Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.

OBJECTIVE: To evaluate the performance of a statewide full-population pilot study in Missouri on newborn blood spots for screening of lysosomal storage disorders (LSDs) using digital microfluidics. STUDY DESIGN: A full-population pilot study using a multiplexed fluorometric enzymatic assay to detect Pompe disease, Fabry disease, Gaucher disease, and mucopolysaccharidosis type I (MPS I) in the Missouri newborn population is ongoing. Provisional cutoff values were determined during a prepilot study. All newborn dried blood spots received at the Missouri State Public Health Laboratory for routine newborn screening were screened for the 4 LSDs during the pilot study. Newborns determined to be screen-positive were referred for confirmatory testing. RESULTS: The study commenced on January 11, 2013; during the first 6 months, 43,701 specimens were screened, and 27 newborns with a confirmed diagnosis of an LSD genotype (8 with Pompe disease, 1 with Gaucher disease, 15 with Fabry disease, and 3 with MPS I) were identified. These numbers correspond to detection rates of 1:5463 for Pompe disease, 1:43,701 for Gaucher disease, 1:2913 for Fabry disease, and 1:14,567 for MPS I. The positive predictive values were 47% for Pompe disease with 1 lost to follow-up, 10% for Gaucher disease, 58% for Fabry disease with 2 lost to follow-up, and 11% for MPS I with 4 pending. CONCLUSION: The first 6 months of the Missouri LSD pilot study provided the opportunity to validate the effectiveness of the digital microfluidic screening method, refine the cutoffs for detection of these LSDs, and test the entire system of infant referral, follow-up, confirmation, treatment, and screening program communication.

Multi-channel multi-radio using 802.11 based media access for sink nodes in wireless sensor networks.

The next generation surveillance and multimedia systems will become increasingly deployed as wireless sensor networks in order to monitor parks, public places and for business usage. The convergence of data and telecommunication over IP-based networks has paved the way for wireless networks. Functions are becoming more intertwined by the compelling force of innovation and technology. For example, many closed-circuit TV premises surveillance systems now rely on transmitting their images and data over IP networks instead of standalone video circuits. These systems will increase their reliability in the future on wireless networks and on IEEE 802.11 networks. However, due to limited non-overlapping channels, delay, and congestion there will be problems at sink nodes. In this paper we provide necessary conditions to verify the feasibility of round robin technique in these networks at the sink nodes by using a technique to regulate multi-radio multichannel assignment. We demonstrate through simulations that dynamic channel assignment scheme using multi-radio, and multichannel configuration at a single sink node can perform close to optimal on the average while multiple sink node assignment also performs well. The methods proposed in this paper can be a valuable tool for network designers in planning network deployment and for optimizing different performance objectives.

Computer literacy of nurses in a community hospital: where are we today?

BACKGROUND: As the use of electronic health records continues to grow, it is imperative that nurses gain competency and confidence with computers and computer software applications. METHODS: A descriptive study of licensed registered nurses at a community hospital was completed to measure self-perceived computer literacy. The Gassert/McDowell Computer Literacy Survey© was used. The Pearson correlation was used to assess for a relationship between year of birth and computer literacy scores. Kruskal-Wallis and Mann-Whitney tests were conducted to assess for a relationship between educational level and computer literacy scores. RESULTS: The nurses had little to no experience with nearly half of the items surveyed. A moderately positive correlation was seen between year of birth and computer literacy. The correlation between nurses' educational level and computer literacy was found to be statistically significant (p ≤ .05) CONCLUSION: Basic computer classes may be beneficial to nurses, with training focused on specific skills, such as bibliographic database searching, to improve evidence-based practice.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25­30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration. RESULTS: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results of true positive cases with 64 conditions, and 5,341 cutoff values. The average rate of submission of true positive cases between December 1, 2008, and December 1, 2010, was 5.1 cases/day. This cumulative evidence generated 91 high and 23 low cutoff target ranges. The overall proportion of cutoff values within the respective target range was 42% (2,269/5,341). CONCLUSION: An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.

Multi-channel distributed coordinated function over single radio in wireless sensor networks.

Multi-channel assignments are becoming the solution of choice to improve performance in single radio for wireless networks. Multi-channel allows wireless networks to assign different channels to different nodes in real-time transmission. In this paper, we propose a new approach, Multi-channel Distributed Coordinated Function (MC-DCF) which takes advantage of multi-channel assignment. The backoff algorithm of the IEEE 802.11 distributed coordination function (DCF) was modified to invoke channel switching, based on threshold criteria in order to improve the overall throughput for wireless sensor networks (WSNs) over 802.11 networks. We presented simulation experiments in order to investigate the characteristics of multi-channel communication in wireless sensor networks using an NS2 platform. Nodes only use a single radio and perform channel switching only after specified threshold is reached. Single radio can only work on one channel at any given time. All nodes initiate constant bit rate streams towards the receiving nodes. In this work, we studied the impact of non-overlapping channels in the 2.4 frequency band on: constant bit rate (CBR) streams, node density, source nodes sending data directly to sink and signal strength by varying distances between the sensor nodes and operating frequencies of the radios with different data rates. We showed that multi-channel enhancement using our proposed algorithm provides significant improvement in terms of throughput, packet delivery ratio and delay. This technique can be considered for WSNs future use in 802.11 networks especially when the IEEE 802.11n becomes popular thereby may prevent the 802.15.4 network from operating effectively in the 2.4 GHz frequency band.