便携式能量消耗测试仪SenseWear Armband估测职业女子足球运动员运动能量消耗的有效性

目的:检测便携式能量消耗测试仪SenseWear Armband(SWA)应用于职业足球运动员在不同强度奔跑时能量消耗测量的有效性。方法:9名职业女子足球运动员(19.3±1.3岁),至少空腹2小时,静坐10分钟后上跑步机先后以四种不同强度的速度(50%VO_(2max)、65%VO_(2max)、75%VO_(2max)、85%VO_(2max))跑步10分钟,每个强度完成以后受试者休息直至心率恢复到110次/分钟再开始下一个强度的测试。采用便携式心肺功能测试仪Cosmed K4b2记录受试者的气体交换情况,同时采用SWA记录受试者的能量消耗。结果:配对t检验结果显示,除了70%VO_(2max)(相对应的代谢当量为10 METs),在其它三个强度运动时,SWA和Cosmed K4b2的每分钟数据均具有显著性差异(P<0.001)。与Cosmed K4b2测量结果相比,在56%VO_(2max)时,SWA显著高估了热量消耗,而在79%VO_(2max)和87%VO_(2max)时,SWA显著低估了热量消耗。当运动强度以能量代谢当量表示时,测量误差值的绝对值在10 METs左右达到最小。SWA和CosmedK4b2在9~11 METs间的每分钟数据显著相关(P<0.05)并无显著差异性(P=0.365),而在小于9 METs或大于11 METs的运动强度区间时,SWA和Cosmed K4b2的每分钟数据显著相关并具显著差异性(P<0.001)。结论:SWA在10 METs代谢当量附近监测热量消耗最为准确,此强度也是职业女足比赛时的常见强度。因此,虽然SWA在检测低于9 METs和高于11 METs能量代谢当量强度的运动时的热量消耗误差渐增,但可有效地应用于女足运动员在比赛中的热量消耗测定。     

Accuracy and repeatability of two methods of gait analysis – GaitRite™ und Mobility Lab™ – in subjects with cerebellar ataxia

Instrumental gait analysis is increasingly recognized as a useful tool for the evaluation of movement disorders. The various assessment devices available to date have mostly been evaluated in healthy populations only. We aimed to explore whether reliability and validity seen in healthy subjects can also be assumed in subjects with cerebellar ataxic gait. Gait was recorded simultaneously with two devices – a sensor-embedded walkway and an inertial sensor based system – to explore test accuracy in two groups of subjects: one with mild to moderate cerebellar ataxia due to a subtype of autosomal-dominantly inherited neurodegenerative disorder (SCA14), the other were healthy subjects matched for age and height (CTR). Test precision was assessed by retest within session for each device. In conclusion, accuracy and repeatability of gait measurements were not compromised by ataxic gait disorder. The accuracy of spatial measures was speed-dependent and a direct comparison of stride length from both devices will be most reliably made at comfortable speed. Measures of stride variability had low agreement between methods in CTR and at retest in both groups. However, the marked increase of stride variability in ataxia outweighs the observed amount of imprecision.     

Does the Powers™ strap influence the lower limb biomechanics during running?

Previous research has reported a prevalence of running related injuries in 25.9% to 72% of all runners. A greater hip internal rotation and adduction during the stance phase in running has been associated with many running related injuries, such as patellofemoral pain. Researchers in the USA designed a treatment device ‘the Powers™ strap' to facilitate an external rotation of the femur and to thereby control abnormal hip and knee motion during leisure and sport activities. However, to date no literature exists to demonstrate whether the Powers™ strap is able to reduce hip internal rotation during running.22 healthy participants, 11 males and 11 females (age: 27.45 ± 4.43 years, height: 1.73 ± 0.06m, mass: 66.77 ± 9.24 kg) were asked to run on a 22 m track under two conditions: without and with the Powers™ strap. Three-dimensional motion analysis was conducted using ten Qualisys OQUS 7 cameras (Qualisys AB, Sweden) and force data was captured with three AMTI force plates (BP600900, Advanced Mechanical Technology, Inc.USA). Paired sample t-tests were performed at the 95% confidence interval on all lower limb kinematic and kinetic data.The Powers™ strap significantly reduced hip and knee internal rotation throughout the stance phase of running. These results showed that the Powers™ strap has the potential to influence hip motion during running related activities, in doing so this might be beneficial for patients with lower limb injuries. Future research should investigate the influence of the Powers™ strap in subjects who suffer from running related injuries, such as patellofemoral pain.     

Evaluation of the Precision ID Identity Panel for the Ion Torrent™ PGM™ sequencer

In cases where only a partial or incomplete STR profile is obtained from a sample, information contained in single nucleotide polymorphisms (SNPs) can prove informative for human identification. Thermo Fisher Scientific, which developed the high throughput Ion Torrent^™ PGM^™ sequencer, released the Precision ID Identity Panel, a multiplex SNP panel for human identity. We evaluated the reproducibility and sensitivity of this multiplex, which contains primers for the amplification of 90 autosomal SNPs and 34 Y-clade SNPs. The manufacturer’s protocol was tested using five commercially available pure native DNAs and six forensic type samples at a range of DNA input amounts (0.2–1.0 ng; n, 90). In addition to analyzing the data using the manufacturer’s software, HID SNP Genotyper (v4.3.1), we also used CLC Genomics Workbench (Qiagen). Although library yields and templating of ion sphere particles (ISPs) were low, downstream sequencing was still successful. Across all samples, only 1.5% of all possible quality control (QC) flags were raised by both the plugin QC filter and CLC; 85% of those flags were raised as the SNP had a major allele frequency outside the thresholds specified by the manufacturer. For the remaining SNPs, coverage of >1500 X and >780 X was obtained for autosomal and Y-clade SNPs respectively, and 100% congruence among genotype calls from both analysis programs was observed. Our results demonstrate that it is possible to obtain reliable and reproducible genotypes using the Precision ID Identity Panel, when using low quantities (≥0.2 ng) of either pure native DNA or forensic type DNA samples.     

Validation of the SenseWear Mini activity monitor in 5−12-year-old children

Objectives

This study aimed to validate SenseWear Mini software algorithm versions 2.2 (SW2.2) and 5.2 (SW5.2) for estimating energy expenditure (EE) in children.

Second-generation sequencing of forensic STRs using the Ion Torrent™ HID STR 10-plex and the Ion PGM™

Second-generation sequencing (SGS) using Roche/454 and Illumina platforms has proved capable of sequencing the majority of the key forensic genetic STR systems. Given that Roche has announced that the 454 platforms will no longer be supported from 2015, focus should now be shifted to competing SGS platforms, such as the MiSeq (Illumina) and the Ion Personal Genome Machine (Ion PGM™; Thermo Fisher). There are currently several challenges faced with amplicon-based SGS STR typing in forensic genetics, including current lengths of amplicons for CE-typing and lack of uniform data analysis between laboratories.Thermo Fisher has designed a human identification (HID) short tandem repeat (STR) 10-plex panel including amelogenin, CSF1PO, D16S539, D3S1358, D5S818, D7S820, D8S1179, TH01, TPOX and vWA, where the primers have been designed specifically for the purpose of SGS and the data analysis is supported by Ion Torrent™ software. Hence, the combination of the STR 10-plex and the Ion PGM™ represents the first fully integrated SGS STR typing solution from PCR to data analysis.In this study, four experiments were performed to evaluate the alpha-version of the STR 10-plex: (1) typing of control samples; (2) analysis of sensitivity; (3) typing of mixtures; and (4) typing of biological crime case samples. Full profiles and concordant results between replicate SGS runs and CE-typing were observed for all control samples. Full profiles were seen with DNA input down to 50 pg, with the exception of a single locus drop-out in one of the 100 pg dilutions. Mixtures were easily deconvoluted down to 20:1, although alleles from the minor contributor had to be identified manually as some signals were not called by the Ion Torrent™ software. Interestingly, full profiles were obtained for all biological samples from real crime and identification cases, in which only partial profiles were obtained with PCR-CE assays. In conclusion, the Ion Torrent™ HID STR 10-plex panel offers an all-in-one solution from amplification of STRs and amelogenin, and sequencing to data analysis.     

Next generation sequencing of SNPs using the HID-Ion AmpliSeq™ Identity Panel on the Ion Torrent PGM™ platform

The HID-Ion AmpliSeq™ Identity Panel (the HID Identity Panel) is designed to detect 124-plex single nucleotide polymorphisms (SNPs) with next generation sequencing (NGS) technology on the Ion Torrent PGM™ platform, including 90 individual identification SNPs (IISNPs) on autosomal chromosomes and 34 lineage informative SNPs (LISNPs) on Y chromosome. In this study, we evaluated performance for the HID Identity Panel to provide a reference for NGS-SNP application, focusing on locus strand balance, locus coverage balance, heterozygote balance, and background signals. Besides, several experiments were carried out to find out improvements and limitations of this panel, including studies of species specificity, repeatability and concordance, sensitivity, mixtures, case-type samples and degraded samples, population genetics and pedigrees following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. In addition, Southern and Northern Chinese Han were investigated to assess applicability of this panel. Results showed this panel led to cross-reactivity with primates to some extent but rarely with non-primate animals. Repeatable and concordant genotypes could be obtained in triplicate with one exception at rs7520386. Full profiles could be obtained from 100 pg input DNA, but the optimal input DNA would be 1 ng–200 pg with 21 initial PCR cycles. A sample with ≥20% minor contributor could be considered as a mixture by the number of homozygotes, and full profiles belonging to minor contributors could be detected between 9:1 and 1:9 mixtures with known reference profiles. Also, this assay could be used for case-type samples and degraded samples. For autosomal SNPs (A-SNPs), F_ST across all 90 loci was not significantly different between Southern and Northern Chinese Han or between male and female samples. All A-SNP loci were independent in Chinese Han population. Except for 18 loci with H_e <0.4, most of the A-SNPs in the HID Identity Panel presented high polymorphisms. Forensic parameters were calculated as >99.999% for combined discrimination power (CDP), 0.999999724 for combined power of exclusion (CPE), 1.390 × 10¹¹ for combined likelihood ratio (CLR) of trios, and 2.361 × 10⁶ for CLR of motherless duos. For Y-SNPs, a total of 8 haplotypes were observed with the value of 0.684 for haplotype diversity. As a whole, the HID Identity Panel is a well-performed, robust, reliable and high informative NGS-SNP assay and it can fully meet requirements for individual identification and paternity testing in forensic science.     

Laceration of the Common Femoral Artery Following Deployment of the StarClose™ Vascular Closure System

StarClose is a novel arterial closure device which achieves hemostasis, following arteriotomy, via a nitinol clip deployed on the outer arterial wall. Since its introduction to the market, several studies have shown StarClose to be both safe and effective, with few major complications encountered. We report a case of common femoral artery laceration following deployment of the StarClose vascular closure system. We conclude that the injury occurred secondary to intravascular misplacement of the nitinol clip.     

Determination of the variables affecting mixed MiniFiler™ DNA profiles

The interpretation of mixed DNA profiles presents additional challenges for the forensic scientist. There has been a broad based call for transparency in the process of interpretation of all evidence including mixed DNA profiles. This interpretation is greatly facilitated by a sound understanding of the variability in peak heights for the two peaks of a heterozygote, in the sizes of stutter peaks and in the variability in peak heights across loci.This study examines single source and mixed DNA profiles to assess this variability. The relative variability in peak height between the two peaks of a heterozygote and in the peak heights across loci becomes greater as the peaks themselves become smaller. This is consistent with findings from other multiplexes. This variability appears larger in the MiniFiler™ system at 30 cycles than, for example, in the Identifiler™ system at 28 cycles and this difference is largely explained by the two extra cycles of amplification.Stutter peaks appear no larger in the MiniFiler™ system at 30 cycles than in the Identifiler™ system at 28 cycles.     

Population genetic analyses of the AmpFlSTR® NGM™ in Brazil

Population data of 15 short tandem repeat loci of the AmpFlSTR? next generation multiplex (NGM)? were obtained from a sample of 835 individuals. The loci are the ten short tandem repeats (STRs) in the SGM Plus? Kit plus the EDNAP- and ENSFI-recommended STRs D10S1248, D22S1045, D2S441, D1S1656, and D12S391. Allele frequency and other forensically relevant statistics data were generated for the NGM loci into five current country macroregions of Brazil (North, Northeast, Central West, Southeast, and South). All the analyzed loci meet Hardy-Weinberg equilibrium expectations and no linkage disequilibrium in all pairs of loci. The observed and expected heterozygosity, power of discrimination, polymorphic information content, and the other population-genetic indices were calculated. The overall power of discrimination was greater than 0.99999999999999999996 and the combined power of exclusion was greater than 0.9999998 in all Brazilian populations. Comparative analysis between populations from different Brazilian macroregions as well as between Brazil and Caucasian, African Americans, and Hispanic US populations are presented.     

Accuracy of biopsy needle navigation using the Medarpa system—computed tomography reality superimposed on the site of intervention

The aim of this work was to determine the accuracy of a new navigational system, Medarpa, with a transparent display superimposing computed tomography (CT) reality on the site of intervention. Medarpa uses an optical and an electromagnetic tracking system which allows tracking of instruments, the radiologist and the transparent display. The display superimposes a CT view of a phantom chest on a phantom chest model, in real time. In group A, needle positioning was performed using the Medarpa system. Three targets (diameter 1.5 mm) located inside the phantom were punctured. In group B, the same targets were used to perform standard CT-guided puncturing using the single-slice technique. The same needles were used in both groups (15 G, 15 cm). A total of 42 punctures were performed in each group. Post puncture, CT scans were made to verify needle tip positions. The mean deviation from the needle tip to the targets was 6.65±1.61 mm for group A (range 3.54–9.51 mm) and 7.05±1.33 mm for group B (range 4.10–9.45 mm). No significant difference was found between group A and group B for any target (p>0.05). No significant difference was found between the targets of the same group (p>0.05). The accuracy in needle puncturing using the augmented reality system, Medarpa, matches the accuracy achieved by CT-guided puncturing technique.     

Performance of high school male athletes on the Functional Movement Screen™

Objectives(1) Describe the performance of the Functional Movement Screen™ (FMS™) by reporting the proportion of adolescents with a score of ≤14 and the frequency of asymmetries in a cross-sectional sample; (2) explore associations between FMS™ to age and body mass, and explore the construct validity of the FMS™ against common postural stability measures; (3) examine the inter-rater and test-retest reliability of the FMS™ in adolescents.DesignCross-sectional.SettingField-setting.Participants94 male high-school athletes.Main outcome measureThe FMS™, Y-Balance Test (YBT) and Balance Error Scoring System (BESS).ResultsThe median FMS™ composite score was 16 (9–21), 33% of participants scored below the suggested injury risk cutoff composite score of ≤14, and 62.8% had at least one asymmetry. No relationship was observed between the FMS™ to common static/dynamic balance tests. The inter-rater reliability of the FMS™ composite score suggested good reliability (ICC = 0.88, CI 95%:0.77, 0.94) and test-retest reliability for FMS™ composite scores was good with ICC = 0.83 (CI 95%:0.56, 0.95).ConclusionsFMS™ results should be interpreted cautiously with attention to the asymmetries identified during the screen, regardless of composite score. The lack of relationship between the FMS™ and other balance measures supports the notion that multiple screening tests should be used in order to provide a comprehensive picture of the adolescent athlete.     

SPERM HY-LITER™ for the identification of spermatozoa from sexual assault evidence

Accurate microscopic identification of human spermatozoa is important in sexual assault cases. We have compared the results of examinations with (1) a fluorescent microscopy method, SPERM HY-LITER™, and (2) Baecchi's method for identification of human spermatozoa. In 35 artificial, forensic type samples, spermatozoa were identified in 45.7% with SPERM HY-LITER™ in Copenhagen, in 54.3% in the laboratory of the manufacturer of SPERM HY-LITER™, and 40.0% of the samples with Baecchi's staining method. When differences occurred between the two methods, it was significantly more often that SPERM HY-LITER™ detected spermatozoa when Baecchi's method did not (t_s = 6.567, df = 1, P = 0.048). This trend was also seen in selected compromised or degraded samples and in selected adjudicative samples. The reactions with spermatozoa from dog, horse, pig and bull were negative with SPERM HY-LITER™, whereas Baecchi's method was non-selective. Data from forensic casework samples in Copenhagen from two years (2008 and 2009) are presented. The samples from 2008 were investigated using Baecchi's method, while those from 2009 were investigated using SPERM HY-LITER™. The frequencies of positive results were similar between the two methods for the two years (27.9% and 32.1% respectively). Analysis of acid phosphatase (ACP) activity for the positive results obtained for these two years does not support the use of a negative ACP result as a prescreen for microscopic analysis for spermatozoa.     

Pilot study for forensic evaluations of the Precision ID GlobalFiler™ NGS STR Panel v2 with the Ion S5™ system

With the continuous development of massively parallel sequencing (MPS), increasing numbers of laboratories have utilized this method for forensic genomic analyses. When sequencing common short tandem repeats (STRs), MPS does have many advantages over the length-based genotyping method that uses traditional capillary electrophoresis (CE) technology. The Precision ID GlobalFiler™ NGS STR Panel v2 was recently released to simultaneously target 31 autosomal STRs (20 expanded Combined DNA Index System (CODIS) core loci and 11 non-CODIS loci) and 4 gender determination loci (Amelogenin, DYS391, SRY and Y-indel (rs2032678)) with the Ion S5™ System. In the current study, we performed a preliminary validation for this novel MPS-STR panel that included the following analyses: repeatability, concordance, stutter and balance, sensitivity, case-type sample testing, stability, mixture and a population investigation. Complete and reliable profiles were obtained using 125 pg of positive control DNA. The commonly encountered types of case samples and artificial mixtures with ratios of 1:1, 1:3 and 3:1 were also fully genotyped. Additional allele sequence variations were detected in samples from 50 unrelated individuals, and subsequently, an increased power of discrimination and power of exclusion were achieved. However, the average depth of coverage (DoC) of the Penta D locus was detected to be dramatically lower than those of other loci, which caused an interlocus imbalance; this could be one of the reasons for the intralocus imbalance of this locus and the 0.18% inconsistent results in the concordance study. Although certain flaws were observed, the informative metrics, including the DoC, sequence coverage ratios (SCRs) and heterozygote balance (H_b), of the novel MPS multiplex in our study were sufficient for reliable sequencing results that were 99.61% in concordance with the capillary electrophoresis (CE) results. In general, the Precision ID GlobalFiler™ NGS STR Panel v2 was demonstrated to be sensitive, reliable and robust and could be a powerful tool for human identification and kinship analyses. Additionally, we look forward to its updated version.     

Allele frequencies and other forensic parameters of the HID-Ion AmpliSeq™ Identity Panel markers in Basques using the Ion Torrent PGM™ platform

The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74 × 10⁻³⁶ for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field.