bluuebunny/crossref_metadata_2025_split huggingface dataset:
What's at Stake in the Lives of People With Intellectual Disability? Part II: Recommendations for Naming, Defining, Diagnosing, Classifying, and Planning Supports
Authors: Luckasson Ruth , Schalock Robert L. 
Published: March 2013

AbstractThis article focuses on recommendations for naming, defining, diagnosing, classifying, and planning supports for individuals with intellectual disability (ID). The article provides an overview of the essential questions addressed by the respective functions and provides a series of specific recommendations that address the high stakes involved for people with ID, their families, and the field of ID.
The Law's Understanding of Intellectual Disability As a Disability
Authors: Ellis James W. 
Published: March 2013

AbstractIntellectual disability (ID) is differently yet validly described by different professions. Legal professionals find it most useful to consider ID as a disability rather than a disorder. Because the law regulates the actions of individuals in a society and the actions of society on an individual, the law's concern in dealing with a person with ID is almost always with that person's functional abilities and limitations in society. This concern is reflected in various aspects of criminal and civil law, although the methods of assessing those functional abilities and limitations have changed considerably over time. The law has not always been wise or humane in its treatment of people with ID, but its focus on functional abilities and limitations allows us to assist people with ID to use their abilities and participate in society to their fullest potential.
Beyond Terminology: The Policy Impact of a Grassroots Movement
Authors: Ford Marty , Acosta Annie , Sutcliffe T. J. 
Published: March 2013

Abstract
This article discusses the history of the grassroots movement led by self-advocates and their families to replace the stigmatizing term mental retardation with intellectual disability in federal statute. It also describes recent and pending changes in federal regulations and policy to adopt the new terminology for Social Security and Medicaid.
Definition of Intellectual Disability in Criminal Court Cases
Authors: Olley J. Gregory 
Published: March 2013

Abstract
Definitions and associated descriptions of the condition now commonly known as intellectual disability serve many functions. The Atkins v. Virginia U.S. Supreme Court decision (2002) has called attention to the importance of clear, objective, and measureable wording of the definition. This article discusses the potential for misunderstanding and misinterpretation of such words as ability and cognitive, the importance of clarifying the role of measurement error and sociocultural factors, and the noncausal relationship between impairment in intelligence and adaptive behavior.
Considering Context: An Integrative Concept for Promoting Outcomes in the Intellectual Disability Field
Authors: Shogren Karrie A. 
Published: March 2013

AbstractIn light of the rapid evolution of research, policy, and practice in the intellectual disability (ID) field resulting from shifts in our conceptualization of disability and in frameworks for the diagnosis and classification of ID, systematic consideration of the multiple, interrelated contextual factors that impact research, policy, and practice are necessary to achieve valued outcomes for individuals with disabilities, their families, and society. The purpose of this article is to introduce a recently developed consensus definition of context and elaborate on application of this definition to research, practice, and policy in the ID field, with a specific focus on how context may be able to serve as an integrative concept to support the attainment of valued outcomes in the disability field for individuals with disabilities, their families, and society.
Gestational Diabetes Mellitus
Authors: Coustan Donald R 
Published: March 2013

BACKGROUND
Gestational diabetes mellitus, defined as diabetes diagnosed during pregnancy that is not clearly overt diabetes, is becoming more common as the epidemic of obesity and type 2 diabetes continues. Newly proposed diagnostic criteria will, if adopted universally, further increase the prevalence of this condition. Much controversy surrounds the diagnosis and management of gestational diabetes.

CONTENT
This review provides information regarding various approaches to the diagnosis of gestational diabetes and the recommendations of a number of professional organizations. The implications of gestational diabetes for both the mother and the offspring are described. Approaches to self-monitoring of blood glucose concentrations and treatment with diet, oral medications, and insulin injections are covered. Management of glucose metabolism during labor and the postpartum period are discussed, and an approach to determining the timing of delivery and the mode of delivery is outlined.

SUMMARY
This review provides an overview of current controversies as well as current recommendations for gestational diabetes care.
ZRT1Harbors an Excess of Nonsynonymous Polymorphism and Shows Evidence of Balancing Selection inSaccharomyces cerevisiae
Authors: Engle Elizabeth K , Fay Justin C 
Published: March 2013

AbstractEstimates of the fraction of nucleotide substitutions driven by positive selection vary widely across different species. Accounting for different estimates of positive selection has been difficult, in part because selection on polymorphism within a species is known to obscure a signal of positive selection among species. While methods have been developed to control for the confounding effects of negative selection against deleterious polymorphism, the impact of balancing selection on estimates of positive selection has not been assessed. In Saccharomyces cerevisiae, there is no signal of positive selection within protein coding sequences as the ratio of nonsynonymous to synonymous polymorphism is higher than that of divergence. To investigate the impact of balancing selection on estimates of positive selection, we examined five genes with high rates of nonsynonymous polymorphism in S. cerevisiae relative to divergence from S. paradoxus. One of the genes, the high-affinity zinc transporter ZRT1 showed an elevated rate of synonymous polymorphism indicative of balancing selection. The high rate of synonymous polymorphism coincided with nonsynonymous divergence among three haplotype groups, among which we found no detectable differences in ZRT1 function. Our results implicate balancing selection in one of five genes exhibiting a large excess of nonsynonymous polymorphism in yeast. We conclude that balancing selection is a potentially important factor in estimating the frequency of positive selection across the yeast genome.
Influence of Steroid Hormone Signaling on Life Span Control byCaenorhabditis elegansInsulin-Like Signaling
Authors: Dumas Kathleen J , Guo Chunfang , Shih Hung-Jen , Hu Patrick J 
Published: March 2013

AbstractSterol-sensing nuclear receptors and insulin-like growth factor signaling play evolutionarily conserved roles in the control of aging. In the nematode Caenorhabditis elegans, bile acid-like steroid hormones known as dafachronic acids (DAs) influence longevity by binding to and regulating the activity of the conserved nuclear receptor DAF-12, and the insulin receptor (InsR) ortholog DAF-2 controls life span by inhibiting the FoxO transcription factor DAF-16. How the DA/DAF-12 pathway interacts with DAF-2/InsR signaling to control life span is poorly understood. Here we specifically investigated the roles of liganded and unliganded DAF-12 in life span control in the context of reduced DAF-2/InsR signaling. In animals with reduced daf-2/InsR activity, mutations that either reduce DA biosynthesis or fully abrogate DAF-12 activity shorten life span, suggesting that liganded DAF-12 promotes longevity. In animals with reduced DAF-2/InsR activity induced by daf-2/InsR RNAi, both liganded and unliganded DAF-12 promote longevity. However, in daf-2/InsR mutants, liganded and unliganded DAF-12 act in opposition to control life span. Thus, multiple DAF-12 activities influence life span in distinct ways in contexts of reduced DAF-2/InsR signaling. Our findings establish new roles for a conserved steroid signaling pathway in life span control and elucidate interactions among DA biosynthetic pathways, DAF-12, and DAF-2/InsR signaling in aging.
A Whole Genome Screen for Minisatellite Stability Genes in Stationary-Phase Yeast Cells
Authors: Alver Bonnie , Jauert Peter A , Brosnan Laura , O’Hehir Melissa , VanderSluis Benjamin , Myers Chad L , Kirkpatrick David T 
Published: March 2013

AbstractRepetitive elements comprise a significant portion of most eukaryotic genomes. Minisatellites, a type of repetitive element composed of repeat units 15−100 bp in length, are stable in actively dividing cells but change in composition during meiosis and in stationary-phase cells. Alterations within minisatellite tracts have been correlated with the onset of a variety of diseases, including diabetes mellitus, myoclonus epilepsy, and several types of cancer. However, little is known about the factors preventing minisatellite alterations. Previously, our laboratory developed a color segregation assay in which a minisatellite was inserted into the ADE2 gene in the yeast Saccharomyces cerevisiae to monitor alteration events. We demonstrated that minisatellite alterations that occur in stationary-phase cells give rise to a specific colony morphology phenotype known as blebbing. Here, we performed a modified version of the synthetic genetic array analysis to screen for mutants that produce a blebbing phenotype. Screens were conducted using two distinctly different minisatellite tracts: the ade2-min3 construct consisting of three identical 20-bp repeats, and the ade2-h7.5 construct, consisting of seven-and-a-half 28-bp variable repeats. Mutations in 102 and 157 genes affect the stability of the ade2-min3 and ade2-h7.5 alleles, respectively. Only seven hits overlapped both screens, indicating that different factors regulate repeat stability depending upon minisatellite size and composition. Importantly, we demonstrate that mismatch repair influences the stability of the ade2-h7.5 allele, indicating that this type of DNA repair stabilizes complex minisatellites in stationary phase cells. Our work provides insight into the factors regulating minisatellite stability.
A Functional Comparison of the 3xP3 Promoter by Recombinase-Mediated Cassette Exchange in Drosophila and a Tephritid Fly, Anastrepha suspensa
Authors: Schetelig Marc F , Handler Alfred M 
Published: March 2013

Abstract
Transposable elements are widely used as vectors for integrating transgenes into the genome of insects. However, the random nature of transposon vector integrations often results in mutations and makes transgene expression subject to variable genomic position effects. This makes reliable quantitative comparisons of different transgenes difficult and development of highly fit transgenic strains laborious. Tools for site-specific transgene targeting are essential for functional genomic comparisons and to develop the most advanced transgenic insect strains for applied use. Here we describe a recombinase-mediated cassette exchange gene targeting system based on Cre/loxP that is highly efficient in Drosophila, and for the first time in a non-drosophilid, the tephritid fly, Anastrepha suspensa. This system allowed a comparison of the Drosophila constitutive polyubiquitin promoter and the artificial 3xP3 tissue-specific promoter in the same genomic context within each species, showing that the widely used 3xP3 promoter is apparently nonfunctional in the tephritid fly.
Activation-Induced Cytidine Deaminase Does Not Impact Murine Meiotic Recombination
Authors: Cortesao Catarina S , Freitas Raquel F , Barreto Vasco M 
Published: March 2013

AbstractActivation-induced cytidine deaminase (AID) was first described as the triggering enzyme of the B-cell−specific reactions that edit the immunoglobulin genes, namely somatic hypermutation, gene conversion, and class switch recombination. Over the years, AID was also detected in cells other than lymphocytes, and it has been assigned additional roles in the innate defense against transforming retroviruses, in retrotransposition restriction and in DNA demethylation. Notably, AID expression was found in germline tissues, and in heterologous systems it can induce the double-strand breaks required for the initiation of meiotic recombination and proper gamete formation. However, because AID-deficient mice are fully fertile, the molecule is not essential for meiosis. Thus, the remaining question that we addressed here is whether AID influences the frequency of meiotic recombination in mice. We measured the recombination events in the meiosis of male and female mice F1 hybrids of C57BL/6J and BALB/c, in Aicda+/+ and Aicda−/− background by using a panel of single-nucleotide polymorphisms that distinguishes C57BL/6J from BALB/c genome across the 19 autosomes. In agreement with the literature, we found that the frequency of recombination in the female germline was greater than in male germline, both in the Aicda+/+ and Aicda−/− backgrounds. No statistical difference was found in the average recombination events between Aicda+/+ and Aidca−/− animals, either in females or males. In addition, the recombination frequencies between single-nucleotide polymorphisms flanking the immunoglobulin heavy and immunoglobulin kappa loci was also not different. We conclude that AID has a minor impact, if any, on the overall frequency of meiotic recombination.
Inferring Gene Function and Network Organization in Drosophila Signaling by Combined Analysis of Pleiotropy and Epistasis
Authors: Carter Gregory W 
Published: March 2013

Abstract
High-throughput genetic interaction screens have enabled functional genomics on a network scale. Groups of cofunctional genes commonly exhibit similar interaction patterns across a large network, leading to novel functional inferences for a minority of previously uncharacterized genes within a group. However, such analyses are often unsuited to cases with a few relevant gene variants or sparse annotation. Here we describe an alternative analysis of cell growth signaling using a computational strategy that integrates patterns of pleiotropy and epistasis to infer how gene knockdowns enhance or suppress the effects of other knockdowns. We analyzed the interaction network for RNAi knockdowns of a set of 93 incompletely annotated genes in a Drosophila melanogaster model of cellular signaling. We inferred novel functional relationships between genes by modeling genetic interactions in terms of knockdown-to-knockdown influences. The method simultaneously analyzes the effects of partially pleiotropic genes on multiple quantitative phenotypes to infer a consistent model of each genetic interaction. From these models we proposed novel candidate Ras inhibitors and their Ras signaling interaction partners, and each of these hypotheses can be inferred independent of network-wide patterns. At the same time, the network-scale interaction patterns consistently mapped pathway organization. The analysis therefore assigns functional relevance to individual genetic interactions while also revealing global genetic architecture.
The Biotinidase Gene Variants Registry: A Paradigm Public Database
Authors: Procter Melinda , Wolf Barry , Crockett David K , Mao Rong 
Published: March 2013

Abstract
The BTD gene codes for production of biotinidase, the enzyme responsible for helping the body reuse and recycle the biotin found in foods. Biotinidase deficiency is an autosomal recessively inherited disorder resulting in the inability to recycle the vitamin biotin and affects approximately 1 in 60,000 newborns. If untreated, the depletion of intracellular biotin leads to impaired activities of the biotin-dependent carboxylases and can result in cutaneous and neurological abnormalities in individuals with the disorder. Mutations in the biotinidase gene (BTD) alter enzymatic function. To date, more than 165 mutations in BTD have been reported. Our group has developed a database that characterizes the known mutations and sequence variants in BTD. (http://arup.utah.edu/database/BTD/BTD_welcome.php). All sequence variants have been verified for their positions within the BTD gene and designated according to standard nomenclature suggested by Human Genome Variation Society (HGVS). In addition, we describe the change in the protein, indicate whether the variant is a known or likely mutation vs. a benign polymorphism, and include the reference that first described the alteration. We also indicate whether the alteration is known to be clinically pathological based on an observation of a known symptomatic individual or predicted to be pathological based on enzymatic activity or putative disruption of the protein structure. We incorporated the published phenotype to help establish genotype-phenotype correlations and facilitate this process for those performing mutation analysis and/or interpreting results. Other features of this database include disease information, relevant links about biotinidase deficiency, reference sequences, ability to query by various criteria, and the process for submitting novel variations. This database is free to the public and will be updated quarterly. This database is a paradigm for formulating databases for other inherited metabolic disorders.
How Biochemical Constraints of Cellular Growth Shape Evolutionary Adaptations in Metabolism
Authors: Berkhout Jan , Bosdriesz Evert , Nikerel Emrah , Molenaar Douwe , de Ridder Dick , Teusink Bas , Bruggeman Frank J 
Published: March 2013

AbstractEvolutionary adaptations in metabolic networks are fundamental to evolution of microbial growth. Studies on unneeded-protein synthesis indicate reductions in fitness upon nonfunctional protein synthesis, showing that cell growth is limited by constraints acting on cellular protein content. Here, we present a theory for optimal metabolic enzyme activity when cells are selected for maximal growth rate given such growth-limiting biochemical constraints. We show how optimal enzyme levels can be understood to result from an enzyme benefit minus cost optimization. The constraints we consider originate from different biochemical aspects of microbial growth, such as competition for limiting amounts of ribosomes or RNA polymerases, or limitations in available energy. Enzyme benefit is related to its kinetics and its importance for fitness, while enzyme cost expresses to what extent resource consumption reduces fitness through constraint-induced reductions of other enzyme levels. A metabolic fitness landscape is introduced to define the fitness potential of an enzyme. This concept is related to the selection coefficient of the enzyme and can be expressed in terms of its fitness benefit and cost.
Suppression of Chromosome Healing and Anticheckpoint Pathways in Yeast Postsenescence Survivors
Authors: Lai Xianning , Heierhorst Jörg 
Published: March 2013

AbstractTelomere repeat-like sequences at DNA double-strand breaks (DSBs) inhibit DNA damage signaling and serve as seeds to convert DSBs to new telomeres in mutagenic chromosome healing pathways. We find here that the response to seed-containing DSBs differs fundamentally between budding yeast (Saccharomyces cerevisiae) cells that maintain their telomeres via telomerase and so-called postsenescence survivors that use recombination-based alternative lengthening of telomere (ALT) mechanisms. Whereas telomere seeds are efficiently elongated by telomerase, they remain remarkably stable without de novo telomerization or extensive end resection in telomerase-deficient (est2Δ, tlc1Δ) postsenescence survivors. This telomere seed hyper-stability in ALT cells is associated with, but not caused by, prolonged DNA damage checkpoint activity (RAD9, RAD53) compared to telomerase-positive cells or presenescent telomerase-negative cells. The results indicate that both chromosome healing and anticheckpoint activity of telomere seeds are suppressed in yeast models of ALT pathways.
Stimulatory Effects of Glucose and Porphyromonas gingivalis Lipopolysaccharide on the Secretion of Inflammatory Mediators From Human Macrophages
Authors: Hung Shan‐Ling , Lee Nin‐Gi , Chang Lien‐Yu , Chen Yen‐Ting , Lai Yu‐Lin 
Published: March 2013

Background: Hyperglycemia is widely considered to be the causal link between diabetes mellitus (DM) and diabetic complications. The purpose of this study is to determine the effects of high glucose in the presence of lipopolysaccharide (LPS) purified from the periodontal pathogen Porphyromonas gingivalis on human macrophages.Methods: Macrophages (U937) were treated with various concentrations of P. gingivalis–LPS under normal (5.5 mM) or high (25 mM) glucose conditions. Mitochondrial dehydrogenase activity was determined using the 3‐[4,5‐dimethylthiazol‐2‐yl]‐2,5 diphenyltetrazolium bromide assay. The levels of inflammatory mediators secreted were determined using the enzyme‐linked immunosorbent assay and the competitive enzyme immunoassay. The intracellular calcium chelator was used to examine whether the intracellular calcium was involved. Statistical differences were assessed using a one‐way analysis of variance and Tukey multiple‐comparison intervals with α = 0.05.Results: High glucose condition enhanced the mitochondrial dehydrogenase activity in macrophages. P. gingivalis–LPS induced the secretion of interleukin (IL)‐6, tumor necrosis factor (TNF)‐α, and prostaglandin E2 (PGE2) in a dose‐dependent manner both in normal and high glucose conditions. The stimulatory effects by P. gingivalis–LPS were more evident when cells were cultured under high glucose conditions. Changes of intracellular calcium concentration were involved not only in high glucose–induced mitochondrial dehydrogenase activity but also in P. gingivalis–LPS‐induced production of IL‐6, TNF‐α, or PGE2, especially under the high glucose conditions.Conclusions: High glucose appeared to enhance the inflammatory response induced by the periodontal pathogen. The information generated may help to delineate the possible mechanisms by which hyperglycemia compromises the periodontal health of patients with DM.
A New Environmentally Friendly Clay Stabilizer
Authors: El-Monier I.A.. A. , Nasr-El-Din H.A.. A. , Harper T.L.. L. , Rosen R.. 
Published: March 2013

Summary
Clay stabilizers are used to prevent fines migration and clay swelling, which are caused by the contact of clays with low salinity or high pH fluids. Previously used clay stabilizers, including hydroxy-aluminum, zirconium oxychloride solutions, and cationic polymers have several drawbacks. Hydroxy-aluminum and zirconium oxychloride solutions can be leached by acids (Coppel et al. 1973). Cationic organic polymers can cause formation damage in some cases (Nasr-El-Din et al. 1999). Their environmental impact is also questionable (Patel 2009). There is a need to develop new clay stabilizers that can work with acid treatments and that are environmentally acceptable.
Laboratory studies were conducted on a newly developed inorganic aluminum/zirconium-based compound. Coreflood experiments were conducted on Berea sandstone cores (1.5 in. in diameter, 6 and 20 in. in length) to assess the effectiveness of the new compound at high temperatures and determine the impact of acids on its performance. Inductively coupled plasma was used to measure the concentrations of aluminum and zirconium in the coreflood effluent samples.
The new clay stabilizer was very effective in mitigating fines migration. Experimental results showed that unlike previous Al/Zr compounds, the new stabilizer was effective even after using several 15 wt% HCl acid washes. In addition, it did not cause formation damage, and worked very well up to 300°F. It is non-toxic, with no smell, and environmentally friendly.