| BackgroundCongenital scoliosis(CS)is the developmental deformity of vertebrae caused by abnormal somitogenesis in the early stage of embryo development.CS features early onset,rapid progression,severe deformity and more comorbidities and needs to be surgically treated.Many patients with CS have associated anomalies of cardiac,urogenital and gastrointestinal systems,which lead to more challenging surgeries for surgeons,and higher economic and mental burden for patients and their families.However,there is still a lack of large-sample studies on the Han population to clarify the clinical characteristics of CS associated anomalies and the effects and trends of surgical treatment.Therefore,we believe that comprehensive and systematic analysis of the large-sample CS cohort in the Han population and its clinical features and surgical treatment is of great significance.The etiology of CS is complex,and the specific pathogenic mechanism is unknown.At present,most scholars believe that CS is a complex disease that combines genetic and environmental factors.Previous studies have revealed a new genetic model caused by the combination of rare null mutations in TBX6 and common hypomorphic alleles,and it has been verified in a multi-center and multi-ethnic cohort,explaining about 10%of the causes of sporadic CS patients worldwide.This type of CS is called TBX6-associated congenital scoliosis(TBX6-associated congenital scoliosis,TACS).TACS patients have certain common clinical features:most TACS patients have failure of formation(hemivertebrae or butterfly vertebrae),the deformities located in the lower spine and involved fewer segments,and ribs with normal form or minor deformities.The incidence of intramedullary malformations is low in TACS patients;some studies have also established a TACScore prediction system through genome-phenotype association analysis to assess the risk of clinical TACS.However,previous studies focused on reporting the clinical phenotypic characteristics of TACS patients,and there is no relevant literature that reports the prognosis of surgical treatment of TACS patients.Therefore,to evaluate the effect of surgical treatment of TACS,and to explore the results of TBX6 related genetic research have important meanings for clinical translation.PurposesFirst part:To report associated anomaly incidences of the largest Chinese CS cohort and analyze interrelationships among vertebral anomaly types and associated abnormalities.Second part:To report and analyze the changes in CS surgical treatment of a large CS cohort during recent 10 years in a single center.Third part:To evaluate the prognostic characteristics of patients with TBX6-related CS for the first time,and to explore the clinical application of genetic research results.MethodsFirst part:We retrospectively searched and extracted medical records of 1,289 CS inpatients surgically treated in our institute from January 2010-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.Second part:We retrospectively searched and extracted medical records of 1,207 CS inpatients surgically treated in our institute from January 2010-December 2019.Patients who did not undertake posterior instrumented fusion surgeries were excluded.We compiled and analyzed information on demographics and extracted surgical information included surgery approach,fusion segments,osteotomy methods,titanium cage appliance,length of stay,blood loss during surgery,complication and readmission details.Third part:We performed genetic tests on the peripheral blood DNA samples of 473 cases of CS patients of Han nationality in our hospital from January 2017 to December 2019.A total of 48 cases of TBX6-associated congenital scoliosis were enrolled.With the method of propensity score matching,twenty-eight TACS patients were enrolled,and were matched with 28 NTACS patients according to gender,age,main curvature,CS classification,deformity segment,surgical procedure,fusion segment and number.All patients underwent posterior-only osteotomy and fusion.We also evaluated the coronal and sagittal X-ray parameters and surgical information(surgical method,fusion segment,blood loss,complications,etc.)before surgery,immediately after surgery,and at the final follow-up.The results of the assessment were compared and analyzed,and the prognostic characteristics of TACS were summarized.ResultsFirst part: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 2010-2019.Second part:1,207 inpatients were included in this study from 2010 to 2019.In the past decade,patients younger than 5 years old increased from 15.5%to more than 25%;The average fusion segments decreased from 9.24±4.29 segments to 7.48±4.02 segments and proportion of short-segment fusion increased from 13.4%to 30.3%;Osteotomy and titanium cage ratios increased from 55.65%and 12%to 76.5%and more than 40%,respectively;The average length of stay and average blood loss decreased from 16.5±5.6 days and 801.1 ±663.9ml to 13.5±4.1 days and 510.1 ±472.3ml.Complication and readmission rates also decreased during these ten years.Third part:Preoperative parameters like Gender,age,CS classification,deformity segment,surgical method,main curvature,cranial compensatory curve,caudal compensatory curve,thoracic kyphosis,thoracolumbar kyphosis,lumbar lordosis,coronal plane balance,sagittal plane balance,fusion segment and number of matched pairs between TACS group and NTACS group were similar.In the TACS group,the correction rate of cranial compensatory curve(63.0±1 8.8%vs.51.2±24.0%,P=0.046)and the correction rate of caudal compensatory curve(76.2±11.6%vs.65.0±24.1%,P=0.031)were significantly higher than the NTACS group,and the loss of correction of cranial compensatory curve in the TACS group(4.7±19.2%vs.28.8±50.8,P=0.023)was significantly lower than the NTACS group.The total complication rate(7.2%vs.14.3%),total loss of correction incidence(3.6%vs.10.7%)and the incidence of adding-on(0 vs.7.1%)in the TACS group were lower than those in the NTACS group.However,there were no significant differences between the two groups in terms of blood loss,revision,other correction parameters,balance parameters(coronal balance,sagittal balance,thoracic kyphosis,thoracolumbar kyphosis,lumbar lordosis)and the incidence of complications.ConclusionsFirst part: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 2010-2019,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.Second part:This study found that during recent ten years,the trends of CS surgical treatment in our institute included younger fusion age,shorter fusion segments,more osteotomies and titanium cages,less blood loss,shorter length of stay and lower rates of complications and readmissions.Our results suggested osteotomies at an earlier age can achieve good correction,shorter fusion,less medical cost with less complications,which suggest to be an economic,safe and effective surgical strategy.Third part:Although demographics,some scoliosis parameters and surgical parameters are similar,compared with NTACS patients,TACS patients have a higher postoperative correction rate of compensatory curves,less correction loss and a lower incidence of complications.There were no significant differences between the two groups in terms of correction parameters and balance parameters. |
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