Accuracy of KinectOne to quantify kinematics of the upper body

Motion analysis systems deliver quantitative information, e.g. on the progress of rehabilitation programs aimed at improving range of motion. Markerless systems are of interest for clinical application because they are low-cost and easy to use. The first generation of the Kinect™ sensor showed promising results in validity assessment compared to an established marker-based system. However, no literature is available on the validity of the new ‘Kinect™ for Xbox one’ (KinectOne) in tracking upper body motion. Consequently, this study was conducted to analyze the accuracy and reliability of the KinectOne in tracking upper body motion.Twenty subjects performed shoulder abduction in frontal and scapula plane, flexion, external rotation and horizontal flexion in two conditions (sitting and standing). Arm and trunk motion were analyzed using the KinectOne and compared to a marker-based system. Comparisons were made using Bland Altman statistics and Coefficient of Multiple Correlation.On average, differences between systems of 3.9 ± 4.0° and 0.1 ± 3.8° were found for arm and trunk motion, respectively. Correlation was higher for the arm than for the trunk motion.Based on the observed bias, the accuracy of the KinectOne was found to be adequate to measure arm motion in a clinical setting. Although trunk motion showed a very low absolute bias between the two systems, the KinectOne was not able to track small changes over time. Before the KinectOne can find clinical application, further research is required analyzing whether validity can be improved using a customized tracking algorithm or other sensor placement, and to analyze test–retest reliability.     

Ion Torrent ™ Genexus ™ Integrated Sequencer and ForeNGS Analysis Software—An automatic NGS-STR workflow from DNA to profile for forensic science

The Ion Torrent ™ Genexus ™ Sequencer (Genexus) is a highly integrated instrument that can automate library construction, templating, and sequencing in a single-instrument run. By programing the ForeNGS Analysis Software (FNAS), we bridged the gap between sequencing and genotyping without manual intervention. FNAS can automatically transfer sequencing output files from Genexus, analyze the repeat and flanking regions aligned to the GRCh38 assembly, name the alleles according to the ISFG guidelines, and generate user-friendly interactive profiles. Genexus and FNAS can accomplish the fully automatic DNA-to-Profile workflow in forensics. Based on our experiences, the optimal assay parameters on Genexus were validated as follows: 24 cycles of target amplification for library construction; 40 μL of library and 400 bp of template size for templating; 852 flows of dNTPs by order of Ion samba HID2 for sequencing; and 750,000 reads per sample at minimum for 16 samples multiplexed on a lane. By developmental validations of the Precision ID Globalfiler ™ NGS STR Panel v2, Genexus presented competitive performance at the optimal assay parameters qualified to detect commonly used forensic STR markers. It could produce repeatable and reproducible results, and human profiles could be easily separated from nonhuman profiles. Additionally, Genexus was sensitive enough to detect samples with 100 pg of input DNA, and it was suitable for various types of case samples, especially for low copy number samples and degraded samples. Moreover, minor contributors could be detected between the 4:1 and 1:4 mixtures with an analysis threshold of 50 × . The Genexus workflow is a robust and labor-effective solution enabling forensic scientists to obtain NGS-STR profiles within a single day and with only the need to prepare DNA extracts, then set up Genexus, and finally interpret profiles on FNAS.     

Head-to-head comparison of the diagnostic accuracies of BD Veritor™ System RSV and Quidel® Sofia® RSV FIA systems for respiratory syncytial virus (RSV) diagnosis

BackgroundRespiratory syncytial virus (RSV) is one of the most common causes of severe lower respiratory tract disease among infants and young children. BD Veritor™ System RSV (BD) and Quidel^® Sofia^® RSV FIA (QD) are the new generation lateral flow digital immunoassay (DIA) tests with an instrumented read for the qualitative detection of RSV viral antigens.ObjectiveTo compare the diagnostic accuracies of BD and QD for RSV detection using fresh nasopharyngeal aspirates and nasopharyngeal swab specimens collected in universal transport media during 2013–2014 respiratory season.Study designThe two DIA tests were performed simultaneously on randomly selected specimens on a weekly basis during the RSV season until 200 fresh remnant specimens were enrolled. Real-time RT-PCR assay results were used to compare and evaluate the performance of both RSV DIA assays.ResultsAmong 200 specimens tested, RSV real-time RT-PCR assay detected RSV in 104 samples, while QD detected 84 samples and BD detected 74 samples as positive. The overall sensitivity for detection of RSV in comparison to PCR was 71.15% (61.3–79.4) for BD and 80.77% (71.6–87.6) for QD system (P = 0.36). The specificity was 100% (95.2–100) for both systems. The work flow analysis revealed that the overall specimen processing time was significantly lower for BD as compared with the QD assay.ConclusionsIn comparison with the real-time PCR, the QD system showed a higher sensitivity than that of the BD system, but the difference did not reach statistical significance (P = 0.36). Both BD and QD systems were found comparable in terms of specificity.     

Characterization of microRNA expression profiles in blood and saliva using the Ion Personal Genome Machine® System (Ion PGM™ System)

MicroRNA (miRNA) expression profiling is gaining interest in the forensic community because the intrinsically short fragment and tissue-specific expression pattern enable miRNAs as a useful biomarker for body fluid identification. Measuring the quantity of miRNAs in forensically relevant body fluids is an important step to screen specific miRNAs for body fluid identification. The recent introduction of massively parallel sequencing (MPS) has the potential for screening miRNA biomarkers at the genome-wide level, which allows both the detection of expression pattern and miRNA sequences. In this study, we employed the Ion Personal Genome Machine^® System (Ion PGM™ System, Thermo Fisher) to characterize the distribution and expression of 2588 human mature miRNAs (miRBase v21) in 5 blood samples and 5 saliva samples. An average of 1,885,000 and 1,356,000 sequence reads were generated in blood and saliva respectively. Based on miRDong, a Perl-based tool developed for semi-automated miRNA distribution designations, and manually ascertained, 6 and 19 miRNAs were identified respectively as potentially blood and saliva-specific biomarkers. Herein, this study describes a complete and reliable miRNA workflow solution based on Ion PGM™ System, starting from efficient RNA extraction, followed by small RNA library construction and sequencing. With this workflow solution and miRDong analysis it will be possible to measure miRNA expression pattern at the genome-wide level in other forensically relevant body fluids.     

Teaching caregivers to implement an augmentative and alternative communication intervention to an adult with ASD

Many researchers have investigated the effectiveness of augmentative and alternative communication (AAC) systems on improving communication skills of children with autism spectrum disorder (ASD) and communication complex needs (CCN); however, few studies included adults with ASD. Also, there is a lack of research on primary caregiver implemented interventions with high treatment fidelity although primary caregiver-implemented interventions have been used effectively with adults with ASD and their families. This study investigated the accuracy of primary caregivers’ implementation of a tablet-computer based AAC system while they were providing instruction to an adult with ASD. Also, independent use of AAC system of the participant was examined. We implemented a multiple probe design across three instructional coaching steps to examine the accuracy of the caregivers’ AAC implementation. One adult with autism and CCN and his four primary caregivers participated in this study, twice a week for seven weeks. Both visual and statistical analyses were utilized. Results indicated that, with instructional coaching, all of the caregivers were able to implement the procedures of the AAC mode with the participant accurately, as demonstrated via visual inspection and statistical analyses. Nevertheless, there was little improvement in the participant's independent use of the AAC mode. Limitations and suggestions for future researchers are discussed.     

Associated factors and hemodynamic characteristics of resistant hypertension in the elderly

The purpose of this study was to explore the associated factors and hemodynamic characteristics of resistant hypertension (RHTN) in the elderly. A total of 283 patients aged ≥60 years with hypertension were evaluated by the CNAP™ monitor. Among them, 240 patients were non-RHTN (controlled hypertension with use of three or fewer antihypertensive medications) and 43 patients were RHTN (uncontrolled hypertension despite the concurrent use of ≥3 antihypertensive drugs at optimized doses, including a diuretic, or achieving target blood pressure with the use of ≥4 antihypertensive medications). RHTN was associated with higher body mass index (BMI), longer hypertension duration, and coronary heart disease (p = .004, p < .001, and p = .042, respectively). The mean number of antihypertensive medications was greater in patients with RHTN (p < .001). Hemodynamic analysis revealed higher cardiac output in the RHTN group than in the non-RHTN group, while no difference was observed in systemic vascular resistance. Screening for secondary etiology showed that, among the 43 patients with RHTN, 8 (18.6%) had chronic kidney disease, 8 (18.6%) had obstructive sleep apnea, 4 (9.3%) had primary aldosteronism, 2 (4.7%) had renovascular disease. No significant differences were observed in the cardiac output and systemic vascular resistance values between different causes of RHTN. These findings suggest that higher body mass index, longer hypertension duration, and coronary heart disease emerged as the associated factors of RHTN in the elderly. RHTN is characterized by higher cardiac output. Screening for the possible secondary etiology of RHTN in the elderly patients is necessary and important.     

Developmental validation of the Huaxia™ Platinum PCR amplification kit: A 6-dye multiplex direct amplification assay designed for Chinese reference samples

The Huaxia™ Platinum Kit for short tandem repeat (STR) amplification was designed to meet the needs of the rapidly growing Chinese forensic database. This PCR multiplex allows simultaneous amplification of the following autosomal loci: D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, Penta E, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D6S1043, D10S1248, D1S1656, D12S391, D2S1338, Penta D and the gender-identification markers Yindel, and AMEL.The Huaxia™ Platinum Kit enables direct amplification from blood and buccal samples stored on treated and untreated paper, and features an optimized PCR protocol that yields time to results in less than 45 min. Developmental validation testing followed SWGDAM guidelines and demonstrated that this assay produces reproducible and accurate results. Studies on 798 individuals in 4 major Chinese ethnic groups produced highly concordant results with other commercially available STR genotyping kits. The validation results demonstrate that the Huaxia™ Platinum Kit is a robust and reliable identification system for forensic DNA databasing applications.     

Improved pairwise kinship analysis using massively parallel sequencing

In the present study, 67 individuals from two families were analyzed to explore the efficacy of the ForenSeq^™ DNA Signature Prep Kit for pairwise kinship analysis. Six types of pairwise relationships including 81 parent-offspring, 60 full siblings, 48 grandparent-grandchildren, 147 uncle/aunt-nephew/nieces, 97 first cousins and 190 non-relatives were generated from these two families and the corresponding likelihood ratio (LR) was calculated using either sequence-based or length-based STR genotype data (i.e., LR_sequence and LR_length). In addition, 10,000 pairs of different relationships were simulated to estimate the system powers of the STRs and SNPs in this panel. The results showed that 54, 9 and 5 additional alleles were observed based on sequence for 27 autosomal STRs, 24 Y-STRs and 7 X-STRs, respectively, compared to those based on length information and 11 novel alleles were identified. Five mutations were found for 58 STRs in 81 parent-offspring but no mutations were observed for SNPs. For 27 autosomal STR loci, the LRs were increased from 9.20, 7.87, 2.01, 2.07, 0.42 for log₁₀LR_length to 11.52, 10.12, 2.61, 2.60, 0.52 for log₁₀LR_sequence for paternity index (PI), full siblings index (FSI), grandparent-grandchild index (GI), uncle/aunt-nephew/niece index (UNI) and first cousins index (FCI), respectively. PI values for 94 SNPs separated more than those of 27 STRs if two individuals were non parent-offspring relatives. For the simulation study, the effectiveness was 1 for the parent-offspring relationship at the thresholds of t₁ = − 4 and t₂ = 4 and was 0.9998 for full siblings (t₁ = − 2, t₂ = 2). With an error rate of 0.42%, 93.02% of second degree relatives could be identified at the thresholds of t₁ = − 1 and t₂ = 1. However, the effectiveness was only 0.4300 for first cousins with a relatively high error rate of 2.68% (t₁ = − 1, t₂ = 1). In conclusion, STR typing according to the sequence information is more polymorphic, which increases the discrimination power for kinship testing. Compared to these 27 STR markers, 94 SNP markers in this panel have advantages in paternity testing especially when mutated STRs are involved or when a relative is an alleged parent. This panel is powerful enough to resolve paternity and full sibling testing. Most of the second degree relationships could be identified with low error rate while more markers are still needed for first cousins testing.     

Final Canadian Report of a Clinical Trial Evaluating the Safety and Efficacy of a New,Low-Dose Oral Contraceptive,Alesse™

The efficacy and safety of a new, low-dose, 21-day combination oral contraceptive containing 100 μg of levonorgestrel and 20 μg of ethinyl estradiol were evaluated in an open-label, multicentre trial. A total of 254 Canadian subjects were enrolled and received 4,564 cycles of exposure over the three-year course of the study. Of these, 137 completed 18 cycles of treatment. During the total 4,482 evaluable cycles of treatment, one pregnancy occurred, for a Pearl Index of 0.29 (82 cycles were excluded from this calculation due to protocol violations, including use of a second form of contraception or missing three or more consecutive pills in a cycle). Over the course of the study, 129 subjects withdrew for any reason, including 43 (17%) due to adverse events. The cumulative failure rate by life table analysis was 0.0048 per woman entering the 14th cycle. Breakthrough bleeding alone occurred in 3.9 percent of the cycles and breakthrough bleeding and spotting occurred together in 9.6 percent of the cycles. Of evaluable cycles, 1.3 percent were amenorrhoeic. The most commonly reported adverse events in this trial considered to be at least possibly due to the test drug were headache (36%) and metrorrhagia (36%). This formulation provides contraceptive efficacy similar to higher-dose oral contraceptives, while maintaining a safety and common OC side-effect profile that is consistent with prior years of reported use with kvonmgestrel-containing products.