Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt/ß-catenin signaling has been implicated in somite development, the function of Wnt/planar cell polarity (Wnt/PCP) signaling in this process remains unclear. Here, we investigated the role of Vangl1 and Vangl2 in vertebral development and found that their deletion causes vertebral anomalies resembling human CVMs. Analysis of exome sequencing data from multiethnic CS patients revealed a number of rare and deleterious variants in VANGL1 and VANGL2, many of which exhibited loss-of-function and dominant-negative effects. Zebrafish models confirmed the pathogenicity of these variants. Furthermore, we found that Vangl1 knock-in (p.R258H) mice exhibited vertebral malformations in a Vangl gene dose- and environment-dependent manner. Our findings highlight critical roles for PCP signaling in vertebral development and predisposition to CVMs in CS patients, providing insights into the molecular mechanisms underlying this disorder.

Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.

BACKGROUND: TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance. METHODS: We here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6. RESULTS: WES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman. CONCLUSIONS: This study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.

Influence of blood loss on cerebral oxygen saturation in paediatric patients undergoing surgery for scoliosis correction: A retrospective observational study.

AIM: Surgery for congenital scoliosis correction in children is often associated with considerable blood loss. Decrease in regional oxygen saturation (rScO2) can reflect insufficient cerebral perfusion and predict neurological complications. This retrospective observational study explored the relationship between blood loss during this surgery and a decrease in rScO2 in children. METHODS: The following clinical data of children aged 3-14 years who underwent elective posterior scoliosis correction between March 2019 and July 2021 were collected: age, sex, height, weight, baseline rScO2, basal mean invasive arterial pressure (MAP), preoperative Cobb angle, number of surgical segments, preoperative and postoperative haemoglobin level, percentage of lowest rScO2 below the baseline value that lasted 3 min or more during the operation (decline of rScO2 from baseline, D-rScO2%), intraoperative average invasive MAP, end-tidal carbon dioxide pressure, fluid infusion rate of crystalloids and colloids, operation time, and percentage of total blood loss/patient's blood volume (TBL/PBV). RESULTS: A total of 105 children were included in the study. Massive haemorrhage (TBL/PBV ≥50%) was reported in 53.3% of patients, who had significantly higher D-rScO2 (%) (t = -5.264, P < 0.001) than those who had non-massive haemorrhage (TBL/PBV <50%). Multiple regression analysis revealed that TBL/PBV (ß = 0.04, 95% CI: 0.018-0.062, P < 0.05) was significantly associated with D-rScO2%. CONCLUSIONS: Intraoperative massive blood loss in children significantly increased D-rScO2%. Monitoring should be improved, and timely blood supplementation should be performed to ensure maintenance of the blood and oxygen supply to vital organs, improve the safety of anaesthesia, and avoid neurological complications.

Comparison of traditional growth rods and magnetically controlled growing rods in early-onset scoliosis: a case-matched mid term follow-up study.

PURPOSE: Early-onset scoliosis (EOS) has always been a challenging situation for spine surgeons. The aim of treatment is to control the direction of curve progression to allow for the complete development of lungs. Among all the growth constructs available, traditional growth rods (TGR) and magnetically controlled growth rods (MCGR) are most widely used. The MCGR has been introduced a few years back and there is a dearth of long-term follow-up studies. The purpose of this study is to compare the effectiveness of TGR and MCGR for the treatment of EOS. METHODS: All patients of EOS managed with either TGR or MCGR were included in the study. The patients managed with other methods or having follow-up < 2-years were excluded from the study. A total of 20 patients were recruited in the MCGR group and 28 patients were recruited in the TGR group. Both groups were matched by etiology, gender, pre-operative radiological parameters, and complications including unplanned surgeries. RESULTS: The mean age in our study was 7.90 years in the MCGR group and 7.46 years in the TGR group. The mean duration of follow-up in the MCGR group was 50.89 months and in the TGR group 94.2 months. Pre-operative cobb's angle in the coronal plane and T1-S1 were comparable in both groups with a mean cobb's angle of 65.4 in MCGR and 70.5 in TGR. The mean T1-S1 length in the MCGR group was 36.1cms and in the TGR group was 35.2 cms (p = 0.18). The average increase in T1-S1 length was 1.3 cm/year in the TGR group and 1.1 cm/year in the MCGR group (p > 0.05). The TGR patients underwent 186 open lengthening surgeries and 11 unplanned surgeries for various complications. The MCGR group has 180 non-invasive lengthening with only 4 unplanned returns to OT for various causes. CONCLUSION: The curve correction was similar in both TGR and MCGR groups. The average T1-S1 length achieved on final follow-up was similar in both groups. The MCGR patients have attained similar correction with fewer invasive procedures and lesser complications compared to the TGR group.

Presence of compensatory curve predicts postoperative curve progression in congenital scoliosis after thoracolumbar hemivertebra resection and short fusion.

PURPOSE: To investigate the impact of preoperative compensatory curve on the postoperative curve progression in congenital scoliosis (CS) patients following thoracolumbar hemivertebra (HV) resection and short fusion. METHODS: This study retrospectively reviewed a consecutive cohort of patients with CS who underwent thoracolumbar HV resection and short fusion with a minimum of 2 years follow-up. According to the preoperative curve pattern, patients were divided into compensatory curve group non-compensatory curve group. Based on the postoperative coronal curve evolution, patients were further divided into the progressed group (Group P, with curve decompensation ≥ 20°) and the non-progressed group (Group NP, characterized by well-compensated curves). RESULTS: A total of 127 patients were included in this study, with 31 patients in the compensatory curve group and 96 patients in the non-compensatory curve group. The incidence of postoperative coronal curve progression was significantly higher in the compensatory curve group than that in non-compensatory curve group (35.5% vs. 13.5%, p = 0.007). In the compensatory curve group, patients who experienced postoperative curve progression showed fewer fusion segments (p = 0.001), greater preoperative UIV translation (p = 0.006), greater preoperative LIV tilt (p = 0.017), and larger postoperative UIV tilt (p < 0.001) compared with patients in group NP. Multiple logistic regression demonstrated that the shorter fusion segments and greater postoperative UIV tilt were two independent risk factors for postoperative curve progression. CONCLUSION: The presence of the compensatory curve was associated with a higher incidence of postoperative curve progression in patients with CS who underwent thoracolumbar HV resection and short fusion. Shorter fusion segments and greater postoperative UIV tilt were found to be the risk factors for postoperative curve progression.

Evaluation of the efficacy of posterior hemivertebrectomy combined with two or more segments fusion.

BACKGROUND: Although early hemivertebra (HV) resection and short fusion (within 4 segments) have been successful in treating congenital HV, there is limited research comparing the outcomes of the shortest-segment fusion (2 segments) versus 3 or 4 segments, particularly in young children. To evaluate the efficacy of posterior hemivertebrectomy combined with two or more segments fusion in children under the age of 10 years with a solitary simple lower thoracic or lumbar HV (T8-L5). METHODS: This retrospective study included patients under the age of 10 with lower thoracic or lumbar solitary simple HV who underwent hemivertebra resection (HVR) and transpedicular short fusion and were divided into HV ± 1 group (2 segment fusion) and HV ± 2 group (3 or 4-segment fusion). The study recorded preoperative, postoperative (1 week), and the latest follow-up radiographic parameters and complications. The results of the coronal and sagittal planes were analyzed, and the main curve, segmental scoliosis curve, compensatory scoliosis curve, segmental kyphosis curve, and trunk shift were compared. RESULTS: The study included 35 patients (15 in the HV ± 1 group and 20 in the HV ± 2 group) with a mean age of 5.26 ± 2.31 years and a mean follow-up of 22.54 months (12-68). The mean preoperative Cobb angle was 32.66° ± 7.339° (HV ± 1) and 29.31°±6.642° (HV ± 2). The final Cobb angle was 10.99°± 7.837° (HV ± 1) and 8.22° ± 4.295° (HV ± 2). The main curve corrected by 72% (HV ± 1), 75% (HV ± 2) postoperatively and 67% (HV ± 1), 72% (HV ± 2) at the final follow-up (P > 0.05). There were no significant differences in the correction of the segmental scoliosis curve, compensatory scoliosis curve, segmental kyphosis curve, and trunk shift between the HV ± 1 and HV ± 2 groups (P > 0.05). The unplanned reoperation rate for HV in the thoracolumbar region (T11-L2) is significantly higher (P = 0.038). CONCLUSION: In the context of solitary simple lower thoracic or lumbar HV (T8-L5), HV ± 1 segment fusion suffices and yields comparable correction outcomes in the midterm period when compared to HV ± 2. The reoperation rate exhibited a statistically significant increase in the thoracolumbar region.

Morphological analysis of isolated hemivertebra: radiographic manifestations related to the severity of congenital scoliosis.

PURPOSE: The natural history of congenital scoliosis (CS) caused by hemivertebra varies greatly. This study aimed to explore the association between the morphology of hemivertebra and the severity of CS, since the diagnosis of the hemivertebra. METHODS: Patients with isolated (single fully segmented) hemivertebra were enrolled. The degree and progression of deformity were compared by three morphological parameters of hemivertebra, comprising whether the width of hemivertebra extends across the central vertical line of lower adjacent vertebra (midline); the lateral height ratio (LHR, lateral height of hemivertebra× 2/(lateral height of HV-1 plus HV + 1) with the cut-point being 0.9; and the sagittal position of hemivertebra that was divided into the lateral and posterolateral group. RESULTS: In total, 156 patients (mean age 9.7 ± 6.2 years, 81 males) were enrolled. The number of thoracic, thoracolumbar (T12/13-L1), and lumbar hemivertebrae were 63, 41, and 52, respectively. Hemivertebrae across the midline had larger scoliosis and kyphosis (58.3 ± 20.6° vs. 42.8 ± 15.0°, P <  0.001; 45.1 ± 32.5° vs. 29.5 ± 25.7°, P = 0.013, respectively). Hemivertebrae with LHR ≥0.9 was associated with larger scoliosis (55.7 ± 20.6° vs. 41.4 ± 13.3°, P <  0.001). Larger scoliosis and kyphosis were observed in posterolateral hemivertebrae (54.4 ± 21.0° vs. 44.4 ± 15.6°, P = 0.026; 51.4 ± 31.5° vs. 20.6 ± 17.1°, P <  0.001, respectively). Co-occurrence of more than one of the three positive parameters above indicated higher annual progression (5.0 ± 2.2° vs. 3.3 ± 1.3°, P <  0.001). CONCLUSION: Three positive parameters, width across the midline, LHR ≥0.9, and posterolateral position were associated with a more severe deformity in patients with isolated hemivertebra. Hemivertebrae with more than one positive parameter may cause progressive deformity, and thus need prompt surgery. LEVEL OF EVIDENCE: Prognostic, level IV.

Delayed presentation of Wilkie's syndrome after scoliotic curve correction surgery: a case report.

BACKGROUND: Superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, is a rare but serious complication following scoliosis correction surgery. It occurs as a result of mechanical compression of third part of duodenum between the SMA and aorta. This condition occurs most commonly in significantly underweight patients with deformities, and usually during the first week following spinal deformity corrective surgeries. The angle between the abdominal aorta and the SMA gets reduced following spinal lengthening during deformity correction surgery causing compression of third part of duodenum resulting in development of SMA syndrome. CASE PRESENTATION: We present a case of 17-year-old male with congenital scoliosis with a 70-degree scoliotic curve who underwent spinal deformity correction surgery with posterior instrumented fusion. Post-operative course was uneventful and the patient was discharged after suture removal on post-operative day 15. The patient presented after 21-days of symptom onset on post-operative-day 51, with a 3 week history of post-prandial vomiting, abdominal pain and distension which resulted in rapid weight loss of 11 kg. A CT-angiogram showed obstruction at third part of duodenum. After reviewing clinical and radiological profile of the patient, a diagnosis of SMA syndrome was made. Conservative management was tried, but due to rapid deterioration of patient condition and symptoms of complete intestinal obstruction, the patient was treated surgically by gastro-jejunostomy and side-to-side jejuno-jejunostomy, which improved his condition. CONCLUSION: SMA syndrome can occur much later than previously reported cases and with potentially life-threatening symptoms following scoliosis correction. Having a high index of suspicion, early recognition of condition and institution of appropriate treatment are essential to prevent occurrence of severe complications including risk of intestinal perforation and mortality. This case highlights management of delayed onset of SMA syndrome, with presentation further delayed after symptom onset, as is common in developing parts of the world, due to limited availability and accessibility of resources, and low socio-economic status of large segments of the population.

Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.

PURPOSE: The main objective of this study was to assess the overall incidence of genitourinary anomalies in patients with congenital scoliosis by providing the highest level of evidence. The secondary objective was to look for associations and trends influencing the incidence. METHODS: A meta-analysis using PubMed, Embase, Scopus, and the Cochrane Collaboration Library database was carried out. We included studies focusing on patients with congenital scoliosis and genitourinary anomalies. The main outcome was the incidence of genitourinary anomalies in congenital scoliosis. We also collected the following data: patient gender, type of deformity (formation, segmentation, or mixed), deformity location, and associated anomalies. We included cohort studies. Data was extracted from published reports and combined using Review Manager 5.4. The quality of the included studies was assessed independently by two authors using the Methodological Index for Non-Randomized Studies (MINORS) criteria. RESULTS: A total of eight cohort studies were included from a pool of 2781 patients. The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91% (95% CI 13.39-32.43%). The incidence of surgically treated genitourinary anomalies was 13.92% (95% CI 4.54-23.31%). There were no differences related to gender (male 49.3% versus female 50.7%; p > 0.05). There were no differences regarding the type of deformity. The incidences of associated intraspinal, cardiac, musculoskeletal and craniofacial anomalies were 33.30%, 17.60%, 27.77% and 19.83% respectively. The most frequent genitourinary anomalies were: unilateral kidney (111/388); renal ectopia (50/367); obstructive uropathy (30/201), horseshoe kidney (30/313) and undescended testicle (16/180). CONCLUSIONS: The incidence of genitourinary anomalies associated with congenital scoliosis was 22.91%, and 13.92% were surgically treated. Unilateral kidney was the most common genitourinary abnormality. There were no differences between genders and deformity types. It is important to consider the association between genitourinary anomalies and intraspinal or musculoskeletal anomalies.

Ten-year trends in surgical management of 1207 congenital scoliosis.

PURPOSE: To report and analyze development trends in the surgical treatment of congenital scoliosis (CS) in a large CS cohort over a 10-year period. METHODS: We retrospectively searched and extracted medical records of CS inpatients receiving posterior instrumented fusion surgery at our institute from January 2010 to December 2019. We analyzed information on demographics and surgical information, including the surgical approach, number of fused segments, use of osteotomy and titanium cage implantation, length of stay, intraoperative blood loss, and rates of complications and readmission. RESULTS: 1207 CS inpatients were included. In the past decade, the proportion of patients younger than 5 years increased from 15.5 to 26.9%. The average number of fused segments decreased from 9.24 to 7.48, and the proportion of patients treated with short-segment fusion increased from 13.4 to 30.3%. The proportion of patients treated with osteotomy and titanium cage implantation increased from 55.65% and 12.03% to 76.5% and 40.22%. The average length of stay and blood loss decreased from 16.5 days and 816.1 ml to 13.5 days and 501.7 ml. The complication and readmission rates also decreased during these ten years. CONCLUSION: During this ten-year period, the surgical treatment of CS at our institute showed trends toward a younger age at fusion, lower number of fused segments, higher rate of osteotomy and titanium cage implantation, reduced blood loss, shorter length of stay and lower rate complications and readmission. These results suggest performing osteotomy combined with titanium cage implantation at an earlier age can achieve fewer fused segments and complications.

Incidence of cardiac anomalies in congenital vertebral deformity: systematic review and meta-analysis of 2910 patients.

PURPOSE: This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors. METHODS: PubMed, Embase, and Cochrane Library were searched for relevant studies. The quality of the studies was assessed independently by two authors using the methodological index for nonrandomized studies (MINORS) criteria. The following data were extracted from the included studies: bibliometric data, number of patients, number of patients with cardiac anomalies, gender, types of deformity, diagnostic method, type of cardiac anomaly, location, and other associated anomalies. The Review Manager 5.4 software was used to group and analyze all the extracted data. RESULTS: This meta-analysis included nine studies and identified that 487 of 2,910 patients with congenital vertebral deformity had cardiac anomalies diagnosed by ultrasound (21.05%, 95% CI of 16.85-25.25%). The mitral valve prolapse was the most frequent cardiac anomaly (48.45%) followed by an unspecified valvular anomaly (39.81) and an atrial septal defect (29.98). A diagnosis of cardiac anomalies was highest in Europe (28.93%), followed by USA (27.21%) and China (15.33%). Females and formation defects were factors significantly associated with increased incidence of cardiac anomalies: 57.37%, 95% CI of 50.48-64.27% and 40.76%, 95% CI of 28.63-52.89%, respectively. Finally, 27.11% presented associated intramedullary anomalies. CONCLUSIONS: This meta-analysis revealed that the overall incidence of cardiac abnormalities detected in patients with congenital vertebral deformity was 22.56%. The incidence rate of cardiac anomalies was higher in females and those with formation defects. The study offers guidance for ultrasound practitioners to accurately identify and diagnose the most common cardiac anomalies.

Unsuspected severe tracheal stenosis and tracheomalacia after correction surgery for congenital scoliosis: A case report.

Tracheal stenosis and tracheomalacia in patients with congenital scoliosis are serious and rare conditions caused by congenital dysplasia, postintubation injury, trauma, and tracheal tumor. Anesthesia of a child with tracheal stenosis is challenging for anesthesiologists. We describe an 8-year-old female patient developed severe tracheal stenosis and tracheomalacia after growing rod implantation for congenital scoliosis. Comprehensive assessment of preoperative pulmonary function and airway morphology, which can be neglected clinically, should be performed in congenital scoliosis patients.

The incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis.

BACKGROUND: Congenital scoliosis(CS) is associated with multiple organs defect, and cardiac abnormalities have been reported commonly associated with CS. Hemivertebra is caused by the failure of vertebral formation, which is a major constitute of CS. Till now, few studies focus on the incidence and interrelationship of hemivertebra and concomitant cardiac abnormalities in congenital scoliosis. We aimed to analyze the cardiac defect in CS patients with or without hemivertebra, and further explore the incidence of cardiac defect between different types of hemivertebra. METHODS: The ultrasonic cardiography (UCG) results of surgically treated congenital scoliosis (CS) patients between 2015 and 2018 were retrospectively analyzed. Patients were divided into hemivertebra group and non-hemivertebra group according to preoperative CT. Patients with hemivertebra was further divided into sub-group by single/multiple or fully/partially/mixed segmented hemivertebra. Demographic information, radiographic data and cardiac abnormalities were statistically compared between groups. RESULTS: A total of 329 patients were analyzed, including 216 patients with hemivertebra and 113 patients without hemivertebra. UCG results were abnormal in 89 cases (27.1%), including 41 males(12.5%) and 48 females(14.6%). Hemivertebra group had comparable incidence of cardiac abnormalities with non-hemivertebra group (p = 0.517). No significant difference in the incidence of UCG abnormalities between single and multiple hemivertebra group (P = 0.246). Binary logistic regression analysis showed that female sex with multiple hemivertebra was a risk factor for abnormal UCG (P = 0.009, OR = 3.449). Cardiac abnormalities was comparable among fully, partially and mixed segmented hemivertebra group(P = 0.264). In abnormal UCG, 33 patients with hemivertebra had non-valvular abnormalities, and 48.5% (16/33) were septal defects. 28 patients had valvular abnormalities, most of them were mitral valve abnormalities, especially mitral valve redundancy, prolapse and insufficiency(82.1%, 23/28). No significant difference between the incidence of non-valvular and valvular abnormalities in patients with hemivertebra (P = 0.581). CONCLUSIONS: The incidence of abnormal UCG results was approximately 28.2% in CS patients with hemivertebra. Female patients with multiple hemivertebra had a higher risk of UCG abnormalities. Mitral valve abnormalities were the most common abnormality of UCG found in CS patients with hemivertebra. TRIAL REGISTRATION: retrospectively registered.

Analysis of the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebrae resection and orthosis fusion.

BACKGROUND: To analyze the factors affecting the loss of correction effect in patients with congenital scoliosis after one stage posterior hemivertebra resection, orthosis, fusion and internal fixation. METHODS: Thirty-nine patients with congenital scoliosis (CS) who underwent one-stage posterior hemivertebra resection, orthosis, fusion and internal fixation were retrospectively included in Hebei Children's Hospital General demographic information of patients was collected. Preoperative and postoperative imaging indicators were compared, Including cobb Angle of the main curvature of the spine, segmental Cobb Angle, compensatory cephalic curve, compensatory curve on the caudal side, segmental kyphosis, coronal balance, sagittal balance, thoracic kyphosis, lumbar lordosis, and apical vertebra translation. Correlation analysis is used to evaluate the factors affecting the loss of judgment and correction effect, and the correlation indicators are included in the multi-factor Logistics regression. RESULTS: In terms of radiographic indicators in the coronal plane, compared to preoperative values, significant improvements were observed in postoperative Cobb Angle of main curve (8.00°±4.62° vs. 33.30°±9.86°), Segmental Cobb angle (11.87°±6.55° vs. 31.29°±10.03°), Compensatory cephalic curve (6.22°±6.33° vs. 14.75°±12.50°), Compensatory curve on the caudal side (5.58°±3.43° vs. 12.61°±8.72°), coronal balance (10.95 mm ± 8.65 mm vs. 13.52 mm ± 11.03 mm), and apical vertebra translation (5.96 mm ± 5.07 mm vs. 16.55 mm ± 8.39 mm) (all P < 0.05). In the sagittal plane, significant improvements were observed in Segmental kyposis Angle (7.60°±9.36° vs. 21.89°±14.62°, P < 0.05) as compared to preoperative values. At the last follow-up, Segmental kyphosis Angle (6.09°±9.75° vs. 21.89°±14.62°, P < 0.05), Thoracic kyphosis (26.57°±7.68° vs. 24.06°±10.49°, P < 0.05) and Lumbar lordosis (32.12°±13.15° vs. 27.84°±16.68°, P < 0.05) had statistical significance compared with the preoperative department. The correlation analysis showed that the correction effect of the main curve Cobb angle was correlated with fixed segment length (rs=-0.318, P = 0.048), postoperative segment Cobb angle (rs=-0.600, P < 0.001), preoperative apical vertebra translation (rs = 0.440, P = 0.005), and spinal cord malformation (rs=-0.437, P = 0.005). The correction effect of segmental kyphosis was correlated with age (rs = 0.388, P = 0.037). The results of the multivariate logistic regression analysis revealed that postoperative segmental Cobb angle > 10° (OR = 0.011, 95%CI:0.001-0.234, P = 0.004), associated spinal cord anomalies (OR = 24.369, 95%CI:1.057-561.793, P = 0.046), and preoperative apical translation > 10 mm (OR = 0.012, 95%CI:0.000-0.438, P = 0.016) were influential factors in the progression of the main curve Cobb angle. CONCLUSION: The one-stage posterior hemivertebra resection and short-segment corrective fusion with internal fixation are effective means to treat congenital scoliosis. However, attention should be paid to the loss of correction and curve progression during follow-up. Patients with spinal cord malformation and a large preoperative apical vertebra translation have a greater risk of losing the correction after surgery.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.

TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated with the 16p11.2 deletion syndrome. Heterozygous and biallelic variants in TBX6 are associated with vertebral and rib malformations (TBX6-associated congenital scoliosis) and spondylocostal dysostosis, and heterozygous TBX6 variants are associated with increased risk of genitourinary tract malformations. Combined skeletal and kidney phenotypes in individuals harboring heterozygous or biallelic TBX6 variants are rare. Here, we present seven individuals with vertebral and rib malformations and structural kidney differences associated with heterozygous TBX6 gene deletion in trans with a hypomorphic TBX6 allele or biallelic TBX6 variants. Our case series highlights the association between TBX6 and both skeletal and kidney disease.

Dermatomal somatosensory evoked potentials and cortical somatosensory evoked potentials assessment in congenital scoliosis.

BACKGROUND: The aim of this study was to assess the value of dermatomal somatosensory evoked potentials (DSEPs) and cortical somatosensory evoked potentials (SSEPs) in monitoring spinal cord function for patients with congenital scoliosis (CS). METHODS: This retrospective study reviewed the medical records of patients (n = 102) who underwent DSEP (T2-S1 dermatome), of whom 60 were normal subjects and 62 with congenital scoliosis. The study analyzed the latencies and peaks of N1-L, N1-R, P1-L and P1-R recorded by DSEPs of patients' thoracolumbar dermatomes. To observe the incidence of abnormal DSEPs and SSEPs in CS patients and to analyze the difference in sensitivity and reliability between the two in the examination of scoliosis patients. SPSS 22.0 statistical software package was used to analyze the data, and χ2 test and correlation analysis were used to indicate that the difference was statistically significant, p < 0.05. RESULTS: Sixty two patients with CS were evaluated with total spine magnetic resonance imaging (MRI). Only 23 patients (37.09%) showed spinal cord malformations in the MRI findings. The DSEP recordings showed a relatively high sensitivity (97.8%) compared to the abnormality rate of SSEPs recordings, and the rates of waveform, latency and amplitude abnormalities were much higher in DSEPs recordings (36.6, 36.3, 24.8%) than in SSEPs recordings (3.2, 22.5, 14.5%). The abnormality rate of DSEP records with and without neurological symptoms was higher than the abnormality rate of SSEP records (100% vs 20, 96.2% vs 44.2%, p<0.05). And in 62 patients with CS, the rate of positive MRI (37.1%) was lower than that recorded by DSEP (79.6% / 57.9%). p < 0.05. CONCLUSION: DSEPs are more sensitive to microscopic posterior column dysfunction in patients with CS that cannot be detected by either radiology or routine clinical examination. Preoperative DSEPs assessment is recommended as a baseline examination for intraoperative monitoring and comparison with the postoperative situation. DSEPs recording complements the information obtained from routine clinical and radiological evaluation.

Risk factors of postoperative pulmonary complications after primary posterior fusion and hemivertebra resection in congenital scoliosis patients younger than 10 years old: a retrospective study.

BACKGROUND: Postoperative pulmonary complications are common and associated with morbidity and mortality. Congenital scoliosis is a failure of vertebral formation and/or segmentation arising from abnormal vertebral development. Posterior fusion and osteotomy are necessary for these patients to prevent deterioration of spine deformity. The incidence of postoperative pulmonary complications in this specific group of patients, especially young children were unknown. METHODS: A retrospective study was conducted and electronic medical records of early-onset scoliosis patients who had primary posterior fusion and hemivertebra resection at our institution from January 2014 to September 2019 were reviewed. The demographic characteristics, the intraoperative and postoperative parameters were collected to identify the predictors of postoperative pulmonary complications. RESULTS: A total of 174 patients (57.5% boys) with a median age of 3 years old were included for analysis. Eighteen patients (10.3%) developed perioperative pulmonary complications and pneumonia (n=13) was the most common. History of recent upper respiratory infection was not related to postoperative pulmonary complications. Multifactorial regression analysis showed thoracoplasty was the only predictive risk factor of postoperative pulmonary complications. CONCLUSIONS: For congenital scoliosis patients younger than 10 years old, thoracoplasty determine the occurrence of postoperative pulmonary complications. Both surgeons and anesthesiologists should pay attention to patients undergoing thoracoplasty and preventive measures are necessary.

Abnormal TNS3 gene methylation in patients with congenital scoliosis.

BACKGROUND: Congenital scoliosis (CS) is a congenital deformity of the spine resulting from abnormal and asymmetrical development of vertebral bodies during pregnancy. However, the etiology and mechanism of CS remain unclear. Epigenetics is the study of heritable variations in gene expression outside of changes in nucleotide sequence. Among these, DNA methylation was described first and is the most characteristic and most stable epigenetic mechanism. Therefore, in this study, we aim to explore the association between genome methylation and CS which are not been studied before. METHODS: Two pairs of monozygotic twins were included, with each pair involving one individual with and one without CS. Agilent SureSelect XT Human Methyl-Sequencing was used for genome methylation sequencing. MethylTarget was used to detect methylation levels in target regions. Immunohistochemistry was performed to visualize expression of associated genes in candidate regions. RESULTS: A total of 75 differentially methylated regions were identified, including 24 with an increased methylation level and 51 with a decreased methylation level in the CS group. Nine of the differentially methylated regions were selected (TNS3, SEMAC3, GPR124, MEST, DLK1, SNTG1, PPIB, DEF8, and GRHL2). The results showed that the methylation level of the promoter region of TNS3 was 0.72 ± 0.08 in the CS group and 0.43 ± 0.06 in the control group (p = 0.00070 < 0.01). There was no significant difference in the degree of methylation of SEMAC3, GPR124, MEST, DLK1, SNTG1, PPIB, DEF8, or GRHL2 between the two groups. Immunohistochemistry showed significantly decreased TNS3 expression in the cartilage of the articular process in CS (CS: 0.011 ± 0.002; control: 0.018 ± 0.006, P = 0.003 < 0.01). CONCLUSION: Compared with the control group, high-level methylation of the TNS3 promoter region and low TNS3 expression in the cartilage layer of the articular process characterize CS. Thus, DNA methylation and TNS3 may play important roles in the pathogenesis of CS.

A review of the hemivertebrae and hemivertebra resection.

Hemivertebra (HV) is a congenital spinal abnormality. Most hemivertebrae have normal growth plates so create a progressive deformity with growth leading to asymmetric loads on adjacent vertebrae which also show an asymmetric growth. We review the condition and its treatment.

Lumbar hemivertebra resection in congenital scoliosis utilizing cone-beam navigation: less radiation, more accuracy-proof of concept.

PURPOSE: To present the first known pediatric utilization of cone-beam navigation system (CBNS) for hemivertebra resection and spondylodesis CASE PRESENTATION: A 14-year-old female with congenital scoliosis, diagnosed at 8 years of age, presenting with progressive symptoms, a Cobb angle (L3-5) of 38° at time of surgery, treated historically with conservative measures. Presence of spinal intramedullary disease was excluded prior to operation via whole spine MRI. RESULTS: Patient successfully underwent surgical correction utilizing the CBNS (O-arm™, Medtronic®). Post-operative Cobb angle (L3-5) was restored to 8°. Following four different pediatric patient's radiation exposures (two receiving correction via the O-arm platform and two via the traditional method employing fluoroscopy), we show a reduction in radiation exposure using the CBNS system. CONCLUSION: We present the first known pediatric case of the utilization of the CBNS system for hemivertebra correction. We demonstrate that utilizing the CBNS platform can not only increase surgical accuracy but also decrease pediatric patient's radiation exposure as a preoperative CT scan is not needed. Future studies should continue to explore additional benefits of implementing the system into surgical practice.