Cornelia de Lange syndrome in a mother and daughter

The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors. We present a mother and child affected with Cornelia de Lange syndrome and raise the possibility of autosomal dominant inheritance.     

Interstitial deletion in the long arm of chromosome no. 5

A case of a male infant with several congenital anomalies combined with an interstitial deletion of the long arm of chromosome no. 5 is presented. The symptoms of the infant were compared to five previous reported cases with similar interstitial deletions in 5q.     

血糖感应型胰岛素给药智能载体的研究进展

胰岛素控制释放高分子载体系统一直是国内外科技工作者的研究热点 ,迄今已经研究报道了多种具有不同工作原理的血糖感应型胰岛素给药智能载体。本文基于国内外大量研究文献 ,综述了血糖感应型胰岛素控制释放智能化高分子载体的研究进展。     

Système de télésurveillance sonore pour la détection de situations de détresse

The telemedicine and medical remote monitoring in particular, today represents an effective solution to the health professional shortcomings facing to the increasing older population. In addition to the comfort of being at home, this system decreases the cost of long hospitalization. The proposed system achieves the home medical telesurveillance by means of microphones and medical sensors to detect a distress situation. This system is designed for elderly people at home or for the patient with chronic illness. The experimental apartment is equipped with medical sensors (tensiometer, oxymeter, balance, etc.), infrared position sensors, and acoustic sensors (1 microphone/room). The originality of the system comes from the replacement of the video surveillance with a sound surveillance. The sound analysis system is divided in two stages: firstly, the detection/extraction of the sounds is operated and secondly, a classification of these sounds in known classes takes place. A wavelet-based algorithm with good performance when applied in noisy environments is proposed. The acoustical classification step uses a Gaussian Mixture Models to classify the sounds according to the 7 predefined classes. The detection algorithm allows an equal error rate of 0% for the signal to noise ratio superior or equal to 10 dB and 4% for the 0 dB. The proposed system coupled with a classical medical telesurveillance system will bring extra information needed for the reliability of the global system.     

Role of HLA molecular mismatch in clinical practice

To date, traditional pre-transplant risk factors have failed to provide accurate risk stratification in transplantation. As a result, the practice of precision medicine remains elusive, resulting in a one-size-fits-all therapeutic approach for most patients. However, recent advancements in the understanding of HLA molecules at the molecular level have revitalized interest in HLA mismatch assessment. This review discusses HLA molecular mismatch as a potential prognostic and predictive biomarker available at the time of transplantation and answers some of the common questions and critiques of this approach. We highlight the retrospective data that supports single molecule risk categorization and explore the next steps required to evaluate its potential in clinical practice.     

Localized Sudeck's dystrophy and distal interphalangeal osteoarthritis of a finger: anatomicoradiologic study

After an injury to the right ring finger, a 44-year-old woman experienced pain in the distal interphalangeal joint. A subcutaneous mucoid cyst was noted near the joint. The x-ray films revealed no fracture but a narrowing of the joint space and a well-defined radiolucent area in the ulnar condyle of the middle phalanx. The biopsy specimen of this area excluded infection or tumor and revealed active osteogenic remodelling. These elements permitted a diagnosis of distal interphalangeal osteoarthritis that was associated with highly localized Sudeck's dystrophy (also called " parcellar algodystrophy"). This unusual case suggests the possibility that this dystrophy might be favored by an "osteoarthritic terrain" and might also play a role in the evolution of the osteoarthritis.     

基于膝关节 CT 及下肢全长 X 线片设计股骨远端截骨导板的临床应用研究

目的探讨基于膝关节 CT 及下肢全长 X 线片设计的股骨远端截骨导板在人工全膝关节置换术（total knee arthroplasty，TKA）中应用的可行性及准确性。方法以 2016 年 7 月—2017 年 2 月拟行初次 TKA 的 20 例膝关节重度骨关节炎患者作为研究对象。男 9 例，女 11 例；年龄 53～84 岁，平均 69.4 岁。体质量指数 22.1～31.0 kg/m²，平均 24.8 kg/m²。术前膝关节活动度（range of motion，ROM）为（103.0±19.4）°、疼痛视觉模拟评分（VAS）为（5.4±1.3）分、美国特种外科医院（HSS）评分为（58.1±11.3）分。术前基于下肢全长正侧位 X 线片及膝关节 CT 构建膝关节三维模型，设计并制作股骨远端截骨导板，模拟手术确定股骨远端截骨厚度。比较术前设计以及术中实际股骨远端内、外侧髁截骨厚度。记录术中失血量、术后引流量及计算隐性失血量；术后 3 个月行膝关节 ROM、VAS 评分、HSS 评分评估临床疗效；通过比较术前及术后 1 周的股骨外翻角（femoral mechanical-anatomical angle，FMAA）、股骨远端解剖外侧角（anatomical lateral distal femoral angle，aLDFA）、股骨机械轴与胫骨机械轴夹角（mechanical femoral tibial angle，mFTA）、股骨远端屈曲角（distal femoral flexion angle，DFFA）、股骨假体屈曲角（femoral prosthesis flexion angle，FPFA）、股骨假体外侧角（anatomical lateral femoral component angle，aLFC）、前翼与股骨前方皮质线夹角（α 角），评估股骨远端假体冠状面及矢状面位置。 结果于股骨远端截骨导板辅助下 TKA 均顺利完成；术前设计股骨远端内、外侧髁截骨厚度与术中实际截骨厚度差异均无统计学意义（P>0.05）。患者均获随访 3 个月。术后切口均Ⅰ期愈合，未出现关节周围感染、下肢深静脉血栓形成等并发症。除 1 例患者未行氨甲环酸治疗外，其余 19 例患者术中失血量为 30 ～150 mL，平均 73.2 mL；术后引流量为 20～500 mL，平均 154.5 mL；隐性失血量为 169.2～1 400.0 mL，平均 643.8 mL。术后 3 个月 ROM 为（111.5±11.5）°，与术前比较差异无统计学意义（t=–1.962，P=0.065）；VAS 评分为（2.4±0.9）分、HSS 评分为（88.2±7.5）分，与术前比较差异均有统计学意义（t=7.248，P=0.000；t=–11.442，P=0.000）。X 线片复查示术后 mFTA 与术前测量比较差异有统计学意义（P<0.05）；aLDFA、FMAA、DFFA 与术前测量比较差异无统计学意义（P>0.05）；FPFA、aLFC、α 角与术前规划比较差异均无统计学意义（P>0.05）。 结论基于膝关节 CT 及下肢全长 X 线片制备的股骨远端截骨导板辅助 TKA 能实现精确截骨，改善下肢冠状面和矢状面力线，减少手术失血量，早期疗效满意。     

不同类型干细胞在缺血性脑卒中治疗中的应用研究进展

目的总结不同类型干细胞移植治疗缺血性脑卒中的研究进展。方法通过检索 PubMed 数据库，总结 2000 年—2020 年不同类型干细胞治疗缺血性脑卒中的研究结果。结果干细胞可经脑实质立体定向移植、外周血、鼻腔、脑脊液等途径移植治疗缺血性脑卒中，主要通过旁分泌和细胞替代两种机制发挥治疗作用。目前对于缺血性脑卒中及其常见并发症的治疗研究主要集中在神经干细胞、胚胎干细胞及 MSCs，这 3 类干细胞各有优缺点，集中反映在干细胞迁移能力、存活率和安全性等方面。目前已有部分干细胞疗法完成了阶段性临床试验。结论干细胞移植治疗缺血性脑卒中可行且具有巨大临床价值，但在干细胞类型的选择、移植策略、迁移能力及存活率等方面，仍存在一些问题亟待解决。