Learn More
Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS.(More)
Event-related potential (ERP), reaction time (RT), and response accuracy measures were obtained during the phonological and semantic categorization of spoken words in 14 undergraduates: 7 were average readers and 7 were reading-impaired. For the impaired readers, motor responses were significantly slower and less accurate than were those of the average(More)
Abnormalities in the melatonin signaling pathway and the involvement of melatonin receptor MT2 have been reported in patients with adolescent idiopathic scoliosis (AIS). Whether these abnormalities were involved in the systemic abnormal skeletal growth in AIS during the peripubertal period remain unknown. In this cross-sectional case-control study, growth(More)
The defect of the melatonin signaling pathway has been proposed to be one of the key etiopathogenic factors in adolescent idiopathic scoliosis (AIS). A previous report showed that melatonin receptor, MT2, was undetectable in some AIS girls. The present study aimed to investigate whether the abnormal MT2 expression in AIS is quantitative or qualitative.(More)
Adolescent idiopathic scoliosis (AIS) is a structural deformity of the spine affecting millions of children. As a complex disease, the genetic aetiology of AIS remains obscure. Here we report the results of a four-stage genome-wide association study (GWAS) conducted in a sample of 4,317 AIS patients and 6,016 controls. Overall, we identify three new(More)
Event-related potential (ERP), reaction time, and response accuracy measures were obtained during rhyming and semantic classification of spoken words in 10 average (mean age 11.64 years) and 9 impaired reading (mean age 12.10 years) children. The behavioral measures of classification did not distinguish the groups. In the ERPs, rhyme processing produced(More)
Ten adults (mean age 19.5 years; S.D. = 1.65) and 10 children (12.2 years; S.D. = 1.28) participated in a choice reaction time study of event-related potential (ERP) correlates of pattern and phonological discriminations of letters. In the form condition, the subjects responded discriminately to letters that did (e.g., b, p) and did not (e.g., f, h) have an(More)
High-resolution peripheral quantitative computed tomography (HR-pQCT) is a unique technology for assessing bone mineral density and bone microarchitecture. Currently, no universally accepted protocol for selecting the region of interest (ROI) at the distal radius has been established for growing subjects. This study aimed (1) to investigate the differences(More)
BACKGROUND Radiographic evaluation for patients with scoliosis using Cobb method is the current gold standard, but radiography has radiation hazards. Several groups have recently demonstrated the feasibility of using 3D ultrasound for the evaluation of scoliosis. Ultrasound imaging is radiation-free, comparatively more accessible, and inexpensive. However,(More)
Adolescent idiopathic scoliosis (AIS) is a structural curvature of the spine that was estimated to affect millions of children worldwide. Recent study shows that the functional variant rs10738445 could add to the risk of AIS through the regulation of BNC2 gene. This study aims to investigate whether the rs10738445 of BNC2 gene is a functional susceptible(More)
  • 1