Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 56
Filtrar
Más filtros

Banco de datos
Tipo del documento
Intervalo de año de publicación
1.
J Orthop Sci ; 25(3): 379-383, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-31235197

RESUMEN

BACKGROUND: The impact of a positive sagittal vertical axis (SVA) on the surgical outcome for lumbar spinal stenosis (LSS) remains unclear, because sagittal imbalance in LSS may partly result from the tendency of patients to lean forward to reduce symptoms. Such an abnormality could be normalized by decompression surgery alone without corrective fusion. As this spontaneous correction is not well known, some surgeons perform only neural decompression in patients with positive SVA and decreased lumbar lordosis (LL), unless flatback-related symptoms are present, whereas other surgeons add corrective fusion to restore spinopelvic alignment. We systematically reviewed previous studies on this issue. METHODS: PubMed, Cochrane Library, and Embase were searched for English articles on the relationship between SVA and decompression surgery for LSS. The rates of spontaneous correction in spinopelvic parameters and the impact of SVA on clinical outcomes were analyzed. RESULTS: The rate of spontaneous SVA correction from >40-50 mm to normal values following decompression surgery alone varied from 25% to 73%. Overall, the spinopelvic parameters tended to improve postoperatively, with statistically significant changes in some series. Postoperative residual sagittal imbalance, rather than preoperative imbalance, more consistently showed a negative impact on clinical outcomes, but not on leg symptoms. For predicting postoperative sagittal imbalance, 2 studies identified the cutoff of >20° for preoperative PI-LL mismatch. Another study suggested SVA >80 mm as a useful value for this purpose. CONCLUSION: In LSS treated with decompression surgery alone, postoperative rather than preoperative sagittal imbalance more consistently affects clinical outcomes, particularly low back pain. This is probably because decompression usually partly improves preoperative spinopelvic sagittal malalignment. Thus, LSS, if associated with preoperative PI-LL mismatch <20° and SVA <80 mm, may not require additional corrective fusion procedures.


Asunto(s)
Desviación Ósea/fisiopatología , Descompresión Quirúrgica/métodos , Vértebras Lumbares/fisiopatología , Vértebras Lumbares/cirugía , Estenosis Espinal/fisiopatología , Estenosis Espinal/cirugía , Humanos , Remisión Espontánea
2.
Hum Mol Genet ; 26(20): 4086-4092, 2017 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-29016859

RESUMEN

Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affecting millions of children. Since treatment and prognosis of AIS depend on curve progression, identifying factors related to AIS curve progression is important in its management. Although several genetic loci for AIS occurrence are reported, no locus for curve progression has been identified. To identify genes associated with AIS progression, we conducted a genome-wide association study followed by a replication study using a total of 2,543 AIS subjects who were evaluated for the curve progression. We identified a significantly associated locus on chromosome 11q14.1 (P = 1.98 × 10-9, odds ratio = 1.56). In silico and in vitro analyses identified a functional variant, rs35333564 in MIR4300HG, the host gene of a microRNA, MIR4300. The genomic region containing rs35333564 had enhancer activity, which was decreased in its risk allele. Our data suggest that decrease of MIR4300 is related to AIS progression.


Asunto(s)
MicroARNs/genética , Escoliosis/genética , Adolescente , Alelos , Pueblo Asiatico/genética , Progresión de la Enfermedad , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Japón , Masculino , MicroARNs/metabolismo , Oportunidad Relativa , Polimorfismo de Nucleótido Simple , Factores de Riesgo , Escoliosis/metabolismo
3.
J Hum Genet ; 64(5): 493-498, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30787423

RESUMEN

Adolescent idiopathic scoliosis (AIS) is the most common type of scoliosis. Controlling its curve progression is the most important clinical task. Although recent genome-wide association studies (GWASs) identified several susceptibility loci associated with the development of AIS, the etiology of curve progression has been still unknown. Our previous GWAS has identified that rs12946942 showed significant association with severe AIS. To confirm the association, we conducted an international meta-analysis using four cohorts with different ethnicity. We analyzed 2272 severe AIS cases and 13,859 controls in total, and found the replication of significant association of rs12946942 (combined P = 7.23×10-13; odds ratio = 1.36, 95% confidence interval = 1.25-1.49). In silico analyses suggested that SOX9 is the most likely susceptibility gene for AIS curve progression in the locus.


Asunto(s)
Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Polimorfismo Genético , Factor de Transcripción SOX9/genética , Escoliosis/etnología , Escoliosis/genética , Adolescente , Femenino , Humanos , Masculino
4.
Am J Hum Genet ; 97(2): 337-42, 2015 Aug 06.
Artículo en Inglés | MEDLINE | ID: mdl-26211971

RESUMEN

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity. We previously conducted a genome-wide association study (GWAS) and detected two loci associated with AIS. To identify additional loci, we extended our GWAS by increasing the number of cohorts (2,109 affected subjects and 11,140 control subjects in total) and conducting a whole-genome imputation. Through the extended GWAS and replication studies using independent Japanese and Chinese populations, we identified a susceptibility locus on chromosome 9p22.2 (p = 2.46 × 10(-13); odds ratio = 1.21). The most significantly associated SNPs were in intron 3 of BNC2, which encodes a zinc finger transcription factor, basonuclin-2. Expression quantitative trait loci data suggested that the associated SNPs have the potential to regulate the BNC2 transcriptional activity and that the susceptibility alleles increase BNC2 expression. We identified a functional SNP, rs10738445 in BNC2, whose susceptibility allele showed both higher binding to a transcription factor, YY1 (yin and yang 1), and higher BNC2 enhancer activity than the non-susceptibility allele. BNC2 overexpression produced body curvature in developing zebrafish in a gene-dosage-dependent manner. Our results suggest that increased BNC2 expression is implicated in the etiology of AIS.


Asunto(s)
Cromosomas Humanos Par 9/genética , Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Escoliosis/genética , Adolescente , Animales , China , Proteínas de Unión al ADN/metabolismo , Embrión no Mamífero/metabolismo , Embrión no Mamífero/patología , Estudio de Asociación del Genoma Completo , Humanos , Japón , Luciferasas , Oportunidad Relativa , Escoliosis/patología , Factor de Transcripción YY1/metabolismo , Pez Cebra
5.
J Orthop Sci ; 23(3): 455-458, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29459084

RESUMEN

BACKGROUND: Spinal extradural arachnoid cyst (SEDAC) is a cystic lesion that protrudes into the epidural space from a small dural defect. Early diagnosis of SEDAC is important because its expansion causes neurological damage. Two types of SEDAC, syndromic and sporadic, are present. Syndromic SEDAC is inherited as a part of lymphedema-distichiasis syndrome caused by mutations in the FOXC2 gene; however, it is often mistaken as sporadic because of low penetrance. It is not reasonable to conduct a genetic testing for all SEDAC patients and their family members. The aim of this study is to establish an effective screening method to distinguish syndromic SEDAC from sporadic SEDAC. METHODS: We performed a retrospective review of medical records and imaging studies of 29 subjects who were diagnosed with SEDAC. Clinical features, family history and magnetic resonance imaging (MRI) were analyzed. Mutations in FOXC2 were examined by Sanger-sequencing of the entire coding region of the genes. SEDAC having a mutation in FOXC2 gene was defined with syndromic SEDAC. RESULTS: Eleven subjects had a heterozygous mutation in FOXC2. They were all familial and hence syndromic SEDAC. Only one proband had known family history of SEDAC at diagnosis. MRI findings and physical examinations, especially eye and leg examinations, were quite useful to screen syndromic SEDAC. Physical examination often showed accompanying lymphedema and distichiasis in syndromic SEDAC. Syndromic SEDAC tended to have multiple cysts out of the thoracolumbar area. CONCLUSIONS: We established an effective screening method based on physical examinations and MRI findings.


Asunto(s)
Quistes Aracnoideos/diagnóstico , Quistes Aracnoideos/genética , Pestañas/anomalías , Factores de Transcripción Forkhead/genética , Linfedema/complicaciones , Mutación/genética , Adolescente , Adulto , Anciano , Niño , Diagnóstico Diferencial , Espacio Epidural , Humanos , Vértebras Lumbares , Linfedema/diagnóstico , Linfedema/genética , Imagen por Resonancia Magnética , Persona de Mediana Edad , Examen Físico , Estudios Retrospectivos , Síndrome , Vértebras Torácicas
6.
Hum Mutat ; 38(3): 317-323, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-28054739

RESUMEN

Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5-1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients, investigated the TBX6 locus for both mutations and the risk haplotype, examined transcriptional activities of mutant TBX6 in vitro, and evaluated clinical and radiographic features. We identified TBX6 null mutations in nine patients, including a missense mutation that had a loss of function in vitro. All had the risk haplotype in the opposite allele. One of the mutations showed dominant negative effect. Although all Chinese patients had one or more hemivertebrae, two Japanese patients did not have hemivertebra. The compound heterozygosity of null mutations and the common risk haplotype in TBX6 also causes CS in Japanese patients with similar incidence. Hemivertebra was not a specific type of spinal malformation in TBX6-associated CS (TACS). A heterozygous TBX6 loss-of-function mutation has been reported in a family with autosomal-dominant spondylocostal dysostosis, but it may represent a spectrum of the same disease with TACS.


Asunto(s)
Anomalías Congénitas/genética , Haplotipos , Heterocigoto , Mutación con Pérdida de Función , Escoliosis/genética , Proteínas de Dominio T Box/genética , Adolescente , Niño , Preescolar , Deleción Cromosómica , Cromosomas Humanos Par 16 , Anomalías Congénitas/diagnóstico , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Linaje , Fenotipo , Radiografía , Escoliosis/diagnóstico
7.
Clin Calcium ; 26(4): 553-60, 2016 Apr.
Artículo en Japonés | MEDLINE | ID: mdl-27013625

RESUMEN

Adolescent idiopathic scoliosis(AIS)is a polygenic disease. Genome-wide association studies(GWASs)have been performed for a lot of polygenic diseases. For AIS, we conducted GWAS and identified the first AIS locus near LBX1. After the discovery, we have extended our study by increasing the numbers of subjects and SNPs. In total, our Japanese GWAS has identified four susceptibility genes. GWASs for AIS have also been performed in the USA and China, which identified one and three susceptibility genes, respectively. Here we review GWASs in Japan and abroad and functional analysis to clarify the pathomechanism of AIS.


Asunto(s)
Escoliosis/genética , Adolescente , Animales , Cromosomas Humanos Par 9 , Predisposición Genética a la Enfermedad , Genoma Humano , Estudio de Asociación del Genoma Completo , Humanos , Polimorfismo de Nucleótido Simple , Escoliosis/epidemiología
8.
J Med Genet ; 51(6): 401-6, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24721834

RESUMEN

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a common rotational deformity of the spine that presents in children worldwide, yet its etiology is poorly understood. Recent genome-wide association studies (GWAS) have identified a few candidate risk loci. One locus near the chromosome 10q24.31 LBX1 gene (OMIM #604255) was originally identified by a GWAS of Japanese subjects and replicated in additional Asian populations. To extend this result, and to create larger AIS cohorts for the purpose of large-scale meta-analyses in multiple ethnicities, we formed a collaborative group called the International Consortium for Scoliosis Genetics (ICSG). METHODS: Here, we report the first ICSG study, a meta-analysis of the LBX1 locus in six Asian and three non-Asian cohorts. RESULTS: We find significant evidence for association of this locus with AIS susceptibility in all nine cohorts. Results for seven cohorts containing both genders yielded P=1.22×10-43 for rs11190870, and P=2.94×10-48 for females in all nine cohorts. Comparing the regional haplotype structures for three populations, we refined the boundaries of association to a ∼25 kb block encompassing the LBX1 gene. The LBX1 protein, a homeobox transcription factor that is orthologous to the Drosophila ladybird late gene, is involved in proper migration of muscle precursor cells, specification of cardiac neural crest cells, and neuronal determination in developing neural tubes. CONCLUSIONS: Our results firmly establish the LBX1 region as the first major susceptibility locus for AIS in Asian and non-Hispanic white groups, and provide a platform for larger studies in additional ancestral groups.


Asunto(s)
Pueblo Asiatico/genética , Proteínas de Homeodominio/genética , Escoliosis/genética , Factores de Transcripción/genética , Adolescente , Femenino , Estudio de Asociación del Genoma Completo , Humanos , Desequilibrio de Ligamiento , Masculino , Polimorfismo de Nucleótido Simple
9.
Spine Deform ; 12(4): 1025-1031, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38556582

RESUMEN

PURPOSE: Post-operative coronal decompensation (CD) continues to be a challenge in the treatment of adolescent idiopathic scoliosis (AIS). CD following selective spinal fusion has been studied. However, there is currently little information regarding CD following Vertebral Body Tethering (VBT). Thus, the goal of this study is to better understand the incidence and risk factors for CD after VBT. METHODS: Retrospective review of a prospective multicenter database was used for analysis. Inclusion criteria were patients undergoing thoracic VBT, a minimum 2-year follow-up, LIV was L1 or above, skeletally immature (Risser ≤ 1), and available preoperative and final follow-up AP and lateral upright radiographs. Radiographic parameters including major and minor Cobb angles, curve type, LIV tilt/translation, L4 tilt, and coronal balance were measured. CD was defined as the distance between C7PL and CSVL > 2 cm. Multiple logistic regression model was used to identify significant predictors of CD. RESULTS: Out of 136 patients undergoing VBT, 94 patients (86 female and 6 male) met the inclusion criteria. The mean age at surgery was 12.1 (9-16) and mean follow-up period was 3.4 years (2-5 years). Major and minor curves, AVR, coronal balance, LIV translation, LIV tilt, L4 tilt were significantly improved after surgery. CD occurred in 11% at final follow-up. Lenke 1A-R (24%) and 1C (26%) had greater incidence of CD compared to 1A-L (4%), 2 (0%), and 3 (0%). LIV selection was not associated with CD. Multivariate logistic regression analysis yielded 1A-R and 1C curves as a predictor of CD with the odds ratio being 17.0. CONCLUSION: CD occurred in 11% of our thoracic VBT patients. Lenke 1A-R and 1C curve types were predictors for CD in patients treated with VBT. There were no other preoperative predictors associated with CD.


Asunto(s)
Escoliosis , Fusión Vertebral , Vértebras Torácicas , Humanos , Escoliosis/cirugía , Escoliosis/diagnóstico por imagen , Femenino , Masculino , Adolescente , Vértebras Torácicas/diagnóstico por imagen , Vértebras Torácicas/cirugía , Estudios Retrospectivos , Niño , Fusión Vertebral/efectos adversos , Fusión Vertebral/métodos , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Factores de Riesgo , Cuerpo Vertebral/diagnóstico por imagen , Estudios de Seguimiento , Radiografía
10.
Spine Surg Relat Res ; 8(3): 315-321, 2024 May 27.
Artículo en Inglés | MEDLINE | ID: mdl-38868786

RESUMEN

Introduction: Precise prediction of hospital stay duration is essential for maximizing resource utilization during surgery. Existing lumbar spinal stenosis (LSS) surgery prediction models lack accuracy and generalizability. Machine learning can improve accuracy by considering preoperative factors. This study aimed to develop and validate a machine learning-based model for estimating hospital stay duration following decompression surgery for LSS. Methods: Data from 848 patients who underwent decompression surgery for LSS at three hospitals were examined. Twelve prediction models, using 79 preoperative variables, were developed for postoperative hospital stay estimation. The top five models were chosen. Fourteen models predicted prolonged hospital stay (≥14 days), and the most accurate model was chosen. Models were validated using a randomly divided training sample (70%) and testing cohort (30%). Results: The top five models showed moderate linear correlations (0.576-0.624) between predicted and measured values in the testing sample. The ensemble of these models had moderate prediction accuracy for final length of stay (linear correlation 0.626, absolute mean error 2.26 days, standard deviation 3.45 days). The c5.0 decision tree model was the top predictor for prolonged hospital stay, with accuracies of 89.63% (training) and 87.2% (testing). Key predictors for longer stay included JOABPEQ social life domain, facility, history of vertebral fracture, diagnosis, and Visual Analogue Scale (VAS) of low back pain. Conclusions: A machine learning-based model was developed to predict postoperative hospital stay after LSS decompression surgery, using data from multiple hospital settings. Numerical prediction of length of stay was not very accurate, although favorable prediction of prolonged stay was accomplished using preoperative factors. The JOABPEQ social life domain score was the most important predictor.

11.
BMC Musculoskelet Disord ; 14: 132, 2013 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-23577922

RESUMEN

BACKGROUND: Although posterior correction and fusion surgery using pedicle screws carries the risk of vascular injury, a massive postoperative hemothorax in a patient with adolescent idiopathic scoliosis (AIS) is quite rare. We here report a case of a 12-year-old girl with AIS who developed a massive postoperative hemothorax. CASE PRESENTATION: The patient had a double thoracic curve with Cobb angles of 63° at T2-7 and 54° at T7-12. Posterior correction and fusion surgery was performed using a segmental pedicle screw construct placed between T2 and T12. Although the patient's respiration was stable during the surgery, 20 minutes after removing the trachea tube, the patient's pulse oximetry oxygen saturation suddenly decreased to 80%. A contrast CT scan showed a massive left hemothorax, and a drainage tube was quickly inserted into the chest. The patient was re-intubated and a positive end-expiratory pressure of 5 cmH(2)O applied, which successfully stopped the bleeding. The patient was extubated 4 days after surgery without incident. Based on contrast CT scans, it was suspected that the hemothorax was caused by damage to the intercostal arteries or branches during pedicle probing on the concave side of the upper thoracic curve. Extensive post-surgical blood tests, echograms, and CT and MRI radiographs did not detect coagulopathy, pulmonary or vascular malformation, or any other possible causative factors. CONCLUSION: This case underscores the potential risk of massive hemothorax related to thoracic pedicle screw placement, and illustrates that for this serious complication, respiratory management with positive airway pressure, along with a chest drainage tube, can be an effective treatment option.


Asunto(s)
Hemotórax/diagnóstico por imagen , Insuficiencia Respiratoria/diagnóstico por imagen , Escoliosis/diagnóstico por imagen , Escoliosis/cirugía , Fusión Vertebral/efectos adversos , Enfermedad Aguda , Niño , Femenino , Hemotórax/etiología , Humanos , Radiografía , Insuficiencia Respiratoria/etiología , Resultado del Tratamiento
12.
J Spinal Disord Tech ; 26(2): 93-7, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22037166

RESUMEN

STUDY DESIGN: A retrospective case-control study OBJECTIVE: Short fusion using pedicle screws (PSs) with an attempt to attain maximum correction of the main thoracic curve was conducted for patients with a Lenke type 1 curve, to prevent postoperative left shoulder elevation. The outcomes were compared with those of conventional surgery. SUMMARY OF BACKGROUND DATA: Excessive correction of the main thoracic curve by PSs causes problematic left shoulder elevation even in a Lenke type 1 curve. METHODS: Thirty-eight patients (3 male, 35 female, mean age 16.2 years, mean follow-up 24 mo) with Lenke type 1 curve underwent posterior corrective surgery using PSs. The upper instrumented vertebra was 1 level below the end vertebra in 14 patients (short, S group), and it was at the end vertebra in 24 patients (conventional, C group). There was no difference in the preoperative Cobb angle (51.8 vs. 58.0) or curve flexibility (49.7 vs. 46.1) between the 2 groups. Radiographic results, perioperative data, and scoliosis research society 22 scores were compared between the 2 groups. RESULTS: The postoperative Cobb angle of the main curve after surgery was 13.2±5.7 degrees in the S group and 10.6±7.3 degrees in the C group (not significant). The clavicle angle was -2.1±2.8 degrees versus -2.7±2.6 degrees before surgery (not significant), and 0.8±2.3 versus 3.8±2.4 after surgery (P<0.05). The number of fused vertebrae, mean surgical time, and estimated blood loss were significantly lower in the S group than in the C group. The scoliosis research society 22 score at follow-up was not different between the 2 groups. CONCLUSIONS: The short fusion strategy for a Lenke type 1 curve can produce equivalent correction of the main curve and clinical outcomes to conventional fusion strategy with less surgical time and blood loss, while maintaining better shoulder balance.


Asunto(s)
Tornillos Óseos/estadística & datos numéricos , Fijadores Internos/estadística & datos numéricos , Escoliosis/cirugía , Fusión Vertebral/métodos , Vértebras Torácicas/cirugía , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Estudios Prospectivos , Radiografía , Estudios Retrospectivos , Escoliosis/diagnóstico por imagen , Fusión Vertebral/instrumentación , Vértebras Torácicas/diagnóstico por imagen , Adulto Joven
13.
Front Endocrinol (Lausanne) ; 14: 1089414, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37415668

RESUMEN

Introduction: Adolescent idiopathic scoliosis (AIS) is a disorder with a three-dimensional spinal deformity and is a common disease affecting 1-5% of adolescents. AIS is also known as a complex disease involved in environmental and genetic factors. A relation between AIS and body mass index (BMI) has been epidemiologically and genetically suggested. However, the causal relationship between AIS and BMI remains to be elucidated. Material and methods: Mendelian randomization (MR) analysis was performed using summary statistics from genome-wide association studies (GWASs) of AIS (Japanese cohort, 5,327 cases, 73,884 controls; US cohort: 1,468 cases, 20,158 controls) and BMI (Biobank Japan: 173430 individual; meta-analysis of genetic investigation of anthropometric traits and UK Biobank: 806334 individuals; European Children cohort: 39620 individuals; Population Architecture using Genomics and Epidemiology: 49335 individuals). In MR analyses evaluating the effect of BMI on AIS, the association between BMI and AIS summary statistics was evaluated using the inverse-variance weighted (IVW) method, weighted median method, and Egger regression (MR-Egger) methods in Japanese. Results: Significant causality of genetically decreased BMI on risk of AIS was estimated: IVW method (Estimate (beta) [SE] = -0.56 [0.16], p = 1.8 × 10-3), weighted median method (beta = -0.56 [0.18], p = 8.5 × 10-3) and MR-Egger method (beta = -1.50 [0.43], p = 4.7 × 10-3), respectively. Consistent results were also observed when using the US AIS summary statistic in three MR methods; however, no significant causality was observed when evaluating the effect of AIS on BMI. Conclusions: Our Mendelian randomization analysis using large studies of AIS and GWAS for BMI summary statistics revealed that genetic variants contributing to low BMI have a causal effect on the onset of AIS. This result was consistent with those of epidemiological studies and would contribute to the early detection of AIS.


Asunto(s)
Estudio de Asociación del Genoma Completo , Escoliosis , Adolescente , Humanos , Índice de Masa Corporal , Análisis de la Aleatorización Mendeliana , Polimorfismo de Nucleótido Simple , Escoliosis/epidemiología , Escoliosis/genética
14.
J Bone Miner Res ; 38(1): 144-153, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36342191

RESUMEN

Adolescent idiopathic scoliosis (AIS) is a serious health problem affecting 3% of live births all over the world. Many loci associated with AIS have been identified by previous genome wide association studies, but their biological implication remains mostly unclear. In this study, we evaluated the AIS-associated variants in the 7p22.3 locus by combining in silico, in vitro, and in vivo analyses. rs78148157 was located in an enhancer of UNCX, a homeobox gene and its risk allele upregulated the UNCX expression. A transcription factor, early growth response 1 (EGR1), transactivated the rs78148157-located enhancer and showed a higher binding affinity for the risk allele of rs78148157. Furthermore, zebrafish larvae with UNCX messenger RNA (mRNA) injection developed body curvature and defective neurogenesis in a dose-dependent manner. rs78148157 confers the genetic susceptibility to AIS by enhancing the EGR1-regulated UNCX expression. © 2022 American Society for Bone and Mineral Research (ASBMR).


Asunto(s)
Estudio de Asociación del Genoma Completo , Escoliosis , Animales , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Escoliosis/genética , Factores de Transcripción/genética , Pez Cebra/genética
15.
Global Spine J ; 12(3): 483-492, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33557618

RESUMEN

STUDY DESIGN: Meta-analysis. OBJECTIVE: To compare outcomes between minimally invasive scoliosis surgery (MISS) and traditional posterior instrumentation and fusion in the correction of adolescent idiopathic scoliosis (AIS). METHODS: A literature search was performed using MEDLINE, PubMed, EMBASE, Google scholar and Cochrane databases, including studies reporting outcomes for both MISS and open correction of AIS. Study details, demographics, and outcomes, including curve correction, estimated blood loss (EBL), operative time, postoperative pain, length of stay (LOS), and complications, were collected and analyzed. RESULTS: A total of 4 studies met the selection criteria and were included in the analysis, totaling 107 patients (42 MIS and 65 open) with a mean age of 16 years. Overall there was no difference in curve correction between MISS (73.2%) and open (76.7%) cohorts. EBL was significantly lower in the MISS (271 ml) compared to the open (527 ml) group, but operative time was significantly longer (380 min for MISS versus 302 min for open). There were no significant differences between the approaches in pain, LOS, complications, or reoperations. CONCLUSION: MISS was associated with less blood loss but longer operative times compared to traditional open fusion for AIS. There was no difference in curve correction, postoperative pain, LOS, or complications/reoperations. While MISS has emerged as a feasible option for the surgical management of AIS, further research is warranted to compare these 2 approaches.

16.
Spine J ; 22(11): 1768-1777, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35760319

RESUMEN

BACKGROUND CONTEXT: Although the results of decompression surgery for lumbar spinal canal stenosis (LSS) are favorable, it is still difficult to predict the postoperative health-related quality of life of patients before surgery. PURPOSE: The purpose of this study was to develop and validate a machine learning model to predict the postoperative outcome of decompression surgery for patients with LSS. STUDY DESIGN/SETTING: A multicentered retrospective study. PATIENT SAMPLE: A total of 848 patients who underwent decompression surgery for LSS at an academic hospital, tertiary center, and private hospital were included (age 71±9 years, 68% male, 91% LSS, level treated 1.8±0.8, operation time 69±37 minutes, blood loss 48±113 mL, and length of hospital stay 12±5 days). OUTCOME MEASURES: Baseline and 2 years postoperative health-related quality of life. METHODS: The subjects were randomly assigned in a 7:3 ratio to a model building cohort and a testing cohort to test the models' accuracy. Twelve predictive algorithms using 68 preoperative factors were used to predict each domain of the Japanese Orthopedic Association Back Pain Evaluation Questionnaire and visual analog scale scores at 2 years postoperatively. The final predictive values were generated using an ensemble of the top five algorithms in prediction accuracy. RESULTS: The correlation coefficients of the top algorithms for each domain established using the preoperative factors were excellent (correlation coefficient: 0.95-0.97 [relative error: 0.06-0.14]). The performance evaluation of each Japanese Orthopedic Association Back Pain Evaluation Questionnaire domain and visual analog scale score by the ensemble of the top five algorithms in the testing cohort was favorable (mean absolute error [MAE] 8.9-17.4, median difference [MD] 8.1-15.6/100 points), with the highest accuracy for mental status (MAE 8.9, MD 8.1) and the lowest for buttock and leg numbness (MAE 1.7, MD 1.6/10 points). A strong linear correlation was observed between the predicted and measured values (linear correlation 0.82-0.89), while 4% to 6% of the subjects had predicted values of greater than±3 standard deviations of the MAE. CONCLUSIONS: We successfully developed a machine learning model to predict the postoperative outcomes of decompression surgery for patients with LSS using patient data from three different institutions in three different settings. Thorough analyses for the subjects with deviations from the actual measured values may further improve the predictive probability of this model.


Asunto(s)
Descompresión Quirúrgica , Estenosis Espinal , Humanos , Masculino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Femenino , Descompresión Quirúrgica/efectos adversos , Descompresión Quirúrgica/métodos , Estudios Retrospectivos , Calidad de Vida , Constricción Patológica/cirugía , Vértebras Lumbares/cirugía , Resultado del Tratamiento , Estenosis Espinal/cirugía , Dolor de Espalda/cirugía , Aprendizaje Automático , Canal Medular
17.
J Spine Surg ; 7(3): 422-433, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34734146

RESUMEN

OBJECTIVE: To provide state of the art review regarding cervical kyphosis. BACKGROUND: Cervical spine kyphosis has been increasingly common due to the growing elderly population. Clinicians should comprehensively understand its symptoms, biomechanics, etiology, radiographic evaluation, classification, and treatment options and complications of each treatment. Comprehensive review will help clinicians improve the management for patients with cervical kyphosis. METHODS: The available literature relevant to cervical kyphosis was reviewed. PubMed, Medline, OVID, EMBASE, and Cochrane were used to review the literature. CONCLUSIONS: This article summarizes current concepts regarding etiology, evaluation, surgical treatment, complications and outcomes of cervical kyphosis. Major etiologies of cervical kyphosis include degenerative, post-laminectomy, and ankylosing spondylitis. Clinical presentations include neck pain, myelopathy, radiculopathy, and problems with horizontal gaze, swallowing and breathing. Cervical lordosis, C2-7 sagittal vertical axis, chin-brow to vertical angle, and T1 slope should be evaluated from upright lateral 36-inch film. The most widely used classification system includes a deformity descriptor and 5 modifiers. A deformity descriptor provides a basic grouping of the deformity consisting of five types, cervical, cervicothoracic, thoracic, coronal cervical deformity, and cranio-vertebral junction deformity. The 5 modifiers include C2-7 sagittal vertical axis, chin-brow to vertical angle, T1 slope minus cervical lordosis, myelopathy based on modified Japanese Orthopaedic Association score, and SRS-Schwab classification for thoracolumbar deformity. Current treatment options include anterior discectomy and fusion, anterior osteotomy, Smith-Peterson osteotomy, pedicle subtraction osteotomy, or a combination of these based on careful preoperative evaluation.

18.
Global Spine J ; 11(7): 1019-1024, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32677526

RESUMEN

STUDY DESIGN: Longitudinal cohort. OBJECTIVES: Posterior spinal fusion (PSF) using all-pedicle screw constructs has become the standard procedure in the treatment of adolescent idiopathic scoliosis (AIS). However, there have been several reports that all-pedicle screw constructs or the use of pedicle screws at the upper instrumented vertebrae (UIV) increases the incidence of proximal junctional kyphosis (PJK). We aimed to evaluate the impact of instrumentation type on the incidence of PJK following PSF for AIS. METHODS: We performed a stratified random sampling from 3654 patients enrolled in a multicenter database of surgically treated AIS to obtain a representative sample from all Lenke types. Patients were then allocated into 3 groups based on the instrumentation type: all-pedicle screw (PS), hook at UIV with pedicle screws distally (HT), and hybrid constructs (HB). We measured proximal junctional angle (PJA) and defined PJK as PJA ≥ 10° and PJA progression of >10° at the final follow-up. RESULTS: Fifteen (4.3%) of 345 cases had PJK. PJK was significantly more common in PS (11%) compared with HB (1%) and HT (0%) (P < .001). PJK patients were similar to non-PJK patients regarding age, sex, curve type, UIV, and preoperative coronal Cobb angle. Thoracic kyphosis was significantly higher in the PJK group before surgery. Patients who developed PJK had a statistically significantly larger negative sagittal balance compared with the non-PJK group. CONCLUSION: The incidence of PJK was 4.3% and was more common in all-pedicle screw constructs. Using hooks at UIV might be a treatment strategy to limit PJK.

19.
Global Spine J ; 11(2): 212-218, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32875871

RESUMEN

STUDY DESIGN: Retrospective observational study. OBJECTIVES: There is no consensus to predict improvement of lower back pain (LBP) in lumbar spinal stenosis after decompression surgery. The aim of this study was to evaluate the improvement of LBP and analyze the preoperative predicting factors for residual LBP. METHODS: We retrospectively reviewed 119 patients who underwent lumbar decompression surgery without fusion and had a minimum follow-up of 1 year. LBP was evaluated using the numerical rating scale (NRS), Japanese Orthopaedic Association Back Pain Evaluation Questionnaire (JOABPEQ) LBP score, and Roland-Morris Disability Questionnaire (RMDQ). All patients were divided into LBP improved group (group I) and LBP residual group (group R) according to the NRS score. Radiographic images were examined preoperatively and at the final follow-up. We evaluated spinopelvic radiological parameters and analyzed the differences between group I and group R. RESULTS: LBP was significantly improved after decompression surgery (LBP NRS, 5.7 vs 2.6, P < .001; JOABPEQ LBP score, 41.3 vs 79.6, P < .001; RMDQ, 10.3 vs 3.6, P < .001). Of 119 patients, 94 patients were allocated to group I and 25 was allocated to group R. There was significant difference in preoperative thoracolumbar kyphosis between group I and group R. CONCLUSIONS: Most cases of LBP in lumbar spinal stenosis were improved after decompression surgery without fusion. Preoperative thoracolumbar kyphosis predicted residual LBP after decompression surgery.

20.
J Clin Neurosci ; 93: 112-115, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34656233

RESUMEN

Decompression surgery is the most common surgical treatment for lumbar spinal stenosis (LSS). Relatively low satisfaction rate was reported. Patients often complaint of residual numbness despite significant pain relief. We hypothesized that numbness had a significant impact on patient satisfaction, but had not been evaluated, which is associated with low satisfaction rate. This study aimed to examine how much numbness is associated with patient satisfaction. We retrospectively reviewed prospectively collected data from consecutive patients who underwent decompression without fusion for LSS. We evaluated the Numeric Rating Scale (NRS) scores of low back pain (LBP), leg pain, and leg numbness preoperatively and at the final follow-up visit. Improvement was evaluated using minimum clinically important differences (MCIDs). Patient satisfaction was evaluated using the question, "How satisfied are you with the overall result of your back operation?". There are four possible answers consisting of "very satisfied (4-point)", "somewhat satisfied (3-point)", "somewhat dissatisfied (2-point)", or "very dissatisfied (1-point)". Spearman correlation was used to evaluate the association between patient satisfaction and reaching MCIDs. A total of 116 patients were included. All three components had correlation with patient satisfaction with the correlation efficient of 0.30 in LBP, 0.22 in leg pain, and 0.33 in numbness. Numbness had greatest correlation efficient value. We showed that numbness has a greater impact than leg/back pain on patient satisfaction in patients undergoing decompression for LSS. We suggest not only LBP and leg pain but also numbness should be evaluated pre- and postoperatively.


Asunto(s)
Dolor de la Región Lumbar , Estenosis Espinal , Descompresión Quirúrgica , Humanos , Hipoestesia/etiología , Pierna , Dolor de la Región Lumbar/cirugía , Vértebras Lumbares/cirugía , Satisfacción del Paciente , Estudios Retrospectivos , Estenosis Espinal/complicaciones , Estenosis Espinal/cirugía , Resultado del Tratamiento
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA