Profound hypoxemia and hypotension during posterior spinal fusion in a spinal muscular atrophy child with severe scoliosis: a case report.

BACKGROUND: Anesthesia for spinal muscular atrophy (SMA) patients undergoing spinal deformity surgery is challenging. We report an unusual case of an SMA girl who developed severe intraoperative hypoxemia and hypotension during posterior spinal fusion related with surgical positioning. CASE PRESENTATION: A 13-yr-old girl diagnosed with SMA type 2, severe kyphoscoliosis and thoracic deformity was scheduled for elective posterior spinal fusion. She developed severe hypoxemia and profound hypotension intraoperatively in the prone position with surgical table tilted 45° to the right. Though transesophageal echocardiography (TEE) could not be performed due to limited mouth opening, her preoperative computed tomography revealed a severely distorted thoracic cavity with much reduced volume of the right side. A reasonable explanation was when the surgeons performed surgical procedure with the tilted surgical table, the pressure was directly put on the shortest diameter of the significantly deformed thoracic cavity, causing severe compression of the pulmonary artery, resulting in both hypoxemia and hypotension. The patient stabilized when the surgical table was tilted back and successfully went through the surgery in the leveled prone position. CONCLUSIONS: Spinal fusion surgery is beneficial for SMA patients in preventing scoliosis progression and improving ventilation. However, severe scoliosis and thoracic deformities put them at risk of both hemodynamic and respiratory instability during surgical positioning. When advanced monitoring like TEE is not practical intraoperatively, preoperative imaging may help with differential diagnosis, and guide the surgical positioning to minimize mechanical compression of the thoracic cavity, thereby helping the patient complete the surgery safely.

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.

Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury.

Patients with spinal muscular atrophy (SMA) are susceptible to the respiratory infections and might be at a heightened risk of poor clinical outcomes upon contracting coronavirus disease 2019 (COVID-19). In the face of the COVID-19 pandemic, the potential associations of SMA with the susceptibility to and prognostication of COVID-19 need to be clarified. We documented an SMA case who contracted COVID-19 but only developed mild-to-moderate clinical and radiological manifestations of pneumonia, which were relieved by a combined antiviral and supportive treatment. We then reviewed a cohort of patients with SMA who had been living in the Hubei province since November 2019, among which the only 1 out of 56 was diagnosed with COVID-19 (1.79%, 1/56). Bioinformatic analysis was carried out to delineate the potential genetic crosstalk between SMN1 (mutation of which leads to SMA) and COVID-19/lung injury-associated pathways. Protein-protein interaction analysis by STRING suggested that loss-of-function of SMN1 might modulate COVID-19 pathogenesis through CFTR, CXCL8, TNF and ACE. Expression quantitative trait loci analysis also revealed a link between SMN1 and ACE2, despite low-confidence protein-protein interactions as suggested by STRING. This bioinformatic analysis could give hint on why SMA might not necessarily lead to poor outcomes in patients with COVID-19.

Multi-omic analysis suggests tumor suppressor genes evolved specific promoter features to optimize cancer resistance.

Tumor suppressor genes (TSGs) exhibit distinct evolutionary features. We speculated that TSG promoters could have evolved specific features that facilitate their tumor-suppressing functions. We found that the promoter CpG dinucleotide frequencies of TSGs are significantly higher than that of non-cancer genes across vertebrate genomes, and positively correlated with gene expression across tissue types. The promoter CpG dinucleotide frequencies of all genes gradually increase with gene age, for which young TSGs have been subject to a stronger evolutionary pressure. Transcription-related features, namely chromatin accessibility, methylation and ZNF263-, SP1-, E2F4- and SP2-binding elements, are associated with gene expression. Moreover, higher promoter CpG dinucleotide frequencies and chromatin accessibility are positively associated with the ability of TSGs to resist downregulation during tumorigenesis. These results were successfully validated with independent datasets. In conclusion, TSGs evolved specific promoter features that optimized cancer resistance through achieving high expression in normal tissues and resistance to downregulation during tumorigenesis.

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.

Adolescent Idiopathic Scoliosis: A Cross-Sectional Study.

Objective: Adolescent idiopathic scoliosis (AIS) can lead to right heart dysfunction. Inferior vena cava (IVC) diameter is an essential parameter of the right-heart function, but the relationship between scoliosis and the IVC diameter has not been established. This study aimed to investigate the correlation between the IVC diameter and the severity of AIS. Methods: This retrospective study examined the data from patients admitted to Peking Union Medical College Hospital between January 2000 and June 2014 with a diagnosis of AIS. A preoperative spine full-length standing X-ray was collected. The IVC diameter was measured during the expiration phase as a routine examination. Results: Among the 339 included patients, 269 had thoracic curves, and 311 had at least a thoracic or thoracolumbar curve. Significant correlations between the diameter of IVC and the coronal Cobb angle of main thoracic curves (r=0.142, P = .015) and thoracolumbar curves (r=0.580, P = .015) were observed. Regarding the possible confounding factors, the IVC diameter was also significantly correlated to body weight (r=0.327, P < .001) and body height (r=0.134, P = .014). In the partial correlation analysis correcting for body weight and height, the IVC inner diameter was correlated to the Cobb angle of the thoracic curve (r=0.172, P = .003) and the larger curve of either the thoracic or thoracolumbar curve (r=0.190, P = .001). Discussion: The result of this study implies that even in patients with mild scoliosis, there might already be underlying right heart function changes. Heart function should be taken into more consideration for AIS paitents. For patients with higher IVC diameters, a more throught cardiology assessment should be performed. Conclusion: The IVC diameter is positively correlated with the Cobb angle of thoracic curves or the larger one of thoracic or thoracolumbar curves in patients with AIS.

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).

BACKGROUND: Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10 years, conveys significant health risk to affected children. Identification of the molecular aetiology underlying patients with EOS could provide valuable information for both clinical management and prenatal screening. METHODS: In this study, we consecutively recruited a cohort of 447 Chinese patients with operative EOS. We performed exome sequencing (ES) screening on these individuals and their available family members (totaling 670 subjects). Another cohort of 13 patients with idiopathic early-onset scoliosis (IEOS) from the USA who underwent ES was also recruited. RESULTS: After ES data processing and variant interpretation, we detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese patients with EOS, including 8 patients with molecular confirmation of their clinical diagnosis and 84 patients with molecular diagnoses of previously unrecognised diseases underlying scoliosis. One out of 13 patients with IEOS from the US cohort was molecularly diagnosed. The age at presentation, the number of organ systems involved and the Cobb angle were the three top features predictive of a molecular diagnosis. CONCLUSION: ES enabled the molecular diagnosis/classification of patients with EOS. Specific clinical features/feature pairs are able to indicate the likelihood of gaining a molecular diagnosis through ES.

Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China.

PURPOSE: To report the clinical characteristics and surgical outcomes of scoliosis in patients with spinal muscular atrophy (SMA) from Mainland China. METHODS: Nineteen patients were retrospectively analyzed. Demographic, anthropometric and respiratory parameters were collected preoperatively. Surgical program was analyzed. Radiographic data were measured perioperatively. Motor status, ventilation support, sitting ability and respiratory symptoms were evaluated preoperatively and at final follow-up. RESULTS: Age at surgery was 17.08 (12.83, 20.08) years. More than 40% of patients were diagnosed with low weight. Pulmonary dysfunction was observed in all patients. All patients received posterior spinal fusion (PSF). Sacroiliac fixation with sacral-2 alar iliac technique was used in 16 patients. Major curve correction rate was 54.87 ± 16.14%. Pelvic obliquity correction rate was 63.84 ± 23.70%. T1-T12 height, space-available-for-lung ratio and thoracic transverse diameter were increased (p < 0.001). Percentage of patients capable of sitting independently increased from 26.32% preoperatively to 73.68% at final follow-up. Cumulative scores of sitting-related items in muscular dystrophy spine questionnaire improved from 19.11 ± 5.40 preoperatively to 26.21 ± 5.20 at final follow-up. Total scores of symptomatic domains in St. George's Respiratory Questionnaire decreased from 4 (2, 12) preoperatively to 1 (0, 3) at final follow-up. CONCLUSIONS: SMA patients in China always present severe scoliosis at late adolescence, accompanied with high proportion of low weight and pulmonary dysfunction. PSF is effective for the correction of scoliosis and pelvic obliquity and the improvement of thoracic morphology. Sitting ability and respiratory symptoms were improved postoperatively.

Effects of physiotherapeutic scoliosis-specific exercise in patients with mild juvenile scoliosis.

STUDY DESIGN: A combined retrospective and prospective analysis on the therapeutic effect of physiotherapeutic scoliosis-specific exercise (PSSE) in mild juvenile idiopathic scoliosis (JIS) patients. BACKGROUND: At present, patients with mild JIS are generally treated by observation without any interventional treatment. This study analyzed the effects of PSSE on mild JIS, which provided a new approach for the treatment of JIS. METHOD: A total of 52 patients with mild JIS (Cobb angle 10-19°), aged 4-9 years, self-selected into an observation group and a PSSE group. Patients performed the corrective posture exercises daily based on the Scientific Exercise Approach to Scoliosis (SEAS) to the best of their ability, and performed the over-corrective training based on Schroth methods for 30 min each day. Before and one year after the treatment, the Cobb angle and the angle of trunk rotation (ATR) were evaluated, and the results were compared between the two groups. RESULTS: After one year of treatment, the Cobb angle in the PSSE group decreased from 15.0(11.0-17.0)° to 5.0(2.0-12.0)°(p ≤ 0.001), while the Cobb angle in the observation group increased from 13.5(11.0-17.3)° to 16.0(10.8-20.0)° (p = 0.010). The ATR in the PSSE group decreased from 5.0(2.0-7.0)° to 3.0(2.0-4.0)° (p = 0.009), while the change of ATR in the observation group was not significant. Compared with the observation group, 69.57% of patients in PSSE group had a decreased Cobb angle of more than 5 degrees, which was statistically significant(p ≤ 0.001). CONCLUSION: For mild JIS, PSSE decreased the Cobb angle and ATR.

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.

Apical region correction and global balance: a 3-rods surgical strategy for the treatment of severe and rigid scoliosis.

BACKGROUND: The treatment of severe and rigid scoliosis is challenging. We developed a surgical strategy for severe and rigid scoliosis since 2014. This study aimed to retrospectively analyze the safety and efficacy of apical region correction and global balance with 3 rods as a surgical strategy for the treatment of severe and rigid scoliosis. METHODS: A retrospective study was performed for patients with severe and rigid scoliosis who underwent one-stage posterior corrective operation using the apical region correction and global balance with 3 rods surgical strategy between February 2014 and April 2020. The inclusion criteria were as follows: [1] Cobb angle > 90°; [2] flexibility < 30%; [3] a minimum 2-year follow-up. Patients were excluded if they had a history of traction or spinal surgery. Coronal and sagittal parameters, including Cobb angle, flexibility, apex vertebra translation, trunk shift (TS), thoracic kyphosis, lumbar lordosis, and sagittal vertical axis (SVA) were measured preoperatively, postoperatively and at the final follow-up. The Scoliosis Research Society 22-item questionnaire was administered preoperatively and at the final follow-up. During the operation, one slightly-bent short rod was placed into the concave side of apical region and correction was achieved by rod-rotation and distraction. Two pre-bent long rods were placed into both sides of the scoliosis and global balance was improved by leveling the proximal thoracic vertebrae and distal lumbar vertebrae. RESULTS: A total of 41 patients were included, with an average age of 20 years (range, 12-49 years) and follow-up of 34 months (range, 24-58 months). Postoperative correction rate was 53% for scoliosis. There were 14 patients with normal kyphosis before surgery, and 28 patients with normal kyphosis at the last follow-up. 88% of the patients (23/26) with preoperative coronal imbalance (TS > 20 mm) restored coronal balance at the final follow-up. 87% of the patients (14/16) with preoperative sagittal imbalance (SVA > 40 mm) restored sagittal balance at the final follow-up. The mean operation time and blood loss were 286 min and 941 mL, respectively. No patients had neurological complications or implant failure. CONCLUSION: The surgical strategy of apical region correction and global balance with 3 rods is a safe and effective alternative for the surgical treatment of severe and rigid scoliosis.

Role of melatonin in the dynamics of acute spinal cord injury in rats.

Melatonin is well-documented to have the ability of reducing nerve inflammation and scavenging free radicals. However, the therapeutic effect of melatonin on spinal cord injury has not been fully described. In this study, we assessed the effect of melatonin on T9 spinal cord injury established by Allen method in rats. Melatonin deficiency significantly delayed the recovery of sensory and motor functions in SCI rats. Treatment with melatonin significantly alleviated neuronal apoptosis and accelerated the recovery of spinal cord function. These results suggest that melatonin is effective to ameliorate spinal cord injury through inhibition of neuronal apoptosis and promotion of neuronal repair.

Posterior fossa decompression with or without duraplasty for patients with chiari type I malformation and basilar impression: a meta-analysis.

BACKGROUND: To compare clinical effect and safety between posterior fossa decompression with duraplasty (PFDD) and posterior fossa decompression without duraplasty (PFD) in treatment of Chiari type I malformation and basilar impression. METHODS: A comprehensive computer search was conducted from 2000 to 2019. The quality assessment was performed by the QUADAS-2 tool. The clinical value of comparison between PFDD and PFD was evaluated by using the pooled estimate of sensitivity and specificity. In addition, sensitivity analysis and bias analysis were applied to ensure the accuracy of the results. RESULTS: Finally, 468 patients were enrolled in 6 studies and ultimately met the eligibility criteria. The PFDD and PFD groups were 282 and 186, respectively. The meta-analysis showed no significant difference in the Chicago Chiari Outcome Scale (COSS score) (MD = 0.14, 95% CI [-0.23, 0.50], P = 0.47; P = heterogeneity = 0.86, I2 = 0%). Meanwhile, Significant difference existed in length of stay (MD = -1.08, 95% CI [-1.32, -0.84], P = 0.001; heterogeneity P < 0.000001, I2 = 85%) and complications (OR = 0.35, 95%CI [0.20, 0.62], P = 0.0003; P for Heterogeneity = 0.04, I2 = 56%). CONCLUSION: PFD is a more efficient and safer therapy than PFDD in the treatment of Chiari type I malformation with basilar impression.

Cross-sectional analysis of associated anomalies and vertebral anomaly location in 1289 surgical congenital scoliosis.

PURPOSE: This study systematically analyzed and assessed the interrelationships among vertebral anomaly location, congenital scoliosis (CS) type and associated abnormality prevalence. METHODS: We retrospectively extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010-December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram, urogenital ultrasound and systemic physical examination. We analyzed information on demographics, CS type, associated anomalies and vertebral anomaly location. RESULTS: Cervical, thoracic and lumbar vertebral anomalies were found in 5.7%, 78.1% and 33.6% of patients, respectively. 82.7% had one region involved. 59.5% with cervical malformations had mixed defects and 61.1% with lumbar malformations exhibited failure of formation. The musculoskeletal defect prevalence was 28.4%, 19.1% and 9.0% in patients with cervical, thoracic and lumbar anomalies. The intraspinal defect prevalence was 33.4% and 20.7% for thoracic and lumbar anomalies. 86.5% of patients with cervical anomalies had more than one region involved, while 78.1% and 62.2% with thoracic and lumbar anomalies, respectively, had only one region involved. CONCLUSIONS: Cervical malformations had higher prevalence of mixed defects, musculoskeletal and intraspinal defects and multi-region involved. Thoracic malformations had higher prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Lumbar vertebral malformation patients had much lower prevalence of intraspinal and musculoskeletal defects and more involvement of only one vertebral region. Cervical malformation was a risk factor for more associated anomalies and more severe vertebral anomalies, which deserves more attention from surgeons in outpatient clinic.

Combined topical and intravenous administration of tranexamic acid further reduces postoperative blood loss in adolescent idiopathic scoliosis patients undergoing spinal fusion surgery: a randomized controlled trial.

BACKGROUND: To indicate whether combined topical and intravenous (IV) administration of tranexamic acid (TXA) could further reduce the blood loss after surgery for adolescent idiopathic scoliosis (AIS) compared with IV-TXA alone. METHODS: Ninety AIS patients who underwent posterior spinal fusion were prospectively randomized to combined group (IV + topical- TXA group) and IV-TXA alone group. TXA was infused at a loading dose of 1 g from the beginning of the surgery with a maintenance dose of 10 mg/kg/h until the wound was closed. In the combined group, 2 g TXA was injected retrogradely through a drain, while an equivalent amount of normal saline was injected in the IV-TXA alone group. The drain tube was clamped for 2 h in both groups. The amount of wound drainage and transfusion rates were analyzed. RESULTS: The drainage volume and duration of drain were significantly lower in the combined group compared with that in the IV-TXA alone group (372.0 ± 129.7 mL vs. 545.2 ± 207.7 mL, P < 0.001;64.7 ± 13.9 h vs. 82.0 ± 12.5 h, P < 0.001). Postoperative length of hospital stay was also significantly shorter in the combined group (6.5 ± 1.51 days vs. 7.95 ± 1.44 days, P < 0.05). Transfusion and complication rates were comparable between the two groups . CONCLUSIONS: IV injection of TXA combined with retrograde injection of TXA into a drain and clamping it for 2 h could further reduce the total volume of drainage in AIS patients who underwent spinal fusion surgery. TRIAL REGISTRATION: Chinese Clinical Trial Registry: ChiCTR1900024177 , Registered 29 June 2019, http://www.chictr.org.cn/showproj.aspx?proj=40214.

Older fusion-surgery age in congenital scoliosis patients is a risk factor for extended length of stay, more estimated blood loss, longer fused segments and higher medical costs: a retrospective study.

BACKGROUND: Contradictory opinions about whether early correction and fusion surgeries should be performed for congenital scoliosis (CS) patients at a young age exist. The objectives of this study were to analyze the association between patient characteristics and fusion-surgery outcomes in CS patients treated with spinal correction and fusion surgeries and to report risk factors for extended length of stay (LOS), more estimated blood loss (EBL), longer fused segments and higher medical costs. METHODS: We analyzed data of 1,207 CS inpatients treated with fusion surgeries in our institute from January 2010 - December 2019. All patients underwent spinal X-ray, CT, MRI, echocardiogram and urogenital ultrasound. We analyzed demographic and clinical information and outcome measures, including LOS, EBL, fused segments and medical costs. RESULTS: Age at fusion (OR = 1.053; p < 0.001), musculoskeletal defects (OR = 1.670; p = 0.004) and thoracic deformity (OR = 1.519; p = 0.03) were risk factors for extended LOS. Age at fusion (OR = 1.117; p < 0.001), male sex (OR = 1.813; p < 0.001), mixed defects (OR = 1.662; p = 0.027) and failure of formation (OR = 1.718; p = 0.021) were risk factors for more EBL. Age at fusion (OR = 1.213; p < 0.001) was a risk factor for longer fused segments. Age at fusion (OR = 1.091; p < 0.001) and thoracic deformity (OR = 1.853; p = 0.004) were risk factors for higher medical costs. CONCLUSIONS: We found that older age at fusion in CS patients is a risk factor for extended LOS, more EBL, longer fused segments and higher medical costs with the risk increasing by 5-21 % for each year of age. Other identified risk factors include thoracic deformity for extended LOS; longer fused segments, higher medical costs, and musculoskeletal defects for extended LOS; and CS type (FF and MD) and sex (male) for more EBL.

Factors and predictive model associated with perioperative complications after long fusion in the treatment of adult non-degenerative scoliosis.

INTRODUCTION: Adult non-degenerative scoliosis accounts for 90% of spinal deformities in young adults. However, perioperative complications and related risk factors of long posterior instrumentation and fusion for the treatment of adult non-degenerative scoliosis have not been adequately studied. METHODS: We evaluated clinical and radiographical results from 146 patients with adult non-degenerative scoliosis who underwent long posterior instrumentation and fusion. Preoperative clinical data, intraoperative variables, and perioperative radiographic parameters were collected to analyze the risk factors for perioperative complications. Potential and independent risk factors for perioperative complications were evaluated by univariate analysis and logistic regression analysis. RESULTS: One hundred forty-six adult non-degenerative scoliosis patients were included in our study. There were 23 perioperative complications for 21 (14.4%) patients, eight of which were cardiopulmonary complications, two of which were infection, six of which were neurological complications, three of which were gastrointestinal complications, and four of which were incision-related complication. The independent risk factors for development of total perioperative complications included change in Cobb angle (odds ratio [OR] = 1.085, 95% CI = 1.035 ~ 1.137, P = 0.001) and spinal osteotomy (OR = 3.565, 95% CI = 1.039 ~ 12.236, P = 0.043). The independent risk factor for minor perioperative complications is change in Cobb angle (OR = 1.092, 95% CI = 1.023 ~ 1.165, P = 0.008). The independent risk factors for major perioperative complications are spinal osteotomy (OR = 4.475, 95% CI = 1.960 ~ 20.861, P = 0.036) and change in Cobb angle (OR = 1.106, 95% CI = 1.035 ~ 1.182, P = 0.003). CONCLUSIONS: Our study indicate that change in Cobb angle and spinal osteotomy are independent risk factors for total perioperative complications after long-segment posterior instrumentation and fusion in adult non-degenerative scoliosis patients. Change in Cobb angle is an independent risk factor for minor perioperative complications. Change in Cobb angle and spinal osteotomy are independent risk factors for major perioperative complications.

Growing-rod implantation improves nutrition status of early-onset scoliosis patients: a case series study of minimum 3-year follow-up.

BACKGROUND: Early onset scoliosis (EOS) may cause malnutrition in affected patients. Growing-rod treatment has been an effective protocol for treating EOS. The objective of this study is to demonstrate whether growing-rod treatment improves nutritional status of EOS patients. METHODS: Fifty-two EOS patients who had dual growing-rod surgery was enrolled. The minimum follow-up was 3-years. Their body weights were normalized based on the data of two National Population Census of China. Z-scores were used to indicate the standard deviation from the median body weight-for-age. RESULTS: The median follow-up time was 6 years. Preoperatively, the prevalence of malnutrition (Z < - 2) was 21.2%, and reduced to 9.6% at the end of the follow-up. Preoperatively, the average Z-score was - 0.94, and it increased to - 0.65 at the latest follow-up (p < 0.05). Patients with preoperative Z-score below - 1 had more significant increase of Z-scores (- 2.15 vs - 1.26, p < 0.001). A significant negative correlation between the change of Z-score and the preoperative Z-score (correlation coefficient - 0.65, p < 0.001). CONCLUSIONS: The growing rod surgery and lengthening procedures significantly improves the nutrition status of EOS patients. The body weight gains are more significant in patients with lower body weights.

Cross-sectional analysis and trend of vertebral and associated anomalies in Chinese congenital scoliosis population: a retrospective study of one thousand, two hundred and eighty nine surgical cases from 2010 to 2019.

PURPOSE: The objective of this article is to report associated anomaly incidences of a large CS cohort and analyze interrelationships among vertebral anomaly types and associated abnormalities. METHODS: We retrospectively searched and extracted medical records of 1289 CS inpatients surgically treated in our institute from January 2010 to December 2019. All patients have taken spine X-ray, CT, MRI, echocardiogram, urogenital ultrasound, and systemic physical examination. We analyzed information on demographics, CS types, and associated anomalies. RESULTS: CS type was found to be 49.1% for failure of formation (FF), 19.5% for failure of segmentation (FS), and 31.4% for mixed defects (MD). Intraspinal defects were found in 29.4% patients (16.0% for FF, 45.4% for FS, 40.5% for MD), cardiac in 13.7% (12.3% for FF, 14.3% for FS, 15.6% for MD), genitourinary in 5.8% (4.1% for FF, 6.0% for FS, 8.4% for MD), gastrointestinal in 3.6% (4.7% for FF, 1.6% for FS, 3.0% for MD), and musculoskeletal in 16.4% (10.3% for FF, 19.9% for FS, 23.7% for MD). The intraspinal and musculoskeletal defect incidences were significantly higher in patients with failure of segmentation and mixed defects. We also observed a decreasing trend for intraspinal and musculoskeletal defect incidences as well as a tendency for more failure of formation and less failure of segmentation from 2010 to 2019. CONCLUSIONS: The intraspinal and musculoskeletal defect incidences were higher in patients with failure of segmentation and mixed defects. Strong interrelationships were found between intraspinal and musculoskeletal defects and among cardiovascular, genitourinary, and gastrointestinal defects. From 2010 to 2019, the proportion of patients with failure of formation increased significantly, causing a decrease in the intraspinal and musculoskeletal defect incidences over time. Female sex, failure of segmentation, and mixed defects could be considered risk factors for more associated anomalies in CS individuals, which would help surgeons in medical management and prenatal consultation.

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

Congenital scoliosis (CS) is a birth defect with variable clinical and anatomical manifestations due to spinal malformation. The genetic etiology underlying about 10% of CS cases in the Chinese population is compound inheritance by which the gene dosage is reduced below that of haploinsufficiency. In this genetic model, the trait manifests as a result of the combined effect of a rare variant and common pathogenic variant allele at a locus. From exome sequencing (ES) data of 523 patients in Asia and two patients in Texas, we identified six TBX6 gene-disruptive variants from 11 unrelated CS patients via ES and in vitro functional testing. The in trans mild hypomorphic allele was identified in 10 of the 11 subjects; as anticipated these 10 shared a similar spinal deformity of hemivertebrae. The remaining case has a homozygous variant in TBX6 (c.418C>T) and presents a more severe spinal deformity phenotype. We found decreased transcriptional activity and abnormal cellular localization as the molecular mechanisms for TBX6 missense loss-of-function alleles. Expanding the mutational spectrum of TBX6 pathogenic alleles enabled an increased molecular diagnostic detection rate, provided further evidence for the gene dosage-dependent genetic model underlying CS, and refined clinical classification.