Genetic analysis of embryo in a human case of spontaneous oocyte activation: a case report

Abstract

Parthenogenesis, a unique form of reproduction, is normally inhibited in mammals and a human embryo with parthenogenetic origin is not considered capable of producing offspring. The aim of this report is to analyze a parthenogenetic oocyte retrieved from a patient so as to have a better understanding on parthenogenesis and causes of infertility. A 38-year-old woman presented at our center with a history of primary infertility for 10?years and underwent an IVF-ICSI cycle. Three MII oocytes retrieved and one of which presented with 1 pronucleus before conducting ICSI and developed into an embryo 30?h post-retrieval. Blastomere biopsy, genome amplification, copy number variation (CNV) analysis and MultiSNPs analysis was performed on the embryo. The results showed that only one blastomere contains DNA and CNV analysis indicated a genotype of 48, XX, +17, +17 and the genetic contribution of biopsied embryo was of exclusively maternal origin. Such analysis might be beneficial for patients with a history of oocyte spontaneous activation in diagnosing case-specific aberrations and providing individualized therapeutic strategies such as preimplantation genetic diagnosis to choose a genetic normal embryo to transplant.     

建立下肢形态学数据库为匹配术后即装假肢提供参考

文题释义： 术后假肢：现代截肢康复的方法包括手术后安装临时假体，即在完成截肢手术后，医生为患者佩戴合适的临时假体。 大腿影像数据：研究采集的大腿数据包括膝上缘周径、膝上缘5 cm处周径、膝上缘10 cm处周径和膝上缘15 cm处周径，将大腿MRI数据导入3D重建软件，得到大腿截肢范围段表面积、体积。 大腿截肢范围段：为膝关节间隙上10-25 cm。 背景：目前假肢的制作是通过取型、修型、成型3个步骤完成的，由于修型过程是人工完成，与临床技师的经验技术密切相关，制作出来的假肢不美观，接受腔与残肢很难做到全接触。 目的：收集健康志愿者大腿MRI影像数据，评估成人大腿截肢范围段(膝关节间隙上10-25 cm)的对称性；将MRI影像数据建立成数据库，为下肢截肢患者匹配合适的术后即装假肢提供参考数据。 方法：招募40名健康志愿者，采集基本信息：年龄、身高、体质量、膝上缘周径、膝上缘5 cm处周径、膝上缘10 cm处周径和膝上缘15 cm处周径。所有志愿者对试验方案均知情同意，且得到医院伦理委员会批准。对大腿截肢范围进行三维重建，以模型的表面积、体积为参数，对每一例志愿者大腿进行解剖测量，利用三维逆向工程软件对测量结果进行3D偏差分析，完成大腿形态对称性的定量化和可视化分析。 结果与结论：①同体分析：同一个体左右大腿截肢范围段表面积之间的最大百分差异比不超过0.56%(P=0.109)；左右大腿截肢范围段体积之间最大百分差异比不超过1.19%(P=0.182)；三维偏差分析结果显示，最大平均负偏差为-1.47 mm，最大平均正偏差为1.14 mm。40例受试者的3D偏差分布78.02%在2 mm以内，20.97%在2.1-3.0 mm，仅1.01%大于3 mm。②异体分析：三维偏差分析结果显示，最大平均负偏差为-1.97 mm，而最大平均正偏差为1.89 mm。③提示成人双侧大腿截肢范围具有高度的解剖学对称性；当2名成人的膝上缘周径、膝上缘5 cm处周径、膝上缘10 cm周径和膝上缘15 cm处周径分别都相差在2 cm以内时，则认为这2名成人双侧大腿截肢范围段表面轮廓具有高度相似性，与性别、身高和体质量无关。 ORCID: 0000-0001-6838-3042(伍笑棋) 中国组织工程研究杂志出版内容重点：人工关节；骨植入物；脊柱；骨折；内固定；数字化骨科；组织工程     

Efficacy of comprehensive rehabilitation therapy for checkrein deformity: A case report

BACKGROUND In clinical practice, checkrein deformity is usually found in patients with calf injuries after ankle fracture or distal tibial fracture. The patients with checkrein deformity mainly report distending pain in toe tips, pain when walking or wearing shoes, and gait instability. Previous studies have mainly reported surgical treatments for checkrein deformity, while few studies have reported using comprehensive rehabilitation alone to improve the checkrein deformity.CASE SUMMARY A 28-year-old woman was admitted to the hospital due to unstable gait caused by pain in the right hallux, for which she was unable to stretch for over three months. The patient had undergone "resection of ameloblastoma at the right mandible, mandibulectomy, and autogenous right fibula grafting". The patient’s hallux toe, as well as the second and third toes of the right foot could not be stretched, with pain in all the toes during walking. Based on the medical records of the patient, as well as the results of physical and auxiliary examinations, the main diagnosis was checkrein deformity in the right foot. Since the patient refused surgical treatment, rehabilitation was the only treatment option. At discharge, the patient reported evident improvement in the pain in the toes, gait stability, as well as increased ability to climb up and downstairs.CONCLUSION Comprehensive rehabilitation therapy could effectively alleviate the manifestations of checkrein deformity and improve the walking ability of the patients.     

Statistical Considerations for Embedded Pragmatic Clinical Trials in People Living with Dementia

There is overwhelming need for nonpharmacological interventions to improve the health and well-being of people living with dementia (PLWD). The National Institute on Aging Imbedded Pragmatic Alzheimer's Disease (AD) and AD-Related Dementias Clinical Trials (IMPACT) Collaboratory supports clinical trials of such interventions embedded in healthcare systems. The embedded pragmatic clinical trial (ePCT) is ideally suited to testing the effectiveness of complex interventions in vulnerable populations at the point of care. These trials, however, are complex to conduct and interpret, and face challenges in efficiency (i.e., statistical power) and reproducibility. In addition, trials conducted among PLWD present specific statistical challenges, including difficulty in outcomes ascertainment from PLWD, necessitating reliance on reports by caregivers, and heterogeneity in measurements across different settings or populations. These and other challenges undercut the reliability of measurement, the feasibility of capturing outcomes using pragmatic designs, and the ability to validly estimate interventions' effectiveness in real-world settings. To address these challenges, the IMPACT Collaboratory has convened a Design and Statistics Core, the goals of which are: to support the design and conduct of ePCTs directed toward PLWD and their caregivers; to develop guidance for conducting embedded trials in this population; and to educate quantitative and clinical scientists in the design, conduct, and analysis of these trials. In this article, we discuss some of the contemporary methodological challenges in this area and develop a set of research priorities the Design and Statistics Core will undertake to meet these goals. J Am Geriatr Soc 68:S68–S73, 2020 .     

输入性疟疾90例临床特征分析

目的了解输入性疟疾的临床特点,抗疟疾药治疗效果,为临床诊治提供参考依据。方法对2008年1月至2018年6月笔者所在医院感染病科收住的90例非洲务工疟疾患者的临床表现、实验室检查、治疗方案进行回顾性分析。结果 90例患者均有发热现象,伴畏寒寒战84例,贫血30例,脾肿大24例。出现并发症57例,其中急性肝损害18例,急性血管内溶血15例,急性肾衰竭6例,脑型疟疾9例,肺病变9例。血小板减少有66例,其中严重减少18例,淋巴细胞减少60例,出现黄疸者共63例,以间接胆红素升高为主,ALT升高42例。血检疟原虫阳性率57例,其中间日疟15例,恶性疟18例,分型不详24例,根据情况选用不同抗疟药物治疗,所有病例最终均有效控制症状。结论输入性疟疾临床症状典型,有急性肝损害、急性血管内溶血、急性肾衰竭、脑型疟疾及肺病变等常见并发症。血检疟原虫阳性率较高。血小板减少较普遍且较严重,淋巴细胞比例严重减少者病情重。肾损害比例高。常用抗疟药物能有效控制症状。     

妇科急腹症中的超声临床诊断研究

目的:探讨妇科急腹症中的超声临床诊断研究。方法:纳入40例患者作为研究样本,40例患者均为2017年3月-2019年7月入院接受治疗的妇科急腹症患者,采用随机分组的方式,将40例患者分为两组,每组各20例患者,两组患者接受不同的诊断方式,对照组接受常规诊断,研究组接受超声诊断,对比两组患者诊断准确率。结果:观察并对比两组患者的数据,常规诊断以及超声诊断的临床准确率对比,研究组的准确率高于对照组,两组患者的组间数据对比,表明本次研究具有统计学意义(P<0.05)。结论:妇科急腹症中采用超声诊断,对急腹症类型的诊断效果较为准确,为患者后续的临床治疗提供诊断依据,证实了超声诊断对妇科急腹症在临床诊断上具有重要作用,应提倡将其纳入常规诊断之中。