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Bilateral Multilevel Cervical Rib and Bilateral Omovertebra in Klippel-Feil Syndrome.

Klippel-Feil综合征的双侧多节段颈肋和双侧Omovertebra。

  • 影响因子:1.52
  • DOI:10.1016/j.wneu.2020.01.010
  • 作者列表:"Satış S","Alparslan N","Tuna M","Dere O","Yetişgin A
  • 发表时间:2020-04-01
Abstract

BACKGROUND:Klippel-Feil syndrome was first described in 1912; a short neck, low posterior hairline, and decreased cervical joint range of motion are the classical triad of this disease. In this syndrome, which is rarely observed, the characteristics that have been reported include the following: scoliosis; Sprengel deformity; cervical rib; ear, nose, oral, and laryngeal abnormalities; structural abnormalities of the urinary system; and congenital heart diseases. However, bilateral omovertebra and bilateral multilevel cervical ribs have not been reported. CASE DESCRIPTION:We aimed to present this rare syndrome via radiologic findings from cases with bilateral multilevel cervical rib and bilateral omovertebra. CONCLUSIONS:Cases of Klippel-Feil syndrome may be accompanied by multiple abnormalities. We want to highlight the need for detailed examination of patients and lifestyle modification at an early age, before symptom appearance, as well as adaptation to habitual exercise.

摘要

背景: Klippel-Feil综合征首次被描述于 1912 年; 短颈、后发际线低和颈椎关节活动范围减小是该病的经典三联征。在这种很少观察到的综合征中,已经报道的特征包括以下: 脊柱侧凸; Sprengel畸形; 颈肋; 耳、鼻、口腔和喉部异常; 泌尿系统结构异常; 和先天性心脏病。然而,双侧全腹膜和双侧多节段颈肋尚未见报道。 病例描述: 我们的目的是通过双侧多节段颈肋和双侧omovertebra病例的影像学表现来呈现这种罕见的综合征。 结论: Klippel-Feil综合征可伴有多种异常。我们想强调需要对患者进行详细检查,并在早期、症状出现前改变生活方式,以及适应习惯性运动。

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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.

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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。

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