小狗阅读会员会员
医学顶刊SCI精读工具

扫码登录小狗阅读

阅读SCI医学文献
Document
订阅泛读方向 订阅泛读期刊
  • 我的关注
  • 我的关注
  • {{item.title}}

    按需关注领域/方向,精准获取前沿热点

  • {{item.title}}

    {{item.follow}}人关注

  • {{item.subscribe_count}}人订阅

    IF:{{item.impact_factor}}

    {{item.title}}

A clinical scoring system for congenital contractural arachnodactyly.

先天性挛缩性结节性的临床评分系统。

  • 影响因子:8.26
  • DOI:10.1038/s41436-019-0609-8
  • 作者列表:"Meerschaut I","De Coninck S","Steyaert W","Barnicoat A","Bayat A","Benedicenti F","Berland S","Blair EM","Breckpot J","de Burca A","Destrée A","García-Miñaúr S","Green AJ","Hanna BC","Keymolen K","Koopmans M","Lederer D","Lees M","Longman C","Lynch SA","Male AM","McKenzie F","Migeotte I","Mihci E","Nur B","Petit F","Piard J","Plasschaert FS","Rauch A","Ribaï P","Pacheco IS","Stanzial F","Stolte-Dijkstra I","Valenzuela I","Varghese V","Vasudevan PC","Wakeling E","Wallgren-Pettersson C","Coucke P","De Paepe A","De Wolf D","Symoens S","Callewaert B
  • 发表时间:2020-01-01
Abstract

PURPOSE:Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, and overlap with other conditions including Marfan syndrome, the diagnosis is challenging, but important for prognosis and clinical management. CCA is caused by pathogenic variants in FBN2, encoding fibrillin-2, but locus heterogeneity has been suggested. We designed a clinical scoring system and diagnostic criteria to support the diagnostic process and guide molecular genetic testing. METHODS:In this retrospective study, we assessed 167 probands referred for FBN2 analysis and classified them into a FBN2-positive (n = 44) and FBN2-negative group (n = 123) following molecular analysis. We developed a 20-point weighted clinical scoring system based on the prevalence of ten main clinical characteristics of CCA in both groups. RESULTS:The total score was significantly different between the groups (P < 0.001) and was indicative for classifying patients into unlikely CCA (total score <7) and likely CCA (total score ≥7) groups. CONCLUSIONS:Our clinical score is helpful for clinical guidance for patients suspected to have CCA, and provides a quantitative tool for phenotyping in research settings.

摘要

目的: 先天性关节挛缩 (CCA) 是一种常染色体显性遗传的结缔组织疾病,以关节挛缩、皱耳、脊柱侧后凸为主要特征。由于其罕见,相当特殊的临床表现,以及与包括马凡综合征在内的其他疾病重叠,诊断具有挑战性,但对预后和临床管理很重要。CCA是由FBN2 的致病性变异引起的,编码fibrillin-2,但已经提出了位点异质性。我们设计了临床评分系统和诊断标准,以支持诊断过程和指导分子遗传学检测。 方法: 在这项回顾性研究中,我们评估了 167 例转诊进行FBN2 分析的先证者,并在分子分析后将其分为FBN2-positive组 (n = 44) 和FBN2-negative组 (n = 123)。我们根据两组CCA的 10 个主要临床特征的患病率,开发了 20 分加权临床评分系统。 结果: 两组之间的总分有显著差异 (p <0.001),并提示将患者分类为不太可能的CCA (总分 <7) 和可能的CCA (总分 ≥ 7) 组。 结论: 我们的临床评分有助于对疑似CCA患者进行临床指导,并为研究环境中的表型分型提供了定量工具。

下载该文献
小狗阅读

帮助医生、学生、科研工作者解决SCI文献找不到、看不懂、阅读效率低的问题。提供领域精准的SCI文献,通过多角度解析提高文献阅读效率,从而使用户获得有价值研究思路。

相关文献
影响因子:3.51
发表时间:2020-03-01
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
发表时间:2020-02-01
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.

关键词: 暂无
翻译标题与摘要 下载文献
肌肉骨骼畸形方向

肌肉骨骼系统的先天性结构异常和畸形。

复制标题
发送后即可在该邮箱或我的下载查看该文献
发送
该文献默认存储到我的下载

科研福利

临床科研之家订阅号

报名咨询

建议反馈
问题标题:
联系方式:
电子邮件:
您的需求: