Journals
2014 EN
Fernando Gielow · Gentian Jakllari · Michele Nogueira
+1 more
Wireless Sensor Networks (WSNs) have been used by several kinds of urban and nature monitoring applications as an important interface between physical and computational environments. Node clustering is a common technique to organize data traffic, reduce communication overhead and enable better network traffic management, improving scalability and energy efficiency. Although current clustering protocols treat various kinds of dynamicity in the network, such as mobility or cluster-head rotations, few solutions consider the readings similarity, which could provide benefits in terms of better use of compression techniques and reactive detection of anomalous events. For maintaining similarity aware clusters, the synchronization of the cluster’s average reading would allow a distributed and adaptive operation. In this article, we propose an architecture for dynamic and distributed data-aware clustering, and the Dynamic Data-aware Firefly-based Clustering (DDFC) protocol to handle spatial similarity between node readings. The DDFC operation takes into account the biological principles of fireflies to ensure distributed synchronization of the clusters’ similar readings aggregations. DDFC was compared to other protocols and the results demonstrated its capability of maintaining synchronized cluster readings aggregations, thereby enabling nodes to be dynamically clustered according to their readings
Journals
2014 EN
Mitchell Kimberly J. · Wells Melissa · Priebe Gisela
+1 more
This article provides 12‐month prevalence rates of youth exposure to websites which encourage self‐harm or suicide and examines whether such exposure is related to thoughts of self‐harm and thoughts of suicide in the past 30 days. Data were collected via telephone from a nationally representative survey of 1560 Internet‐using youth, ages 10–17 residing in the United States. One percent (95% CI: 0.5%, 1.5%) of youth reported visiting a website that encouraged self‐harm or suicide. Youth who visited such websites were seven times more likely to say they had thought about killing themselves; and 11 times more likely to think about hurting themselves, even after adjusting for several known risk factors for thoughts of self‐harm and thoughts of suicide. Given that youth thinking about self‐harm and suicide are more likely to visit these sites, they may represent an opportunity for identification of youth in need of crisis intervention.
Journals
2014 EN
Fabienne Curtaz · Silvia Stanchi · Michele D’Amico
+3 more
Journals
2014 EN
Gail P. Jarvik · Laura M. Amendola · Jonathan S. Berg
+123 more
As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research. CSER and eMERGE committees have identified areas of consensus regarding the return of genomic results to research participants. In most circumstances, if results meet an actionability threshold for return and the research participant has consented to return, genomic results, along with referral for appropriate clinical follow-up, should be offered to participants. However, participants have a right to decline the receipt of genomic results, even when doing so might be viewed as a threat to the participants' health. Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results. These positions are consistent with the recognition that clinical research is distinct from medical care in both its aims and its guiding moral principles.
Journals
2014 EN
Alexander Gusev · Sang Lee · Gosia Trynka
+314 more
Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common diseases to partition the heritability explained by genotyped SNPs (hg(2)) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of hg(2) from imputed SNPs (5.1× enrichment; p = 3.7 × 10(-17)) and 38% (SE = 4%) of hg(2) from genotyped SNPs (1.6× enrichment, p = 1.0 × 10(-4)). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained <10% of hg(2) despite having the highest enrichment. We replicated these findings but found no significant contribution from rare coding variants in independent schizophrenia cohorts genotyped on GWAS and exome chips. Our results highlight the value of analyzing components of heritability to unravel the functional architecture of common disease.
Journals
2014 EN
Jubao Duan · Jianxin Shi · Alessia Fiorentino
+52 more
Schizophrenia (SZ) genome-wide association studies (GWASs) have identified common risk variants in >100 susceptibility loci; however, the contribution of rare variants at these loci remains largely unexplored. One of the strongly associated loci spans MIR137 (miR137) and MIR2682 (miR2682), two microRNA genes important for neuronal function. We sequenced ∼6.9 kb MIR137/MIR2682 and upstream regulatory sequences in 2,610 SZ cases and 2,611 controls of European ancestry. We identified 133 rare variants with minor allele frequency (MAF) <0.5%. The rare variant burden in promoters and enhancers, but not insulators, was associated with SZ (p = 0.021 for MAF < 0.5%, p = 0.003 for MAF < 0.1%). A rare enhancer SNP, 1:g.98515539A>T, presented exclusively in 11 SZ cases (nominal p = 4.8 × 10(-4)). We further identified its risk allele T in 2 of 2,434 additional SZ cases, 11 of 4,339 bipolar (BP) cases, and 3 of 3,572 SZ/BP study controls and 1,688 population controls; yielding combined p values of 0.0007, 0.0013, and 0.0001 for SZ, BP, and SZ/BP, respectively. The risk allele T of 1:g.98515539A>T reduced enhancer activity of its flanking sequence by >50% in human neuroblastoma cells, predicting lower expression of MIR137/MIR2682. Both empirical and computational analyses showed weaker transcription factor (YY1) binding by the risk allele. Chromatin conformation capture (3C) assay further indicated that 1:g.98515539A>T influenced MIR137/MIR2682, but not the nearby DPYD or LOC729987. Our results suggest that rare noncoding risk variants are associated with SZ and BP at MIR137/MIR2682 locus, with risk alleles decreasing MIR137/MIR2682 expression.
Journals
2014 EN
Sucharita Boddu · Michele Lee · Marcela Marsiglia
+3 more
To investigate genetic, environmental, and systemic risk factors in prospectively identified subjects with the age-related macular degeneration (AMD) phenotypes of (1) reticular pseudodrusen without large soft drusen and (2) large soft drusen without reticular pseudodrusen.
Journals
2014 EN
David A. Plager · Michael Lynn · Edward G. Buckley
+75 more
To compare rates and severity of complications between infants undergoing cataract surgery with and without intraocular lens (IOL) implantation.
Journals
2014 EN
E. Eugenie Hartmann · Ann U. Stout · Michael Lynn
+82 more
To determine whether stereopsis of infants treated for monocular cataracts varies with the type of optical correction used.Randomized prospective clinical trial.The Infant Aphakia Treatment Study randomized 114 patients with unilateral cataracts at age 1-7 months to either primary intraocular lens (IOL) or contact lens correction. At 4.5 years of age a masked examiner assessed stereopsis on these patients using 3 different tests: (1) Frisby; (2) Randot Preschool; and (3) Titmus Fly.Twenty-eight patients (25%) had a positive response to at least 1 of the stereopsis tests. There was no statistically significant difference in stereopsis between the 2 treatment groups: Frisby (contact lens, 6 [11%]; IOL, 7 [13%]; P = .99), Randot (contact lens, 3 [6%]; IOL, 1 [2%]; P = .62), or Titmus (contact lens, 8 [15%]; IOL, 13 [23%]; P = .34). The median age at surgery for patients with stereopsis was younger than for those without stereopsis (1.2 vs 2.4 months; P = .002). The median visual acuity for patients with stereopsis was better than for those without stereopsis (20/40 vs 20/252; P = .0003).The type of optical correction did not influence stereopsis outcomes. However, 2 other factors did: age at surgery and visual acuity in the treated eye at age 4.5 years. Early surgery for unilateral congenital cataract and the presence of visual acuity better than or equal to 20/40 appear to be more important than the type of initial optical correction used for the development of stereopsis.
Journals
2014 EN
Randi H. Goldman · Maria Batsis · Michele R. Hacker
+2 more
We sought to determine whether the success of intrauterine insemination (IUI) varies based on the type of health care provider performing the procedure.