A new method of STR interpretation using inferential logic -development of a criminal intelligence database

Abstract A short tandem repeat (STR) system consisting of seven multiplexed loci has recently been introduced in the UK to support a National strategy to create large DNA databases for criminal intelligence purposes. The process uses automated sequencers, employing dye-labelled primers. Identification of tetrameric loci such as HUMTH01 are straightforward. Sizing windows are estimated by running a series of control allelic ladders on several gels and unknown samples are designated if they fall within a defined window. However, utilisation of complex STRs (eg. D21 S 11) characteristically have common variants which differ by just 2 bp. In addition, rare alleles are encountered which may differ by just 1 by from a common variant. To assist with the identification of alleles, we have introduced a series of allelic ladders, so that direct comparisons with unknown samples can be made on the same gel. To designate an allele, it should be within 0.5 by of an allelic ladder marker. Not all alleles (in particular rare alleles) can be included within an allelic ladder, however their expected positions can be easily calculated by reference to existing alleles in the ladder. Measurement of band shift is also a useful diagnostic tool. A series of guidelines are described to enable reliable allelic identification. These guidelines can be converted into computer programmes, which form the basis of an expert system.     

Guidelines for autologous blood and marrow stem cell transplantation in multiple sclerosis: a consensus report written on behalf of the European Group for Blood and Marrow Transplantation and the European Charcot Foundation

Recent reports suggest the possible beneficial effects of haemopoietic stem cell transplantation (HSCT) in autoimmune diseases such as multiple sclerosis (MS). The definition of the risk/benefit ratio for such a treatment is perceived as a major issue for the neurological community worldwide. The First Consensus Conference on Bone Marrow Transplantation in Patients with Multiple Sclerosis was held in Milan, Italy on 21 February 1998. Participants from 16 European, North American, and South American countries discussed the guidelines form performing HSCT in MS. This conference was organized in order to : (a) define criteria for patient selection; (b) define transplantation procedures to maximize efficacy of the treatment and minimize its toxicity; (c) standardize patient outcome evaluation; and (d) establish an international working group to evaluate the efficacy and safety of HSCT in MS and to study the immunological changes related to HSCT in MS patients. During the meeting in Milan agreement was reached on: (a) the preparation and distribution of a consensus report on HSCT in MS and (b) the design of an open trial for an initial assessment of the safety and efficacy of HSCT in MS. The consensus reached during the meeting and the design of the clinical trial are summarized in this contribution. Received: 14 May 1999, Received in revised form: 4 January 2000, Accepted: 19 January 2000     

借鉴Delphi法对中医专家舌色诊断经验的拟合研究

目的对中医专家舌色诊断经验进行拟合研究。方法使用标准化舌象采集环境获取临床舌象,借鉴Delphi方法,邀请中医专家对舌色分类和舌色诊断进行4轮咨询,并借助舌色红绿蓝(RGB)分量的比较从侧面进行验证。结果通过4轮的专家咨询,最后将舌色分为淡白、淡红、红、绛、淡紫、紫、青紫和紫红8类;采集的1255幅舌图像中1072幅(87.0%)获得了一致的判别结果;不同舌色的RGB分量差异有显著性意义(P<0.05或P<0.01)。结论Delphi法是一种较好的拟合中医专家舌诊经验的方法。     

静脉注射用免疫球蛋白在儿童血液/肿瘤性疾病中应用的儿科专家共识

静脉注射用免疫球蛋白（IVIG）在恶性血液肿瘤化疗、靶向治疗及造血干细胞移植中的应用越来越普遍,但国内外尚无儿童血液/肿瘤性疾病中IVIG应用的临床指南或共识。该共识基于儿童血液/肿瘤性疾病中IVIG应用的国内外研究进展而制定,对IVIG在儿童血液/肿瘤性疾病中的临床应用策略及其不良反应的防治提出具体建议。     

女阴硬化性苔藓诊疗专家共识

女阴硬化性苔藓是一种反复发作的慢性炎症性疾病,几乎各年龄阶段均可发生,绝经期、围绝经期和青春期前女性更常见。典型损害为象牙白/瓷白色硬化萎缩斑,晚期可发生外阴、尿道、肛门结构畸变,造成性生活、排尿及排便困难。中国医疗保健国际交流促进会皮肤科分会组织多位专家在借鉴国内外临床研究和诊疗指南的基础上,补充了中国专家的经验和观...     

医院感染防控绩效评价体系构建研究

目的建立契合医院感染防控实际的绩效评价体系,用于科学评价医院感染防控工作。方法应用头脑风暴法、文献荟萃法等建立指标池,通过咨询专家组完成指标的筛选、层次构建、评价和权重计算。结果成功构建医院感染防控绩效评价体系,包含一级指标3个、二级指标17个、三级指标27个。咨询信度Cronbach's α系数为0.901,内容效度指数为 0.800～1.000。结论构建的医院感染防控绩效评价体系可对医院感染管理工作进行科学、客观地评价。     

新生儿脑电生理监测分级管理专家共识北大核心CSCD

美国临床神经生理学协会已经发表了新生儿脑电图监测指南,中国也发表了新生儿振幅整合脑电图(amplitude-integrated electroencephalogram,aEEG)专家共识。由于缺乏脑电监测设备和专业解读人员,不同级别的新生儿病房很难严格按照指南或共识进行脑电监测。中华医学会儿科学分会新生儿学组成立了由新生儿、儿童神经和神经电生理专业人员组成的专家组对已经发表的指南和专家共识及相关领域的文献进行审查,建立了适用于不同级别新生儿病房脑电监测的分层管理建议。基于视频脑电图和aEEG特点,根据当地医疗资源和患儿疾病特征,专家组认为视频脑电图和aEEG可以互相补充应用,适用于不同级别的新生儿病房。该共识对促进新生儿、儿童神经和神经电生理专业人员之间的合作和远程脑电监测实施提出了建议。     

The PaArticular Scales – A new outcome measure to quantify the impact of joint contractures on activities and participation in individuals in geriatric care: Development and Rasch analysis

BackgroundJoint contractures are frequent conditions in individuals in geriatric care settings and are associated with activity limitations and participation restrictions. As such, relevant intervention programs should address these aspects, and the effectiveness of such programs should be determined by assessing improvement in activities and participation. However, no patient-centred and psychometrically sound outcome measures for this purpose are available so far.ObjectivesThe objectives of this study were to develop and to validate a new outcome measure, the PaArticular Scales, to quantify activities and participation in older individuals with joint contractures. Specific aims were (A) to operationalize the content of an International Classification of Functioning, Disability and Health-based standard set towards meaningful questions and to combine them to a questionnaire and (B) to assess the psychometric properties of the developed questionnaire, in detail to evaluate test–retest reliability, objectivity, internal consistency reliability and criterion validity.DesignOperationalization was reached by an expert consensus conference and a subsequent expert Delphi survey. Psychometric properties were assessed in a cross-sectional study.SettingsNursing homes, geriatric rehabilitation facilities.Participants23 experts (nurses, physicians, physical and occupational therapists) participated in the consensus conference and the Delphi survey. A total of 191 individuals with joint contractures (as confirmed by physician, nurse or physical therapist) between 65 and 102 years, living in nursing homes or as patients in geriatric rehabilitation were enrolled in the cross-sectional study.MethodsRasch Partial Credit Modelling.ResultsThe consensus conference and Delphi survey resulted in a questionnaire with 86 items of the International Classification of Functioning, Disability and Health. Test–retest-reliability among those was acceptable (Cohen's weighted kappa: 0.779). The Rasch analysis revealed two independent interval-scaled scales with 24 items for the Activities scale and 11 items for the Participation scale with high internal consistency reliability. Cronbach's alpha was 0.96 for the Activities scale and 0.92 for the Participation scale. Criterion validity was −0.40 and −0.30 for the Activities scale and for the Participation scale, respectively.ConclusionsThe PaArticular Scales, a new patient-centred and psychometric sound outcome measures to comprehensively assess the impact of joint contractures in geriatric care, are available now. These developed scales will serve as primary outcomes in a scheduled evaluation of a complex intervention to improve participation and quality of life in nursing home residents with joint contractures.