Marat S. Asadulaev

BACKGROUND: One of the most important tasks and challenges of modern vertebrology is determining optimal approaches to the surgical treatment of children with congenital spinal deformities. The relevance of this issue is associated with characteristic features of the disease, including the formation and progression of pathological curvature, rapid and steady deterioration of the spinal column during the child's growth and development, formation of compensatory counter-curves, and a substantial reduction in quality of life and life expectancy in this category of patients. AIM: This work aimed to evaluate the efficacy and accuracy of patient-specific 3D-printed guide templates in the surgical correction of congenital thoracic and lumbar spinal deformities in preschool-aged children. METHODS: A comparative analysis of surgical outcomes was performed in 40 patients (aged 3–7 years) with isolated vertebral formation defects. The patients were divided into two groups: the main group (n = 20), in which pedicle screws were inserted using patient-specific 3D-printed guide templates, and the control group (n = 20), in which the freehand technique was used. The following parameters were assessed: operation duration, extent of fixation, accuracy of screw placement according to the Gertzbein–Robbins scale, and the degree of deformity correction measured using the Cobb method. RESULTS: In the main group, a significant reduction was observed in the time required for pedicle canal preparation (29.7 ± 4.2 s vs. 72.4 ± 6.8 s; p = 0.027) and screw insertion time (36.3 ± 3.5 s vs. 49.2 ± 5.2 s; p = 0.039), as well as a reduction in the extent of fixation (1.4 vs. 2.05 segments; p = 0.013). Accurate pedicle screw placement (grade 0) was achieved in 64.6% of cases in the main group and 23.3% in the control group (p 0.0001). Correction of kyphotic deformity was significantly greater when guide templates were used (p = 0.024). CONCLUSION: The use of patient-specific 3D-printed guide templates improves the accuracy of pedicle screw placement, reduces operation time and the extent of fixation, and ensures the safety and reproducibility of surgical correction of congenital spinal deformities in young children.

Остеохондрома грудопоясничного отдела позвоночника у пациентКИ с множественной экзостозной хондродисплазией: клиническое наблюдение

BACKGROUND: Surgical correction of scoliotic spinal deformities involving long-segment spinal fusion inevitably leads to changes in sagittal balance parameters, which may affect treatment outcomes in patients with scoliosis. This issue has been addressed only sporadically in the scientific data and requires further investigation. AIM: This study aimed to analyze the impact of spinal deformity surgical correction on sagittal balance parameters in adolescents with severe thoracic idiopathic scoliosis in the early postoperative period. METHODS: The study included 38 patients who underwent surgery between 2021 and 2025, which consisted of discectomy–apophysectomy at the apex of the main scoliotic curve, intraoperative halo traction, and correction and stabilization of the deformity using a posterior multisegmental pedicle screw instrumentation in a single surgical session. The inclusion criteria were as follows: idiopathic scoliosis with a primary thoracic curve; age 12–17 years; availability of standing full-spine radiographs in two projections obtained before and after surgery; and main scoliotic curve with a Cobb angle of more than 80°. The non-inclusion criteria included: congenital spinal, spinal canal, or spinal cord abnormalities; systemic musculoskeletal disorders; lower limb orthopedic condition; previous surgery on the spine, pelvic ring, or chest; poor-quality radiographs precluding reliable sagittal balance assessment; and refusal to participate in the study. Radiographic examination was performed preoperatively and 10–14 days after surgery. The regional and global sagittal balance parameters and frontal plane deformity characteristics were assessed. RESULTS: Deviations in global sagittal balance parameters (SSA, TPA, and SVA) were observed preoperatively in 11 of 38 patients (28.9%). After surgery, such deviations were observed in 2 patients (5.3%). Insufficient correction of the kyphotic component of the deformity was identified as a significant risk factor for the persistence of anterior sagittal imbalance after surgery in patients with severe idiopathic scoliosis. CONCLUSION: Surgery using the described approach achieves optimal global and regional sagittal balance parameters in most adolescents with severe idiopathic scoliosis. However, in cases of extremely severe deformities (Cobb angle 120–130°), which are characterized by a pronounced kyphotic component, techniques enabling greater correction of thoracic kyphosis should be considered.

BACKGROUND: Conradi–Hünermann syndrome, also called X-linked dominant chondrodysplasia punctata type 2, is a rare genetic disorder. Its prevalence ranges from 1:100,000 to 1:400,000 live births, with a 95% female predominance. In pediatric vertebrology, particular interest is drawn to kyphosis and kyphoscoliosis, which rapidly progress and lead to severe deformities. However, in Russian scientific data, only a few studies have investigated the diagnosis and treatment of this syndrome. CASE DESCRIPTION: This report presents the medical history and genetic and clinical–radiological findings of a 3-year-3-month-old child with Conradi–Hünermann syndrome. The results of surgical treatment are provided, and possible approaches for selecting surgical strategies are discussed. DISCUSSION: The development of severe spinal deformity (Cobb angle: 50°) in the frontal and sagittal planes in younger patients (aged 2–5 years) is an unfavorable prognostic factor. For such patients, prompt surgical correction of spinal deformity at an early age, along with stabilization of the achieved result using multi-anchor instrumentation, is crucial for preventing neurological deficits and the rapid progression of curvature during the child’s subsequent growth. CONCLUSION: Early clinical and genetic diagnosis is required in children with suspected Conradi–Hünermann syndrome. Monitoring of the patient’s orthopedic status allows for timely referral to a spine specialist. Treatment for progressive kyphoscoliosis should include early surgical intervention. Deformity correction and stabilization with multi-anchor instrumentation without early spinal fusion may be used, followed by staged corrections if warranted.

BACKGROUND: In recent years, the concept of sagittal balance has become increasingly important in the treatment of spinal deformities of various etiologies. However, the number of studies analyzing sagittal balance parameters in patients with idiopathic scoliosis is limited, especially those involving individuals with severe deformities. AIM: This study aimed to evaluate global and regional sagittal balance parameters in adolescents with severe thoracic idiopathic scoliosis. METHODS: The study included 45 patients aged 12–17 years diagnosed with thoracic idiopathic scoliosis (Lenke types 1, 2, and 3), presenting with a primary curve magnitude ranging from 80° to 150°, according to the Cobb method. Radiographic examinations were performed to assess both regional and global sagittal balance parameters, as well as characteristics of frontal plane spinal deformity. The patients were divided into two groups based on the global sagittal balance values. Descriptive, correlation, regression, and comparative statistical analyses of the data were conducted. RESULTS: A positive correlation was observed between the magnitude of frontal plane spinal deformity and thoracic kyphosis values. The regression analysis indicated that when the primary curve exceeded approximately 100°, thoracic kyphosis values tended to rise above 60°. Thoracic hyperkyphosis was the predominant sagittal deformity in these patients; however, neither thoracic kyphosis nor the primary curve magnitude in the frontal plane showed statistically significant correlation with any of the global sagittal balance indicators. These indicators correlated more strongly with spinopelvic parameters (pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), lumbar lordosis (LL), and PI–LL). CONCLUSION: Surgical treatment of severe idiopathic scoliosis should obligatorily consider correction methods that produce a corrective effect on the kyphotic component of the deformity. The development of pronounced anterior imbalance has been proven to be uncharacteristic for patients with thoracic idiopathic scoliosis, even with the largest primary curve magnitudes. The primary risk factors for its development were reduced PI and LL values. The development mechanism of the observed association in these patients remains unclear.

Introduction Congenital scoliosis is a multifactorial disease caused by abnormalities in vertebral development during embryogenesis. The TBX6 gene, located at locus 16p11.2, plays a key role in somitogenesis, and the heterozygous deletion is associated with the development of specific phenotypes of congenital scoliosis (TBX6-associated congenital scoliosis, TACS). Despite numerous studies on the role of TBX6 in the pathogenesis of congenital scoliosis, there is a paucity of data on the phenotypic manifestationsof heterozygous 16p11.2 deletion.The objective was to identify and confirm the TACS phenotype being associated with 16p11.2 deletions in the Russian patients.Material and methods A single-center retrospective cohort study included 187 patients diagnosed with congenital scoliosis treated at the Turner National Medical Research Center for Pediatric Orthopedics and Traumatology between 2012 and 2021. Heterozygous deletion (16p11.2 region) were verified using MQRT‑PCR. The deletion group consisted of 42 patients, and the control group included 145 probands. Clinical and radiological findings were reviewed to identify localization, type and multiplicity of vertebral anomalies and associated malformations. Descriptive statistics and Pearson's correlation coefficient were used for data processing.Results Heterozygous deletion of TBX6 was detected in 22.4 % of patients. The thoracic and lumbar spine were common localizations, while involvement of the cervical spine was not identified in the deletion group. Vertebral malformations were the most common anomaly in both study groups, but their prevalence was higher among patients with TBX6 deletion (50 % vs. 43.4 %). Multiple spinal malformations were more common in the deletion group (50 % vs. 35 %). Associated internal organ defects were less common in patients with deletion (31 % vs. 43.4 %), while rib synostoses and Sprengel's disease were more common.Discussion TACS is characterized by specific manifestations including multiple vertebral malformations in the thoracic and lumbar spine, rib synostoses and Sprengel's disease, which is consistent with the scientific literature.Conclusion The findings indicate the need to include genetic testing for TBX6 deletion in the diagnostic algorithm for congenital scoliosis to facilitate early detection and a personalized approach to treatment of this cohort of patients.

BACKGROUND: Congenital scoliosis is a multifactorial disorder resulting from disturbances during vertebral embryogenesis. Defects occurring at any stage of fetal development may lead to congenital scoliosis and progressive spinal deformity. Recent studies highlighted genetic factors as crucial determinants of the development of this condition. AIM: To review the sources on the genetic basis of congenital scoliosis, focusing on molecular regulatory mechanisms, mutation frequencies, and the contribution of specific genes. METHODS: Sources were retrieved using keyword searches in PubMed, Google Scholar, Cochrane Library, Web of Science, Lens.org, and eLibrary over the past 25 years. The inclusion criteria were full-text availability, meta-analyses, systematic reviews, cohort studies of patients with congenital scoliosis, experimental animal models, and case–control studies. The exclusion criteria included lack of full-text access, patents, utility models, and studies without clinical data. Finally, 54 publications were selected for detailed analysis. RESULTS: The identified genes were categorized into four: susceptibility genes (LMX1A, PTK7, SOX9, TBX6, and TBXT); genes wherein mutations directly cause syndromes or monogenic disorders associated with scoliosis (FBN1); genes with copy number variations (DHX40, DSCAM, MYSM1, and NOTCH2); and genes showing abnormal methylation in patients with scoliosis (COL5A1, GRID1, GSE1, RGS3, SORCS2, IGH1, IGH3, IGHM, KAT6B, and TNS3). CONCLUSION: Analysis of scientific sources revealed the presence of predisposing genetic factors associated with the development of congenital scoliosis in its various phenotypic forms. Data from large-scale studies clarified the etiological factors and were beneficial for predicting the course of congenital scoliosis, and findings from studies with smaller samples may help define future directions for identifying genetic determinants of this disorder.

BACKGROUND: Degenerative/dystrophic cartilage diseases are an epidemiologically important challenge in modern traumatology and orthopedics. The use of autologous mesenchymal stem cells to repair cartilage defects is currently the most promising treatment option. AIM: The aim of this paper was to review the literature on the use of adipose tissue-derived mesenchymal stem cells to repair articular cartilage defects in laboratory animals. MATERIALS AND METHODS: Recent and historical Russian and English literature was searched in Google Scholar, Cyberleninka, PubMed, eLibrary, Mendeley, Science Direct databases for over 20 years. A total of 113 papers were selected, and 25 papers that met the inclusion criteria were selected based on full-text materials and abstracts. RESULTS: Literature shows that autologous adipose-derived mesenchymal stem cells stimulate hyaline cartilage regeneration. The vast majority of studies show that the addition of both differentiated and undifferentiated cells accelerates cartilage repair, regardless of the composition of the vehicle matrix or gel. Adipose-derived mesenchymal stem cells can also be used as a stand-alone technology without any vehicles. CONCLUSIONS: There is still no ideal graft to restore cartilage tissue, despite a wide range of technologies, surgical techniques and materials for repairing cartilage defects. However, mesenchymal stem cells improve the rate of defect repair and may become a new therapeutic strategy for degenerative/dystrophic cartilage diseases.