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The ADAMTS9 gene is associated with mandibular retrusion in a Chinese population.

ADAMTS9 基因与中国人群下颌骨退缩相关。

  • 影响因子:2.60
  • DOI:10.1016/j.gene.2020.144701
  • 作者列表:"Cai Y","Ni Z","Chen W","Zhou Y
  • 发表时间:2020-07-30
Abstract

OBJECTIVE:Many studies suggest that genetics plays an important role in mandibular retrusion. In this study, we hypothesized that single nucleotide polymorphisms (SNPs) of ADAMTS9 gene is associated with mandibular retrusion in a Han Chinese population. METHODS:Saliva samples from 60 patients undergoing orthodontic for correction of malocclusion were collected. 130 SNPs genotyping of ADAMTS9 was used to asses the association of polymorphisms with the mandibular retrusion. The general linear model using age,gender and ANB as covariates weighed the relationship between SNP and mandibular retrusion. Additionally we leveraged the generalized multifactor dimensionality reduction (GMDR) method to investigate SNP-SNP interactions. The significance level was set at P < 0.05 in this study. RESULTS:The general linear model results showed that four SNPs (rs1014640,rs7648540,rs75839462 and rs4605539) in the ADAMTS9 gene may be related to the occurrence of mandibular retrusion,even after Bonferroni correction. In addition, we further found that the interaction between the ADAMTS9 rs75839462 and ADAMTS9 rs80118777 promoted the occurrence of mandibular retrusion. CONCLUSION:Our finding suggest that the ADAMTS9 gene may cause mandibular retrsusion independently and through SNP-SNP interactions.

摘要

目的: 许多研究认为遗传学在下颌后缩中起着重要作用。在本研究中,我们假设ADAMTS9 基因的单核苷酸多态性 (SNPs) 与中国汉族人群的下颌骨退缩相关。 方法: 收集 60 例正畸矫治错牙合畸形患者的唾液标本。采用ADAMTS9 的 130 个SNPs基因分型评价多态性与下颌后缩的相关性。以年龄、性别和ANB为协变量的一般线性模型权衡了SNP与下颌骨退缩的关系。此外,我们利用广义多因子降维 (GMDR) 方法研究SNP-SNP相互作用。本研究中的显著性水平设定为P <0.05。 结果: 一般线性模型结果显示,ADAMTS9 基因中的 4 个SNPs (rs1014640 、rs7648540 、rs75839462 和rs4605539) 可能与下颌退缩的发生有关,即使在Bonferroni矫正后也是如此。此外,我们进一步发现ADAMTS9 rs75839462 和ADAMTS9 rs80118777 之间的相互作用促进了下颌后缩的发生。 结论: 我们的发现表明ADAMTS9 基因可能独立地通过SNP-SNP相互作用引起下颌骨退缩。

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DOI:10.1007/s00787-019-01345-1
作者列表:["Peyroux E","Babinet MN","Cannarsa C","Madelaine C","Favre E","Demily C","Michael GA"]

METHODS::Impairments in social cognition have been frequently described in 22q11.2 deletion syndrome (22q11.2DS) and are thought to be a hallmark of difficulties in social interactions. The present study addresses aspects that are critical for everyday social cognitive functioning but have received little attention so far. Sixteen children with 22q11.2DS and 22 controls completed 1 task of facial expression recognition, 1 task of attribution of facial expressions to faceless characters involved in visually presented social interactions, and 1 task of attribution of facial expressions to characters involved in aurally presented dialogues. All three tasks have in common to involve processing of emotions. All participants also completed two tasks of attention and two tasks of visual spatial perception, and their parents completed some scales regarding behavioural problems of their children. Patients performed worse than controls in all three tasks of emotion processing, and even worse in the second and third tasks. However, they performed above chance level in all three tasks, and the results were independent of IQ, age and gender. The analysis of error patterns suggests that patients tend to coarsely categorize situations as either attractive or repulsive and also that they have difficulties in differentiating emotions that are associated with threats. An isolated association between the tasks of emotion and behaviour was found, showing that the more frequently patients with 22q11.2DS perceive happiness where there is not, the less they exhibit aggressive behaviour.

影响因子:0.95
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DOI:10.1007/s11845-019-02039-y
作者列表:["Sheridan GA","Nagle M","Howells C","Gallagher O","Kiely PJ","O'Toole P","Kelly PM","Moore DP"]

METHODS:BACKGROUND:We describe the first radiographic clinic in the literature for DDH and how this novel clinic can significantly improve the efficiency and cost-effectiveness of service in a tertiary referral centre. AIMS:A radiographic clinic for the management of developmental dysplasia of the hip was introduced in 2017 in our institution. We performed a detailed cost analysis to assess the economic savings made with the introduction of this new clinic. We assessed the efficiency of the service by identifying how many unnecessary outpatient visits were prevented. We also assessed the difference in times from referral to review between the two clinics. METHODS:Analysis of the clinic activity in 2017 was possible as all data was collected prospectively by the DDH CNS and stored in our database. Cost analysis was performed, and the savings made per patient along with the financial benefit to our institution was recorded. RESULTS:The new radiographic clinic reduced the cost of reviewing one patient by €162.51 per patient. There was a 73% discharge rate from the clinic which prevented 251 unnecessary patient visits to the outpatient department over the course of the year. There was a significant 11-day reduction in waiting times between referral and review when comparing the radiographic to the conventional clinic (p < 0.05). CONCLUSIONS:A radiographic clinic for the management of developmental dysplasia of the hip has a significant effect on the efficiency and overall cost-effectiveness of service provision in a tertiary referral centre.

翻译标题与摘要 下载文献
影响因子:2.43
发表时间:2020-01-15
DOI:10.5435/JAAOS-D-16-00918
作者列表:["Grigoryan G","Korcek L","Eidelman M","Paley D","Nelson S"]

METHODS:INTRODUCTION:Triple pelvic osteotomy (TPO) involves periacetabular osteotomies of the ilium, ischium, and pubis to reorient the acetabulum. This operation is indicated in certain situations for the treatment of developmental dysplasia of the hip, dysplastic neuromuscular hips, and for containment of the femoral head in cases of Legg-Calvé-Perthes disease. METHODS:This retrospective cohort study compares radiographic outcomes of patients who underwent TPO using two different techniques and describes a novel single-incision direct lateral approach. TPO was performed on 22 patients by the senior author. The first 10 patients underwent TPO through a single-incision anterolateral approach. The last 12 patients underwent TPO using the direct lateral approach. Preoperative and postoperative pelvic radiographs were reviewed for each patient, and the migration index and center-edge angle were recorded. RESULTS:The migration index and center-edge angle were evaluated and were not found to be significantly different between the anterolateral and direct lateral groups. The direct lateral approach is described. CONCLUSION:The direct lateral approach for TPO is equivalent to the anterolateral approach on radiographic evaluation. Advantages of the direct lateral approach include direct visualization of the ischial osteotomy, effective mobilization of the acetabulum, and safety of the sciatic nerve.

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