有限元法生物力学分析在青少年特发性脊柱侧凸治疗及病因研究中的应用

青少年特发性脊柱侧凸发病率较高且病情复杂,对青少年身心健康可造成显著影响,但其因病因不明,临床尚未形成治疗共识。近年来基于患者医学影像进行仿真建模的有限元法生物力学分析在青少年特发性脊柱侧凸治疗及其病因研究中已经有了一系列的应用。本文即从非手术治疗、手术治疗、病因研究、现有局限等角度对有限元法生物力学分析在青少年特发性脊柱侧凸中的应用进行综述,以期为临床实践及相关研究提供参考。     

Contributions of the NICHD neonatal research network's generic database to documenting and advancing the outcomes of extremely preterm infants

The Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network (NRN) maintains a database of extremely preterm infants known as the Generic Database (GDB). Begun in 1987, this database now includes more than 91,000 infants, most of whom are extremely preterm (<29 weeks gestation). The GDB has been the backbone of the NRN, providing high quality, prospectively collected data to study the changing epidemiology of extreme prematurity and its outcomes over time. In addition, GDB data have been used to generate hypotheses for prospective studies and to develop new clinical trials by providing information about the numbers and characteristics of available subjects and the expected event rates for conditions and complications to be studied. Since its inception, the GDB has been the basis of more than 200 publications in peer-reviewed journals, many of which have had a significant impact on the field of neonatology.     

Early-onset scoliosis: challenges and current management options

Early-onset scoliosis is one of the most challenging conditions facing spinal and paediatric surgeons and clinicians. The ultimate goal of treatment is to improve the children’s quality of life and to give them the best chance to develop to independent adults. However, the road to these goals is not an easy one. There are obstacles to be overcome, risks to be encountered; and difficult decisions to be inevitably made. The young age of the patients means they have significant growth potential. Managing the growing child means not only controlling and correcting the spinal deformity; but also preserving the motion and development of the spine, chest cavity and the cardiopulmonary system. Different treatment modalities exist to help these ambitions. These include observation, casting, bracing and surgery. However, nothing is more worthy of emphasis than the importance of a multi-team approach; with the involvement of surgeons, physicians, neurologists, nutritionists and physiotherapists. In this review we aim to shed some light on different management strategies; examining the principles behind them, their advantages and drawbacks; and some of the results reported in the literature. We will also explore some currently promising advances that might play a future role in managing early-onset scoliosis.     

The Duration of the correction loss after removing cheneau brace in patients with adolescent idiopathic scoliosis

Objective

The aim of the study was to evaluate the loss of truncal rotation over 54 hours after removing Chêneau brace.

Intraspinal anomalies: presentation,assessment, treatment and association with the development of scoliosis

The most common congenital intraspinal abnormalities presenting to medical attention is either a Chiari malformation with or without associated syringomyelia or caudal anomalies, such as tethered cord and fatty filum terminale. These intraspinal defects are usually diagnosed at birth or in early childhood, but they may also be identified in adult life due to newly presented neurological symptoms. Availability and use of appropriate imaging modalities, such as MRI and regular fetal screening has reduced the incidence of delayed diagnosis of spinal dysraphism and other accompanying congenital systemic anomalies. In view of the risk for neurological complications, prophylactic surgery is often recommended in spinal dysraphism; hence knowledge of various intraspinal abnormalities, their clinical presentation and natural history will allow early diagnosis and treatment in order to prevent neurological deterioration and irreversible morbidity. This review summarizes the embryological aspects and clinical manifestations of intraspinal abnormalities and provides a rational approach for evaluation and management in this group of patients.     

Identification of two pathogenic mutations in SORL1 in early-onset Alzheimer’s disease

The sortilin-related receptor 1 (SORL1) gene has been the subject of many studies focusing on frequent polymorphisms, which is associated with increased risk for Alzheimer’s Disease (AD). By whole-exome sequencing (WES), we identified two pathogenic missense mutations c.579C > G (p.F193L) and c.1397A > G (p.N466S) in SORL1. The two mutations were located in the same protein domain, and the two unrelated probands both had an onset of memory problems at less than 65 years of age, but their clinical manifestations and cranial imaging are different. The protein structure and function affected by these mutations were predicted using bioinformatics analysis, which suggested they were pathogenic. 3D protein structural analysis revealed that these amino acid substitutions might result in instability of protein structure and adverse intramolecular interactions. These findings suggest that both F193L and N466S should be thought as potential causative mutations in early-onset Alzheimer’s disease (EOAD) patients. Further functional studies are warranted to evaluate their roles in the pathogenesis of AD.     

退变性腰椎侧凸合并类风湿性关节炎患者侧凸程度的影响因素分析

目的 :分析退变性腰椎侧凸(degenerative lumbar scoliosis,DLS)合并类风湿性关节炎(rheumatoid arthritis,RA)患者的发病特征和侧凸程度的影响因素。方法 :单中心纳入2013年1月～2018年4月61例合并RA拟行腰椎手术的患者,分为患有DLS者27例(DLS组)和无脊柱畸形患者34例(NDLS组)。提取信息包括人口统计学信息[如性别、年龄和体重指数(body mass index,BMI)等]、RA相关信息[如Steinbrocker分级、是否服用改变病情抗风湿药(disease-modifying anti-rheumatic drugs,DMARDs)等]、手术相关信息和DLS信息[如Cobb角、顶椎旋转角度、冠状位顶椎偏移距离、髂嵴连线高度、骨质疏松、全膝关节置换(total knee arthroplasty,TKA)史和膝关节功能评分(knee society score,KSS)],Steinbrocker分级用来评价RA活动性,Cobb角反映腰椎侧凸程度,KSS用以评价膝关节功能。结果:患者平均RA病程为16.8±12.7年,Steinbrocker分级Ⅰ～Ⅲ级分别为14例、34例和13例。两组患者以女性为主,DLS组(男∶女=1∶26)和NDLS组(男∶女=8∶26)在性别上存在统计学差异(P=0.031),而在年龄、BMI上无统计学差异(P0.05);两组在Steinbrocker分级、服用DMARDs比例和骨质疏松患者比例上无统计学差异(P0.05)。两组共11例实施TKA手术,两组间TKA分布比较无统计学差异(P=0.153)。DLS组平均侧凸程度(Cobb角)为18.4°±9.0°(10.4°～39.2°),实施TKA患者其Cobb角(11.8°±1.5°)小于无TKA者(20.6°±9.5°)(P=0.001)。DLS组顶椎旋转角度为8.4°±6.8°,冠状位偏移距离为47.3±7.8mm,髂嵴连线均位于L4/5椎间隙。Cobb角与顶椎旋转角度、冠状位偏移距离和TKA存在相关性(P0.05),与其余参数均无显著相关性。针对DLS患者侧凸程度回归分析,显示既往行TKA为其影响因素(P=0.029),但TKA发生时间、TKA患者DLS病程与侧凸程度无明确相关性。行TKA患者KSS评分(88.7±5.3分)高于未行TKA者(80.4±10.0分)(P=0.034),KSS和Cobb角之间存在负相关性(r=-0.717,P0.001),以Cobb为因变量的两者之间的拟合曲线为Cobb角=70.38-0.64×KSS。结论:合并RA的DLS患者在中老年女性更易出现;在既往行TKA的RA患者中,DLS侧凸程度较小;KSS与DLS侧凸程度存在高度相关性。     

Event-related potential changes due to early-onset Parkinson’s disease in parkin (PARK2) gene mutation carriers and non-carriers

ObjectiveTo investigate cognitive functions in non-demented patients with early-onset Parkinson's disease (PD), and to compare PARK2 gene mutation carriers and non-carriers by means of event-related brain potentials (ERPs).MethodsThe participants comprised patients with early-onset PD (EOPD) and healthy controls (HC). Patients with EOPD were divided into two groups as carriers of known pathogenic variants of PARK2 gene (EOPD-PC) and non-carriers of genes involved in familial PD (EOPD-NC). ERP data were collected during auditory oddball and visual continuous performance test (CPT).ResultsBoth EOPD groups (EOPD-PC and EOPD-NC) displayed reduced and delayed P3 in response to oddball target and CPT NoGo. CPT Go P3 was reduced in EOPD-NC but not in EOPD-PC. Oddball target N1 was reduced and P2 was enhanced in both EOPD-PC and EOPD-NC. In both cognitive tasks, RTs were prolonged and accuracy was lower in EOPD-PC and EOPD-NC.ConclusionsWe found several EOPD-related neurophysiologic changes, implying impairments in cognitive functions. Pairwise comparisons between EOPD-PC and EOPD-NC revealed no significant ERP marker.SignificanceIn this study, the confounding effect of normative aging was somewhat excluded compared with many previous studies. In contrast with the many oddball studies in non-demented PD, we clearly observed reduced and prolonged P3 in early-onset PD. Our NoGo P3 findings also contribute to the limited ERP research concerning response inhibition.     

A meta-analysis of gait in adolescent idiopathic scoliosis

This study aimed to compare the results of gait analysis of adolescent idiopathic scoliosis (AIS) patients and healthy subjects through a meta-analysis of the existing research. The Medline (via PubMed), Cochrane, Scopus, and Embase databases were searched for studies that evaluated the findings of AIS, including spatiotemporal parameters (walking speed, step length, cadence, and stance phase duration), segmental kinematics (frontal, sagittal, and transverse pelvic motion), and electromyographic variables (electrical activity of the quadratus lumborum, erector spinae, and gluteus medius), and were published between January 2000 and May 2020. Two authors extracted the data independently, and any discrepancies regarding the eligibility of retrieved studies were resolved by a consensus. Six comparative studies were identified and subsequently analyzed. It was found that the stance phase and frontal pelvic motion were significantly reduced in AIS patients compared with healthy controls. No significant difference was observed for speed, step length, cadence, sagittal pelvic motion, and transverse pelvic motion. The electrical activity durations of the quadratus lumborum, erector spinae, and gluteus medius were significantly increased in the AIS group compared with healthy subjects. Despite the heterogeneity, a limited number of meta-analyses showed reduced stance phase and frontal pelvic motion with prolonged activation timing of the quadratus lumborum, erector spinae, and gluteus medius muscles. Hence, further large-scale, multicenter studies are required to validate our results.