LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition

AbstractTo identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition. Here we describe two families with a partial WS phenotype; affected members have the specific WS cognitive profile and vascular disease, but lack other WS features. Submicroscopic chromosome 7q11.23 deletions cosegregate with this phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed two genes, elastin (ELN ) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in impaired visuospatial constructive cognition

Relational Quantum Mechanics

I suggest that the common unease with taking quantum mechanics as a fundamental description of nature (the "measurement problem") could derive from the use of an incorrect notion, as the unease with the Lorentz transformations before Einstein derived from the notion of observer-independent time. I suggest that this incorrect notion is the notion of observer-independent state of a system (or observer-independent values of physical quantities). I reformulate the problem of the "interpretation of quantum mechanics" as the problem of deriving the formalism from a few simple physical postulates. I consider a reformulation of quantum mechanics in terms of information theory. All systems are assumed to be equivalent, there is no observer-observed distinction, and the theory describes only the information that systems have about each other; nevertheless, the theory is complete.Comment: Substantially revised version. LaTeX fil

1960: Abilene Christian College Lectures - Full Text

Table of Contents: Theme Speeches: Christian Faith in the Modern World Basis of Faith - Leonard Mullens - 9 Authority in Christianity - John T. Smithson, Jr. - 27 Origin and Preservation of the Bible - Neil R. Lightfoot - 44 Alleged Discrepancies of the Bible - David H. Bobo - 62 The Unity of the Bible - Jack Meyer - 91 Faith and Reason - Joe Sanders - 115 The Reasonableness of Supernaturalism - Virgil Trout - 126 The Present Statue of the Doctrine of Organic Evolution - J.D. Thomas - 146 The Nature of Man - Roy F. Osborne, Jr. - 181 Modern Challenges to Christian Morals - Carl Spain - 199 The Christ, Whose Son is He? - Gordon Teel - 232 Special Speeches Teaching the Word of God in Korea - L. Haskell Chessfire - 255 The Influence of Christian Education - Judge Jack Pope - 276 Mission Opportunities in the Far East - Harry Robert Fox - 288 Mission Work in Austria - Robert Skelton - 303 Report from Switzerland - Heinrich Blum - 313 The Work in Nigeria - Rees Byrant - 320 The Training of Evangelists in Foreign Fields - Reiner Kallus - 331 Christian Scholarships - Everett Ferguson - 340 Evangelizing the World - A.R. Holton - 349 Panel Discussions The Significance of the Dead Sea Scrolls The Scrolls and the Text of the Bible - Paul Rotenberry - 357 The Relation between the Religion of the Essenes and that of Early Christians - Jay Smith - 366 Biblical Interpretation Expediency and Pattern Authority - J.W. Roberts - 381 Examples in Pattern Authority - Thomas B. Warren - 392 Mental Health and Sin The Present State of Mental Health Knowledge - Donald R. Sime - 409 The Relationship of Mental Health Problems to Sin - Paul Easley - 421 The Teenager The Problems of Youth - Mack Wayne Craig - 432 Influences for Good - Wyatt Sawyer - 443 The Benefits of Abilene Christian College To the Church - Hulen Jackson - 451 To The Home - Robert S. Bell - 459 \u27To the Community - Louie Welch - 465 Expenses At Abilene Christian College - James C. Kerr - 469 The Graduate School at Abilene Christian College What I Am Getting Now in the ACC Graduate Program - Harold Vanderpool - 475 How the ACC Graduate Program Has Stood Up - Everett Ferguson - 481 What the ACC Graduate Program Ought To Be - Frank Pack - 486 The Importance to the Church of the ACC Graduate Program A.R. Holton - 490 Beware: Large File Size Uploaded by Jackson Hage

Decoherence, einselection, and the quantum origins of the classical

Decoherence is caused by the interaction with the environment. Environment monitors certain observables of the system, destroying interference between the pointer states corresponding to their eigenvalues. This leads to environment-induced superselection or einselection, a quantum process associated with selective loss of information. Einselected pointer states are stable. They can retain correlations with the rest of the Universe in spite of the environment. Einselection enforces classicality by imposing an effective ban on the vast majority of the Hilbert space, eliminating especially the flagrantly non-local "Schr\"odinger cat" states. Classical structure of phase space emerges from the quantum Hilbert space in the appropriate macroscopic limit: Combination of einselection with dynamics leads to the idealizations of a point and of a classical trajectory. In measurements, einselection replaces quantum entanglement between the apparatus and the measured system with the classical correlation.Comment: Final version of the review, with brutally compressed figures. Apart from the changes introduced in the editorial process the text is identical with that in the Rev. Mod. Phys. July issue. Also available from http://www.vjquantuminfo.or

Who Benefits From Teams? Comparing Workers, Supervisors, and Managers

This paper offers a political explanation for the diffusion and sustainability of team-based work systems by examining the differential outcomes of team structures for 1200 workers, supervisors, and middle managers in a large unionized telecommunications company. Regression analyses show that participation in self-managed teams is associated with significantly higher levels of perceived discretion, employment security, and satisfaction for workers and the opposite for supervisors. Middle managers who initiate team innovations report higher employment security, but otherwise are not significantly different from their counterparts who are not involved in innovations. By contrast, there are no significant outcomes for employees associated with their participation in offline problem-solving teams

Kepler-14b: A massive hot Jupiter transiting an F star in a close visual binary

We present the discovery of a hot Jupiter transiting an F star in a close visual (03 sky projected angular separation) binary system. The dilution of the host star's light by the nearly equalmagnitude stellar companion (∼0.5mag fainter) significantly affects the derived planetary parameters, and if left uncorrected, leads to an underestimate of the radius and mass of the planet by 10% and 60%, respectively. Other published exoplanets, which have not been observed with high-resolution imaging, could similarly have unresolved stellar companions and thus have incorrectly derived planetary parameters. Kepler-14b (KOI-98) has a period of P = 6.790 days and, correcting for the dilution, has a mass of Mp = 8.40+0.35 -0.34 M J and a radius of Rp = 1.136+0.073 -0.054 R J, yielding a mean density of ρp = 7.1 ± 1.1 g cm-3

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD

Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs). PQTLs consistently replicated between the two cohorts. Features of pQTLs were compared to previously reported expression QTLs (eQTLs). Inference of causal relations of pQTL genotypes, biomarker measurements, and four clinical COPD phenotypes (airflow obstruction, emphysema, exacerbation history, and chronic bronchitis) were explored using conditional independence tests. We identified 527 highly significant (p 10% of measured variation in 13 protein biomarkers, with a single SNP (rs7041; p = 10−392) explaining 71%-75% of the measured variation in vitamin D binding protein (gene = GC). Some of these pQTLs [e.g., pQTLs for VDBP, sRAGE (gene = AGER), surfactant protein D (gene = SFTPD), and TNFRSF10C] have been previously associated with COPD phenotypes. Most pQTLs were local (cis), but distant (trans) pQTL SNPs in the ABO blood group locus were the top pQTL SNPs for five proteins. The inclusion of pQTL SNPs improved the clinical predictive value for the established association of sRAGE and emphysema, and the explanation of variance (R2) for emphysema improved from 0.3 to 0.4 when the pQTL SNP was included in the model along with clinical covariates. Causal modeling provided insight into specific pQTL-disease relationships for airflow obstruction and emphysema. In conclusion, given the frequency of highly significant local pQTLs, the large amount of variance potentially explained by pQTL, and the differences observed between pQTLs and eQTLs SNPs, we recommend that protein biomarker-disease association studies take into account the potential effect of common local SNPs and that pQTLs be integrated along with eQTLs to uncover disease mechanisms. Large-scale blood biomarker studies would also benefit from close attention to the ABO blood group

Bostonia: The Boston University Alumni Magazine. Volume 16

Founded in 1900, Bostonia magazine is Boston University's main alumni publication, which covers alumni and student life, as well as university activities, events, and programs