Sensitivity of MRI parameters within intervertebral discs to the severity of adolescent idiopathic scoliosis

2016 ◽  
Vol 44 (5) ◽  
pp. 1123-1131 ◽  
Author(s):  
Maxime Huber ◽  
Guillaume Gilbert ◽  
Julien Roy ◽  
Stefan Parent ◽  
Hubert Labelle ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Intervertebral Discs

scholarly journals Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome

2020 ◽  
Author(s):  
Nadja Makki ◽  
Jingjing Zhao ◽  
Zhaoyang Liu ◽  
Walter L. Eckalbar ◽  
Aki Ushiki ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Connective Tissue ◽  
Idiopathic Scoliosis ◽  
Association Studies ◽  
Regulatory Elements ◽  
Intervertebral Discs ◽  
Genome Wide Association Studies ◽  
Specific Expression ◽  
Enhancer Activity ◽  
Genome Wide

AbstractAdolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is the most common pediatric musculoskeletal disorder, affecting ∼3% of the population worldwide. However, its genetic bases and tissues of origin remain largely unknown. Several genome-wide association studies (GWAS) have implicated nucleotide variants in noncoding sequences that control genes with important roles in cartilage, muscle, bone, connective tissue and intervertebral discs (IVDs) as drivers of AIS susceptibility. Here, we set out to define the expression of AIS-associated genes and active regulatory elements by performing RNA-seq and ChIP-seq against H3K27ac in these tissues in mouse and human. Our study highlights genetic pathways involving AIS-associated loci that regulate chondrogenesis, IVD development and connective tissue maintenance and homeostasis. In addition, we identify thousands of putative AIS-associated regulatory elements which may orchestrate tissue-specific expression in musculoskeletal tissues of the spine. Quantification of enhancer activity of several candidate regulatory elements from our study identifies three functional enhancers carrying AIS-associated GWAS SNPs at the ADGRG6 and BNC2 loci. Our findings provide a novel genome-wide catalog of AIS-relevant genes and regulatory elements and aid in the identification of novel targets for AIS causality and treatment.

scholarly journals Evaluation of the Degenerative Changes of the Distal Intervertebral Discs after Internal Fixation Surgery in Adolescent Idiopathic Scoliosis

2018 ◽  
Vol 12 (6) ◽  
pp. 1060-1068 ◽  
Author(s):  
Morteza Dehnokhalaji ◽  
Mohammad Reza Golbakhsh ◽  
Babak Siavashi ◽  
Parham Talebian ◽  
Sina Javidmehr ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Internal Fixation ◽  
Intervertebral Discs ◽  
Degenerative Changes

scholarly journals A G protein-coupled receptor is required in cartilaginous and dense connective tissues to maintain spine alignment

2021 ◽  
Author(s):  
Zhaoyang Liu ◽  
Amro A. Hussien ◽  
Yunjia Wang ◽  
Terry Heckmann ◽  
Roberto Gonzalez ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Association Studies ◽  
Genetic Regulation ◽  
Biomechanical Properties ◽  
Intervertebral Discs ◽  
Fine Tuning ◽  
List Type ◽  
Connective Tissues ◽  
Cartilaginous Tissues

SummaryAdolescent idiopathic scoliosis (AIS) is the most common spine disorder affecting children worldwide, yet little is known about the pathogenesis of this disorder. Here, we demonstrate that genetic regulation of structural components of the axial skeleton, the intervertebral discs and dense connective tissues (e.g., ligaments and tendons), are essential for maintenance of spinal alignment. We show that the G-coupled protein receptor Adgrg6, previously implicated in human AIS association studies, is required in these tissues to maintain typical spine morphology. We show that Adgrg6 regulates biomechanical properties of tendon and stimulates CREB signaling governing gene expression in cartilaginous tissues of the spine. Treatment with an cAMP agonist was able to mirror aspects of receptor function in culture defining core pathways for regulation of these axial connective tissues. As ADGRG6 is a key gene involved in human AIS, these findings open up novel therapeutic opportunities for human scoliosis.HighlightsKnockout mice lacking Adgrg6 function in the tendons and ligaments of the spine develop perinatal-onset thoracic scoliosis.Loss of Adgrg6 function in cartilaginous tissues of the discs contribute to the incidence and severity of scoliosis.The loss of Adgrg6 function in spine tissues provide a model of construct validity for human adolescent idiopathic scoliosisFine tuning of the biomechanical properties of dense connective tissues is essential for maintaining spine alignment.

scholarly journals Imaging study of wedge changes in the vertebral bodies and intervertebral discs in adolescent idiopathic scoliosis

2009 ◽  
Vol 1 (4) ◽  
pp. 300-304 ◽  
Author(s):  
Hong-guang Xu ◽  
Gui-xing Qiu ◽  
Yi-peng Wang ◽  
Jian-guo Zhang ◽  
Yong Liu ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Imaging Study ◽  
Intervertebral Discs ◽  
Vertebral Bodies

scholarly journals Automatic Vertebrae Localization and Spine Centerline Extraction in Radiographs of Patients with Adolescent Idiopathic Scoliosis

2021 ◽  
Author(s):  
Gunarajulu Renganathan ◽  
Navin Manaswi ◽  
Ionuţ Ghionea ◽  
Sasa Cukovic
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Frontal Plane ◽  
Intervertebral Discs ◽  
High Variability ◽  
Spinal Curvature ◽  
Anatomical Landmarks ◽  
Spinal Alignment ◽  
Centerline Extraction ◽  
Correction Strategies

Adolescent Idiopathic Scoliosis (AIS) is lifetime disorder indicated by the abnormal spinal curvature, and it is usually detected in children and adolescents. Traditional radiographic assessment of scoliosis is time-consuming and unreliable due to high variability in images and manual interpretation. Vertebrae localization and centerline extraction from a biplanar X-ray is essential for pathological diagnosis, treatment planning, and decision making. The aim of this paper is to develop a fully automated framework to provide correct evaluation of anatomical landmarks and to extract vertebral and intervertebral discs’ centroids. By knowing coordinates of each centroid, developed framework will estimate 2D deformity curve (centerline) called Middle Spinal Alignment (MSA) in frontal plane. By analyzing the MSA lines and deformity segments, many deformity parameters can be calculated which include vertebral transpositions, Cobb angles, apex vertebra position, etc., for planning spinal correction strategies and monitoring.

Three-Dimensional Characterization of Torsion and Asymmetry of the Intervertebral Discs Versus Vertebral Bodies in Adolescent Idiopathic Scoliosis

Spine ◽  
2014 ◽  
Vol 39 (19) ◽  
pp. E1159-E1166 ◽  
Author(s):  
Tom P.C. Schlösser ◽  
Marijn van Stralen ◽  
Rob C. Brink ◽  
Winnie C. W. Chu ◽  
Tsz-Ping Lam ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Three Dimensional ◽  
Intervertebral Discs ◽  
Vertebral Bodies

scholarly journals Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome

2020 ◽  
Author(s):  
Nadja Makki ◽  
Jingjing Zhao ◽  
Zhaoyang Liu ◽  
Walter L Eckalbar ◽  
Aki Ushiki ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Connective Tissue ◽  
Idiopathic Scoliosis ◽  
Association Studies ◽  
Regulatory Elements ◽  
Intervertebral Discs ◽  
Genome Wide Association Studies ◽  
Specific Expression ◽  
Enhancer Activity ◽  
Genome Wide

Abstract Adolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is the most common pediatric musculoskeletal disorder, affecting ~ 3% of the population worldwide. However, its genetic bases and tissues of origin remain largely unknown. Several genome-wide association studies (GWAS) have implicated nucleotide variants in noncoding sequences that control genes with important roles in cartilage, muscle, bone, connective tissue and intervertebral discs (IVDs) as drivers of AIS susceptibility. Here, we set out to define the expression of AIS-associated genes and active regulatory elements by performing RNA-seq and ChIP-seq against H3K27ac in these tissues in mouse and human. Our study highlights genetic pathways involving AIS-associated loci that regulate chondrogenesis, IVD development and connective tissue maintenance and homeostasis. In addition, we identify thousands of putative AIS-associated regulatory elements which may orchestrate tissue-specific expression in musculoskeletal tissues of the spine. Quantification of enhancer activity of several candidate regulatory elements from our study identifies three functional enhancers carrying AIS-associated GWAS SNPs at the ADGRG6 and BNC2 loci. Our findings provide a novel genome-wide catalog of AIS-relevant genes and regulatory elements and aid in the identification of novel targets for AIS causality and treatment.

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