on protein expression and sub-cellular location. We confirmed that the c.464_465delAC variant causes loss-of-function (LoF) of PTK7. In addition, the c.353C>T and c.2290G>A variants identified in two patients with AIS led to reduced protein expression of PTK7 as compared to that of the wild type. In conclusion, LoF and hypomorphic variants are associated with CS and AIS, respectively.

Diagnosis and treatment of congenital scoliosis

Background: Congenital scoliosis is caused by anomalies of the vertebra, such as hemivertebra or unsegmented bar, which result in asymmetric growth of the spine. The disruption of vertebra development during embryogenesis may be accompanied by other congenital multi-organ anomalies. The progression of the scoliotic curve may also hinder the development of other organs.Current Concepts: Hemivertebra excision and short spinal fusion have demonstrated favorable outcomes. However, the need for spinal growth and lung development has led to new treatment modalities. Growth-friendly surgeries, such as with a growing rod or vertical expandable rib-based distraction device, have demonstrated good results with curve correction while maintaining spinal growth. Although the outcome of conservative treatment for congenital scoliosis is questionable, casting may be effective as a “time-buying strategy” to delay the need for surgery.Discussion and Conclusion: It is essential to decide on a treatment plan considering the progression of the curve and growth of the spine and lungs through an individualized approach.

The influence of the TBX6 gene on the development of congenital spinal deformities in children

BACKGROUND: Congenital deformities of the spine are a group of serious congenital defects of the vertebrae, which can manifest themselves in the clinical picture as an isolated pathology of the axial musculoskeletal system, and are associated with congenital defects of internal organs and other systems. Recently, the TBX6 gene has been identified as the genetic cause of congenital scoliosis in about 11% of cases. This subtype of scoliosis is classified as TBX6-associated congenital scoliosis. The TBX6-associated congenital scoliosis phenotype is characterized by butterfly-shaped vertebrae and hemivertebrae in the lower thoracic and lumbar regions without pronounced malformations of the spinal cord. AIM: Our aim is to study and evaluate data from foreign and domestic scientific publications devoted to the study of the candidate gene for congenital scoliosis TBX6. MATERIALS AND METHODS: The following databases of scientific publications such as PubMed, Cochrane Library, Web of Science, SCOPUS, MEDLINE, e-Library, Cyberleninka were used to write this review. The inclusion criteria were systematic reviews, meta-analyses, multicenter studies, controlled cohort studies, uncontrolled cohort studies of patients with congenital spinal deformities. The exclusion criteria were clinical cases, observations, conference proceedings, congenital scoliosis in genetic syndromes, congenital scoliosis associated with defects of the nervous system. RESULTS: In order to achieve this goal, 70 scientific publications were studied relating to the data analysis of the candidate gene for congenital scoliosis TBX6. Among 49 publications that were identified, 2 were domestics, and the rest were foreign publications. These studies provided information on the molecular analysis of genes that cause congenital spinal deformities in humans and animals. CONCLUSIONS: An analysis of the published research work on this topic indicates the presence of a significant effect of mutations in the TBX6 gene, leading to the appearance of congenital scoliosis. Advances in elucidating the genetic contribution to the development of congenital spinal deformities and the molecular etiology of clinical phenotypes may uncover the opportunities for further refinement of the classification of signs of congenital scoliosis in accordance with the underlying genetic etiology.