Showing papers by "University of Illinois at Chicago published in 2007"
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University of Vermont1, University of Minnesota2, University of Texas at Austin3, Hong Kong University of Science and Technology4, Osaka University5, University of Queensland6, Griffith University7, University of Illinois at Chicago8, IBM9, Nanjing University10, Imperial College London11, University of Salford12
TL;DR: This paper presents the top 10 data mining algorithms identified by the IEEE International Conference on Data Mining (ICDM) in December 2006: C4.5, k-Means, SVM, Apriori, EM, PageRank, AdaBoost, kNN, Naive Bayes, and CART.
Abstract: This paper presents the top 10 data mining algorithms identified by the IEEE International Conference on Data Mining (ICDM) in December 2006: C4.5, k-Means, SVM, Apriori, EM, PageRank, AdaBoost, kNN, Naive Bayes, and CART. These top 10 algorithms are among the most influential data mining algorithms in the research community. With each algorithm, we provide a description of the algorithm, discuss the impact of the algorithm, and review current and further research on the algorithm. These 10 algorithms cover classification, clustering, statistical learning, association analysis, and link mining, which are all among the most important topics in data mining research and development.
4,944 citations
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01 Nov 2007TL;DR: Comprehensive performance comparisons including accuracy, precision, complexity, scalability, robustness, and cost are presented.
Abstract: Wireless indoor positioning systems have become very popular in recent years. These systems have been successfully used in many applications such as asset tracking and inventory management. This paper provides an overview of the existing wireless indoor positioning solutions and attempts to classify different techniques and systems. Three typical location estimation schemes of triangulation, scene analysis, and proximity are analyzed. We also discuss location fingerprinting in detail since it is used in most current system or solutions. We then examine a set of properties by which location systems are evaluated, and apply this evaluation method to survey a number of existing systems. Comprehensive performance comparisons including accuracy, precision, complexity, scalability, robustness, and cost are presented.
4,123 citations
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TL;DR: The polyvagal perspective emphasizes how an understanding of neurophysiological mechanisms and phylogenetic shifts in neural regulation leads to different questions, paradigms, explanations, and conclusions regarding autonomic function in biobehavioral processes than peripheral models.
2,619 citations
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TL;DR: In this article, a randomised controlled trial of 2784 men aged 18-24 years in Kisumu, Kenya was conducted to determine whether male circumcision had a protective effect against HIV infection, and to assess safety and changes in sexual behaviour related to this intervention.
2,075 citations
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TL;DR: This critical review summarizes the progress made in this field until November 2006 and describes the development of C-H activation methods for direct functionalization of heterocyclic molecules.
Abstract: During the last two decades there has been considerable growth in the development of catalytic reactions capable of activating unreactive C–H bonds. These methods allow for the synthesis of complex molecules from easily available and cheaper precursors in a fewer number of steps. Naturally, the development of C–H activation methods for direct functionalization of heterocyclic molecules, invaluable building blocks for pharmaceutical and synthetic chemistry and material science, has received substantial attention as well. This critical review summarizes the progress made in this field until November 2006 (117 references).
1,461 citations
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McMaster University1, University of Toronto2, Dalhousie University3, Pennsylvania State University4, Nationwide Children's Hospital5, University of Iowa6, University of Miami7, University of South Carolina8, University of Paris9, Pasteur Institute10, University of Gothenburg11, Icahn School of Medicine at Mount Sinai12, Stanford University13, Vanderbilt University14, Johns Hopkins University15, University of North Carolina at Chapel Hill16, University of California, Los Angeles17, University of Pennsylvania18, Washington University in St. Louis19, University of Chicago20, Harvard University21, Emory University22, George Washington University23, Yale University24, University of Utah25, University of Washington26, University of Pittsburgh27, University of California, Irvine28, Veterans Health Administration29, University of Rochester30, University of Toulouse31, German Cancer Research Center32, Goethe University Frankfurt33, National and Kapodistrian University of Athens34, University of Bologna35, Utrecht University36, Guy's Hospital37, King's College London38, University of Cambridge39, University of Manchester40, Newcastle University41, University of Oxford42, University of Illinois at Chicago43, University of Michigan44, Centre Hospitalier Universitaire de Toulouse45, McGill University46, Autism Speaks47
TL;DR: Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
1,338 citations
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TL;DR: In this article, a meta-analysis was conducted to examine the influence of psychological contract breach on 8 work-related outcomes, including actual turnover, attitude, commitment, and in-role performance.
Abstract: A meta-analysis was conducted to examine the influence of psychological contract breach on 8 work-related outcomes. Breach was related to all outcomes except actual turnover. Based on affective events theory, we developed a causal model integrating breach, affect (violation and mistrust), attitude (job satisfaction, organizational commitment, and turnover intentions), and individual effectiveness (actual turnover, organizational citizenship behavior, and in-role performance). Structural equation modeling was used to test the model. The results indicated that affect mediates the effect of breach on attitude and individual effectiveness. Two moderators were also examined including the type of breach measure (global vs. composite) and the content of the psychological contract breach (transactional vs. relational). Theoretical and practical implications of the results are discussed.
1,331 citations
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TL;DR: The findings suggest that metronidazole and vancomycin are equally effective for the treatment of mild CDAD, but vancomYcin is superior for treating patients with severe CDAD.
Abstract: Background. The incidence and severity of Clostridium difficile–associated diarrhea (CDAD) has been increasing, and there have been recent reports of metronidazole treatment failure. Metronidazole is still commonly used as first-line treatment for CDAD but has never been compared with vancomycin in a prospective, randomized, double-blind, placebo-controlled trial. We conducted such a trial, stratifying patients according to disease severity, to investigate whether one agent was superior for treating either mild or severe disease. Methods. From October 1994 through June 2002, patients with CDAD were stratified according to whether they had mild or severe disease based on clinical criteria and were randomly assigned to receive oral metronidazole (250 mg 4 times per day) or oral vancomycin (125 mg 4 times per day) for 10 days. Both groups received an oral placebo in addition to the study drug. Patients were followed up for 21 days to assess cure, treatment failure, relapse, or intolerance. Results. One hundred seventy-two patients were enrolled, and 150 of these patients successfully completed the trial. Among the patients with mild CDAD, treatment with metronidazole or vancomycin resulted in clinical cure in 90% and 98% of the patients, respectively ( P p .36). Among the patients with severe CDAD, treatment with metronidazole or vancomycin resulted in clinical cure in 76% and 97% of the patients, respectively (P p .02). Clinical symptoms recurred in 15% of the patients treated with metronidazole and 14% of those treated with vancomycin. Conclusions. Our findings suggest that metronidazole and vancomycin are equally effective for the treatment of mild CDAD, but vancomycin is superior for treating patients with severe CDAD.
1,237 citations
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Rush University Medical Center1, Columbia University2, Carlos III Health Institute3, Innsbruck Medical University4, University of Pennsylvania5, Medical University of South Carolina6, University of Bonn7, University of Rochester8, Baylor College of Medicine9, University of Toronto10, University College London11, Wayne State University12, University of Illinois at Chicago13, Icahn School of Medicine at Mount Sinai14, University of Toulouse15, Leiden University16, University of Massachusetts Medical School17
TL;DR: The MDS‐UPDRS retains the UPDRS structure of four parts with a total summed score, but the parts have been modified to provide a section that integrates nonmotor elements of PD: I, Nonmotor Experiences of Daily Living; II, Motor Exper experiences of daily Living; III, Motor Examination; and IV, Motor Complications.
Abstract: This article presents the revision process, major innovations, and clinimetric testing program for the Movement Disorder Society (MDS)-sponsored revision of the Unified Parkinson's Disease Rating Scale (UPDRS), known as the MDS-UPDRS. The UPDRS is the most widely used scale for the clinical study of Parkinson's disease (PD). The MDS previously organized a critique of the UPDRS, which cited many strengths, but recommended revision of the scale to accommodate new advances and to resolve problematic areas. An MDS-UPDRS committee prepared the revision using the recommendations of the published critique of the scale. Subcommittees developed new material that was reviewed by the entire committee. A 1-day face-to-face committee meeting was organized to resolve areas of debate and to arrive at a working draft ready for clinimetric testing. The MDS-UPDRS retains the UPDRS structure of four parts with a total summed score, but the parts have been modified to provide a section that integrates nonmotor elements of PD: I, Nonmotor Experiences of Daily Living; II, Motor Experiences of Daily Living; III, Motor Examination; and IV, Motor Complications. All items have five response options with uniform anchors of 0 = normal, 1 = slight, 2 = mild, 3 = moderate, and 4 = severe. Several questions in Part I and all of Part II are written as a patient/caregiver questionnaire, so that the total rater time should remain approximately 30 minutes. Detailed instructions for testing and data acquisition accompany the MDS-UPDRS in order to increase uniform usage. Multiple language editions are planned. A three-part clinimetric program will provide testing of reliability, validity, and responsiveness to interventions. Although the MDS-UPDRS will not be published until it has successfully passed clinimetric testing, explanation of the process, key changes, and clinimetric programs allow clinicians and researchers to understand and participate in the revision process.
1,086 citations
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TL;DR: The study results highlight the importance of various potential public policy measures for improving access to supermarkets that may serve to reduce systematic local area barriers that are shown to exist by race, ethnicity and income.
1,052 citations
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TL;DR: Under conditions commonly used for cholesterol extraction, cyclodextrins may remove cholesterol from both raft and non-raft domains of the membrane as well as alter the distribution of cholesterol between plasma and intracellular membranes.
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TL;DR: In this article, the authors present a detailed analysis of the performance of the Large Hadron Collider (CMS) at 14 TeV and compare it with the state-of-the-art analytical tools.
Abstract: CMS is a general purpose experiment, designed to study the physics of pp collisions at 14 TeV at the Large Hadron Collider (LHC). It currently involves more than 2000 physicists from more than 150 institutes and 37 countries. The LHC will provide extraordinary opportunities for particle physics based on its unprecedented collision energy and luminosity when it begins operation in 2007. The principal aim of this report is to present the strategy of CMS to explore the rich physics programme offered by the LHC. This volume demonstrates the physics capability of the CMS experiment. The prime goals of CMS are to explore physics at the TeV scale and to study the mechanism of electroweak symmetry breaking--through the discovery of the Higgs particle or otherwise. To carry out this task, CMS must be prepared to search for new particles, such as the Higgs boson or supersymmetric partners of the Standard Model particles, from the start-up of the LHC since new physics at the TeV scale may manifest itself with modest data samples of the order of a few fb−1 or less. The analysis tools that have been developed are applied to study in great detail and with all the methodology of performing an analysis on CMS data specific benchmark processes upon which to gauge the performance of CMS. These processes cover several Higgs boson decay channels, the production and decay of new particles such as Z' and supersymmetric particles, Bs production and processes in heavy ion collisions. The simulation of these benchmark processes includes subtle effects such as possible detector miscalibration and misalignment. Besides these benchmark processes, the physics reach of CMS is studied for a large number of signatures arising in the Standard Model and also in theories beyond the Standard Model for integrated luminosities ranging from 1 fb−1 to 30 fb−1. The Standard Model processes include QCD, B-physics, diffraction, detailed studies of the top quark properties, and electroweak physics topics such as the W and Z0 boson properties. The production and decay of the Higgs particle is studied for many observable decays, and the precision with which the Higgs boson properties can be derived is determined. About ten different supersymmetry benchmark points are analysed using full simulation. The CMS discovery reach is evaluated in the SUSY parameter space covering a large variety of decay signatures. Furthermore, the discovery reach for a plethora of alternative models for new physics is explored, notably extra dimensions, new vector boson high mass states, little Higgs models, technicolour and others. Methods to discriminate between models have been investigated. This report is organized as follows. Chapter 1, the Introduction, describes the context of this document. Chapters 2-6 describe examples of full analyses, with photons, electrons, muons, jets, missing ET, B-mesons and τ's, and for quarkonia in heavy ion collisions. Chapters 7-15 describe the physics reach for Standard Model processes, Higgs discovery and searches for new physics beyond the Standard Model
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TL;DR: The Sexual Experiences Survey (SES) as mentioned in this paper assesses victimization and perpetration of unwanted sexual experiences (e.g., Koss, Gidycz, & Wisniewski, 1987).
Abstract: The Sexual Experiences Survey (SES) assesses victimization and perpetration of unwanted sexual experiences (e.g., Koss, Gidycz, & Wisniewski, 1987). Revised versions of the SES that resulted from the work of the SES Collaboration are now available. This article reviews weaknesses of the SES that were identified, strengths that were preserved, and methodological considerations in the measurement of unwanted sexual experiences that informed the revisions. The primary changes include: more behavioral specificity; conversion to gender neutrality; full crossing of unwanted acts and coercive tactics; and revised and updated wording for assessing consent, alcohol-related incidents, unwanted acts, and coercive tactics. For illustration, the full text of the revised victimization version and its scoring rules are provided. The article concludes with suggestions for future research. These suggestions aim to involve researchers in a coordinated agenda to develop data that clarify methodological questions and contribute to continued improvement in assessing sexual victimization and perpetration.
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TL;DR: Analysis of radial and axial diffusivity values suggested that all severities of TBI can result in a degree of axonal damage, while irreversible myelin damage was only apparent for moderate to severe TBI.
Abstract: Traumatic brain injury (TBI) is a serious public health problem. Even injuries classified as mild, the most common, can result in persistent neurobehavioural impairment. Diffuse axonal injury is a common finding after TBI, and is presumed to contribute to outcomes, but may not always be apparent using standard neuroimaging. Diffusion tensor imaging (DTI) is a more recent method of assessing axonal integrity in vivo. The primary objective of the current investigation was to characterize white matter integrity utilizing DTI across the spectrum of chronic TBI of all severities. A secondary objective was to examine the relationship between white matter integrity and cognition. Twenty mild, 17 moderate to severe TBI and 18 controls underwent DTI and neuropsychological testing. Fractional anisotropy, axial diffusivity and radial diffusivity were calculated from the DTI data. Fractional anisotropy was the primary measure of white matter integrity. Region of interest analysis included anterior and posterior corona radiata, cortico-spinal tracts, cingulum fibre bundles, external capsule, forceps minor and major, genu, body and splenium of the corpus callosum, inferior fronto-occipital fasciculus, superior longitudinal fasciculus and sagittal stratum. Cognitive domain scores were calculated from executive, attention and memory testing. Decreased fractional anisotropy was found in all 13 regions of interest for the moderate to severe TBI group, but only in the cortico-spinal tract, sagittal stratum and superior longitudinal fasciculus for the mild TBI group. White Matter Load (a measure of the total number of regions with reduced FA) was negatively correlated with all cognitive domains. Analysis of radial and axial diffusivity values suggested that all severities of TBI can result in a degree of axonal damage, while irreversible myelin damage was only apparent for moderate to severe TBI. The present data emphasize that white matter changes exist on a spectrum, including mild TBI. An index of global white matter neuropathology (White Matter Load) was related to cognitive function, such that greater white matter pathology predicted greater cognitive deficits. Mechanistically, mild TBI white matter changes may be primarily due to axonal damage as opposed to myelin damage. The more severe injuries impact both. DTI provides an objective means for determining the relationship of cognitive deficits to TBI, even in cases where the injury was sustained years prior to the evaluation.
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TL;DR: In this article, the authors argue that schools will be most successful in their educational mission when they integrate efforts to promote children's academic, social, and emotional learning (Elias et al., 1997).
Abstract: Schools will be most successful in their educational mission when they integrate efforts to promote children's academic, social, and emotional learning (Elias et al., 1997). There is general agreem...
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TL;DR: Risks from the loss of nutrients were greater than the risks of harm from exposure to trace contaminants in 340 g seafood eaten weekly, suggesting that advice to limit seafood consumption could actually be detrimental.
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TL;DR: The purpose of the study was to assess the validity and reliability of an instrument designed to measure quality of life, and items applicable to both healthy subjects and dialysis patients were tested with graduate students.
Abstract: The purpose of the study on which this article is based was to assess the validity and reliability of an instrument designed to measure quality of life. Sixty-four items applicable to both healthy subjects and dialysis patients were tested with graduate students (n = 88); six items relative to dialysis were added, and the instrument was administered to dialysis patients (n = 37). Items were based on literature review, which supported content validity. Correlations between the instrument and an overall satisfaction with life question of 0.75 (graduate students) and 0.65 (dialysis patients) supported criterion-related validity. Support for reliability was provided by test-retest correlations of 0.87 (graduate students) and 0.81 (dialysis patients and Cronbach's alphas of 0.93 (graduate students) and 0.90 (dialysis patients.
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Kent State University1, University of Illinois at Chicago2, University of New South Wales3, University of California, Los Angeles4, United States Department of Veterans Affairs5, University of Amsterdam6, VU University Amsterdam7, Brigham Young University8, San Francisco VA Medical Center9, Columbia University10, United States Department of Health and Human Services11, Tel Aviv University12
TL;DR: In this paper, a worldwide panel of experts on the study and treatment of those exposed to disaster and mass violence to extrapolate from related fields of research, and to gain consensus on intervention principles.
Abstract: Given the devastation caused by disasters and mass violence, it is critical that intervention policy be based on the most updated research findings. However, to date, no evidence-based consensus has been reached supporting a clear set of recommendations for intervention during the immediate and the mid-term post mass trauma phases. Because it is unlikely that there will be evidence in the near or mid-term future from clinical trials that cover the diversity of disaster and mass violence circumstances, we assembled a worldwide panel of experts on the study and treatment of those exposed to disaster and mass violence to extrapolate from related fields of research, and to gain consensus on intervention principles. We identified five empirically supported intervention principles that should be used to guide and inform intervention and prevention efforts at the early to mid-term stages. These are promoting: 1) a sense of safety, 2) calming, 3) a sense of self- and community efficacy, 4) connectedness, and 5) hope.
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Mayo Clinic1, University of Cologne2, Indiana University3, University of Texas MD Anderson Cancer Center4, Uppsala University5, Royal Hallamshire Hospital6, Medical University of Vienna7, University of Florence8, University of Barcelona9, University of Illinois at Chicago10, Harvard University11, Ohio State University12, University of Chicago13
TL;DR: In this paper, the authors proposed a revision of the current World Health Organization (WHO) diagnostic criteria for polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), which was subsequently presented by an international expert panel of pathologists and clinical investigators in myeloproliferative disorders.
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TL;DR: This review highlights recent developments aimed at deciphering the interplay between Akt and mTORCs as well as their role in embryonic development and in cancer.
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TL;DR: It is proposed that lipid rafts are membrane domains in which neurotransmitter signalling might occur through a clustering of receptors and components of receptor-activated signalling cascades, which influences the potency and efficacy of neurotransmitter receptors and transporters.
Abstract: Lipid rafts — specialized plasma membrane microdomains that are thought to regulate various signalling events — are the focus of intensive research into their roles in the nervous system. Here, Rasenick and colleagues review the evidence for their involvement in regulating neurotransmitter signalling. Lipid rafts are specialized structures on the plasma membrane that have an altered lipid composition as well as links to the cytoskeleton. It has been proposed that these structures are membrane domains in which neurotransmitter signalling might occur through a clustering of receptors and components of receptor-activated signalling cascades. The localization of these proteins in lipid rafts, which is affected by the cytoskeleton, also influences the potency and efficacy of neurotransmitter receptors and transporters. The effect of lipid rafts on neurotransmitter signalling has also been implicated in neurological and psychiatric diseases.
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TL;DR: In this article, the effects of 13 material and operating parameters on electrospun fiber diameters are determined by varying the parameter values in an electrospinning theoretical model, and the results show that the five parameters (volumetric charge density, distance from nozzle to collector, initial jet/orifice radius, relaxation time, and viscosity) have the most significant effect on the jet radius.
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TL;DR: In this paper, a cost-effective optimum design criterion for organic Rankine power cycles utilizing low-temperature geothermal heat sources is presented, where the ratio of the total heat exchanger area to net power output is used as the objective function and was optimized using the steepest descent method.
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TL;DR: N-back has face validity as a WM task, but it does not demonstrate convergent validity with at least 1 established WM measure, and N-back and WM span correlated weakly, suggesting they do not reflect primarily a single construct.
Abstract: The N-back task requires participants to decide whether each stimulus in a sequence matches the one that appeared n items ago. Although N-back has become a standard "executive" working memory (WM) measure in cognitive neuroscience, it has been subjected to few behavioral tests of construct validity. A combined experimental- correlational study tested the attention-control demands of verbal 2- and 3-back tasks by presenting n = 1 "lure" foils. Lures elicited more false alarms than control foils in both 2- and 3-back tasks, and lures caused more misses to targets that immediately followed them compared with control targets, but only in 3-back tasks. N-back thus challenges control over familiarity-based responding. Participants also completed a verbal WM span task (operation span task) and a marker test of general fluid intelligence (Gf; Ravens Advanced Progressive Matrices Test; J. C. Raven, J. E. Raven, & J. H. Court, 1998). N-back and WM span correlated weakly, suggesting they do not reflect primarily a single construct; moreover, both accounted for independent variance in Gf. N-back has face validity as a WM task, but it does not demonstrate convergent validity with at least 1 established WM measure.
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TL;DR: Postal and telephone strategies have generally been more successful than have fax or Web-based approaches and use of first-class stamps on return envelopes and questionnaires designed to be brief, personalized, and endorsed by legitimizing professional associations were also more likely to be successful.
Abstract: Although physician surveys are an important tool in health services and policy research, they are often characterized by low response rates. The authors conducted a systematic review of 66 published reports of efforts to improve response rates to physician surveys. Two general strategies were explored in this literature: incentive and design-based approaches. Even small financial incentives were found to be effective in improving physician response. Token nonmonetary incentives were much less effective. In terms of design strategies, postal and telephone strategies have generally been more successful than have fax or Web-based approaches, with evidence also supporting use of mixed-mode surveys in this population. In addition, use of first-class stamps on return envelopes and questionnaires designed to be brief, personalized, and endorsed by legitimizing professional associations were also more likely to be successful. Researchers should continue to implement design strategies that have been documented to improve the survey response of physicians.
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TL;DR: Important differences in EQ-5D utility and VAS scores were similar for all cancers and lung cancer, with the lower end of the range of estimates closer to the MID, i.e. 0.08 for UK-index scores, 0.06 for US- index scores, and 0.07 for VAS Scores.
Abstract: Background
Understanding what constitutes an important difference on a HRQL measure is critical to its interpretation. The aim of this study was to provide a range of estimates of minimally important differences (MIDs) in EQ-5D scores in cancer and to determine if estimates are comparable in lung cancer.
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University of Missouri1, Auburn University2, University of Cincinnati3, United States Environmental Protection Agency4, Maryville College5, University of Siena6, University of Florida7, Harvard University8, National Institutes of Health9, Washington State University10, National Institutes of Natural Sciences, Japan11, Brunel University London12, Case Western Reserve University13, University of Connecticut14, North Carolina State University15, Emory University16, Tulane University17, Universidad Miguel Hernández de Elche18, University of Granada19, University of Illinois at Chicago20, United States Geological Survey21, Tufts University22, Charité23, Carleton College24, University of Texas Medical Branch25, University of Massachusetts Amherst26
TL;DR: This document is a summary statement of the outcome from he meeting: “Bisphenol A: An Examination of the Relevance of cological, In vitro and Laboratory Animal Studies for Assessng Risks to Human Health” sponsored by both the NIEHS and IDCR at NIH/DHHS.
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TL;DR: Sex differences in depression were partially explained by girls reporting more stressors, especially peer events, and the longitudinal direction of effects between depression and stressors varied depending on the stressor domain.
Abstract: Stress exposure and reactivity models were examined as explanations for why girls exhibit greater levels of depressive symptoms than boys. In a multiwave, longitudinal design, adolescents' depressive symptoms, alcohol usage, and occurrence of stressors were assessed at baseline, 6, and 12 months later (N=538; 54.5% female; ages 13-18, average 14.9). Daily stressors were coded into developmentally salient domains using a modified contextual-threat approach. Girls reported more depressive symptoms and stressors in certain contexts (e.g., interpersonal) than boys. Sex differences in depression were partially explained by girls reporting more stressors, especially peer events. The longitudinal direction of effects between depression and stressors varied depending on the stressor domain. Girls reacted more strongly to stressors in the form of depression.
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TL;DR: This work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date.
Abstract: Autism is a childhood neurodevelopmental disorder with a strong genetic component, yet the identification of autism susceptibility loci remains elusive. We investigated 180 autism probands and 372 control subjects by array comparative genomic hybridization (aCGH) using a 19K whole-genome tiling path bacterial artificial chromosome microarray to identify submicroscopic chromosomal rearrangements specific to autism. We discovered a recurrent 16p11.2 microdeletion in two probands with autism and none in controls. The deletion spans 500-kb and is flanked by 147-kb segmental duplications (SDs) that are >99% identical, a common characteristic of genomic disorders. We assessed the frequency of this new autism genomic disorder by screening an additional 532 probands and 465 controls by quantitative PCR and identified two more patients but no controls with the microdeletion, indicating a combined frequency of 0.6% (4/712 autism versus 0/837 controls; Fisher exact test P 5 0.044). We confirmed all 16p11.2 deletions using fluorescence in situ hybridization, microsatellite analyses and aCGH, and mapped the approximate deletion breakpoints to the edges of the flanking SDs using a custom-designed high-density oligonucleotide microarray. Bioinformatic analysis localized 12 of the 25 genes within the microdeletion to nodes in one interaction network. We performed phenotype analyses and found no striking features that distinguish patients with the 16p11.2 microdeletion as a distinct autism subtype. Our work reports the first frequency, breakpoint, bioinformatic and phenotypic analyses of a de novo 16p11.2 microdeletion that represents one of the most common recurrent genomic disorders associated with autism to date.