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The deconvolution of DNA mixtures has gathered the attention of forensic DNA scientists for over two decades. To enhance mixture deconvolution capabilities, a new generation of sensitive DNA-typing approaches has been recently proposed. In this review, we describe novel, forensically relevant multi-SNP loci (i.e., microhaplotypes or microhaps), compound markers (i.e., DIP-STRs, SNP-STRs and DIP-SNPs) and lineage markers (i.e., rapidly mutating Y chromosome STRs) that improve the deconvolution of two and more than two-person mixtures typed using conventional STR, binary and non-binary loci. We explore the features and applications of these emerging molecular biomarkers with respect to their ability to forensically detect same-or-opposite sex donors. Finally, we discuss the impact of initial massively parallel sequencing (MPS) investigations of STR, microhaplotype and SNP/indel assays for DNA mixture profiling.  相似文献   
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医疗数据集成平台的扩展功能和设计   总被引:2,自引:0,他引:2  
目的:实现医疗数据集成平台的功能扩展,结合业务流程实现医院业务的跨系统整合。方法:在为医院内部各信息系统之间提供高效数据交互的基础上,继续添加整合平台的更多功能模块。结果:新的功能模块使平台满足医院业务的多种需求.功能更加强大。结论:这些扩展功能的添加完善了平台项目整体的合理性和应用性。  相似文献   
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The Drug Interventions Programme is an initiative employed by the Home Office in 2003 to integrate the Criminal Justice System with drug treatment services with the ultimate goal of reducing acquisitive crime. Drug Action Teams employ this scheme on a local level by providing a broad range of services for misusers in the community. Although much attention has been placed on societal gains, there is an added benefit in improving the health outcomes of those referred.Opioid replacement therapy decreases illicit heroin use, reduces mortality and maintains contact with misusers allowing for psychosocial intervention. The Drug Interventions Programme provides direct access to such treatment in an otherwise high-risk and disengaged population. Anecdotal evidence of the programme is positive; with improved mental and physical health in offenders and a reduction in hospital admissions. However, monitoring health outcomes in offenders is challenging as long-term follow-up is difficult, poor compliance is an issue and coercive referrals may introduce a reporting bias.Drug Action Team services are cost-effective due a lower consumption of health and social care and reduced offending levels. The Drug Interventions Programme has been successful in maintaining offenders in treatment and the Home Office claim its role in reducing crime is cost-saving. Future delivery of the initiative is at risk due to spending reductions, competing interests and a focus towards payment by results. Opposition to future implementation of the Drug Interventions Programme must be met with evidence for its effectiveness in order to ensure its continued investment.  相似文献   
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We recently found that patients with drug-induced parkinsonism (DIP) may have normal (group I) or abnormal (group II) putamen [123I]FP-CIT DAT (dopamine transporter) binding. In this study we reassessed clinical features and DAT binding in 19 of the original 32 patients (10 of group I and 9 of group II) after a 19–39-month follow-up period and tested the effects of chronic levodopa treatment in both cohorts of patients. In group I patients, [123I]FP-CIT SPET (single photon emission tomography) was still normal in all patients at follow-up; DAT binding and UPDRS (Unified Parkinson’s Disease Rating Scale) motor score values did not differ from baseline. In group II patients, [123I]FP-CIT SPET was still abnormal at follow-up; putamen DAT binding was significantly reduced and UPDRS III score higher compared to baseline. Levodopa treatment improved motor symptoms in three out of ten patients of group I and in eight out of nine patients of group II. No adverse psychiatric effects were observed in any of the patients. This study shows that DAT binding imaging may help to identify subjects with DIP secondary to a loss of dopamine nerve terminals in the context of a progressive degenerative parkinsonism. Patients with DIP may benefit from levodopa therapy, particularly when dopamine nerve terminal defects are present, and this should be considered in the therapeutic management of these patients.  相似文献   
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Many evidences highlight that immunodeficiency and autoimmunity are two sides of a same coin. Primary immune deficiencies (PIDs), which are rare mono- or multigenic defects of innate or adaptative immunity, frequently associate with autoimmunity. Analyses of single-gene defects in immune pathways of families with PIDs, by new tools of molecular biology (next genome sequencing technologies), allowed a better understanding of the ways that could both drive immune defect with immune deficiency and autoimmunity. Moreover, genes implicated in rare single-gene defects are now known to be also involved in polygenic conventional autoimmune diseases. Here, we describe the main autoimmune symptoms occurring in PIDs and the underlying mechanisms that lead to autoimmunity in immunodeficiency. We review the links between autoimmunity and immunodeficiency and purpose some principles of care for patients with PIDs and autoimmunity.  相似文献   
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