A genetic model for multimorbidity in young adults.


  • 影响因子:8.26
  • DOI:10.1038/s41436-019-0603-1
  • 作者列表:"Malecki SL","Van Mil S","Graffi J","Breetvelt E","Corral M","Boot E","Chow EWC","Sanches M","Verma AA","Bassett AS
  • 发表时间:2020-01-01

PURPOSE:Multimorbidity is increasing in younger adults but is understudied in this population. We used 22q11.2 deletion syndrome (22q11.2DS) as a genetic model to investigate multimorbidity in young to middle-aged adults. METHODS:Using the Anatomical Therapeutic Chemical (ATC) Classification System and setting five or more concurrent prescription medications as a proxy for multimorbidity, we compared data on 264 adults with 22q11.2DS (median age 27.8, range 17.3-68.3 years) with that for a community-based Canadian general population sample (n = 25,287). We used logistic regression to examine possible predictors of multimorbidity in 22q11.2DS. RESULTS:Multimorbidity in 22q11.2DS in the 25-44 year age group (34.7%) was significantly more prevalent than in the general population, both for the same age group (2.9%, prevalence ratio [PR] = 11.9, 95% CI 8.4-17.1) and compared with those aged 45-64 years (16.4%, PR = 2.1, 95% CI 1.6-2.7). Neuropsychiatric and endocrinological medication classes predominated. Within 22q11.2DS, older age and psychotic illness, but not sex, major congenital heart disease, or intellectual disability, were significant predictors of multimorbidity. CONCLUSION:The results indicate that adults with 22q11.2DS have a significant burden of illness with levels of multimorbidity comparable with those of the general population several decades older. In younger adults with multimorbidity, certain disease patterns may help identify genetic disorders in "big data."


目的: 在年轻成人中,多发病正在增加,但在该人群中研究不足。我们以 22q11.2 缺失综合征 (22q11.2DS) 为遗传模型,研究中青年多发病。 方法: 使用解剖治疗化学 (ATC) 分类系统,并设置 5 个或更多的同时处方药物作为多发病的代表,我们比较了 264 例成人 22q11 的数据。2DS (中位年龄 27.8,范围 17.3-68.3 岁) 与基于社区的加拿大普通人群样本 (n = 25,287)。我们使用logistic回归来检查 22q11.2DS中多发病的可能预测因素。 结果: 22q11 多发病。25-44 岁年龄组的 2DS (34.7%) 明显高于普通人群,均为同一年龄组 (2.9%,患病率 [PR] = 11.9,95% CI 8.4-17.1),与 45 ~ 64 岁人群比较 (16.4%,PR = 2.1,95% CI 1.6-2.7)。神经精神和内分泌用药类占主导地位。在 22q11.2DS内,年龄较大和精神病性疾病,而不是性别、主要先天性心脏病或智力障碍,是多发病的显著预测因子。 结论: 结果表明,患有 22q11.2DS的成年人有显著的疾病负担,多发病水平与几十年前的普通人群相当。在多发病的年轻成年人中,某些疾病模式可能有助于在 “大数据” 中识别遗传性疾病。



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.

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.

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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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