Point about DNA profiling: technologies, applications, and legislation]

Molecular biology progress in DNA fingerprinting has revolutionized forensic science. It's a reliable tool to identify an individual; it provides a true "genetic identity card". It's based of the concept that no two individuals can have an identical DNA pattern except identical twins. This article is a clarification on current technologies used in DNA profiling, their applications and its legislation, according a special place to the national databases (FNAEG), which is in great development for the moment.     

试验性法医DNA数据库的研究

目的 通过对大规模样本的DNA分型，探讨DNA数据库的建库指标；评估手动系统与自动系统DNA分型的兼容性；探讨DNA数据库计算机管理和需要立法解决的有关问题。方法 对1000份样本包括血液、血痕、唾液斑、精斑、混合斑，肌肉组织进行D3S1358、D9S1118、vWA、D5S818、D16539、D8S1179、CSF1PO、D20S161等8个STR基因座的DNA分型，构建8个STR基因座的人类等位基因分型标准物；PCR扩增8个STR基因座。样本PCR产物与等位基因分型标准物同步电泳，比较样本PCR产物的电泳谱带对应分型标准物所处的位置，确定样本基因型。采用Microsoft的Access编写DNA数据库计算机管理软件。结果 完成了对1000份样本D3S1358、D9S1118、vWA、D5S818、D16S539、D8S1179、CSF1PO、D20S161等8个STR基因座的DNA分型。构建了成都市试验性法医DNA数据库。结论 明确了法医DNA数据库建立的核心目的是为侦查提供犯罪嫌疑人的线索；所选择的8个STR基因座累积个人识别能力大于0.99999999,适合在成都群体中用于建立法医DNA数据库。用于DNA分型的手工电泳银染和自动激光荧光检测系统具有可重复性和兼容性，手工电泳银染更易向基层单位推广。设计的计算机管理软件允许现场生物检材DNA分型数据缺项检索；允许DNA数据库容量任意扩大，积累的经验提示法医DNA数据库建库应首先立法确定入库的对象和解决保护个人隐私问题。为建设适合中国国情的法医DNA数据库提供了一个参考模式。     

An assessment of scientific and technical aspects of closed investigations of canine forensics DNA--case series from the University of California, Davis, USA

Aim

To describe and assess the scientific and technical aspects of animal forensic testing at the University of California, Davis. The findings and recommendations contained in this report are designed to assess the past, evaluate the present, and recommend reforms that will assist the animal forensic science community in providing the best possible services that comply with court standards and bear judicial scrutiny.

Methods

A batch of 32 closed files of domestic dog DNA cases processed at the University of California, Davis, between August 2003 and July 2005 were reviewed in this study. The case files comprised copies of all original paperwork, copies of the cover letter or final report, laboratory notes, notes on analyses, submission forms, internal chains of custody, printed images and photocopies of evidence, as well as the administrative and technical reviews of those cases.

Results

While the fundamental aspects of animal DNA testing may be reliable and acceptable, the scientific basis for forensic testing animal DNA needs to be improved substantially. In addition to a lack of standardized and validated genetic testing protocols, improvements are needed in a wide range of topics including quality assurance and quality control measures, sample handling, evidence testing, statistical analysis, and reporting.

Conclusion

This review implies that although a standardized panel of short tandem repeat and mitochondrial DNA markers and publicly accessible genetic databases for canine forensic DNA analysis are already available, the persistent lack of supporting resources, including standardized quality assurance and quality control programs, still plagues the animal forensic community. This report focuses on closed cases from the period 2003-2005, but extends its scope more widely to include other animal DNA forensic testing services.There are an estimated 72 million domestic dogs (Canis familiaris) in the US (1) and many dog owners share their homes with their pets. Despite the proximity of canines to humans and human activities, canine DNA evidence remains a largely untapped forensic resource even as human DNA databases are expanded (2). Aside from investigations of dog attack cases to identify the biting dog(s), canine DNA evidence can also be used in criminal investigations to demonstrate proximate associations between human suspects and human victims (3). Therefore, it is imperative to demonstrate the validity of canine DNA analysis and thus ensure the integrity of this application for the criminal justice system.The high likelihood of finding mixtures of human and dog forensic samples in crime scenes, especially shed hairs (4), makes it extremely crucial to know the species of origin of the sample prior to assignment of samples to a particular individual by means of DNA analysis. The ability to detect (and quantify) target DNA in mixed-species samples and accurately determine the species from which the probative sample originated will help analysts minimize consumption of limited samples and efficiently optimize the genotyping tests.Current animal forensic DNA methods and resources are not as developed as in human forensics. Of chief concern is the lack of an accredited and comprehensive Quality Assurance System (5) for animal forensic DNA testing including:1. Quality assurance program for the systematic actions needed to demonstrate the service meets specified requirements of quality;2. Quality control (including day-to-day operational techniques and activities to fulfill requirements for quality, a quality manual that states the policy, quality system and practices of the laboratory, and tests to measure proficiency in both technical skills and knowledge of the analysts);3. Standard operating protocols or SOPs (for preservation and chain of custody of animal biological evidence, methods, materials, equipment and analytical procedures, and casework documentation, reporting and testimony) geared toward animal forensic laboratories.In the US, trial court system non-human DNA evidence is not accorded the same weight as human DNA evidence and is not frequently considered as admissible. Furthermore, DNA analysis of animal evidence is as expensive and time-consuming as human DNA identification, therefore animal forensic tests are typically reserved for cases in which other forms of identification have failed or are being disputed. The technical inability to obtain meaningful information about the source of canine hair or other biological samples without resorting to specialized laboratories has also contributed to why such evidence has not being utilized to its full potential in civil and criminal investigations (6). Moreover, expertise and interest in government forensic laboratories in using animal DNA, including analysis of canine biological evidence, is still lacking.Since 1996, DNA-based investigations involving a variety of domestic and wildlife species including cattle, horses, bears, and canines have been conducted at University of California (UC), Davis. Typical forensic cases UC Davis has been involved in can be categorized into three distinct types: 1) when the animal is the victim such as in dog abuse, theft, or killing of dogs, and dog fighting cases; 2) when the animal is a suspect, for example when a dog attacks or mauls humans or other animals; 3) when the animal is a passive witness to a crime, such as when dog hair is used to link a suspect or perpetrator to the crime scene or victim. Such cases can include arson, homicide, rape, burglary, etc (2,7,8).The importance of forensic analysis of animal DNA at UC Davis is reflected in the range of submitting agencies/clients that include attorneys (3 cases), law enforcement or other government agencies (11 cases), private individuals (7 cases), and human medical doctors or doctors of veterinary medicine (11 cases). Cases were submitted from 15 different states in the US – Oregon (2 cases), California (7 cases), Florida (1 case), Wisconsin (3 cases), North Carolina (1 case), Kentucky (1 case), New York (4 cases), Michigan (1 case), Virginia (3 cases), Maryland (1 case), Utah (1 case), Louisiana (1 case), Alabama (2 cases), Colorado (2 cases), and Alaska (1 case). An additional case from Bermuda further demonstrates the importance of animal forensics outside of the USA. These cases have not been reported elsewhere.To improve canine genetic testing in the US and to promote the use of canine forensic evidence in civil and criminal investigations, an affordable standardized and validated canine short tandem repeat (STR) loci reagent kit has been developed for commercialization and a publicly accessible canine STR database has been established in the US (3,6,9). To foster continued confidence among the law enforcement communities that animal forensic DNA methods are accurate, relevant, and reliable, and to further advance the quality of services provided by animal forensics laboratories, this study reviews the scientific and technical aspects of closed canine DNA cases from the UC Davis. In light of the DNA database and other published/reported findings (3,9), the review’s aim is to formulate further improvements to the animal forensic community’s ability to provide a work product and work flow that is scientifically objective and responsive to the needs of the criminal justice system.Similar reviews of human forensic DNA analysis have led to the refinement in quality assurance/quality control (QA/QC) programs and SOPs in accordance to the FBI’s DNA Advisory Board Quality Assurance Standards (5,10,11). For example, a 2005 report by an independent investigator of the Houston Police Department’s crime laboratory observed serious problems in 43 of 135 DNA cases (32%), 4 of which resulted in death penalty sentences (12). If problems exist in human DNA laboratories, it is reasonable to expect deviations from generally accepted forensic standards in animal forensic laboratories that can undermine the reliability of animal DNA evidence. As such, analysts who use animal DNA evidence should anticipate scientifically rigorous examination of their animal forensic applications before routine admission into the trial court system and also during post-trial reviews.     

Laboratory aspects of bioterrorism-related anthrax--from identification to molecular subtyping to microbial forensics

During the bioterrorism-associated anthrax investigation of 2001 in the United States, 11 patients were diagnosed with inhalational anthrax and 11 more with the cutaneous forms of the disease. Over 125,000 specimens were processed at laboratories of the Laboratory Response Network including those at the Centers for Disease Control and Prevention. Although the 2001 anthrax investigation initially began as a public health investigation, the forensic aspect quickly became a preeminent component of the investigation. Whereas a public health investigation aims primarily to identify the causative agent and its source, so that appropriate and timely control and preventative measures can be implemented, a forensic investigation goes further to associate the source of the causative agent with a specific individual or group. In addition to identification and molecular characterization of the causative agents, which are the crucial components of forensic microbiology, there are many other requirements and activities that need to be in place for investigators to successfully complete a forensic investigation. These activities include establishment of quality assurance/quality control criteria and regular proficiency testing for all laboratories where evidence is analyzed; additional and/or specialized training in handling and processing samples in accordance with forensic microbiology criteria, not only for first responders but also for laboratory and other public health scientists; and establishing and maintaining repositories and databases containing isolates of diverse temporal and geographic origins to provide a comparative and diverse background for investigators to identify and track the origin and source of such agents.     

Genetic parameters and allele frequencies of five new European Standard Set STR loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in the population of Romania

Aim

To establish allele frequencies and genetic parameters for 5 new European Standard Set short tandem repeat (STR) loci in the population of Romania and to compare them with those in other populations.

Methods

DNA was isolated using QIAamp 96 DNA Swab BioRobot Kit and Chelex 100 methods. Polymerase chain reaction amplification was done using Investigator ESSplexPlus Kit (D1S1656, D2S441, D2S1338, D3S1358, D8S1179, D10S1248, D12S391, D16S539, D18S51, D19S433, D21S11, D22S1045, FGA, TH01, and vWA). For DNA typing, Applied Biosystems 3500/3500xL Genetic Analyzer was used. Statistical analysis was done using Powerstats, GDA, and Arlequin software.

Results

Power of discrimination and polymorphism information content was highest for two new ESS loci, D1S1656 and D12S391. Comparison of allele frequencies for 5 new ESS loci in Romanian population with previously published population data showed significant differences for all compared populations, with the exception of Hungary. Geographically more distant populations, such as Spain, Sweden, United Kingdom, Germany, and Portugal differed more than closer populations.

Conclusion

New ESS STR loci are very useful for the analysis of forensic samples (persons or traces) due to their characteristics (shortness and high polymorphism). In comparisons with other common STR markers, they have a higher power of discrimination and also higher polymorphism information content, and could be used in any national DNA database.The establishment of standard sets (or common sets) of short tandem repeat (STR) markers which had first been a necessity for the forensic scientific community, as a result of globalization became a necessity for the worldwide law enforcement agencies. STR markers standard sets facilitate communication and judicial transmission of the forensic DNA typing results between different forensic groups or countries (1).Although several STR sets have been proposed (2), three of them are most frequently used: Interpol Standard Set of Loci – ISS (FGA, TH01, VWA, D3S1358, D8S1179, D18S51, D21S11), US Core Loci – CODIS (CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11), and European Standard Set of Loci – ESS (D3S1358, VWA, D8S1179, D21S11, D18S51, TH01, FGA, D1S1656, D2S441, D10S1248, D12S391, D22S1045).The five new European Standard Set STR loci studied in Romanian population are an upgrade of an earlier version of ESS consisiting of 7 STRs (3), adopted by the European Council in 2001. The DNA Working Group of the European Network of Forensic Science Institutes (ENFSI) reviewed the usefulness of the ESS in light of the increased exchange of DNA analysis results in 2009 and recommended the expansion with 5 new ones (4).Romania adopted the new 5 ESS loci and started to use them at the national level at the beginning of 2012 as part of the Investigator ESSplex Plus Kit, which replaced the AmpFlSTR Identifiler PCR Amplification Kit used before for Romanian National DNA Database supplying. As a consequence, and due to the lack of any study involving D10S1248, D22S1045, D2S441, D1S1656, and D12S391 loci in the Romanian population, allele distribution and genetic parameters of these loci have to be determined. The aim of this study was to establish allele frequencies and genetic parameters for 5 new ESS loci in population of Romania and to compare them with those in other populations .     

The mentally disordered criminal offender: a description based on demographic, clinical, and MMPI data

From 340 MMPIs of male forensic state hospital patients, seven disjoint clusters were obtained by an innovative cluster strategy that combined Ward's hierarchical clustering with a partitioning method. The cluster groups differed on racial composition and DSM-III Axis II diagnoses. The lack of differences among the cluster groups on other clinically relevant variables may be due to the choice of measures and the homogeneous nature of the sample. Two-point code frequencies are presented for these 340 profiles. Demographic variables available on 434 subjects suggested considerable similarities between this group and prison populations. The analysis further suggested that factors such as sociopathy, substance abuse, psychosis with paranoid features, and a history of criminal activities distinguish these offenders from the benign mentally ill.     

全基因组扩增技术最新进展及其法医学应用现状

微量模板DNA的检测,是很多领域迫切需要解决的一个难题。因为其DNA量不足,用现有的技术手段常无法检测成功。全基因组扩增技术可对非常微量的DNA进行均衡的扩增而获得大量的DNA,故被认为是目前解决这一难题的一种基本方法,已被广泛用于法医学、单细胞遗传病的诊断及疾病基因的分析等领域研究,并取得了良好的效果。本文对这一技术的最新研究进展及其在法医学方面的应用现状做一综述。     

Slovenian population data for five new European Standard Set Short tandem repeat loci and SE33 locus

Aim

To establish the allele distribution and statistical parameters of forensic interest for the D10S1248, D22S1045, D2S441, D1S1656, D12S391, and SE33 loci in Slovenian population and to compare allele frequencies with those from other populations.

Methods

We analyzed blood and buccal swab samples from 333 unrelated, healthy Slovenian individuals. All samples were genotyped using the AmpFlSTR NGM Kit to obtain the allele frequency data for the loci D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Samples from 113 individuals were also analyzed using the PowerPlex ESX 17 system to obtain the allele frequency data for the SE33 locus. Allele frequencies and statistical parameters of forensic interest were determined and frequency profiles compared between Slovenian and other European Caucasian populations using the Arlequin software, version 3.5.1.3.

Results

The investigated short tandem repeat (STR) loci in Slovenian population had a great discriminating potential with a combined discrimination power of 0.99999998. The highest discrimination power and polymorphism information content were observed for the SE33 locus, followed by loci D1S1656, D12S391, D10S1248, D2S441, and D22S1045. When Slovenian allele frequency distribution was compared with other European populations, deviations were found only for Spanish and Italian population for D2S441 and D12S391.

Conclusion

Slovenian population does not differ significantly from other European populations in terms of allele frequency distributions for the six analyzed STR loci. Based on forensic efficiency values, SE33 may be considered the most informative locus, which makes it especially useful in forensic investigations.In their recommendations for autosomal short tandem repeat (STR) DNA typing in forensic casework, the European Network of Forensic Institutes (ENFSI) and the European DNA Profiling (EDNAP) Group proposed the use of additional five STRs, three mini-STRs (D2S441, D10S1248, D22S1045), and two highly polymorphic STRs (D1S1656 and D12S391). The increased number of the European Standard Set (ESS) loci resulted in improved discrimination power, sensitivity, and reproducibility for the analysis of minute amounts of DNA (1,2). In the last few years, several commercial STR typing kits have been released, with five new ESS loci. The new kits have been shown to be robust enough to successfully genotype even degraded DNA from old bone material (3-5). These kits also include the AmpFlSTR NGM^TM PCR Amplification Kit (Applied Biosystems, Foster City, CA, USA) and the PowerPlex ESX 17 System (Promega, Madison, WI, USA), which we used for our population study. Allele frequencies for autosomal STRs (6,7), Y-chromosomal STRs (8), and mitochondrial DNA (9) were already determined for Slovenian population and the aim of this study was to apply new genetic markers in routine forensic casework to achieve higher evidential value of STR typing and to increase the number of short STR loci, which are better preserved in degraded samples. Some European population studies have already investigated the new ESS loci (D10S1248, D22S1045, D2S441, D1S1656, D12S391) and we compared Slovenian allele frequencies with them (10-17). Beside the analysis of 5 new ESS loci we also analyzed SE33 locus and compared allele frequencies with Austrian (15), Italian (16), German (18), and Spanish population (19).     

Specific quantification of human genomes from low copy number DNA samples in forensic and ancient DNA studies

We reviewed the current methodologies used for human DNA quantitation in forensic and ancient DNA studies, including sensitive hybridization methods based on the detection of nuclear alpha-satellite repetitive DNA regions or more recently developed fluorogenic real-time polymerase chain reaction (PCR) designs for the detection of both nuclear and mitochondrial DNA regions. Special emphasis has been put on the applicability of recently described different real-time PCR designs targeting different fragments of the HV1 mtDNA control region, and a segment of the X-Y homologous amelogenin gene. The importance of these quantitative assays is to ensure the consistency of low copy number DNA typing (STR profiling and mtDNA sequencing).     

Genetic variation at 5 new autosomal short tandem repeat markers (D10S1248, D22S1045, D2S441, D1S1656, D12S391) in a population-based sample from Maghreb region

Aim

To investigate allele distribution and genetic parameters of a population-based sample from Maghreb region.

Methods

Allele frequencies for 5 new autosomal short tandem repeat (STR) markers (D10S1248, D22S1045, D2S441, D1S1656, and D12S391) and several forensic parameters were determined for 95 unrelated individuals.

Results

The combined power of discrimination and power of exclusion for the 5 loci were high (0.9999991 and 0.9954757, respectively). Allele frequencies were compared with previously published population data. Significant differences were found between Maghreb population and all other populations at the locus D2S441. Also, significant differences were found between the Maghreb and the African American population at the D22S1045, D1S1656, and D12S391 loci, between Maghreb and Caucasian population at the D1S1656 locus, and between Maghreb and Hispanic population at the D22S1045 locus.

Conclusions

Typing of the 5 new STR loci may provide a useful addition to the previously established sets of autosomal STRs.Short tandem repeats (STR) are widely used for forensic testing. Ordinary paternity cases are solved by commercially available multiplexes kits, however, for more difficult cases, such as complex kinship analysis, additional STRs are needed to obtain better results. Besides, as many national DNA databases are growing and a large number of comparisons are being made within and between databases, concern for possible false-positive results may arise. This increases the need to introduce additional loci. The first European Standard Set (ESS) of loci included only 7 STRs loci, but the European Network of Forensic Science Institutes and the European DNA Profiling recommended to extend the ESS loci by adopting additional 3 miniSTRs loci (D10S1248, D22S1045, D2S441) and 2 additional polymorphic loci in 2006 (D1S1656, D12S391) (1,2).These new 5 loci improve the discriminatory power of forensic analysis and, by amplifying fragments well below current average amplicon sizes, can enhance genotyping success when analyzing highly degraded DNA (3,4).In order to verify and allow their use in forensics, the usefulness of ESS STR loci, it is necessary to obtain sufficient data from different populations.     

Clinical databases of patients receiving antidepressants. The missing link between research and practice?

BACKGROUND: In the last 10 years the use of antidepressants has increased drastically. Unfortunately, the epidemiology of these compounds has shown significant gaps between recommendations derived from randomised controlled trials and current clinical practice. METHODS: We argue for the need to develop and maintain clinical databases of patients receiving antidepressants as a way of bridging this situation. RESULTS: In addition to experimental data generated in selected patients and settings, observational databases of large cohorts of typical patients, followed in typical settings, should be developed and maintained. Clinical databases could collect information on patient social and demographic characteristics, clinical symptoms, diagnosis and pharmacological and non-pharmacological treatments. In addition, they can provide accurate estimates of probabilities of different outcomes and on factors that affect outcome. CONCLUSION: Clinical databases should not be seen as another expensive administrative task for busy doctors. Clinical databases should be developed, organised and utilised only by clinicians who are interested in monitoring their clinical practice and want to provide patients, relatives and the public with information on prognosis and outcome in their specific context of care. Maintaining clinical databases is a routine process, nested in everyday clinical activity, which aims at constituting a permanent link between research and practice.     

DNA counterion current and saturation examined by a MEMS-based solid state nanopore sensor

Reports of DNA translocation measurements have been increasing rapidly in recent years due to advancements in pore fabrication and these measurements continue to provide insight into the physics of DNA translocations through MEMS based solid state nanopores. Specifically, it has recently been demonstrated that in addition to typically observed current blockages, enhancements in current can also be measured under certain conditions. Here, we further demonstrate the power of these nanopores for examining single DNA molecules by measuring these ionic currents as a function of the applied electric field and show that the direction of the resulting current pulse can provide fundamental insight into the physics of condensed counterions and the dipole saturation in single DNA molecules. Expanding on earlier work by Manning and others, we propose a model of DNA counterion ionic current and saturation of this current based on our experimental results. The work can have broad impact in understanding DNA sensing, DNA delivery into cells, DNA conductivity, and molecular electronics. H. C. and B. M. V. contributed equally to the work.     

Y chromosome STR haplotypes and the genetic structure of U.S. populations of African,European, and Hispanic ancestry

To investigate geographic structure within U.S. ethnic populations, we analyzed 1705 haplotypes on the basis of 9 short tandem repeat (STR) loci on the Y-chromosome from 9-11 groups each of African-Americans, European-Americans, and Hispanics. There were no significant differences in the distribution of Y-STR haplotypes among African-American groups, whereas European-American and Hispanic groups did exhibit significant geographic heterogeneity. However, the significant heterogeneity resulted from one sample; removal of that sample in each case eliminated the significant heterogeneity. Multidimensional scaling analysis of R(ST) values indicated that African-American groups formed a distinct cluster, whereas there was some intermingling of European-American and Hispanic groups. MtDNA data exist for many of these same groups; estimates of the European-American genetic contribution to the African-American gene pool were 27.5%-33.6% for the Y-STR haplotypes and 9%-15.4% for the mtDNA types. The lack of significant geographic heterogeneity among Y-STR and mtDNA haplotypes in U.S ethnic groups means that forensic DNA databases do not need to be constructed for separate geographic regions of the U.S. Moreover, absence of significant geographic heterogeneity for these two loci means that regional variation in disease susceptibility within ethnic groups is more likely to reflect cultural/environmental factors, rather than any underlying genetic heterogeneity.     

DNA repair, mitochondria, and neurodegeneration

Accumulation of nuclear and mitochondrial DNA damage is thought to be particularly deleterious in post-mitotic cells, which cannot be replaced through cell division. Recent experimental evidence demonstrates the importance of DNA damage responses for neuronal survival. Here, we summarize current literature on DNA damage responses in the mammalian CNS in aging and neurodegeneration. Base excision repair (BER) is the main pathway for the removal of small DNA base modifications, such as alkylation, deamination and oxidation, which are generated as by-products of normal metabolism and accumulate with age in various experimental models. Using neuronal cell cultures, human brain tissue and animal models, we and others have shown an active BER pathway functioning in the brain, both in the mitochondrial and nuclear compartments. Mitochondrial DNA repair may play a more essential role in neuronal cells because these cells depend largely on intact mitochondrial function for energy metabolism. We have characterized several BER enzymes in mammalian mitochondria and have shown that BER activities change with age in mitochondria from different brain regions. Together, the results reviewed here advocate that mitochondrial DNA damage response plays an important role in aging and in the pathogenesis of neurodegenerative diseases.     

New guidelines and recommendations on the detection, evaluation, and treatment of patients with undesirable cholesterol levels

To help reduce the prevalence of elevated blood cholesterol levels in adult Americans, the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH) launched the National Cholesterol Education Program (NCEP) in 1985. The program aims to raise awareness and understanding about high blood cholesterol levels as a risk for coronary artery disease (CAD) and the benefits of lowering cholesterol levels as a means of preventing CAD. This national awareness program is aimed at three target groups: (1) health professions, (2) the public and patient, and (3) the community. This article summarizes the highlights of the NHLBI NCEP Laboratory Standardization Panel's (LSP) report and the Adult Treatment Panel's (ATP) report. The LSP report emphasized the need for accurate and precise cholesterol measurements and evaluated the current state of reliability of these measurements. It also described the degree to which accurate and precise cholesterol measurements are possible based on currently available instrumentation, reagents, and methods. The LSP report made a series of broad recommendations designed to improve laboratory performance that are discussed in this article. The ATP's report established criteria that define candidates with high blood cholesterol levels who should receive medical intervention and provided guidelines on how to detect, set goals, treat, and monitor these patients over time. For the first time in medical history there is a consensus by leading experts in the field on the measurement, detection, and treatment of patients with hypercholesterolemia. The detailed recommendations of the LSP and ATP should have a major impact on 40 million adults in the United States and may save approximately 300,000 lives annually.     

Recommendations for the design,implementation and evaluation of social support in online communities,networks, and groups

A new model of health care is emerging in which individuals can take charge of their health by connecting to online communities and social networks for personalized support and collective knowledge. Web 2.0 technologies expand the traditional notion of online support groups into a broad and evolving range of informational, emotional, as well as community-based concepts of support. In order to apply these technologies to patient-centered care, it is necessary to incorporate more inclusive conceptual frameworks of social support and community-based research methodologies. This paper introduces a conceptualization of online social support, reviews current challenges in online support research, and outlines six recommendations for the design, evaluation, and implementation of social support in online communities, networks, and groups. The six recommendations are illustrated by CanConnect, an online community for cancer survivors in middle Tennessee. These recommendations address the interdependencies between online and real-world support and emphasize an inclusive framework of interpersonal and community-based support. The applications of these six recommendations are illustrated through a discussion of online support for cancer survivors.     

Recommendations of the American Association of Physicists in Medicine on dosimetry, imaging, and quality assurance procedures for 90Y microsphere brachytherapy in the treatment of hepatic malignancies

Yttrium-90 microsphere brachytherapy of the liver exploits the distinctive features of the liver anatomy to treat liver malignancies with beta radiation and is gaining more wide spread clinical use. This report provides a general overview of microsphere liver brachytherapy and assists the treatment team in creating local treatment practices to provide safe and efficient patient treatment. Suggestions for future improvements are incorporated with the basic rationale for the therapy and currently used procedures. Imaging modalities utilized and their respective quality assurance are discussed. General as well as vendor specific delivery procedures are reviewed. The current dosimetry models are reviewed and suggestions for dosimetry advancement are made. Beta activity standards are reviewed and vendor implementation strategies are discussed. Radioactive material licensing and radiation safety are discussed given the unique requirements of microsphere brachytherapy. A general, team-based quality assurance program is reviewed to provide guidance for the creation of the local procedures. Finally, recommendations are given on how to deliver the current state of the art treatments and directions for future improvements in the therapy.     

Les empreintes génétiques : nouvel outil en médecine légale

DNA fingerprinting is a powerful technology that has revolutionized forensic science. No two individuals can have an identical DNA pattern except identical twins. This article is a clarification on current technologies used in DNA profiling, their applications and its legislation.     

DNA damage and repair during lymphoid development: antigen receptor diversity,genomic integrity and lymphomagenesis

Lymphocyte maturation requires generation of a large diversity of antigen receptors, which involves somatic rearrangements at the antigen receptor genes in a process termed V(D)J recombination. Upon encountering specific antigens, B-lymphocytes undergo rearrangements in the constant region of the immunoglobulin genes to optimize immune responses in a process called class switch recombination. Activated B-cells also undergo somatic hypermutation in the variable regions of the immunoglobulin genes to enhance their antigenic affinity. These somatic events are initiated by the infliction of DNA lesions within the antigen receptor genes that are strictly confined to a specific developmental window and cell-cycle stage. DNA lesions are then repaired by one of the general DNA repair mechanisms, such as non-homologous end-joining. Mutations in key factors of these pathways lead to the interruption of these processes and immunodeficiency, making it possible to study the mechanisms of cellular response to DNA lesions and their repair. This review briefly summarizes some of the recently developed animal models with focus on current advances in the understanding of the mechanism of DNA end-joining activities, and its role in the maintenance of genomic stability and the prevention of tumorigenesis.