Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q.


STUDY DESIGN:A single large family, in which adolescent idiopathic scoliosis (AIS) and pectus excavatum (PE) segregate as an autosomal dominant condition, was evaluated. Genome-wide linkage analysis and candidate gene sequencing were performed. OBJECTIVE:To map the disease-causing locus in a large white family in which AIS and PE cosegregate. SUMMARY OF BACKGROUND DATA:AIS and PE are common musculoskeletal conditions known to have a genetic component, though few genes have been identified for either. Genetic studies have been confounded by a lack of large families in which the disorders segregate. METHODS:Clinical examinations were performed on the proband, who underwent posterior spinal fusion, and 12 additional affected family members. To map a gene causing AIS and PE, a genome-wide linkage analysis was performed with the Affymetrix Mapping 10 K XbaI array on 13 affected and 10 unaffected family members. Candidate genes were sequenced. RESULTS:AIS was present in 13 female family members and PE was present in 3 males and 1 female. Genome-wide linkage analysis resulted in a linkage peak on chromosome 18 q with a maximum parametric multipoint logarithm of the odds score of 3.86. Recombinants delineated the critical genetic region to an interval of 6.4 cM between SNP_A-1519369 and SNP_A-1507702, corresponding to a 7.06-Mb region (hg18: chr18:26342508-34395660). The chromosome 18 q linkage region contains more than 30 genes. Resequencing of the coding regions of 21 candidate genes in the region did not reveal any causative mutation. CONCLUSION:Linkage analysis in this large family demonstrated a novel locus for AIS and PE on chromosome 18 q. Because of the increased frequency of PE in family members of AIS patients, consideration of family members with PE as affected may increase the power of AIS genetic linkage studies.


Spine (Phila Pa 1976)




Gurnett CA,Alaee F,Bowcock A,Kruse L,Lenke LG,Bridwell KH,Kuklo T,Luhmann SJ,Dobbs MB




Has Abstract


2009-01-15 00:00:00
















  • Spondylectomy for Giant Cell Tumor After Denosumab Therapy.

    abstract:STUDY DESIGN:A case report. OBJECTIVE:To report a case of the lumbar giant cell tumor (GCT) utilizing a new clinical treatment modality (denosumab therapy), which showed a massive tumor reduction combined with the L4 spondylectomy. SUMMARY OF BACKGROUND DATA:There are some controversies about spinal GCT treatments. D...


    pub_type: 杂志文章


    authors: de Carvalho Cavalcante RA,Silva Marques RA,dos Santos VG,Sabino E,Fraga AC Jr,Zaccariotti VA,Arruda JB,Fernandes YB

    更新日期:2016-02-01 00:00:00

  • Cost-effectiveness of a Bone-anchored Annular Closure Device Versus Conventional Lumbar Discectomy in Treating Lumbar Disc Herniations.

    abstract:STUDY DESIGN:Cost-utility analysis of an annular closure device (ACD) based on data from a prospective, multicenter randomized controlled trial (RCT) OBJECTIVE.: The aim of this study was to determine the cost-effectiveness of a novel ACD in a patient population at high risk for recurrent herniation following discectom...


    pub_type: 杂志文章,多中心研究,随机对照试验


    authors: Ament J,Thaci B,Yang Z,Kulubya E,Hsu W,Bouma G,Kim KD

    更新日期:2019-01-01 00:00:00

  • Spinal pain mechanisms.

    abstract::Pain is an extremely complex process that involves the interaction of an array of neurotransmitters and neuromodulators at all levels of the neuraxis. Identification of the receptors and processes that are involved in the transmission of pain at a spinal level has led to the use of new agents and new techniques in pai...


    pub_type: 杂志文章,评审


    authors: Siddall PJ,Cousins MJ

    更新日期:1997-01-01 00:00:00

  • Mismatch Between Proximal Rod Contouring and Proximal Junctional Angle: A Predisposed Risk Factor for Proximal Junctional Kyphosis in Degenerative Scoliosis.

    abstract:STUDY DESIGN:A retrospective study. OBJECTIVE:To investigate whether the mismatch between proximal junctional angle (PJA) and the proximal rod contouring contributed to the occurrence of postoperative proximal junctional kyphosis (PJK) in degenerative scoliosis. SUMMARY OF BACKGROUND DATA:PJK is one of the complicati...


    pub_type: 杂志文章


    authors: Yan P,Bao H,Qiu Y,Bao M,Varghese JJ,Sun X,Liu Z,Zhu Z,Qian B,Zheng M,Zhu F

    更新日期:2017-03-01 00:00:00

  • Cross-cultural adaptation, reliability, and validity of the Chinese version of the STarT Back Screening Tool in patients with low back pain.

    abstract:STUDY DESIGN:Translation and psychometric testing. OBJECTIVE:The study aims to investigate the reliability and validity of the Chinese version of the STarT Back Screening Tool (STarT) in Chinese-speaking patients with low back pain (LBP) after translation and cultural adaptation. SUMMARY OF BACKGROUND DATA:To date, n...


    pub_type: 杂志文章


    authors: Luan S,Min Y,Li G,Lin C,Li X,Wu S,Ma C,Hill JC

    更新日期:2014-07-15 00:00:00

  • Lumbar vertebral canal morphometry for computerised tomography in spinal stenosis.

    abstract::Computerised tomography is described in recent literature as a sophisticated but noninvasive technique with a particularly appropriate application in the discovery of space-occupying lesions in the lumbar vertebral canal and nerve root tunnels. Although the spinal stenosis syndrome must remain a clinical diagnosis in ...


    pub_type: 杂志文章


    authors: Eisenstein S

    更新日期:1983-03-01 00:00:00

  • Role of sodium in the pathophysiology of secondary spinal cord injury.

    abstract:STUDY DESIGN:Experimental study using an in vitro model of compressive injury to isolated adult rat dorsal column axons. OBJECTIVES:To examine the role of extracellular Na+ (Na+e) in mediating secondary injury to spinal cord axons after compressive trauma. The mechanisms of intracellular sodium entry were examined usi...


    pub_type: 杂志文章


    authors: Fehlings MG,Agrawal S

    更新日期:1995-10-15 00:00:00

  • Isokinetic trunk and lifting strength measurements: variability as an indicator of effort.

    abstract::This study examines the hypothesis that force/distance curve variability distinguishes submaximal from maximal efforts in isokinetic trunk and lifting strength tests. Thirty normal subjects were tested on the Cybex Trunk Extension/Flexion (TEF) and Liftask (LT) machines during maximal (100%) and submaximal (50%) effor...


    pub_type: 杂志文章


    authors: Hazard RG,Reid S,Fenwick J,Reeves V

    更新日期:1988-01-01 00:00:00

  • Randomized clinical study to compare the accuracy of navigated and non-navigated thoracic pedicle screws in deformity correction surgeries.

    abstract:STUDY DESIGN:Randomized clinical trial (level I evidence). OBJECTIVE:To compare the accuracy of non-navigation and Iso-C based navigation in pedicle screw fixation in thoracic spine deformities. SUMMARY OF BACKGROUND DATA:Thoracic pedicle screw insertion for spinal deformity correction can be associated with increase...


    pub_type: 杂志文章,随机对照试验


    authors: Rajasekaran S,Vidyadhara S,Ramesh P,Shetty AP

    更新日期:2007-01-15 00:00:00

  • An outcomes analysis of the treatment of cervical pseudarthrosis with posterior fusion.

    abstract:STUDY DESIGN:A retrospective review of 33 consecutive patients treated with posterior fusion and selective nerve root decompression for the treatment of pseudarthrosis following anterior cervical discectomy and fusion. OBJECTIVES:Use standardized outcome measures to evaluate the results of posterior fusion with select...


    pub_type: 杂志文章


    authors: Kuhns CA,Geck MJ,Wang JC,Delamarter RB

    更新日期:2005-11-01 00:00:00

  • Factors predicting the result of surgery for lumbar intervertebral disc herniation.

    abstract::The prospective study was undertaken to find out preoperative or perioperative factors predicting the results of the first surgery for lumbar disc herniation. The results were evaluated 1 and 6 months postoperatively using, in addition to the patient evaluation, indices for pain, activities of daily living (ADL), and ...


    pub_type: 杂志文章


    authors: Hurme M,Alaranta H

    更新日期:1987-11-01 00:00:00

  • Use of vascularized fibular grafts as a salvage procedure for previously failed spinal arthrodesis.

    abstract:STUDY DESIGN:A case series of spinal arthrodesis performed with vascularized fibular grafts is presented. OBJECTIVES:The use of vascularized fibular grafts to obtain anterior spinal fusion in patients with complex spinal disorders and poor fusion environments is described. SUMMARY OF BACKGROUND DATA:The fusion succes...


    pub_type: 杂志文章


    authors: Kim CW,Abrams R,Lee G,Hoyt D,Garfin SR

    更新日期:2001-10-01 00:00:00

  • Magnetic resonance imaging and ultrasonography of the lumbar multifidus muscle. Comparison of two different modalities.

    abstract:STUDY DESIGN:An operator-blinded dual modality trial of measurement of lumbar multifidus muscle cross-sectional area was performed. OBJECTIVE:To compare two imaging modalities used for measurement of the lumbar multifidus muscle. METHODS:Ten normal female subjects aged 21-31 years were imaged on two separate days usi...


    pub_type: 杂志文章


    authors: Hides JA,Richardson CA,Jull GA

    更新日期:1995-01-01 00:00:00

  • Organic status, psychological disturbance, and pain report characteristics in low-back-pain patients on compensation.

    abstract::The relationship betewwn compensation and three variables--psychologic disturbance, organic status, and pain report characteristics--was assessed. Patients on compensation were clinically similar to patients not on compensation in the relative frequency of cases of psychologic disturbance and nonorganic findings in ea...


    pub_type: 杂志文章


    authors: Leavitt F,Garron DC,McNeill TW,Whisler WW

    更新日期:1982-07-01 00:00:00

  • Primary spinal natural killer/T-cell lymphoma successfully treated with concurrent chemoradiotherapy and autologous stem cell transplantation.

    abstract:STUDY DESIGN:This case report shows primary natural killer (NK)/T-cell lymphoma originating in the spine as the first case of successful treatment with autologous stem cell transplantation, along with case presentation and literature review. OBJECTIVE:For the proper treatment of this spinal tumor, the pathologic confi...


    pub_type: 杂志文章


    authors: Kim KT,Kim YB,Kim HJ,Cha YJ,Lee SJ,Park E

    更新日期:2012-05-01 00:00:00

  • Vibration modes of injured spine at resonant frequencies under vertical vibration.

    abstract:STUDY DESIGN:A detailed three-dimensional finite element model of the spine segment T12-Pelvis was developed to investigate dynamic characteristics of whole lumbar spine with injured cases. OBJECTIVE:This study investigates the motion mechanism of the human lumbar spine and the effect of component injuries on adjacent...


    pub_type: 杂志文章


    authors: Guo LX,Zhang M,Zhang YM,Teo EC

    更新日期:2009-09-01 00:00:00

  • Blood serum antibody analysis and long-term follow-up of patients treated with recombinant human bone morphogenetic protein-2 in the lumbar spine.

    abstract:STUDY DESIGN:Prospective, longitudinal cohort study. OBJECTIVE:To examine the incidence of bone morphogenetic protein (BMP)-2 antibody formation in lumbar spine applications and to determine the clinical significance of an antibody response. SUMMARY OF BACKGROUND DATA:Immune responses can affect the safety and effica...


    pub_type: 杂志文章


    authors: Burkus JK,Gornet MF,Glassman SD,Slosar PJ,Rosner MK,Deckey JE,Nowak J,Hatcher BM

    更新日期:2011-12-01 00:00:00

  • Coexistence of cervical and lumbar disc disease.

    abstract::A retrospective analysis of 200 patients requiring cervical disc surgery was performed to determine the frequency of coexistent lumbar disc or spine abnormalities. The duration of follow-up ranged from 5 to 25 years, averaging 14 years. Sixty percent were women and 40% were men, their ages ranging from 25-73 years. An...


    pub_type: 杂志文章


    authors: Jacobs B,Ghelman B,Marchisello P

    更新日期:1990-12-01 00:00:00

  • Comparison of TLIF with rhBMP-2 versus no TLIF and higher posterolateral rhBMP-2 dose at L5-S1 for long fusions to the sacrum with sacropelvic fixation in patients with primary adult deformity.

    abstract:STUDY DESIGN:Comparvative case series. Data was prospectively entered and retrospectively analyzed. OBJECTIVE:To evaluate the need for distal lumbar interbody fusion when sufficient recombinant human bone morphogenetic protein-2 (rhBMP-2) is used posterolaterally at L5-S1 in long spinal constructs for adult deformity ...


    pub_type: 杂志文章


    authors: Rahman RK,Buchowski JM,Stephens B,Dorward IG,Koester LA,Bridwell KH

    更新日期:2013-12-15 00:00:00

  • Bone Turnover Markers as a New Predicting Factor for Nonunion After Spinal Fusion Surgery.

    abstract:STUDY DESIGN:Retrospective observational study. OBJECTIVE:We investigated whether bone turnover markers could be a useful indicator for prediction of nonunion. SUMMARY OF BACKGROUND DATA:Nonunion is a major complication of lumbar spinal fusion surgery. The involvement of bone turnover in the process of bony union in ...


    pub_type: 杂志文章


    authors: Inose H,Yamada T,Mulati M,Hirai T,Ushio S,Yoshii T,Kato T,Kawabata S,Okawa A

    更新日期:2018-01-01 00:00:00

  • Identifying sources of variability in scoliosis classification using a rule-based automated algorithm.

    abstract:STUDY DESIGN:Use of a rule-based automated algorithm to determine sources of variability in radiographic classification. OBJECTIVES:To determine whether unambiguous rules encoded in a computer program would ensure reliable classification. SUMMARY OF BACKGROUND DATA:Reliability problems have been identified in classif...


    pub_type: 杂志文章


    authors: Stokes IA,Aronsson DD

    更新日期:2002-12-15 00:00:00

  • Low fusion rate after L5-S1 laparoscopic anterior lumbar interbody fusion using twin stand-alone carbon fiber cages.

    abstract:STUDY DESIGN:Prospective study of a cohort of patients who underwent L5-S1 laparoscopic anterior lumbar interbody fusion. OBJECTIVES:To assess the fusion rate and the clinical outcome more than 2 years after L5-S1 laparoscopic anterior lumbar interbody fusion using twin stand-alone carbon-fiber cages. SUMMARY OF BACK...


    pub_type: 临床试验,杂志文章


    authors: Pellisé F,Puig O,Rivas A,Bagó J,Villanueva C

    更新日期:2002-08-01 00:00:00

  • Segmental ("floating") lumbar spine fusions.

    abstract::A traditional teaching in orthopaedic surgery has been that, in cases of fusion for L4-5 discopathy or instability, one must include the lumbosacral joint. There is nothing in the literature to support this time-honored dictum. The senior author, among others, has rejected this concept; and, the authors are, therefore...


    pub_type: 杂志文章


    authors: Brodsky AE,Hendricks RL,Khalil MA,Darden BV,Brotzman TT

    更新日期:1989-04-01 00:00:00

  • Efficacy of linezolid versus vancomycin in the treatment of methicillin-resistant Staphylococcus aureus discitis: a controlled animal model.

    abstract:STUDY DESIGN:A rabbit model was used to assess the efficacy of linezolid and vancomycin for the treatment of discitis due to methicillin-resistant Staphylococcus aureus (MRSA). Nontreated controls were used for comparison. OBJECTIVE:The purpose of this study was to determine if there was a therapeutic difference betwe...


    pub_type: 杂志文章


    authors: Conaughty JM,Chen J,Martinez OV,Chiappetta G,Brookfield KF,Eismont FJ

    更新日期:2006-10-15 00:00:00

  • Thoracolumbar kyphosis in treated mucopolysaccharidosis 1 (Hurler syndrome).

    abstract:STUDY DESIGN:A retrospective radiographical follow-up study of thoracolumbar deformity in 33 children with mucopolysaccharidosis 1 (Hurler syndrome). OBJECTIVE:To report the severity, natural history, risk factors for progression, and results of intervention for thoracolumbar kyphosis in children with Hurler syndrome....


    pub_type: 杂志文章


    authors: Yasin MN,Sacho R,Oxborrow NJ,Wraith JE,Williamson JB,Siddique I

    更新日期:2014-03-01 00:00:00

  • Abdominal Vascular Injury During Posterior Lumbar Discectomy, Experience from Three Cases and Review of Literature.

    abstract:STUDY DESIGN:Case series and review of literature. OBJECTIVE:To report three cases of vascular injury during posterior lumbar disc surgery, two of these occurred during open discectomy, and one during an endoscopic surgery. Aim is to highlight importance of early diagnosis and prompt steps taken to prevent morbidity a...


    pub_type: 杂志文章,评审


    authors: Goel A,Kumar P,Bahadur R

    更新日期:2019-10-15 00:00:00

  • A reliable and accurate method for measuring orthosis wearing time.

    abstract:STUDY DESIGN:Compliance monitor measurement of orthosis wearing time during laboratory climate tests and normal volunteer subject tests were compared to normal diaries. OBJECTIVE:To develop and test the accuracy and reliability of a device designed to measure spinal orthosis wearing time. SUMMARY OF BACKGROUND DATA:O...


    pub_type: 杂志文章


    authors: Havey R,Gavin T,Patwardhan A,Pawelczak S,Ibrahim K,Andersson GB,Lavender S

    更新日期:2002-01-15 00:00:00

  • Wire-holding frame for sublaminar segmental spinal instrumentation.

    abstract:METHODS:A wire-holding frame developed for sublaminar segmental instrumentation (SSI) has been used at the authors' institution for 14 years. RESULTS:In addition to careful technique of sublaminar wire passage, the frame reduces the risk of potential neurologic injury after wire passage by keeping the wires taut again...


    pub_type: 杂志文章


    authors: Segal LS,Schwentker EP

    更新日期:1994-05-15 00:00:00

  • Correlation of scoliosis curve correction with the number and type of fixation anchors.

    abstract:STUDY DESIGN:Clinical and radiologic assessment derived from a prospective multicenter data base of adolescent idiopathic scoliosis (AIS) patients. OBJECTIVE:We investigated if "implant density" or the number of screws correlated with the major curve (thoracic or lumbar) correction at 2 years in patients with AIS. We ...


    pub_type: 杂志文章


    authors: Clements DH,Betz RR,Newton PO,Rohmiller M,Marks MC,Bastrom T

    更新日期:2009-09-15 00:00:00

  • Quantifying the stress induced by distress in patients with lumbar disc herniation in terms of natural killer cell activity measurements: chromium release assay versus multiparameter flow cytometric assay.

    abstract:STUDY DESIGN:A comparative study was conducted. OBJECTIVES:To attempt quantification of the stress in patients with lumbar disc herniation by measuring natural killer cell activity, and to evaluate the assay methodology. SUMMARY OF BACKGROUND DATA:Stressful events may have adverse effects on health. Distress in the p...


    pub_type: 临床试验,杂志文章


    authors: Sato N,Kikuchi S,Sato K

    更新日期:2002-10-01 00:00:00