A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy

Glycine encephalopathy with normal serum glycine (MIM #617301), also known as GLYT1 encephalopathy, is an extremely rare disorder caused by biallelic variants in SLC6A9 and characterised by facial dysmorphic features, skeletal findings including contractures, knee hyperextension, and joint dislocations and seizures. To date, only ten patients from five families have been reported and only two of them could survive until childhood. In this study, we report on a consanguineous Turkish couple with a history of six pregnancies with three habitual abortions and three postpartum exitus. While in three pregnancies the babies were born prematurely at 32nd gestational week by emergency ceserean section due to hydrops and fetal distress, the other pregnancy was medically terminated at 16th gestational week due to absent fetal heart activity. The product of all these three pregnancies exhibited similar phenotype including short neck, thoracic kyphosis, hypertrichosis, joint contractures and dislocations, hypertonia, knee hyperextension and facial dysmorphic features. Trio exome sequencing was performed prenatally during the last pregnancy and a novel VUS variant in SLC6A9 and a likely pathogenic variant in MTOR gene were detected. DNA isolation was performed from frozen muscle and adrenal tissue of previously autopsied fetuses with similar clinical features, and the same variants were confirmed in both of them. Our data suggest that SLC6A9 and MTOR variants may be responsible for this extremely lethal phenotype in this family.     

针灸联合关节松动术治疗肩周炎的网状Meta分析＊

目的 运用网状Meta分析方法评价针灸联合关节松动术治疗肩周炎的疗效。方法 运用计算机检索Web of Science、PubMed、Cochrane Library、EMbase、维普（VIP）、中国知网（CNKI）、万方（Wanfang）、中国生物医学文献数据库（CBM），搜寻有关针灸联合关节松动术治疗肩周炎的随机对照试验。所有研究人员均独立纳排文献、提录资料、风险评估，对符合质量标准的RCT研究采用Stata16.0和Review Manager 5.4软件进行分析。结果 共检索出6561篇文献，最终纳入37项研究，涉及10种针灸联合关节松动术方法。总样本量2890例，其中试验组1432例，对照组1458例。网状Meta分析所得结果表明：①在总有效率方面，最好的3种治疗方法为内热针联合组、温针联合组、动筋针联合组；②在降低VAS评分方面，最好的3种治疗方法为内热针联合组、动筋针联合组、针刀联合组。结论 针灸联合关节松动术治疗肩周炎疗效总体优于单独使用，且内热针联合组具有最佳的疗效。     

Effect of contralateral cane use on hip moment impulse in the frontal plane during the stance phase

BackgroundRecent reports have shown that the daily cumulative moment in the frontal plane (i.e., product of hip moment impulse in the frontal plane during the stance phase and mean steps per day) is a risk factor for hip osteoarthritis. This study aimed to clarify the effect of contralateral cane use on hip moment impulse in the frontal plane of the stance limb.MethodsThis study included 15 healthy subjects who walked under four experimental conditions: (1) without a cane and (2–4) contralateral cane use with 10%, 15%, and 20% body weight support (BWS), respectively. To maintain the same walking speed in all conditions, the cadence was set to 80 steps/min, and the step length was fixed. The hip moment impulses in the frontal plane (i.e., area under the hip ab-adduction moment waveform) and peak hip adduction moments in all conditions were calculated.ResultsContralateral cane use significantly decreased the hip moment impulse in the frontal plane and peak hip adduction moment compared to non-cane use. Moreover, the hip moment impulse in the frontal plane and peak hip adduction moment decreased significantly with increased cane BWS. There were no significant differences in walking speed, cadence, and step length between the four conditions.ConclusionContralateral cane use decreases the hip moment impulse in the frontal plane and peak hip adduction moment in the stance limb. These findings may help clarify how to delay the progression of hip osteoarthritis.     

发育性髋关节发育不良的早期筛查及保守治疗现状

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是小儿最常见的髋关节疾病。早期筛查是发育性髋关节发育不良诊治的重要环节,在日益成熟的筛查体系下,通过体格检查、超声检查及X线检查等方法可尽早明确诊断,为早期治疗提供条件。保守治疗适用于1.5岁以内的DDH患儿,包括佩戴髋关节外展支具和闭合复位。本文将围绕发育性髋关节发育不良的早期筛查和保守治疗的近期研究成果进行综述。     

基于文献计量学骶髂关节半脱位影像学诊断标准的探讨

目的:基于文献计量学方法,探讨分析骶髂关节半脱位的影像学诊断标准。方法:回顾2017年5月30日前有关骶髂关节半脱位的中文文献,对文献中骶髂关节半脱位的病因及影像学诊断标准进行归纳分析。结果:共纳入283篇符合要求的文献,167篇有影像学诊断标准,骨盆X线正位片和斜位片是最常用的诊断方法,骶髂关节间隙增宽或狭窄、双侧髂嵴不等高、骶髂关节密度增高或粗糙和骶髂关节间隙模糊是报道最多的几种影像学依据,文献中的骶髂关节间隙变化和髂嵴高度异常标准不统一。结论:骶髂关节半脱位的影像学诊断依据混乱,关节间隙和髂嵴高度差异等可能的依据也常见于强直性脊柱炎等疾病,以上标准仍存在一些问题。