Observations on two members of the Swedish family with congenital dyserythropoietic anaemia,type III

Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi- and multinucleate erythroblasts contained one or more nuclei which were unlabelled with ³H-thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N-glycosylation of some red cell membrane constituents.     

医疗数据交换规格MML(Medical Markup Language)3.0汉化版的制作

MML(Medical Markup Language)是一套不同医疗设施间的数据交换规格。于1995年在日本被开发。MML从版本2.21开始使用XML(eXtensible Markup Language)作为标记语言。而最新版本3.0又遵循HL7Clincal Document Architecture(CDA),包含14模块和36个数据定义表格。目前在中国,还没有一个使用XML来结构整个病历内容的规格。鉴于MML的柔韧性,我们制作了一个基于3.0版本的汉化版。日本与中国虽然诊疗流程、病历记录的内容等都很相似,但是也有一些,比如民族的表现、中医诊断分类,医师资格分类等都是日本不存在的或者分类不同的信息。另外,因为国情不同,医疗保险制度也完全不同。为了使MML能在中国的医院适用,我们追加和更改了12个数据定义表格,并重新制作了医疗保险信息模块。MML汉化版不止是一个对原规格的翻译和说明,它还考虑了本地的需要。因此,使用MML汉化版在中国的医疗设施间进行医疗数据交换已经成为可能。     

颈椎连续三节段 Hybrid 手术与融合术的生物力学研究

目的 比较颈椎连续三节段Hybrid手术[颈前路减压植骨融合(anterior cervical discectomy and fusion, ACDF)+人工颈椎间盘置换(cervical disc arthroplasty, CDA)]与三节段ACDF对颈椎生物力学的影响。方法 基于CT数据建立C1～T1颈胸椎有限元模型,通过植入Prestige LP和Zero-P假体模拟3种模型,包括两种Hybrid模型(AFA:C3～4、C5～6节段植入Prestige LP,C4～5节段植入Zero-P;FAF:C3～4、C5～6节段植入Zero-P,C4～5节段植入Prestige LP)和三节段ACDF模型(FFF)。比较各模型前屈、后伸、侧弯以及轴向旋转时相邻节段及整体活动范围(range of motion, ROM)以及相邻节段椎间盘内压力(intradiscal pressure, IDP)及小关节接触力(facet contact force, FCF)的变化。结果 AFA模型相邻节段及整体ROM都更接近完整模型,FAF、FFF模型相邻节段ROM最大增幅分别为15.0%和23....     

基于XML技术的电子病历管理平台研究与实现

介绍电子病历的内涵与发展历程,阐述基于XML技术电子病历管理平台构建的意义、功能及实现方案,从基于XML的电子病历建模,支持HL7、DICOM和XML集成医疗网关,基于SOA、多标准兼容集成网关的系统架构几方面介绍平台的具体实现技术。     

Pregnancy outcome in congenital dyserythropoietic anemia type I

Objectives: Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited disease characterized by moderate to severe macrocytic anemia and abnormal erythroid precursors with nuclear chromatin bridges and spongy heterochromatin. Moderate to severe maternal anemia is a recognized independent risk factor for low birth weight (LBW) and complicated delivery. The aim of the study was to review the outcome of pregnancies in women with CDA I. Methods: The clinical and laboratory records of 28 spontaneous pregnancies in six Bedouin women with CDA I were reviewed. The results were compared with findings from a retrospective review of a large population‐based registry including all pregnancies in Bedouin women during the same 15‐yr period. Results: Eighteen pregnancies in women with CDA I (64%) were complicated. One pregnancy was aborted spontaneously in the first trimester and one resulted in a non‐viable fetus (stillborn at 26 wk). Cesarean section (CS) was performed in 10 pregnancies (36%). Eleven of the 26 newborns (42%) had a LBW: six were born prematurely and five were small for gestational age. The odds ratio for CS in women with CDA I compared with healthy Bedouin women was 4.5 [95% confidence interval (CI) 1.2–10.3], and for a LBW infant, 5.5 (95% CI 2.4–12.3). Careful follow‐up was associated with significantly better fetal outcome (P = 0.05). Conclusions: Pregnancies in women with CDA I are at high risk for delivery‐related and outcome complications. To improve fetal outcome, women with CDA I should be carefully monitored during pregnancy.     

医疗术语编码方案与可交换信息结构绑定方法探讨

探讨医疗术语编码方案与可交换信息结构绑定的一种方法。通过将卫生部颁布的基本医疗数据集（BDS）中的相关数据元与HL7 v3 CDA R2体系结构相结合，实现用一种特定的方式捕获、显示临床医疗数据，以标准化、无歧义的数据格式处理临床描述。     

Heavy metal levels in patients with ineffective erythropoiesis

Objectives

Iron is taken into enterocytes at the duodenum via apical divalent metal-ion transporter 1 protein. Besides iron, divalent metal-ion transporter 1 also transports other divalent metals. We aimed to investigate blood heavy metal levels in patients with ineffective erythropoiesis.

阿糖胞苷代谢关键酶活性与儿童恶性血液肿瘤临床疗效的关系研究

目的通过检测急性白血病（acute leukemia,AL）及非霍奇金淋巴瘤（aggressive non-Hodgkin’s lymphoma,NHL）患儿骨髓单个核细胞内阿糖胞苷（Ara-c）,代谢关键酶——脱氧胞苷激酶（deoxycyfidine kinasekinase,DCK）胞苷脱氨酶（cytidine deaminase,CDA）活性,探索阿糖胞苷代谢关键酶活性与儿童恶性肿瘤临床疗效的关系。方法采用同位素3H—Cytidine做为放射底物检测32例患儿（ALL19例,AML9例,晚期NHL4例）骨髓单个细胞内DCK、CDA酶活性,统计分析各组患儿的检测结果。结果初发患儿DCK酶活性明显高于复发患儿（P〈0．05）。初发患儿CDA酶活性明显低于复发患儿（p〈0．05）。初发患儿cDA／DCK明显低于复发患儿（P〈0．05）。初发患儿ALL、AML、NHL中DCK酶活性来见显著差异（P〉0．05）。酶的活性与患儿年龄、性别未发现相关性（P〉0．05）。结论DCK活性增高,有利于Ara-C转化为具有活性的Ara-CTP。CDA活性增高,将促进Ara-C迅速降解,影响疗效。所以,初发与复发患儿DCK、cDA酶活性的显著差异（DCK活性降低和CDA活性增强）,很可能是导致肿瘤复发的原因。因此,骨髓单个核细胞内DCK、CDA酶活性表达强弱与Ara—C的疗效密切相关。     

Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia,type III

Abstract: A family with congenital dyserythropoietic anaemia type III was studied. Twenty patients and 10 of their healthy siblings were clinically examined and questioned about their medical history. Blood sampling and bone marrow aspirations were also performed. Forty-five percent of the patients reported symptoms of anaemia and 35% regularly felt weakness, fatigue, or headache. However, the majority of the patients regarded themselves as healthy. The bone marrow showed a uniform picture of erythroid hyperplasia with multinuclear erythroblasts and gigantoblasts with up to 12 nuclei. There was laboratory evidence of intravascular haemolysis and mild anaemia. We also observed a high prevalence of monoclonal gammopathy of undetermined significance (3 cases) and myeloma (1 case) among the patients.     

Structural characterisation, stability and antibody recognition of chimeric NHBA-GNA1030: an investigational vaccine component against Neisseria meningitidis

A new generation multi-component vaccine, principally directed against serogroup B Neisseria meningitidis (4CMenB), has recently been developed. One of its components, identified through reverse vaccinology, is the neisserial heparin-binding antigen (NHBA) which is included in the formulation as a novel NHBA-GNA1030 fusion protein (NHBA-FP). We describe here the biophysical characteristics of this vaccine antigen to understand better its structural properties in solution and concurrent immunogenicity prior to formulation. By deliberately stressing the protein to lose its immune responses, we were able to study the protein's structural changes at the molecular level. The unmodified NHBA-FP was found to be mainly monomeric with mass of 67kDa and secondary structure dominated by β-sheets and turns (57% average). The antigen was very stable in storage buffer. It could be forced to unfold in a low-salt buffer resulting in the exposure of one of its two tryptophan residues at 50°C. Long-term stress studies (10-15 days at 37°C) showed modification in the chromatographic and electrophoretic profiles with progressive degradation and aggregation. Since there was little change in secondary structure (as monitored by circular dichroism and tryptophan fluorescence spectroscopy), the loss of functional immunogenicity of the thermal stressed protein could be mainly attributed to the observed fragmentation and aggregation. We therefore conclude that the maintenance of the intact, non-fragmented state of the NHBA-FP is important to preserve its functional immunogenicity. This may thus be utilised as an assay for the control testing of the protein.