Pub Date : 2024-10-22DOI: 10.1007/s43390-024-00989-7
Majid Rezvani, Mohammadreza Mehrabanian, Omid R Hariri, Colin Son, Noushin Vahdat, Mina Foroughi, Ariel Takayanagi, Sara Mirza, Sadegh Baradaran Mahdavi, Arman Sourani
Study design: A prospective case series.
Objective: To investigate the possible associations of multi-directional cervical kyphoscoliosis (CKS) with substance abuse and evaluate treatment outcomes. CKS is a rare medical situation without a well-established pathology. Still there are many obscurities in treatment paradigms and outcomes. To our knowledge, there is no published report on the association between CKS with addiction. Besides the novel report of such a rare etiology for CSK, the complexity of the neurosurgical treatment makes this report the first of its kind.
Methods: In this series, we presented three patients with a history of crack cocaine addiction who suffered CKS due to prolonged hand-over-neck posture and treated all of them with a complex neurosurgical protocol.
Results: All cases were operated on and restored their normal spine alignment. Their long-term outcomes showed independent neurological status with no major surgical complications.
Conclusion: Crack cocaine addiction might be associated with CKS in long-term cocaine abuse. A complex neurosurgical approach can achieve a sustainable clinical outcome.
{"title":"Cervical kyphoscoliosis due to substance abuse: a case series on introduction and neurosurgical treatment.","authors":"Majid Rezvani, Mohammadreza Mehrabanian, Omid R Hariri, Colin Son, Noushin Vahdat, Mina Foroughi, Ariel Takayanagi, Sara Mirza, Sadegh Baradaran Mahdavi, Arman Sourani","doi":"10.1007/s43390-024-00989-7","DOIUrl":"https://doi.org/10.1007/s43390-024-00989-7","url":null,"abstract":"<p><strong>Study design: </strong>A prospective case series.</p><p><strong>Objective: </strong>To investigate the possible associations of multi-directional cervical kyphoscoliosis (CKS) with substance abuse and evaluate treatment outcomes. CKS is a rare medical situation without a well-established pathology. Still there are many obscurities in treatment paradigms and outcomes. To our knowledge, there is no published report on the association between CKS with addiction. Besides the novel report of such a rare etiology for CSK, the complexity of the neurosurgical treatment makes this report the first of its kind.</p><p><strong>Methods: </strong>In this series, we presented three patients with a history of crack cocaine addiction who suffered CKS due to prolonged hand-over-neck posture and treated all of them with a complex neurosurgical protocol.</p><p><strong>Results: </strong>All cases were operated on and restored their normal spine alignment. Their long-term outcomes showed independent neurological status with no major surgical complications.</p><p><strong>Conclusion: </strong>Crack cocaine addiction might be associated with CKS in long-term cocaine abuse. A complex neurosurgical approach can achieve a sustainable clinical outcome.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142507398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-22DOI: 10.1007/s43390-024-00988-8
Yinyu Fang, Zhen Tian, Weibiao Li, Dongyue Li, Jie Li, Zongshan Hu, Yong Qiu, Zezhang Zhu, Zhen Liu
Purpose: This study aims to compare the composition of GM isolated from individuals with AIS or congenital scoliosis (CS) and age-matched control (Ctr).
Methods: A total of 48 patients with AIS, 24 patients with CS, and 31 healthy individuals were recruited as the discovery cohort, and 9 pairs of siblings where one was affected by AIS were recruited as the validation cohort. The GM profile was determined with 16S rRNA sequencing, and the alpha-diversity and beta-diversity metrics were performed with Mothur. Linear discriminant analysis (LDA) analysis was performed to identify the enriched species.
Results: The α diversity (Chao1 index) was significantly lower in AIS patients with low BMI (< 18.5) than those with normal BMI. The PcoA analysis showed a trend of clustering of GM in AIS compared to that in Ctr and CS groups (r2 = 0.0553, p = 0.001). METASTAT analysis showed Cellulomonadaceae was significantly enriched in AIS groups compared to CS and Ctr. LDA analysis showed 9 enriched species in AIS patients. Compared to Ctr, two species including Hungatella genus and Bacteroides fragilis were significantly enriched, while the Firmicutes versus Bacteroidetes (F/B) ratio and the Ruminococcus genus were significantly decreased in AIS but not CS groups. The significantly reduced F/B ratio and Ruminococcus genus in AIS were replicated in the validation cohort.
Conclusions: Our study elucidated an association between low BMI and GM diversity in AIS patients. The reduced F/B ratio and Ruminococcus genus in AIS patients were identified and validated in 9 pairs of AIS patients and their unaffected siblings. Our pilot results may help understand the anthropometric discrepancy in these patients and support a possible role of GM in the pathogenesis of AIS.
{"title":"Gut microbiota alterations in adolescent idiopathic scoliosis: a comparison study with healthy control and congenital scoliosis.","authors":"Yinyu Fang, Zhen Tian, Weibiao Li, Dongyue Li, Jie Li, Zongshan Hu, Yong Qiu, Zezhang Zhu, Zhen Liu","doi":"10.1007/s43390-024-00988-8","DOIUrl":"https://doi.org/10.1007/s43390-024-00988-8","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to compare the composition of GM isolated from individuals with AIS or congenital scoliosis (CS) and age-matched control (Ctr).</p><p><strong>Methods: </strong>A total of 48 patients with AIS, 24 patients with CS, and 31 healthy individuals were recruited as the discovery cohort, and 9 pairs of siblings where one was affected by AIS were recruited as the validation cohort. The GM profile was determined with 16S rRNA sequencing, and the alpha-diversity and beta-diversity metrics were performed with Mothur. Linear discriminant analysis (LDA) analysis was performed to identify the enriched species.</p><p><strong>Results: </strong>The α diversity (Chao1 index) was significantly lower in AIS patients with low BMI (< 18.5) than those with normal BMI. The PcoA analysis showed a trend of clustering of GM in AIS compared to that in Ctr and CS groups (r<sup>2</sup> = 0.0553, p = 0.001). METASTAT analysis showed Cellulomonadaceae was significantly enriched in AIS groups compared to CS and Ctr. LDA analysis showed 9 enriched species in AIS patients. Compared to Ctr, two species including Hungatella genus and Bacteroides fragilis were significantly enriched, while the Firmicutes versus Bacteroidetes (F/B) ratio and the Ruminococcus genus were significantly decreased in AIS but not CS groups. The significantly reduced F/B ratio and Ruminococcus genus in AIS were replicated in the validation cohort.</p><p><strong>Conclusions: </strong>Our study elucidated an association between low BMI and GM diversity in AIS patients. The reduced F/B ratio and Ruminococcus genus in AIS patients were identified and validated in 9 pairs of AIS patients and their unaffected siblings. Our pilot results may help understand the anthropometric discrepancy in these patients and support a possible role of GM in the pathogenesis of AIS.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142507401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-21DOI: 10.1007/s43390-024-00986-w
Julián Calcagni, Carlos A Tello, Lucas Piantoni, Rodrigo Remondino, Eduardo Galaretto, Juan Pablo Arispe, Mariano Noel
Purpose: There is no standardized and universally accepted surgical treatment for thoracic and lumbar hyperkyphosis in children. A surgical treatment algorithm was developed to aid in the choice of the appropriate corrective technique.
Methods: A retrospective analysis was conducted of patients younger than 18 years who underwent primary correction surgery and posterior fusion for thoracic and lumbar hyperkyphosis. Patients were categorized according to the classification of Rajasekaran et al. and divided into 2 groups: a posterior column osteotomies (PCO) group and a three-column osteotomies (3CO) group. We analyzed the angularity and flexibility of the curve, global sagittal balance, and preoperative neurological status of the patient.
Results: Forty-nine patients were included. The mean age was 12.8 years (1-18) and the mean preoperative kyphosis was 93.5° (40°-175°). In the PCO group (N = 30), the sagittal deformity angular ratio (DAR) was less than 16.5 in 26 patients (86.6%), while in the 3CO group (N = 19), sagittal DAR was greater than 16.5 in 17 patients (89.4%). In the PCO group (N = 28), the T1-Pelvic angle (TPA) was less than 17° in 19 patients (67.8%), while in the 3CO group (N = 15), TPA was greater than 17° in 10 patients (66.6%). Five patients (10.2%) had recent-onset or progressive neurological alteration, all of them (100%) required 3CO.
Conclusion: An algorithm for kyphosis was developed based on the classification by Rajasekaran et al., preoperative analysis of the angularity and flexibility of the curve, global sagittal balance and neurological status of the patient, to aid in the choice of the appropriate corrective osteotomy.
{"title":"Surgical treatment algorithm for thoracic and lumbar hyperkyphosis in pediatric population.","authors":"Julián Calcagni, Carlos A Tello, Lucas Piantoni, Rodrigo Remondino, Eduardo Galaretto, Juan Pablo Arispe, Mariano Noel","doi":"10.1007/s43390-024-00986-w","DOIUrl":"https://doi.org/10.1007/s43390-024-00986-w","url":null,"abstract":"<p><strong>Purpose: </strong>There is no standardized and universally accepted surgical treatment for thoracic and lumbar hyperkyphosis in children. A surgical treatment algorithm was developed to aid in the choice of the appropriate corrective technique.</p><p><strong>Methods: </strong>A retrospective analysis was conducted of patients younger than 18 years who underwent primary correction surgery and posterior fusion for thoracic and lumbar hyperkyphosis. Patients were categorized according to the classification of Rajasekaran et al. and divided into 2 groups: a posterior column osteotomies (PCO) group and a three-column osteotomies (3CO) group. We analyzed the angularity and flexibility of the curve, global sagittal balance, and preoperative neurological status of the patient.</p><p><strong>Results: </strong>Forty-nine patients were included. The mean age was 12.8 years (1-18) and the mean preoperative kyphosis was 93.5° (40°-175°). In the PCO group (N = 30), the sagittal deformity angular ratio (DAR) was less than 16.5 in 26 patients (86.6%), while in the 3CO group (N = 19), sagittal DAR was greater than 16.5 in 17 patients (89.4%). In the PCO group (N = 28), the T1-Pelvic angle (TPA) was less than 17° in 19 patients (67.8%), while in the 3CO group (N = 15), TPA was greater than 17° in 10 patients (66.6%). Five patients (10.2%) had recent-onset or progressive neurological alteration, all of them (100%) required 3CO.</p><p><strong>Conclusion: </strong>An algorithm for kyphosis was developed based on the classification by Rajasekaran et al., preoperative analysis of the angularity and flexibility of the curve, global sagittal balance and neurological status of the patient, to aid in the choice of the appropriate corrective osteotomy.</p><p><strong>Level of evidence: </strong>IV.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142474266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-18DOI: 10.1007/s43390-024-00987-9
Jean-Marc Mac-Thiong, Bahe Hachem, Julien Clin, Franck Le Naveaux, Stefan Parent
Purpose: Apical stress redistribution (ASR) is proposed to mitigate failure risks after anterior vertebral body tethering for adolescent idiopathic scoliosis. It consists in releasing set-screws at peri-apical levels following curve tensioning to redistribute stresses within the construct. This study determines the biomechanical impact and curve correction obtained with ASR.
Methods: Finite element models of anterior vertebral body tethering were constructed for three typical scoliotic patients with Lenke 1 curves. ASR was simulated by releasing tension on the cable at the level of the three apical set screws (i.e. untightening three consecutive periapical set screws), followed by retightening of the set screws without further tensioning. Cable tension, implant forces and spine geometry were compared before and after performing ASR.
Results: Periapical cable tension decreased post-ASR, and ASR also reduced the maximum tensions proximally and distally. Postoperative disc height was similar between conventional and ASR approaches. Apical intervertebral disc stresses were shifted from concave to convex compression intra and postoperatively, with a similar pattern between the conventional and ASR techniques. The ASR technique achieved scoliotic curve corrections of 54%, 68%, and 79%, while the conventional technique resulted in corresponding corrections (54%, 68%, and 80%) for subjects 1, 2, and 3. The periapical coronal curves exhibited similar patterns.
Conclusion: ASR demonstrated promising apical cable and implant forces re-equilibrium compared to the conventional approach. This novel technique did not impair immediate and postoperative curve correction, while maintaining similar apical intervertebral stress distribution. ASR shows potential to modulate growth while reducing maximum cable tension infra- and supra-apical.
目的:为降低青少年特发性脊柱侧凸椎体前部系带术后的失败风险,提出了椎体顶端应力再分布(ASR)。它包括在曲线拉伸后释放椎体根尖周围的固定螺钉,以重新分配结构内的应力。本研究确定了 ASR 的生物力学影响和曲线矫正效果:方法:为三名典型的 Lenke 1 型脊柱侧凸患者建立了椎体前部系带的有限元模型。模拟 ASR 的方法是在三个根尖固定螺钉处释放缆线张力(即松开三个连续的根尖周围固定螺钉),然后重新拧紧固定螺钉,不再进一步张力。对 ASR 前后的拉线张力、种植体力和脊柱几何形状进行比较:结果:ASR术后根尖周围缆线张力降低,ASR也降低了近端和远端的最大张力。传统方法和 ASR 方法的术后椎间盘高度相似。椎间盘顶端的应力在术中和术后从凹向压缩转变为凸向压缩,传统方法和ASR方法的模式相似。ASR技术对脊柱侧弯的矫正率分别为54%、68%和79%,而传统技术对受试者1、2和3的矫正率分别为54%、68%和80%。根尖冠周曲线表现出相似的模式:与传统方法相比,ASR 显示出良好的根尖拉线和种植体力再平衡效果。这种新技术不会影响术中和术后的曲线矫正,同时还能保持相似的根尖椎间应力分布。ASR显示出调节生长的潜力,同时降低了心尖下和心尖上的最大缆线张力。
{"title":"Apical stress redistribution during anterior vertebral body tethering for thoracic adolescent idiopathic scoliosis: a finite element analysis of a novel surgical technique.","authors":"Jean-Marc Mac-Thiong, Bahe Hachem, Julien Clin, Franck Le Naveaux, Stefan Parent","doi":"10.1007/s43390-024-00987-9","DOIUrl":"https://doi.org/10.1007/s43390-024-00987-9","url":null,"abstract":"<p><strong>Purpose: </strong>Apical stress redistribution (ASR) is proposed to mitigate failure risks after anterior vertebral body tethering for adolescent idiopathic scoliosis. It consists in releasing set-screws at peri-apical levels following curve tensioning to redistribute stresses within the construct. This study determines the biomechanical impact and curve correction obtained with ASR.</p><p><strong>Methods: </strong>Finite element models of anterior vertebral body tethering were constructed for three typical scoliotic patients with Lenke 1 curves. ASR was simulated by releasing tension on the cable at the level of the three apical set screws (i.e. untightening three consecutive periapical set screws), followed by retightening of the set screws without further tensioning. Cable tension, implant forces and spine geometry were compared before and after performing ASR.</p><p><strong>Results: </strong>Periapical cable tension decreased post-ASR, and ASR also reduced the maximum tensions proximally and distally. Postoperative disc height was similar between conventional and ASR approaches. Apical intervertebral disc stresses were shifted from concave to convex compression intra and postoperatively, with a similar pattern between the conventional and ASR techniques. The ASR technique achieved scoliotic curve corrections of 54%, 68%, and 79%, while the conventional technique resulted in corresponding corrections (54%, 68%, and 80%) for subjects 1, 2, and 3. The periapical coronal curves exhibited similar patterns.</p><p><strong>Conclusion: </strong>ASR demonstrated promising apical cable and implant forces re-equilibrium compared to the conventional approach. This novel technique did not impair immediate and postoperative curve correction, while maintaining similar apical intervertebral stress distribution. ASR shows potential to modulate growth while reducing maximum cable tension infra- and supra-apical.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142474252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-17DOI: 10.1007/s43390-024-00984-y
Adam S Friedman, Manisha Koneru, Pietro Gentile, David Clements
Purpose: Patients with adolescent idiopathic scoliosis (AIS) are either managed with non-operative strategies or surgery depending on the severity of lateral curvature and impact on quality of life. However, supportive evidence for the appropriate treatment approach is lacking in AIS patients with Cobb angles between 40 and 50 degrees. Therefore, we investigated differences in long-term patient-centered outcomes in AIS patients with Cobb angles between 40 and 50 degrees who received either operative or non-operative management.
Methods: A total of 919 patients aged 10-21 years old with adolescent idiopathic scoliosis and 40-50 degree Cobb angles were identified from the HARMS Study Group (HSG) registry and dichotomized based on operative or non-operative management. Baseline and 2 year follow-up SRS-22 scores from these patients were analyzed for significant differences between the total score values, domain values, and the magnitude of score change over time using multiple comparisons analyses. Multivariable regressions adjusting for age, body mass index, location of spinal deformity, and management strategy were also performed.
Results: Operative versus non-operative strategy was significantly, independently associated with differences in SRS-22 total and domain scores over time (effect likelihood ratio test, p < 0.03 for all regressions). Operatively managed patients had significantly greater improvement in SRS-22 total and domain scores over the follow-up duration compared to non-operatively managed patients (p < 0.02 for all comparisons).
Conclusions: This preliminary analysis suggests that operatively managed patients may have had better long-term outcomes than non-operatively managed patients within this AIS subpopulation. These findings support the need for further prospective investigation to determine the optimal management strategy to improve evidence-based, patient-reported outcomes for AIS patients with Cobb angles between 40 and 50 degrees.
{"title":"Investigating the long-term outcomes and efficacy of surgical intervention in patients with adolescent idiopathic scoliosis and Cobb angles ranging between 40 and 50 degrees.","authors":"Adam S Friedman, Manisha Koneru, Pietro Gentile, David Clements","doi":"10.1007/s43390-024-00984-y","DOIUrl":"https://doi.org/10.1007/s43390-024-00984-y","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with adolescent idiopathic scoliosis (AIS) are either managed with non-operative strategies or surgery depending on the severity of lateral curvature and impact on quality of life. However, supportive evidence for the appropriate treatment approach is lacking in AIS patients with Cobb angles between 40 and 50 degrees. Therefore, we investigated differences in long-term patient-centered outcomes in AIS patients with Cobb angles between 40 and 50 degrees who received either operative or non-operative management.</p><p><strong>Methods: </strong>A total of 919 patients aged 10-21 years old with adolescent idiopathic scoliosis and 40-50 degree Cobb angles were identified from the HARMS Study Group (HSG) registry and dichotomized based on operative or non-operative management. Baseline and 2 year follow-up SRS-22 scores from these patients were analyzed for significant differences between the total score values, domain values, and the magnitude of score change over time using multiple comparisons analyses. Multivariable regressions adjusting for age, body mass index, location of spinal deformity, and management strategy were also performed.</p><p><strong>Results: </strong>Operative versus non-operative strategy was significantly, independently associated with differences in SRS-22 total and domain scores over time (effect likelihood ratio test, p < 0.03 for all regressions). Operatively managed patients had significantly greater improvement in SRS-22 total and domain scores over the follow-up duration compared to non-operatively managed patients (p < 0.02 for all comparisons).</p><p><strong>Conclusions: </strong>This preliminary analysis suggests that operatively managed patients may have had better long-term outcomes than non-operatively managed patients within this AIS subpopulation. These findings support the need for further prospective investigation to determine the optimal management strategy to improve evidence-based, patient-reported outcomes for AIS patients with Cobb angles between 40 and 50 degrees.</p><p><strong>Level of evidence: </strong>Level III.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142474265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-15DOI: 10.1007/s43390-024-00979-9
Steven de Reuver, Worrawat Engchuan, Nickie Safarian, Mehdi Zarrei, Jacob A S Vorstman, René M Castelein, Elemi J Breetvelt
Introduction: Adolescent idiopathic scoliosis (AIS) and schizophrenia (SCZ) are two distinct conditions with poorly understood aetiologies that both emerge in otherwise healthy young adolescents. One rare genetic condition associated with both phenotypic outcomes is the 22q11.2 deletion (22q11DS). This microdeletion, encompassing 47 genes, occurs in approximately 1 in 2,148 live births and confers a 20-fold higher risk for both AIS and schizophrenia compared to the general population. In the general population (non-22q11DS carriers), AIS and SCZ have also been reported to be related and genetic studies suggest the involvement of genetic variants implicated in the central nervous functioning. In this study, our objective was to further investigate genetic overlaps between these conditions in the general population. Specifically, we aimed to explore the role of genes within the 22q11.2 region, not only in terms of common variants but also their potential impact on gene networks and biopathways.
Methods: We used summary statistics from three genome-wide association studies (GWAS): two focused on AIS (n = 11,210), and one on schizophrenia (n = 36,989). To explore potential overlaps between the two conditions, we conducted a comparative analysis on the significance-based ranked single nucleotide polymorphisms (SNPs) that are associated with both AIS and SCZ. Next, we employed in silico analyses to assess gene-networks enrichment for the most significant SNPs and investigate the contribution of genes within the 22q11.2 region. Post-hoc analysis was conducted to explore the biological pathways correlated with SNPs significantly associated with both AIS and SCZ.
Results: The in silico analyses revealed a significant (adjusted-p < 0.05) genetic overlap between SCZ and both AIS cohorts. The top 3% of the most significant SNPs associated with both conditions exhibited a distinct enrichment cluster which is unlikely to be a result of chance (p < 3e-04). The gene-networks analyses showed a significant overlap of 26-41% with the ones involving genes in the 22q11DS region. However, there was no overlap between SNPs in this region and the most significant SNPs identified in the GWAS.
Conclusion: This study revealed compelling evidence that beyond the shared association with 22q11DS as a rare genetic variant, AIS and SCZ exhibit common genetic risk variants and an overlap of important genes. The gene networks enriched by the most significant SNPs for both conditions also intersect with the ones involving genes in the 22q11DS region. However, SNPs within this region were not overrepresented among the most significant SNPs from GWAS for both conditions. Notably, gene networks linked to the risk for both conditions suggest an involvement of biopathways related to cellular signaling and neuronal development.
{"title":"Genetic overlap between idiopathic scoliosis and schizophrenia in the general population.","authors":"Steven de Reuver, Worrawat Engchuan, Nickie Safarian, Mehdi Zarrei, Jacob A S Vorstman, René M Castelein, Elemi J Breetvelt","doi":"10.1007/s43390-024-00979-9","DOIUrl":"https://doi.org/10.1007/s43390-024-00979-9","url":null,"abstract":"<p><strong>Introduction: </strong>Adolescent idiopathic scoliosis (AIS) and schizophrenia (SCZ) are two distinct conditions with poorly understood aetiologies that both emerge in otherwise healthy young adolescents. One rare genetic condition associated with both phenotypic outcomes is the 22q11.2 deletion (22q11DS). This microdeletion, encompassing 47 genes, occurs in approximately 1 in 2,148 live births and confers a 20-fold higher risk for both AIS and schizophrenia compared to the general population. In the general population (non-22q11DS carriers), AIS and SCZ have also been reported to be related and genetic studies suggest the involvement of genetic variants implicated in the central nervous functioning. In this study, our objective was to further investigate genetic overlaps between these conditions in the general population. Specifically, we aimed to explore the role of genes within the 22q11.2 region, not only in terms of common variants but also their potential impact on gene networks and biopathways.</p><p><strong>Methods: </strong>We used summary statistics from three genome-wide association studies (GWAS): two focused on AIS (n = 11,210), and one on schizophrenia (n = 36,989). To explore potential overlaps between the two conditions, we conducted a comparative analysis on the significance-based ranked single nucleotide polymorphisms (SNPs) that are associated with both AIS and SCZ. Next, we employed in silico analyses to assess gene-networks enrichment for the most significant SNPs and investigate the contribution of genes within the 22q11.2 region. Post-hoc analysis was conducted to explore the biological pathways correlated with SNPs significantly associated with both AIS and SCZ.</p><p><strong>Results: </strong>The in silico analyses revealed a significant (adjusted-p < 0.05) genetic overlap between SCZ and both AIS cohorts. The top 3% of the most significant SNPs associated with both conditions exhibited a distinct enrichment cluster which is unlikely to be a result of chance (p < 3e-04). The gene-networks analyses showed a significant overlap of 26-41% with the ones involving genes in the 22q11DS region. However, there was no overlap between SNPs in this region and the most significant SNPs identified in the GWAS.</p><p><strong>Conclusion: </strong>This study revealed compelling evidence that beyond the shared association with 22q11DS as a rare genetic variant, AIS and SCZ exhibit common genetic risk variants and an overlap of important genes. The gene networks enriched by the most significant SNPs for both conditions also intersect with the ones involving genes in the 22q11DS region. However, SNPs within this region were not overrepresented among the most significant SNPs from GWAS for both conditions. Notably, gene networks linked to the risk for both conditions suggest an involvement of biopathways related to cellular signaling and neuronal development.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142474264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: Adult spinal deformity (ASD) has a significant impact on trunk balance and quality of life in the elderly. Postoperative rod fractures pose significant challenges, but the mechanisms of their occurrence are underexplored compared to other complications such as proximal junctional kyphosis. This study investigated factors associated with rod fracture in patients with ASD.
Methods: A retrospective single-center study analyzed 110 adult patients who underwent spinal deformity correction between 2012 and 2020. Comparative analysis and univariate and multivariate Cox regression analyses were employed to identify factors associated with rod fracture.
Results: In this study, rod fracture occurred in 14.5% of patients. The rod fracture group exhibited a larger change in lumbar lordosis (LL), a higher proportion of patients with pre-operatively existing (pre-existing) vertebral fractures, and a greater percentage of patients with a rod diameter of 6 mm or less compared to the non-rod fracture group. Univariate Cox regression analysis revealed that rod fracture was associated with pre-existing vertebral fracture, LL change, preoperative sagittal vertical axis, and preoperative pelvic tilt. Multivariate Cox regression analysis identified pre-existing vertebral fractures and the amount of LL change as independent factors associated with rod fractures.
Conclusion: Pre-existing vertebral fractures and the magnitude of lumbar lordosis correction are independent risk factors for rod fracture following ASD surgery. Surgeons should consider these factors during preoperative planning to reduce the risk of postoperative rod fracture.
{"title":"Factors associated with rod fracture following surgery for adult spinal deformity: a single-center retrospective study.","authors":"Hiroki Konuma, Junya Katayanagi, Takahiro Iida, Shingo Morishita, Tomoyuki Tanaka, Tsukasa Yanase, Tetsuya Jinno, Hiroyuki Inose","doi":"10.1007/s43390-024-00985-x","DOIUrl":"https://doi.org/10.1007/s43390-024-00985-x","url":null,"abstract":"<p><strong>Purpose: </strong>Adult spinal deformity (ASD) has a significant impact on trunk balance and quality of life in the elderly. Postoperative rod fractures pose significant challenges, but the mechanisms of their occurrence are underexplored compared to other complications such as proximal junctional kyphosis. This study investigated factors associated with rod fracture in patients with ASD.</p><p><strong>Methods: </strong>A retrospective single-center study analyzed 110 adult patients who underwent spinal deformity correction between 2012 and 2020. Comparative analysis and univariate and multivariate Cox regression analyses were employed to identify factors associated with rod fracture.</p><p><strong>Results: </strong>In this study, rod fracture occurred in 14.5% of patients. The rod fracture group exhibited a larger change in lumbar lordosis (LL), a higher proportion of patients with pre-operatively existing (pre-existing) vertebral fractures, and a greater percentage of patients with a rod diameter of 6 mm or less compared to the non-rod fracture group. Univariate Cox regression analysis revealed that rod fracture was associated with pre-existing vertebral fracture, LL change, preoperative sagittal vertical axis, and preoperative pelvic tilt. Multivariate Cox regression analysis identified pre-existing vertebral fractures and the amount of LL change as independent factors associated with rod fractures.</p><p><strong>Conclusion: </strong>Pre-existing vertebral fractures and the magnitude of lumbar lordosis correction are independent risk factors for rod fracture following ASD surgery. Surgeons should consider these factors during preoperative planning to reduce the risk of postoperative rod fracture.</p><p><strong>Level of evidence: </strong>IV.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142474253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-09DOI: 10.1007/s43390-024-00977-x
Anusha Patil, Peter Y Joo, Jay Moran, Lancelot Benn, Addisu Mesfin
Purpose: Performing laminectomies in patients with achondroplasia-a common skeletal dysplasia-can present unique challenges. There are a limited number of studies that have reported on the adverse effects of laminectomies in patients with achondroplasia. To compare the 90-day postoperative adverse events following laminectomy in patients with and without achondroplasia.
Methods: Retrospective cohort study using the 2010-2020 PearlDiver Mariner 91 administrative database was used to identify patients who underwent thoracic, thoracolumbar, or lumbar laminectomy. Patients with achondroplasia were matched 1:4 to patients without achondroplasia based on age, sex, insurance, and ECI. Univariate and multivariate logistic regression analyses assessed and compared 90-day adverse events. Odds ratios (OR), 95% confidence intervals (CI), and p-values were reported with significance set at p < 0.05.
Results: A multivariate analysis revealed that when laminectomy was performed, patients with achondroplasia were 2.82 times more likely to have 90-day AE compared to those without achondroplasia (p < 0.001). When comparing individual subtypes of adverse events, patients with achondroplasia were found to have significantly greater odds of a transfusion (OR 6.40, p < 0.001), UTI (OR 3.79, p < 0.001), disruption of wound (OR 3.71, p < 0.001), and hematoma (OR 2.94, p = 0.032). Pneumonia, cardiac arrest, AKI, other perioperative events, durotomy, and VTE were not significantly different between the two cohorts.
Conclusion: This study uses one of the largest cohorts to compare patients with and without achondroplasia undergoing laminectomy. Patients with achondroplasia were found to have a significantly greater risk of 90-day adverse events following laminectomy compared to their matched cohort of patients without achondroplasia.
{"title":"Patients with achondroplasia have increased risk of 90-day adverse events following laminectomy: A matched comparison using a national database.","authors":"Anusha Patil, Peter Y Joo, Jay Moran, Lancelot Benn, Addisu Mesfin","doi":"10.1007/s43390-024-00977-x","DOIUrl":"https://doi.org/10.1007/s43390-024-00977-x","url":null,"abstract":"<p><strong>Purpose: </strong>Performing laminectomies in patients with achondroplasia-a common skeletal dysplasia-can present unique challenges. There are a limited number of studies that have reported on the adverse effects of laminectomies in patients with achondroplasia. To compare the 90-day postoperative adverse events following laminectomy in patients with and without achondroplasia.</p><p><strong>Methods: </strong>Retrospective cohort study using the 2010-2020 PearlDiver Mariner 91 administrative database was used to identify patients who underwent thoracic, thoracolumbar, or lumbar laminectomy. Patients with achondroplasia were matched 1:4 to patients without achondroplasia based on age, sex, insurance, and ECI. Univariate and multivariate logistic regression analyses assessed and compared 90-day adverse events. Odds ratios (OR), 95% confidence intervals (CI), and p-values were reported with significance set at p < 0.05.</p><p><strong>Results: </strong>A multivariate analysis revealed that when laminectomy was performed, patients with achondroplasia were 2.82 times more likely to have 90-day AE compared to those without achondroplasia (p < 0.001). When comparing individual subtypes of adverse events, patients with achondroplasia were found to have significantly greater odds of a transfusion (OR 6.40, p < 0.001), UTI (OR 3.79, p < 0.001), disruption of wound (OR 3.71, p < 0.001), and hematoma (OR 2.94, p = 0.032). Pneumonia, cardiac arrest, AKI, other perioperative events, durotomy, and VTE were not significantly different between the two cohorts.</p><p><strong>Conclusion: </strong>This study uses one of the largest cohorts to compare patients with and without achondroplasia undergoing laminectomy. Patients with achondroplasia were found to have a significantly greater risk of 90-day adverse events following laminectomy compared to their matched cohort of patients without achondroplasia.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-08DOI: 10.1007/s43390-024-00982-0
Julia Todderud, A Noelle Larson, Geoffrey Haft, Ron El-Hawary, Nigel Price, John T Anderson, Ryan Fitzgerald, Gilbert Chan, Baron Lonner, Michael Albert, Daniel Hoernschemeyer, Todd A Milbrandt
Purpose: Two non-fusion devices for adolescent idiopathic scoliosis (AIS) received HDE approval for clinical use in 2019: posterior dynamic distraction device (PDDD) and vertebral body tethering system (VBT). Although indications are similar, there is no comparative study of these devices. We hypothesize that curve correction will be comparable, but PDDD will have better perioperative metrics.
Methods: AIS PDDD patients were prospectively enrolled in this matched multicenter study. Inclusion criteria were Lenke 1 or 5 curves, preoperative curves 35°-60°, correction to ≤30° on bending radiographs, and kyphosis <55°. Patients were matched by age, sex, Risser, curve type and curve magnitude to a single-center cohort of VBT patients. Results were compared at 2 years.
Results: 20 PDDD patients were matched to 20 VBT patients. Blood loss was higher in the VBT cohort (88 vs. 36 ml, p < 0.001). Operative time and postoperative length of stay were longer in the VBT cohort, 177 vs. 115 min (p < 0.001) (2.9 vs. 1.2 days, p < 0.001). Postoperative curve measurement and correction at 6 months were better in the PDDD cohort (15° vs. 24°, p < 0.001; 68% vs. 50%, p < 0.001). At 1-year, PDDD patients had improved Cobb angles (14° vs. 21°, p = 0.001). At 2 years, a correction was improved in the PDDD cohort, with a curve measurement of 17° for PDDD and 22° for VBT (p = 0.043). At the latest follow-up, 3 PDDD patients and 1 VBT patient underwent revision surgery.
Conclusion: Early results show PDDD demonstrates better index correction, reduced operative time, less blood loss, and shorter length of stay but higher rates of revision compared to a matched cohort of VBT patients at two-year follow-up.
Level of evidence: Level II, prospective cohort matched comparative study.
{"title":"Matched comparison of non-fusion surgeries for adolescent idiopathic scoliosis: posterior dynamic distraction device and vertebral body tethering.","authors":"Julia Todderud, A Noelle Larson, Geoffrey Haft, Ron El-Hawary, Nigel Price, John T Anderson, Ryan Fitzgerald, Gilbert Chan, Baron Lonner, Michael Albert, Daniel Hoernschemeyer, Todd A Milbrandt","doi":"10.1007/s43390-024-00982-0","DOIUrl":"https://doi.org/10.1007/s43390-024-00982-0","url":null,"abstract":"<p><strong>Purpose: </strong>Two non-fusion devices for adolescent idiopathic scoliosis (AIS) received HDE approval for clinical use in 2019: posterior dynamic distraction device (PDDD) and vertebral body tethering system (VBT). Although indications are similar, there is no comparative study of these devices. We hypothesize that curve correction will be comparable, but PDDD will have better perioperative metrics.</p><p><strong>Methods: </strong>AIS PDDD patients were prospectively enrolled in this matched multicenter study. Inclusion criteria were Lenke 1 or 5 curves, preoperative curves 35°-60°, correction to ≤30° on bending radiographs, and kyphosis <55°. Patients were matched by age, sex, Risser, curve type and curve magnitude to a single-center cohort of VBT patients. Results were compared at 2 years.</p><p><strong>Results: </strong>20 PDDD patients were matched to 20 VBT patients. Blood loss was higher in the VBT cohort (88 vs. 36 ml, p < 0.001). Operative time and postoperative length of stay were longer in the VBT cohort, 177 vs. 115 min (p < 0.001) (2.9 vs. 1.2 days, p < 0.001). Postoperative curve measurement and correction at 6 months were better in the PDDD cohort (15° vs. 24°, p < 0.001; 68% vs. 50%, p < 0.001). At 1-year, PDDD patients had improved Cobb angles (14° vs. 21°, p = 0.001). At 2 years, a correction was improved in the PDDD cohort, with a curve measurement of 17° for PDDD and 22° for VBT (p = 0.043). At the latest follow-up, 3 PDDD patients and 1 VBT patient underwent revision surgery.</p><p><strong>Conclusion: </strong>Early results show PDDD demonstrates better index correction, reduced operative time, less blood loss, and shorter length of stay but higher rates of revision compared to a matched cohort of VBT patients at two-year follow-up.</p><p><strong>Level of evidence: </strong>Level II, prospective cohort matched comparative study.</p>","PeriodicalId":21796,"journal":{"name":"Spine deformity","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142393090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}