bluuebunny/crossref_metadata_2025_split huggingface dataset:
‘Rew’ (Immémorial #6): what is surfacing and submerging
Authors: Weber Pascale 
Published: December 2012

Immémorial is a work in progress which was begun in 1996, written, conceived and created by Pascale Weber and which deals with memory and identity. Its six versions question the interactions between technology, science and creation. 'Rew' is the title of the sixth version. As
an abbreviation of 'Rewind', it raises the spectre of travelling back in the past, of accessing our childhood secrets, of revisiting, maybe rewriting our identity. Immémorial #6: 'Rew' was shown in Marseille (Friche de la Belle de Mai) during the 2012 Music Festival, following a two-year
residency at the Experimental Music Group of Marseille [GMEM], Euphonia and the Music and Informatics Laboratory of Marseille [MIM].
The background and the lastest version of Immémorial allow us to investigate the relationship between technology, science and humanities. Science and
the computer offer an emotional, aesthetical energy, a capacity to nourish poetry and imagination; the artist may intuitively propose free hypotheses, confronting his artistic project with scientific questioning, instead of giving meaning to his work. Doing so, he collaborates in the development
of knowledge.
Immémorial proposes a taxonomy of models of recollections which form our identity and deals with the dynamic functioning of our memory. Conversely, the structure of the computer language used for distributing the video image and sound spatialization guide the construction
of the narrative and the return of the memorial experience in the device. Owing to the technical process of audio and visual spatialization, Immémorial projects the viewer into the heart of an environment, which is divided into 24 memorial moods based on poignant experiences, in order
to awaken long-term memory.
Immersive experiences pull us out of a reality too complex to grasp. This is the world narrowed in the heart of an enclosed space, a metaphor for a major societal issue: can we finally see the world as a plurality? Can we think outside of one’s body, from
other bodies, from a common body?
The Effect of Linkage Disequilibrium and Family Relationships on the Reliability of Genomic Prediction
Authors: Wientjes Yvonne C J , Veerkamp Roel F , Calus Mario P L 
Published: December 2012

Abstract
Although the concept of genomic selection relies on linkage disequilibrium (LD) between quantitative trait loci and markers, reliability of genomic predictions is strongly influenced by family relationships. In this study, we investigated the effects of LD and family relationships on reliability of genomic predictions and the potential of deterministic formulas to predict reliability using population parameters in populations with complex family structures. Five groups of selection candidates were simulated by taking different information sources from the reference population into account: (1) allele frequencies, (2) LD pattern, (3) haplotypes, (4) haploid chromosomes, and (5) individuals from the reference population, thereby having real family relationships with reference individuals. Reliabilities were predicted using genomic relationships among 529 reference individuals and their relationships with selection candidates and with a deterministic formula where the number of effective chromosome segments (Me) was estimated based on genomic and additive relationship matrices for each scenario. At a heritability of 0.6, reliabilities based on genomic relationships were 0.002 ± 0.0001 (allele frequencies), 0.022 ± 0.001 (LD pattern), 0.018 ± 0.001 (haplotypes), 0.100 ± 0.008 (haploid chromosomes), and 0.318 ± 0.077 (family relationships). At a heritability of 0.1, relative differences among groups were similar. For all scenarios, reliabilities were similar to predictions with a deterministic formula using estimated Me. So, reliabilities can be predicted accurately using empirically estimated Me and level of relationship with reference individuals has a much higher effect on the reliability than linkage disequilibrium per se. Furthermore, accumulated length of shared haplotypes is more important in determining the reliability of genomic prediction than the individual shared haplotype length.
A Simulation Study of Permutation, Bootstrap, and Gene Dropping for Assessing Statistical Significance in the Case of Unequal Relatedness
Authors: Cheng Riyan , Palmer Abraham A 
Published: December 2012

Abstract
We used simulations to evaluate methods for assessing statistical significance in association studies. When the statistical model appropriately accounted for relatedness among individuals, unrestricted permutation tests and a few other simulation-based methods effectively controlled type I error rates; otherwise, only gene dropping controlled type I error but at the expense of statistical power.
The Variance of Identity-by-Descent Sharing in the Wright–Fisher Model
Authors: Carmi Shai , Palamara Pier Francesco , Vacic Vladimir , Lencz Todd , Darvasi Ariel , Pe’er Itsik 
Published: December 2012

AbstractWidespread sharing of long, identical-by-descent (IBD) genetic segments is a hallmark of populations that have experienced recent genetic drift. Detection of these IBD segments has recently become feasible, enabling a wide range of applications from phasing and imputation to demographic inference. Here, we study the distribution of IBD sharing in the Wright–Fisher model. Specifically, using coalescent theory, we calculate the variance of the total sharing between random pairs of individuals. We then investigate the cohort-averaged sharing: the average total sharing between one individual and the rest of the cohort. We find that for large cohorts, the cohort-averaged sharing is distributed approximately normally. Surprisingly, the variance of this distribution does not vanish even for large cohorts, implying the existence of “hypersharing” individuals. The presence of such individuals has consequences for the design of sequencing studies, since, if they are selected for whole-genome sequencing, a larger fraction of the cohort can be subsequently imputed. We calculate the expected gain in power of imputation by IBD and subsequently in power to detect an association, when individuals are either randomly selected or specifically chosen to be the hypersharing individuals. Using our framework, we also compute the variance of an estimator of the population size that is based on the mean IBD sharing and the variance in the sharing between inbred siblings. Finally, we study IBD sharing in an admixture pulse model and show that in the Ashkenazi Jewish population the admixture fraction is correlated with the cohort-averaged sharing.
Mutations to the piRNA Pathway ComponentAubergineEnhance Meiotic Drive of Segregation Distorter inDrosophila melanogaster
Authors: Gell Selena L , Reenan Robert A 
Published: December 2012

AbstractDiploid sexual reproduction involves segregation of allelic pairs, ensuring equal representation of genotypes in the gamete pool. Some genes, however, are able to “cheat” the system by promoting their own transmission. The Segregation distorter (Sd) locus in Drosophila melanogaster males is one of the best-studied examples of this type of phenomenon. In this system the presence of Sd on one copy of chromosome 2 results in dysfunction of the non–Sd-bearing (Sd+) sperm and almost exclusive transmission of Sd to the next generation. The mechanism by which Sd wreaks such selective havoc has remained elusive. However, its effect requires a target locus on chromosome 2 known as Responder (Rsp). The Rsp locus comprises repeated copies of a satellite DNA sequence and Rsp copy number correlates with sensitivity to Sd. Under distorting conditions during spermatogenesis, nuclei with chromosomes containing greater than several hundred Rsp repeats fail to condense chromatin and are eliminated. Recently, Rsp sequences were found as small RNAs in association with Argonaute family proteins Aubergine (Aub) and Argonaute3 (AGO3). These proteins are involved in a germline-specific RNAi mechanism known as the Piwi-interacting RNA (piRNA) pathway, which specifically suppresses transposon activation in the germline. Here, we evaluate the role of piRNAs in segregation distortion by testing the effects of mutations to piRNA pathway components on distortion. Further, we specifically targeted mutations to the aub locus of a Segregation Distorter (SD) chromosome, using ends-out homologous recombination. The data herein demonstrate that mutations to piRNA pathway components act as enhancers of SD.
Caenorhabditis elegans PIG-1/MELK Acts in a Conserved PAR-4/LKB1 Polarity Pathway to Promote Asymmetric Neuroblast Divisions
Authors: Chien Shih-Chieh , Brinkmann Eva-Maria , Teuliere Jerome , Garriga Gian 
Published: December 2012

Abstract
Asymmetric cell divisions produce daughter cells with distinct sizes and fates, a process important for generating cell diversity during development. Many Caenorhabditis elegans neuroblasts, including the posterior daughter of the Q cell (Q.p), divide to produce a larger neuron or neuronal precursor and a smaller cell that dies. These size and fate asymmetries require the gene pig-1, which encodes a protein orthologous to vertebrate MELK and belongs to the AMPK-related family of kinases. Members of this family can be phosphorylated and activated by the tumor suppressor kinase LKB1, a conserved polarity regulator of epithelial cells and neurons. In this study, we present evidence that the C. elegans orthologs of LKB1 (PAR-4) and its partners STRAD (STRD-1) and MO25 (MOP-25.2) regulate the asymmetry of the Q.p neuroblast division. We show that PAR-4 and STRD-1 act in the Q lineage and function genetically in the same pathway as PIG-1. A conserved threonine residue (T169) in the PIG-1 activation loop is essential for PIG-1 activity, consistent with the model that PAR-4 (or another PAR-4-regulated kinase) phosphorylates and activates PIG-1. We also demonstrate that PIG-1 localizes to centrosomes during cell divisions of the Q lineage, but this localization does not depend on T169 or PAR-4. We propose that a PAR-4-STRD-1 complex stimulates PIG-1 kinase activity to promote asymmetric neuroblast divisions and the generation of daughter cells with distinct fates. Changes in cell fate may underlie many of the abnormal behaviors exhibited by cells after loss of PAR-4 or LKB1.
Biogenesis of RNA Polymerases II and III Requires the Conserved GPN Small GTPases in Saccharomyces cerevisiae
Authors: Minaker Sean W , Filiatrault Megan C , Ben-Aroya Shay , Hieter Philip , Stirling Peter C 
Published: December 2012

Abstract
The GPN proteins are a poorly characterized and deeply evolutionarily conserved family of three paralogous small GTPases, Gpn1, 2, and 3. The founding member, GPN1/NPA3/XAB1, is proposed to function in nuclear import of RNA polymerase II along with a recently described protein called Iwr1. Here we show that the previously uncharacterized protein Gpn2 binds both Gpn3 and Npa3/Gpn1 and that temperature-sensitive alleles of Saccharomyces cerevisiae GPN2 and GPN3 exhibit genetic interactions with RNA polymerase II mutants, hypersensitivity to transcription inhibition, and defects in RNA polymerase II nuclear localization. Importantly, we identify previously unrecognized RNA polymerase III localization defects in GPN2, GPN3, and IWR1 mutant backgrounds but find no localization defects of unrelated nuclear proteins or of RNA polymerase I. Previously, it was unclear whether the GPN proteins and Iwr1 had overlapping function in RNA polymerase II assembly or import. In this study, we show that the nuclear import defect of iwr1Δ, but not the GPN2 or GPN3 mutant defects, is partially suppressed by fusion of a nuclear localization signal to the RNA polymerase II subunit Rpb3. These data, combined with strong genetic interactions between GPN2 and IWR1, suggest that the GPN proteins function upstream of Iwr1 in RNA polymerase II and III biogenesis. We propose that the three GPN proteins execute a common, and likely essential, function in RNA polymerase assembly and transport.
Economic Evaluation of Pediatric Cancer Treatment: A Systematic Literature Review
Authors: Russell Heidi V. , Panchal Janki , VonVille Helena , Franzini Luisa , Swint J. Michael 
Published: December 2012

OBJECTIVE:Although there is a growing national focus on health care cost containment and accountability in resource utilization, childhood cancer therapy costs continue to increase without proportionate survival improvements. Economic evaluations (EEs) such as cost and/or cost effectiveness analysis may identify areas to improve resource efficiency. This review aims to identify and characterize the EE studies performed in this field.METHODS:We performed a structured literature search of the Medline, PubMed, and the National Health Service EE databases from 2000 to 2011. Concepts for the search included “cost analyses,” “child,” and “cancer.” Studies were limited to original research, comparison of 2 or more treatments using monetary units, English language, and originating from economically developed countries. Identified studies were assessed by the Drummond checklist and characterized by the therapy studied, data sources, and research perspectives.RESULTS:Forty studies met inclusion criteria. Eleven studied chemotherapy, surgery, or radiation. Twenty-nine studied supportive measures such as growth factor support or treatment of infection. The median Drummond score was 6 of 10 (range, 2–9). Only 15 (36%) included treatment outcomes when comparing costs. Methodological limitations were common.CONCLUSIONS:A wide variety of topics and methodological limitations made comparisons between studies difficult. Strategies for increasing the generalizability of future EE studies are presented. Substantial opportunity exists for EE research in childhood cancer.
Validation of a Migraine Interview for Children and Adolescents
Authors: Lateef Tarannum , Cui Lihong , Heaton Leanne , Nakamura Erin F. , Ding Jinhui , Ahmed Sameer , Merikangas Kathleen R. 
Published: December 2012

OBJECTIVE:
To date there are no structured interviews to ascertain the diagnostic criteria for headache in children. The objective of this study was to assess the validity of the Diagnostic Interview of Headache Syndromes–Child Version (DIHS-C), which was developed at the National Institute of Mental Health for a community-based family study of headache syndromes and comorbid disorders.

METHODS:
The DIHS-C is a fully structured diagnostic interview composed of an open-ended clinical history, modules with key symptoms for each of the major headache subtypes, and associated impairment, duration, frequency, course, and treatment. This article presents the validation of the interview in a sample of 104 children evaluated as part of a community-based family study of migraine.

RESULTS:
The sensitivity of interview diagnosis compared with an expert neurologist’s diagnosis of migraine was 98%, and the specificity was 61%. Similar levels of sensitivity and specificity were found by gender and age of the children.

CONCLUSIONS:
The DIHS-C provides a new tool that can enhance the reliability of pediatric diagnoses in both clinical and community settings.
Weight-Based Victimization: Bullying Experiences of Weight Loss Treatment–Seeking Youth
Authors: Puhl Rebecca M. , Peterson Jamie Lee , Luedicke Joerg 
Published: December 2012

OBJECTIVE:
Few studies have comprehensively examined weight-based victimization (WBV) in youth, despite its serious consequences for their psychosocial and physical health. Given that obese and treatment-seeking youth may be highly vulnerable to WBV and its negative consequences, the current study provides a comprehensive assessment of WBV in a weight loss treatment–seeking sample.

METHODS:
Adolescents (aged 14–18 years; N = 361) enrolled in 2 national weight loss camps were surveyed. An in-depth assessment of WBV was conducted by using an online survey, in which participants indicated the duration, typical locations, frequent perpetrators, and forms of WBV they had experienced.

RESULTS:
Findings indicate that 64% of the study participants reported WBV at school, and the risk of WBV increased with body weight. Most participants reported WBV enduring for 1 year (78%), and 36% were teased/bullied for 5 years. Peers (92%) and friends (70%) were the most commonly reported perpetrators, followed by adult perpetrators, including physical education teachers/sport coaches (42%), parents (37%), and teachers (27%). WBV was most frequently reported in the form of verbal teasing (75%–88%), relational victimization (74%–82%), cyberbullying (59%–61%), and physical aggression (33%–61%). WBV was commonly experienced in multiple locations at school.

CONCLUSIONS:
WBV is a prevalent experience for weight loss treatment–seeking youth, even when they are no longer overweight. Given the frequent reports of WBV from adult perpetrators in addition to peers, treatment providers and school personnel can play an important role in identifying and supporting youth who may be at risk for pervasive teasing and bullying.
Child and Parental Reports of Bullying in a Consecutive Sample of Children With Food Allergy
Authors: Shemesh Eyal , Annunziato Rachel A. , Ambrose Michael A. , Ravid Noga L. , Mullarkey Chloe , Rubes Melissa , Chuang Kelley , Sicherer Mati , Sicherer Scott H. 
Published: December 2012

OBJECTIVE:
The social vulnerability that is associated with food allergy (FA) might predispose children with FA to bullying and harassment. This study sought to quantify the extent, methods, and correlates of bullying in a cohort of food-allergic children.

METHODS:
Patient and parent (83.6% mothers) pairs were consecutively recruited during allergy clinic visits to independently answer questionnaires. Bullying due to FA or for any cause, quality of life (QoL), and distress in both the child and parent were evaluated via questionnaires.

RESULTS:
Of 251 families who completed the surveys, 45.4% of the children and 36.3% of their parents indicated that the child had been bullied or harassed for any reason, and 31.5% of the children and 24.7% of the parents reported bullying specifically due to FA, frequently including threats with foods, primarily by classmates. Bullying was significantly associated with decreased QoL and increased distress in parents and children, independent of the reported severity of the allergy. A greater frequency of bullying was related to poorer QoL. Parents knew about the child-reported bullying in only 52.1% of the cases. Parental knowledge of bullying was associated with better QoL and less distress in the bullied children.

CONCLUSIONS:
Bullying is common in food-allergic children. It is associated with lower QoL and distress in children and their parents. Half of the bullying cases remain unknown to parents. When parents are aware of the bullying, the child’s QoL is better. It is important to proactively identify and address cases in this population.
Obtaining Consent from Both Parents for Pediatric Research: What Does “Reasonably Available” Mean?
Authors: Nelson Daniel K. , Skinner Debra , Guarda Sonia , Choudhury Summer , Sideris John , Barnum Leah , Ten Haagen Kristy , Heyward Quetrell , Bailey Donald B. 
Published: December 2012

OBJECTIVE:
Circumstances surrounding parental availability and decision-making were examined in the setting of a research protocol involving newborn screening (NBS) for fragile X syndrome, in which the institutional review board (IRB) had determined that consent (permission) was required from both parents.

METHODS:
A survey was conducted with 3001 families who were approached to participate in optional NBS. In addition to basic demographics, observational notes detailed the reasons why fathers were not present or deemed “not reasonably available” (per IRB regulations), and content analysis identified the factors for this lack of availability. Logistic regression models estimated the likelihood that both parents would agree to enroll their infant in the screening project.

RESULTS:
Fathers were not present in 589 cases, including 158 in which fathers were ultimately determined to be not reasonably available. Primary reasons for father’s unavailability were deployment with the military, incarceration, living out of state, or not involved in the mother’s life. In cases in which both parents were available, 64% agreed to enroll in the NBS study. Criteria to guide researchers in making required determinations were developed from consultations with IRB officials and legal counsel.

CONCLUSIONS:
In a large-scale population-based study, 19.6% of fathers were absent for the consent process. Scenarios encountered underscore the complexity of parental relations and their implications for obtaining consent for research involving children. The algorithm developed may serve as a useful tool for others in applying the regulatory requirements for dual parental permission.
Part C Early Intervention for Infants and Toddlers: Percentage Eligible Versus Served
Authors: Rosenberg Steven A. , Robinson Cordelia C. , Shaw Evelyn F. , Ellison Misoo C. 
Published: December 2012

OBJECTIVE:Part C early intervention is a nationwide program that serves infants and toddlers who have developmental delays. Previous research has revealed that large numbers of candidates for Part C services do not receive early intervention. Current eligibility criteria for Part C services vary from state to state. This article compares estimates of the percentage of children who are likely to be eligible for early intervention in each state and Washington, DC, with the proportion of children who are served in each of those jurisdictions.METHODS:Data for this study were obtained from the Early Childhood Longitudinal Survey–Birth Cohort. Using these data, we computed the proportion of children who would be eligible based on the numerical eligibility definitions currently in use across the United States.RESULTS:This study revealed the proportion of infants and toddlers likely to be eligible for Part C services ranges from 2% to 78% across the United States. The proportion of children enrolled in Part C ranges from 1.48% to 6.96%.CONCLUSIONS:This research documented substantial variability in the proportion of children who are likely to be eligible for Part C services. Most states have adopted eligibility definitions that make many more children candidates for Part C early intervention than they serve. However, current rates of enrollment are insufficient to serve all children with delays that fall under 2 SDs below the mean on any of the 5 developmental domains that are required to be evaluated by Part C regulations.