Internode Distance-Based Redundancy Reliable Transport in Underwater Sensor Networks

Underwater communication is a very challenging topic. Protocols used in terrestrial sensor networks cannot be directly applied in the underwater world. High-bit error rate and large propagation delay make the design of transport protocols especially awkward. ARQ-based reliable transport schemes are not appropriate in underwater environments due to large propagation delay, low communication bandwidth, and high error probability. Thus, we focus on redundancy-based transport schemes in this paper. We first investigate three schemes that employ redundancy mechanisms at the bit and/or packet level to increase the reliability in a direct link scenario. Then, we show that the broadcast property of the underwater channel allows us to extend those schemes to a case with node cooperative communication. Based on our analysis, an adaptive redundancy transport protocol (ARRTP) for underwater sensor networks is proposed. We suggest an architecture for implementation. For two kinds of topologies, namely, regular and random, we show that ARRTP presents a better transmission success probability and energy efficiency tradeoff for single- and multihop transmissions. We also offer an integrated case study to show that ARRTP is not only supplying reliability but also has some positive effect in guiding the deployment of underwater sensor nodes

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on 460 individuals from 440 families. Despite previous negative genetic assessment and molecular investigations, pathogenic variants in moderate- and high-risk CPGs were detected in 67/440 (15.2%) probands. WGS detected variants that would not be (or were not) detected by targeted resequencing strategies, including low-frequency structural variants (6/440 [1.4%] probands). In most individuals with a germline variant assessed as pathogenic or likely pathogenic (P/LP), at least one of their tumor types was characteristic of variants in the relevant CPG. However, in 29 probands (42.2% of those with a P/LP variant), the tumor phenotype appeared discordant. The frequency of individuals with truncating or splice-site CPG variants and at least one discordant tumor type was significantly higher than in a control population (χ2 = 43.642; p ≤ 0.0001). 2/67 (3%) probands with P/LP variants had evidence of multiple inherited neoplasia allele syndrome (MINAS) with deleterious variants in two CPGs. Together with variant detection rates from a previous series of similarly ascertained MPT-affected individuals, the present results suggest that first-line comprehensive CPG analysis in an MPT cohort referred to clinical genetics services would detect a deleterious variant in about a third of individuals.JW is supported by a Cancer Research UK Cambridge Cancer Centre Clinical Research Training Fellowship. Funding for the NIHR BioResource – Rare diseases project was provided by the National Institute for Health Research (NIHR, grant number RG65966). ERM acknowledges support from the European Research Council (Advanced Researcher Award), NIHR (Senior Investigator Award and Cambridge NIHR Biomedical Research Centre), Cancer Research UK Cambridge Cancer Centre and Medical Research Council Infrastructure Award. The University of Cambridge has received salary support in respect of EM from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health. DGE is an NIHR Senior Investigator and is supported by the all Manchester NIHR Biomedical Research Centre

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting 0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus, elevated serum bile acids and abnormal serum liver tests. ICP is associated with an increased risk of adverse outcomes, including spontaneous preterm birth and stillbirth. Whilst rare mutations affecting hepatobiliary transporters contribute to the aetiology of ICP, the role of common genetic variation in ICP has not been systematically characterised to date. Here, we perform genome-wide association studies (GWAS) and meta-analyses for ICP across three studies including 1138 cases and 153,642 controls. Eleven loci achieve genome-wide significance and have been further investigated and fine-mapped using functional genomics approaches. Our results pinpoint common sequence variation in liver-enriched genes and liver-specific cis-regulatory elements as contributing mechanisms to ICP susceptibility

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Dynamic channel allocation for mobile cellular systems using a control theoretical approach

The guard channel scheme in wireless mobile networks has attracted and is still drawing research interest owing to easy implementation and flexible control. Dynamic guard channel schemes have already been proposed in the literature to adapt to varying traffic load. This paper presents a novel control-theoretic approach to dynamically reserve guard channels called PI-Guard Channel (PI-GC) controller that maintains the handoff blocking probability (HBP) to a predefined value; while it still improves the channel resource utilization

Performance Equivalent Analysis Of Workflow Systems Based On Stochastic Petri Net Models

Performance analysis is one of the most important aspects in workflow management system. In this paper, we propose the stochastic Petri nets workflow model (WF-SPN), which is the extension of WF-net. Based on our model, we give four performance equivalent formulae for four basic routing pattern of workflow system. Then, we put forward an approximate performance analysis method on the base of our performance equivalent formulae. An example illustrates our method can solve real-world problems efficiently

Dynamic channel allocation for mobile cellular systems using a control theoretical approach

The guard channel scheme in wireless mobile networks has attracted and is still drawing research interest owing to easy implementation and flexible control. However guard channel schemes can not adapt to changing traffic loads because of static reserved guard channels. Therefore dynamic guard channel schemes have been proposed in the literature to adapt to varying traffic load. This paper presents a novel control-theoretic approach to dynamically reserve guard channels called PI-guard channel (PI-GC) controller. Experiments show that our proposed scheme can maintain the handoff blocking probability (HBP) to a predefined value while it still improves the channel resource utilizatio

Analysis of backward congestion notification with delay for enhanced Ethernet networks

Abstract—Recently, companies and standards organizations are enhancing Ethernet as the unified switch fabric for all of the TCP/IP traffic, the storage traffic and the interprocess communication(IPC) traffic in Data Center Networks(DCNs). Backward Congestion Notification(BCN) is the basic mechanism for the end-to-end congestion management enhancement. To fulfill the special requirements of the unified switch fabric that being lossless and of extremely low latency, BCN should hold the queue length around a target point tightly. Thus, the stability of the control loop and the buffer size are critical to BCN. Currently, the impacts of delay on the performance of BCN are unidentified. When the link capacity increases to 40Gbps or 100Gbps in the near future, the number of on-the-fly packets becomes the same order with the shallow buffer size of switches. Thus, the impacts of delay on the performance of BCN will become significant. In this paper, we analyze BCN, paying special attention on the delay. Firstly, we model the BCN system with a set of segmented delayed differential equations. Then, the sufficient condition for the uniformly asymptotic stability of the BCN system is deduced. Subsequently, the bound of buffer occupancy under this sufficient condition are estimated, which provides guidelines on setting buffer size. Finally, the numerical analysis and the experiments on the NetFPGA platform verify the theoretical analysis