A5100461804- Scoliosis diagnosis and treatment
- Spinal Fractures and Fixation Techniques
- Spine and Intervertebral Disc Pathology
- Connective tissue disorders research
- Pelvic and Acetabular Injuries
- Medical Imaging and Analysis
- Spinal Dysraphism and Malformations
- Congenital heart defects research
- Genomics and Rare Diseases
- TGF-β signaling in diseases
- Genetic factors in colorectal cancer
- Intraoperative Neuromonitoring and Anesthetic Effects
- Cervical and Thoracic Myelopathy
- Congenital Diaphragmatic Hernia Studies
- Hip disorders and treatments
- Genomic variations and chromosomal abnormalities
- Surgical site infection prevention
- Bone Metabolism and Diseases
- Wnt/β-catenin signaling in development and cancer
- Cardiac, Anesthesia and Surgical Outcomes
- Medical and Biological Sciences
- Connective Tissue Growth Factor Research
- Spinal Hematomas and Complications
- Anesthesia and Pain Management
- Pediatric Hepatobiliary Diseases and Treatments
Peking Union Medical College Hospital
2016-2025
Chinese Academy of Medical Sciences & Peking Union Medical College
2016-2025
Academy of Medical Sciences
2021-2025
Beijing Institute of Big Data Research
2024-2025
Beijing Tian Tan Hospital
2024
Capital Medical University
2022-2024
BGI Group (China)
2024
University of Calgary
2021-2023
Capital University
2022-2023
Wuhan University
2022-2023
Leveraging protein structural information to evaluate pathogenicity has been hindered by the scarcity of experimentally determined 3D protein. With aid AlphaFold2 predictions, we developed structure-informed genetic missense mutation assessor (SIGMA) predict variant pathogenicity. In comparison with existing predictors across labeled datasets and experimental datasets, SIGMA demonstrates superior performance in predicting (AUC = 0.933). We found that relative solvent accessibility mutated...
Retrospective study.To evaluate clinical outcomes of dual growing rod (GR) technique in treating children with congenital scoliosis (CS).Published reports on the GR results early-onset demonstrate it to be safe and effective. However, use spinal deformities is controversial, there have been no complications for CS large series patients.During 2004 2009, a total 30 patients underwent procedures. Of 159 procedures conducted within treatment period, 125 were lengthenings an average 4.2 per...
Update This article was updated on December 22, 2023, because of a previous error. Specifically, there an error in one the grant numbers mentioned article. In Source Funding paragraph, text that had previously read “2022-PUMCH-D-007” now reads “2022-PUMCH-D-004.” An erratum has been published: J Bone Joint Surg Am. 2024 Feb 7;106(3):e8. Background: Congenital scoliosis is frequently associated with anomalies multiple organ systems. However, prevalence and distribution remain unclear, large...
Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis or somite differentiation. While Wnt/ß-catenin signaling has been implicated development, the function of Wnt/planar cell polarity (Wnt/PCP) this process remains unclear. Here, we investigated role
In Brief Study Design. A prospective study. Objective. Comparison study of radiologic and clinical outcomes, efficiency, cost between anterior spinal fusion (ASF) posterior spine (PSF) in surgical treatment moderate lumbar/thoracolumbar adolescent idiopathic scoliosis (AIS). Summary Background Data. ASF PSF indicated for lumbar thoracolumbar have respective advantages disadvantages. However, up until today, a related AIS comparative has rarely been reported. Methods. Thirty-two cases this...
There have been many reports on posterior hemivertebra resection. However, there were few articles in very young cases. This is a clinical retrospective study to evaluate the complications and efficacy of resection From January 2003 2012, 39 consecutive cases congenital scoliosis with retrospectively investigated our hospital, including 18 females 21 males, aged from 65 months old (average 42.4 months). All underwent transpedicular instrumentation. Clinical charts radiographs spine reviewed...
Abstract Congenital vertebral malformation, affecting 0.13–0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital malformation 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the reveals a muscle-related disease mechanism. Gene-based burden test ultra-rare variants risk genes large effect sizes ( ITPR2 , TBX6 TPO H6PD...
Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate genetic contribution that has been deciphered in large cohort. In retrospective cohort 311 patients AN, pathogenic and likely variants 23 genes were identified 98 (31.5% patients), 14 mutated two or more patients. Among subgroups the prevalence was 54.4% 56.2% trios families, while 22.9% cases proband-only; 45.7% 25.6% infant non-infant group; 33.7% 0% bilateral unilateral AN cases. Most OTOF...
Background: The treatment of congenital scoliosis associated with split cord malformation (SCM) raises the issue how to best manage such patients avoid neurological deficit while achieving a satisfactory correction. Methods: This prospective clinical study was performed at our center from March 2000 through June 2013. We enrolled total 214 (61 male and 153 female) SCM who were undergoing spinal correction surgery. mean age surgery 14.1 years. inclusion criteria confirmed SCM; status as...
Adolescent idiopathic scoliosis (AIS) is the most common form of spinal deformity, affecting millions adolescents worldwide, but it lacks a defined theory etiopathogenesis. Because this, treatment AIS limited to bracing and/or invasive surgery after onset. Preonset diagnosis or preventive remains unavailable. Here, we performed genetic analysis large multicenter cohort and identified disease-causing predisposing variants SLC6A9 in multigeneration families, trios, sporadic patients. Variants...
Abstract Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are associated with significant health problems including congenital scoliosis (CS) recurrent organ system malformation syndromes such as VACTERL (vertebral anomalies; anal abnormalities; cardiac tracheo-esophageal fistula; renal limb anomalies). The genetic cause for the vast majority VMs unknown. In a CS/VM patient cohort, three COL11A2 variants (R130W, R1407L R1413H) were identified in two patients...
Importance Currently, the diagnostic yield of exome sequencing (ES) and chromosomal microarray analysis (CMA) for short stature cohorts is uncertain. Despite previous studies reporting widespread use ES CMA, a definitive has not been established. Objective To investigate CMA in stature. Data Sources A systematic literature search was conducted using relevant keywords 3 databases (PubMed, Embase, Web Science) February 2023. Study Selection Eligible meta-analysis were those that had at least...
SOX9 is a crucial transcriptional regulator of cartilage development and homeostasis. Dysregulation associated with wide spectrum skeletal disorders, including campomelic dysplasia, acampomelic scoliosis. Yet how variants contribute to the axial disorders not well understood. Here, we report four pathogenic identified in cohort patients congenital vertebral malformations. We missense variant transactivation middle (TAM) domain mild dysplasia isolated Sox9 mutant mouse an in-frame...
Background: A lumbosacral hemivertebra (LSHV) presents a complex challenge in treating congenital scoliosis. Previous studies have proven the effectiveness of posterior LSHV resection. However, they primarily focused on coronal balance, neglecting sagittal alignment, which is crucial for spinal function. The aim this retrospective study was to assess preoperative imbalance patients with an and evaluate evolution alignment following resection short-segment fusion. Methods: analysis performed...
The osteotomy surgery for ankylosing spondylitis (AS) presents a higher risk of dural injury and cerebrospinal fluid leakage compared to conventional spinal surgical procedures. However, there is currently lack systematic summaries in this field. This study aims present the incidence factors associated with tears (CSF) during corrective procedures AS kyphotic deformity. A retrospective analysis was conducted on patients diagnosed our hospital between June 2014 May 2024 who presented...