cometadata/datacite-rtg-text-other-reclassification-records huggingface dataset:
Increased corpus callosum volume in children with chromosome 22q11.2 deletion syndrome is associated with neurocognitive deficits and genetic polymorphisms
Creators: name: Schoch, Kelly
name: Ip, Edward
name: Tandon, Neeraj
name: Francis, Alan
name: Kranz, Peter G
name: Howard, Timothy D
name: Zapadka, Michael
name: Hooper, Stephen R
name: Shashi, Vandana
name: Keshavan, Matcheri S
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with neurocognitive impairments. The neural substrates of cognitive impairments in 22q11DS remain poorly understood. Because the corpus callosum (CC) is found to be abnormal in a variety of neurodevelopmental disorders, we obtained volumetric measurements of the CC and its subregions, examined the relationship between these regions and neurocognition and selected genotypes within candidate genes in the 22q11.2 interval in 59 children with 22q11DS and 53 control subjects. The total CC, splenium and genu were significantly larger in children with 22q11DS and the enlargement was associated with better neurocognitive functioning in the 22q11DS group, suggestive of a compensatory increase in the CC volumes. The expected age-related increase in the volume of the CC was not seen in children with 22q11DS, indicative of dysmaturation of the CC in these children. The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). These findings indicate that alterations in the CC volume in children with 22q11DS are associated with cognition and specific genotypes in the 22q11.2 interval.
Chiral-field microwave antennas (Chiral microwave near fields for far-field radiation)
Creators: name: Kamenetskii, E. O.
name: Berezin, M.
name: Shavit, R.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Optics (physics.optics)
subject: FOS: Physical sciences

description: In a single-element structure we obtain a radiation pattern with a squint due to chiral microwave near fields originated from a magnetostatic-mode ferrite disk. At the magnetostatic resonances, one has strong subwavelength localization of energy of microwave radiation. Magnetostatic oscillations in a thin ferrite disk are characterized by unique topological properties: the Poynting-vector vortices and the field helicity. The chiral-topology near fields allow obtaining unique phase structure distribution for far-field microwave radiation.
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Creators: name: Traylor, Ryan N
name: Shaffer, Lisa G
name: Schaefer, G Bradley
name: Rosenfeld, Jill A
name: Klopocki, Eva
name: McPherson, Elizabeth W
name: Aylsworth, Arthur S
name: Mundlos, Stefan
name: Ballif, Blake C
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2012

description: Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. Therefore, to elucidate the clinical significance of rearrangements of the proximal 1q21.1 region, we evaluated the phenotypes in patients identified with 1q21.1 rearrangements after referral for clinical microarray testing. We report clinical information for 55 probands with copy number variations (CNVs) involving proximal 1q21.1: 22 microdeletions and 20 reciprocal microduplications limited to proximal 1q21.1 and 13 microdeletions that include both the proximal and distal regions. Six individuals with proximal microdeletions have TAR syndrome. Three individuals with proximal microdeletions and two individuals with larger microdeletions of proximal and distal 1q21.1 have a ‘partial' TAR phenotype. Furthermore, one subject with TAR syndrome has a smaller, atypical deletion, narrowing the critical deletion region for the syndrome. Otherwise, phenotypic features varied among individuals with these microdeletions and microduplications. The recurrent, proximal 1q21.1 microduplications are enriched in our population undergoing genetic testing compared with control populations. Therefore, CNVs in proximal 1q21.1 can be a contributing factor for the development of abnormal phenotypes in some carriers.
Enhancing $B_s \to e^+ e^-$ to an Observable Level in the Two-Higgs-Doublet Model
Creators: name: Black, Matthew
name: Plascencia, Alexis D.
name: Tetlalmatzi-Xolocotzi, Gilberto
Publisher: name: arXiv
Year: 2022
Subjects: subject: High Energy Physics - Phenomenology (hep-ph)
subject: FOS: Physical sciences

description: As a result of the helicity suppression effect, within the Standard Model the rare decay channel $B_s \to e^+ e^-$ has a decay probability which is five orders of magnitude below current experimental limits. Thus, any observation of this channel within the current or forthcoming experiments will give unambiguous evidence of Physics Beyond the Standard Model. In this work, we present for the first time a New Physics scenario in which the branching fraction $\bar{\mathcal{B}}r(B_s \to e^+ e^-)$ is enhanced up to values which saturate the current experimental bounds. More concretely, we study the general Two-Higgs-Doublet Model (2HDM) with a pseudoscalar coupling to electrons unsuppressed by the electron mass. Furthermore, we demonstrate how this scenario can arise from a UV-complete theory of quark-lepton unification that can live at a low scale. This latter step allows us to establish correlations between $B_s \to e^+ e^-$ and the lepton-flavour-violating decays $τ^{-}\to μ^{-}e^+ e^-$ and $τ\to μγ$.
description: 22 pages, 6 figures
Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
Creators: name: van Tol, Maarten JD
name: Wang, Jun
name: van Eggermond, Marja CJA
name: Ferster, Alina
name: Schulz, Ansgar
name: Powell, Cynthia
name: Thijssen, Peter E
name: Meyn, Stephan
name: Schuetz, Catharina
name: van Ostaijen-ten Dam, Monique M
name: Shugar, Andrea
name: van der Maarel, Silvère M
name: Graham Davies, E
name: Kloeckener-Gruissem, Barbara
name: Brunetti-Pierri, Nicola
name: Aytekin, Caner
name: Furthner, Dieter
name: Reisli, Ismail
name: Weemaes, Corry MR
name: Gennery, Andy
name: van der Burg, Mirjam
name: Gimelli, Giorgio
name: van den Elsen, Peter J
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype–phenotype correlations, we compared clinical and genetic data of 44 ICF patients. Of them, 23 had mutations in DNMT3B (ICF1), 13 patients had mutations in ZBTB24 (ICF2), whereas for 8 patients, the gene defect has not yet been identified (ICFX). While at first sight these patients share the same immunological, morphological and epigenetic hallmarks of the disease, systematic evaluation of all reported informative cases shows that: (1) the humoral immunodeficiency is generally more pronounced in ICF1 patients, (2) B- and T-cell compartments are both involved in ICF1 and ICF2, (3) ICF2 patients have a significantly higher incidence of intellectual disability and (4) congenital malformations can be observed in some ICF1 and ICF2 cases. It is expected that these observations on prevalence and clinical presentation will facilitate mutation-screening strategies and help in diagnostic counseling.
Mosaic copy number variation in schizophrenia
Creators: name: St Clair, David
name: Pato, Carlos
name: O’Donovan, Michael C
name: Purcell, Shaun M
name: Owen, Michael J
name: Ernst, Carl
name: Corvin, Aiden
name: Magnusson, Patrick
name: Ruderfer, Douglas M
name: Blackwood, Douglas H
name: Gigek, Carolina
name: Kirov, George
name: Hultman, Christina M
name: Chen, Elizabeth S
name: Moran, Jennifer
name: Talkowski, Michael
name: Chambert, Kim
name: Gusella, James F
name: Gurling, Hugh M
name: Sklar, Pamela
name: Sullivan, Patrick F
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single-nucleotide polymorphism genotyping arrays for evidence of chromosomal anomalies. Data from genotyping arrays on each individual were processed using Birdsuite and analyzed with PLINK. We validated potential chromosomal anomalies using custom nanostring probes and quantitative PCR. We estimate chromosomal alterations in the schizophrenia population to be 0.42%, which is not significantly different from controls (0.26%). We identified and validated a set of four extremely large (>10 Mb) chromosomal anomalies in subjects with schizophrenia, including a chromosome 8 trisomy and deletion of the q arm of chromosome 7. These data demonstrate that chromosomal anomalies are present at low frequency in blood cells of both control and schizophrenia subjects.
Current issues with conodont tissues: using multi-analytical methods to unravel the conodont conundrum
Creators: name: Shirley, Bryan
name: Jarochowska, Emilia
Publisher: name: Zenodo
Year: 2023

description: ABSTRACT: Conodonts are a highly diverse group of chordates that thrived in prehistoric oceans from the late Cambrian to Late Triassic and are widely known from their isolated skeletal remains. The ecology of this animal has puzzled scientists for years, as the majority of studies are based upon information solely obtained from these teeth known as elements. This is further complicated due to the rarity of soft body remains that are often applied as the only analogue for all conodont taxa. These elements grew by lateral accretion of enamel-like hydroxyapatite throughout the animal’s life, which provides a somewhat continuous record of growth, potentially storing information about the life of the animal itself within these tissues. Here we attempt to answer the question “How much information about an animal’s mode of life can one obtain from an isolated tooth?”. With a combination of scanning electron microscope techniques, we can analyse the chemistry, crystallography and growth, unlocking this invaluable information. These methods, when used in combination, have been used to quantify an animal’s ontogeny, growth rates, ecology, function, and even the level of control on biomineralization that drove the evolution of the first teeth.
Population structure, migration and diversifying selection in the Netherlands
Creators: name: Sullivan, Patrick F
name: Brooks, Andrew
name: Willemsen, Gonneke
name: van Beijsterveldt, Toos
name: Scheet, Paul
name: Nivard, Michel G
name: Xiao, Xiangjun
name: Hottenga, Jouke-Jan
name: Davies, Gareth E
name: Penninx, Brenda W J H
name: Knijff, Peter de
name: Boomsma, Dorret I
name: de Geus, Eco J
name: Hu, Yueshan
name: Ehli, Erik A
name: Abdellaoui, Abdel
name: Hudziak, James J
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Genetic variation in a population can be summarized through principal component analysis (PCA) on genome-wide data. PCs derived from such analyses are valuable for genetic association studies, where they can correct for population stratification. We investigated how to capture the genetic population structure in a well-characterized sample from the Netherlands and in a worldwide data set and examined whether (1) removing long-range linkage disequilibrium (LD) regions and LD-based SNP pruning significantly improves correlations between PCs and geography and (2) whether genetic differentiation may have been influenced by migration and/or selection. In the Netherlands, three PCs showed significant correlations with geography, distinguishing between: (1) North and South; (2) East and West; and (3) the middle-band and the rest of the country. The third PC only emerged with minimized LD, which also significantly increased correlations with geography for the other two PCs. In addition to geography, the Dutch North–South PC showed correlations with genome-wide homozygosity (r=0.245), which may reflect a serial-founder effect due to northwards migration, and also with height (♂: r=0.142, ♀: r=0.153). The divergence between subpopulations identified by PCs is partly driven by selection pressures. The first three PCs showed significant signals for diversifying selection (545 SNPs - the majority within 184 genes). The strongest signal was observed between North and South for the functional SNP in HERC2 that determines human blue/brown eye color. Thus, this study demonstrates how to increase ancestry signals in a relatively homogeneous population and how those signals can reveal evolutionary history.
The next controversy in genetic testing: clinical data as trade secrets?
Creators: name: Conley, John M
name: Cook-Deegan, Robert
name: Vorhaus, Daniel
name: Evans, James P
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: Sole-source business models for genetic testing can create private databases containing information vital to interpreting the clinical significance of human genetic variations. But incomplete access to those databases threatens to impede the clinical interpretation of genomic medicine. National health systems and insurers, regulators, researchers, providers and patients all have a strong interest in ensuring broad access to information about the clinical significance of variants discovered through genetic testing. They can create incentives for sharing data and interpretive algorithms in several ways, including: promoting voluntary sharing; requiring laboratories to share as a condition of payment for or regulatory approval of laboratory services; establishing – and compelling participation in – resources that capture the information needed to interpret the data independent of company policies; and paying for sharing and interpretation in addition to paying for the test itself. US policies have failed to address the data-sharing issue. The entry of new and established firms into the European genetic testing market presents an opportunity to correct this failure.
การผลิตซ้ำอุดมการณ์ชาตินิยมผ่านการเป็นมรดกโลกทางวัฒนธรรมในกรุงมอสโก ประเทศรัสเซีย
Creators: name: กติมา พ่วงชิงงาม
Publisher: name: คณะศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์
Year: 2018
Subjects: การผลิตซ้ำ
อุดมการณ์ชาตินิยม
มรดกโลก
แหล่งมรดกโลกทางวัฒนธรรม
มอสโก

description: วารสารศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์, 18, 2, 1-25
WikiGWA: an open platform for collecting and using genome-wide association results
Creators: name: Welch, Ryan
name: Willer, Cristen
name: Huang, Jie
name: Hindorff, Lucia A
name: Liu, Eric Y
name: Li, Yun
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2013

description: The number of discovered genetic variants from genome-wide association (GWA) studies (GWAS) has been growing rapidly. Centralized efforts such as the National Human Genome Research Institute's GWAS catalog provide regular updates and a convenient interface for quick lookup. However, the catalog entries are manually curated and rely on data from published articles. Other tools such as SNPedia (http://www.snpedia.com) collect published results regarding functional consequences of genetic variations. Here, we propose an approach that allows individual investigators to share their GWA results through an open platform. Unlike GWAS catalog or SNPedia, wikiGWA collects first-hand GWAS results and in a much larger scale. Investigators are not only able to post a much larger amount of results, but also post results from unpublished studies, which could alleviate publication bias and facilitate identification of weak signals. Our interface allows for flexible and fast queries, and the query results are formatted to work seamlessly with the LocusZoom program for visualization and annotation. We here describe wikiGWA, made publically available at http://www.wikiGWA.org.
Ultrafast coherent THz lattice dynamics coupled to spins in the van der Waals antiferromagnet FePS3
Creators: name: Mertens, Fabian
name: Mönkebüscher, David
name: Parlak, Umut
name: Boix-Constant, Carla
name: Mañas-Valero, Samuel
name: Matzer, Margherita
name: Adhikari, Rajdeep
name: Bonanni, Alberta
name: Coronado, Eugenio
name: Kalashnikova, Alexandra M.
name: Bossini, Davide
name: Cinchetti, Mirko
Publisher: name: TU Dortmund
Year: 2022
Subjects: subject: 2D materials
subject: Antiferromagnets
subject: Magnon
subject: Phonon
subject: Spintronics
subject: Ultrafast pump-probe spectroscopy
subject: van der Waals semiconductors
subject: 539

description: Coherent THz optical lattice and hybridized phonon–magnon modes are triggered by femtosecond laser pulses in the antiferromagnetic van der Waals semiconductor FePS3. The laser-driven lattice and spin dynamics are investigated in a bulk crystal as well as in a 380 nm-thick exfoliated flake as a function of the excitation photon energy, sample temperature and applied magnetic field. The pump-probe magneto-optical measurements reveal that the amplitude of a coherent phonon mode oscillating at 3.2 THz decreases as the sample is heated up to the Néel temperature. This signal eventually vanishes as the phase transition to the paramagnetic phase occurs, thus revealing its connection to the long-range magnetic order. In the presence of an external magnetic field, the optically triggered 3.2 THz phonon hybridizes with a magnon mode, which is utilized to excite the hybridized phonon–magnon mode optically. These findings open a pathway toward the optical control of coherent THz photo–magnonic dynamics in a van der Waals antiferromagnet, which can be scaled down to the 2D limit.
description: Advanced materials;35(6)
การศึกษาหนังสือเรียนภาษาไทย ภาษาพาที: ความสอดคล้องกับยุทธศาสตร์ที่ 1 การเสริมสร้างและพัฒนาศักยภาพทุนมนุษยในแผนพัฒนาเศรษฐกิจและสังคมแห่งชาติ ฉบับที่สิบสอง1
Creators: name: รังรอง เจียมวิจักษณ์
Publisher: name: คณะศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์
Year: 2018
Subjects: หนังสือเรียนภาษาไทย
ภาษาพาที
แผนพัฒนาเศรษฐกิจและสังคมแห่งชาติฉบับที่สิบสอง
ยุทธศาสตร์ที่ 1

description: วารสารศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์, 18, 2, 26-54
Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation
Creators: name: Tuttle, Emily
name: Thio, Liu Lin
name: Paciorkowski, Alex R
name: Ghoneim, Dalia
name: Spencer, Adam
name: Christian, Susan L
name: Weisenberg, Judy
name: Dobyns, William B
name: Paschal, Bryce M
name: Kelley, Joshua B
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2014

description: Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal and bind to importin-β. Here, we describe autosomal recessive mutations in KPNA7 found by whole exome sequencing in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox–Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia. The mutations mapped to exon 7 in KPNA7 result in two amino-acid substitutions, Pro339Ala and Glu344Gln. On the basis of the crystal structure of the paralog KPNA2 bound to a bipartite nuclear localization signal from the retinoblastoma protein, the amino-acid substitutions in the affected subjects were predicted to occur within the seventh armadillo repeat that forms one of the two nuclear localization signal-binding sites in KPNA family members. Glu344 is conserved in all seven KPNA proteins, and we found that the Glu354Gln mutation in KPNA2 is sufficient to reduce binding to the retinoblastoma nuclear localization signal to approximately one-half that of wild-type protein. Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor.
A new LEED Instrument for Quantitative Spot Profile Analysis
Creators: name: Scheithauer, U.
name: Meyer, G.
name: Henzler, M.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Materials Science (cond-mat.mtrl-sci)
subject: FOS: Physical sciences

description: A new instrument for spot profile analysis of electron diffraction - SPA-LEED - has been set up. The instrument works either with a transparent phosphor screen for visual inspection of the pattern or in its main mode with a channeltron for the measurement of the intensity. The diffraction pattern is recorded with a fixed channeltron position by scanning the beam over the channeltron aperture using two sets of electrostatic deflection plates. The scanning range covers about 30°. The intensity may vary over five orders of magnitude. The SPA-LEED system was checked with the Si 111 7 x 7 surface. A full width at half maximum of 0.3% of the normal reflex distance corresponding to a transfer width of 110 nm is reproducibly obtained. Under optimum conditions the transfer width rose up to about 200 nm. Initial high resolution measurements have been performed on the system Pb on Cu 111. The results demonstrate the possibilities of the new instrument for qualitative and quantitative analysis.
Replication of the effect of SLC2A9 genetic variation on serum uric acid levels in American Indians
Creators: name: Laston, Sandra
name: Umans, Jason G
name: North, Kari E
name: Franceschini, Nora
name: MacCluer, Jean W
name: Cole, Shelley A
name: Voruganti, V Saroja
name: Comuzzie, Anthony G
name: Haack, Karin
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2014

description: Increased serum uric acid (SUA) or hyperuricemia, a risk factor for gout, renal and cardiovascular diseases, is caused by either increased production or decreased excretion of uric acid or a mix of both. The solute carrier protein 2 family, member 9 (SLC2A9) gene encodes a transporter that mediates urate flux across the renal proximal tubule. Genome-wide association studies have consistently shown the association of single-nucleotide polymorphisms in this gene with SUA in majority populations. American Indian participants of the Strong Heart Family Study, belonging to multigenerational families, have high prevalence of hyperuricemia. We conducted measured genotype analyses, based on variance components decomposition method and accounting for family relationships, to assess whether the association between SUA and SLC2A9 gene polymorphisms generalized to American Indians (n=3604) of this study. Seven polymorphisms were selected for genotyping based on their association with SUA levels in other populations. A strong association was found between SLC2A9 gene polymorphisms and SUA in all centers combined (P-values: 1.3 × 10−31–5.1 × 10−23) and also when stratified by recruitment center; P-values: 1.2 × 10−14–1.0 × 10−5. These polymorphisms were also associated with the estimated glomerular filtration rate and serum creatinine but not albumin–creatinine ratio. In summary, the association of polymorphisms in the uric acid transporter gene with SUA levels extends to a new population of American Indians.
Transport map accelerated Markov chain Monte Carlo
Creators: name: Parno, Matthew
name: Marzouk, Youssef
Publisher: name: arXiv
Year: 2014
Subjects: subject: Computation (stat.CO)
subject: FOS: Computer and information sciences
subject: 65C05, 28D05, 65C40

description: We introduce a new framework for efficient sampling from complex probability distributions, using a combination of optimal transport maps and the Metropolis-Hastings rule. The core idea is to use continuous transportation to transform typical Metropolis proposal mechanisms (e.g., random walks, Langevin methods) into non-Gaussian proposal distributions that can more effectively explore the target density. Our approach adaptively constructs a lower triangular transport map-an approximation of the Knothe-Rosenblatt rearrangement-using information from previous MCMC states, via the solution of an optimization problem. This optimization problem is convex regardless of the form of the target distribution. It is solved efficiently using a Newton method that requires no gradient information from the target probability distribution; the target distribution is instead represented via samples. Sequential updates enable efficient and parallelizable adaptation of the map even for large numbers of samples. We show that this approach uses inexact or truncated maps to produce an adaptive MCMC algorithm that is ergodic for the exact target distribution. Numerical demonstrations on a range of parameter inference problems show order-of-magnitude speedups over standard MCMC techniques, measured by the number of effectively independent samples produced per target density evaluation and per unit of wallclock time.
A speech measure for early stratification of fast and slow progressors of bulbar amyotrophic lateral sclerosis: lip movement jitter
Creators: name: Rong, Panying
name: Yunusova, Yana
name: Eshghi, Marziye
name: Rowe, Hannah P.
name: Green, Jordan R.
Publisher: name: Taylor & Francis
Year: 2019
Subjects: subject: Space Science
subject: Medicine
subject: Genetics
subject: FOS: Biological sciences
subject: Pharmacology
subject: Sociology
subject: FOS: Sociology
subject: Biological Sciences not elsewhere classified
subject: Virology

description: Objective: To assess the utility of novel measures derived from a rapid syllable repetition task (i.e. oral dysdiadochokinesis [DDK]) in early stratification of fast and slow progressive bulbar amyotrophic lateral sclerosis (ALS) and prediction of bulbar disease progression rate. Methods: Fifty-four individuals with ALS were tracked longitudinally on their oral DDK and global bulbar/speech performance (i.e. bulbar subscore on the ALS Functional Rating Scale-Revised [ALSFRS-R]; articulation rate during passage reading) for a four-month average duration. Based on the bulbar deterioration rate over the tracked period, the participants were stratified as 14 fast bulbar progressors and 40 slow bulbar progressors using a posteriori classification approach. To determine if oral DDK performance predicts the differential bulbar disease progression trajectories in these individuals during the early stages of the tracked period (prior to significant bulbar/speech signs), twenty-two measures of lip motor performance in an oral DDK task were derived to (1) differentiate fast and slow bulbar progressors using the Receiver Operating Characteristic analysis and (2) predict bulbar disease progression rates across all individuals using linear regressions. Results: Movement jitter, a measure of temporal variability of alternating lip movement during DDK, showed 80% sensitivity and 95% specificity in differentiating fast and slow bulbar progressors early in the disease, and outperformed the ALSFRS-R bulbar subscore and articulation rate. Movement jitter also predicted bulbar disease progression rates across participants. Conclusion: Findings provided preliminary validation of the clinical value of movement jitter during oral DDK in patient stratification and bulbar disease prognosis.
Using ancestry-informative markers to identify fine structure across 15 populations of European origin
Creators: name: Sullivan, Patrick F
name: Tyler-Smith, Chris
name: Tachmazidou, Ioanna
name: Zeggini, Eleftheria
name: Collier, David A
name: Bulik, Cynthia M
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2014

description: The Wellcome Trust Case Control Consortium 3 anorexia nervosa genome-wide association scan includes 2907 cases from 15 different populations of European origin genotyped on the Illumina 670K chip. We compared methods for identifying population stratification, and suggest list of markers that may help to counter this problem. It is usual to identify population structure in such studies using only common variants with minor allele frequency (MAF) >5% we find that this may result in highly informative SNPs being discarded, and suggest that instead all SNPs with MAF >1% may be used. We established informative axes of variation identified via principal component analysis and highlight important features of the genetic structure of diverse European-descent populations, some studied for the first time at this scale. Finally, we investigated the substructure within each of these 15 populations and identified SNPs that help capture hidden stratification. This work can provide information regarding the designing and interpretation of association results in the International Consortia.
Nitrate Reductase Activity in Dental Plaque of Children and Adolescents
Creators: name: Sandhu, Manmit Kaur
Publisher: name: University of Illinois at Chicago
Year: 2022
Subjects: Uncategorized

description: Nitrate Reductase Activity in Dental Plaque of Children and Adolescents, Sandhu MK, Li W, Kratunova E, Xie, Q, Wu CD, (University of Illinois at Chicago, Chicago, IL) Purpose: Nitrate reductase (NR) of oral bacteria metabolizes dietary nitrate to nitrite, which is further reduced to nitric oxide by gut bacteria and absorbed into blood, thus lowering blood pressure and benefiting cardiovascular health. Limited information is available on NR activity in children. The null hypothesis is that there is no difference in NR activity in dental plaque between children with primary dentition and children with permanent dentition. This study evaluates and compares dental plaque NR activity between children with complete primary dentition and children with complete permanent dentition. Methods: Thirty-four healthy participants (3-15 years old) with primary (N=15) and permanent (N=19) dentitions were enrolled in the study according to specified criteria. One investigator completed dental examination for all participants and collected supragingival plaque from buccal and lingual surfaces of maxillary and mandibular first and second (primary/permanent) molars. Participants’ body mass index (BMI) were recorded. NR activity in plaque samples was assayed using the Griess reagent. Comparison of NR activity between the two groups was performed using the two-sample t-test. Results: NR activity was detected in plaque samples of all participants. However, no statistically significant difference was noted in NR activity between the primary dentition and permanent dentition groups (P=.089). BMI was found to be weakly associated with nitrate reductase activity (R=.384; P=0.027.). Conclusion: While the health benefit of nitrate reductase in children’s oral cavity is not clear, NR activity was detected in children’s dental plaque. Studies regarding the association and contribution of specific microflora and NR activity are warranted.
Combining Machine Learning and Many-Body Calculations: Coverage-Dependent Adsorption of CO on Rh(111)
Creators: name: Liu, Peitao
name: Wang, Jiantao
name: Avargues, Noah
name: Verdi, Carla
name: Singraber, Andreas
name: Karsai, Ferenc
name: Chen, Xing-Qiu
name: Kresse, Georg
Publisher: name: arXiv
Year: 2022
Subjects: subject: Materials Science (cond-mat.mtrl-sci)
subject: FOS: Physical sciences

description: Adsorption of carbon monoxide (CO) on transition-metal surfaces is a prototypical process in surface sciences and catalysis. Despite its simplicity, it has posed great challenges to theoretical modeling. Pretty much all existing density functionals fail to accurately describe surface energies, CO adsorption site preference, as well as adsorption energies simultaneously. Although the random phase approximation (RPA) cures these density functional theory failures, its large computational cost makes it prohibitive to study the CO adsorption for any but the simplest ordered cases. Here, we address these challenges by developing a machine-learned force field (MLFF) with near RPA accuracy for the prediction of coverage-dependent adsorption of CO on the Rh(111) surface through an efficient on-the-fly active learning procedure and a $Δ$-machine learning approach. We show that the RPA-derived MLFF is capable to accurately predict the Rh(111) surface energy, CO adsorption site preference as well as adsorption energies at different coverages that are all in good agreement with experiments. Moreover, the coverage-dependent ground-state adsorption patterns and adsorption saturation coverage are identified.
description: 6 pages, 2 figures
Basics of Low-temperature Refrigeration
Creators: name: Alekseev, A.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Accelerator Physics (physics.acc-ph)
subject: Instrumentation and Detectors (physics.ins-det)
subject: FOS: Physical sciences

description: This chapter gives an overview of the principles of low temperature refrigeration and the thermodynamics behind it. Basic cryogenic processes - Joule-Thomoson process, Brayton process as well as Claude process - are described and compared. A typical helium laboratory refrigerator based on Claude process is used as a typical example of a low-temperature refrigeration system. A description of the hardware components for helium liquefaction is an important part of this paper, because the design of the main hardware components (compressors, turbines, heat exchangers, pumps, adsorbers, etc.) provides the input for cost calculation, as well as enables to estimate the reliability of the plant and the maintenance expenses. All these numbers are necessary to calculate the economics of a low temperature application.
description: 20 pages, contribution to the CAS-CERN Accelerator School: Superconductivity for Accelerators, Erice, Italy, 24 April - 4 May 2013, edited by R. Bailey
Adaptively restarted block Krylov subspace methods with low-synchronization skeletons
Creators: name: Lund, Kathryn
Publisher: name: arXiv
Year: 2022
Subjects: subject: Numerical Analysis (math.NA)
subject: FOS: Mathematics
subject: 65F10, 65F25, 65F50, 15-04

description: With the recent realization of exascale performace by Oak Ridge National Laboratory's Frontier supercomputer, reducing communication in kernels like QR factorization has become even more imperative. Low-synchronization Gram-Schmidt methods, first introduced in [K. Świrydowicz, J. Langou, S. Ananthan, U. Yang, and S. Thomas, Low Synchronization Gram-Schmidt and Generalized Minimum Residual Algorithms, Numer. Lin. Alg. Appl., Vol. 28(2), e2343, 2020], have been shown to improve the scalability of the Arnoldi method in high-performance distributed computing. Block versions of low-synchronization Gram-Schmidt show further potential for speeding up algorithms, as column-batching allows for maximizing cache usage with matrix-matrix operations. In this work, low-synchronization block Gram-Schmidt variants from [E. Carson, K. Lund, M. Rozložník, and S. Thomas, Block Gram-Schmidt algorithms and their stability properties, Lin. Alg. Appl., 638, pp. 150--195, 2022] are transformed into block Arnoldi variants for use in block full orthogonalization methods (BFOM) and block generalized minimal residual methods (BGMRES). An adaptive restarting heuristic is developed to handle instabilities that arise with the increasing condition number of the Krylov basis. The performance, accuracy, and stability of these methods are assessed via a flexible benchmarking tool written in MATLAB. The modularity of the tool additionally permits generalized block inner products, like the global inner product.
Instability in linear cooperative systems of ordinary differential equations
Creators: name: Mierczyński, Janusz
Publisher: name: arXiv
Year: 2014
Subjects: subject: Classical Analysis and ODEs (math.CA)
subject: FOS: Mathematics
subject: 34C12, 34D99, 34A26, 34A40

description: It is well known that, contrary to the autonomous case, the stability/instability of solutions of nonautonomous linear ordinary differential equations $x' = A(t) x$ is in no relation to the sign of the real parts of the eigenvalues of $A(t)$. In particular, the real parts of all eigenvalues can be negative and bounded away from zero, nonetheless there is a solution of magnitude growing to infinity. In this paper we present a method of constructing examples of such systems when the matrices $A(t)$ have positive off-diagonal entries (strongly cooperative systems). We illustrate those examples both with interactive animations and analytically. The paper is written in such a way that it can be accessible to students with diverse mathematical backgrounds/skills.
description: 25 pages. The author's final version (before copyediting) of a paper published in SIAM Review, with some supplementary files (mainly Wolfram Notebook files and animations) added
Gate-defined Two-dimensional Hole and Electron Systems in an Undoped InSb Quantum Well
Creators: name: Lei, Zijin
name: Cheah, Erik
name: Krizek, Filip
name: Schott, Rüdiger
name: Bähler, Thomas
name: Märki, Peter
name: Wegscheider, Werner
name: Shayegan, Mansour
name: Ihn, Thomas
name: Ensslin, Klaus
Publisher: name: arXiv
Year: 2022
Subjects: subject: Mesoscale and Nanoscale Physics (cond-mat.mes-hall)
subject: Materials Science (cond-mat.mtrl-sci)
subject: FOS: Physical sciences

description: Quantum transport measurements are performed in gate-defined, high-quality, two-dimensional hole and electron systems in an undoped InSb quantum well. For both polarities, the carrier systems show tunable spin-orbit interaction as extracted from weak anti-localization measurements. The effective mass of InSb holes strongly increases with carrier density as determined from the temperature dependence of Shubnikov-de Haas oscillations. Coincidence measurements in a tilted magnetic field are performed to estimate the spin susceptibility of the InSb two-dimensional hole system. The g-factor of the two-dimensional hole system decreases rapidly with increasing carrier density.
description: 10 pages, 7 figures
Is the incidence of motor neuron disease higher in French military personnel?
Creators: name: Vlaar, Tim
name: Elbaz, Alexis
name: Moisan, Frédéric
Publisher: name: Taylor & Francis
Year: 2019
Subjects: Medicine
Biotechnology
Environmental Sciences not elsewhere classified
Mathematical Sciences not elsewhere classified
Cancer
Mental Health
Computational Biology

description: Objective: Previous studies, mostly from the United States, showed an increased risk of motor neuron disease (MND) in military personnel. We compared MND incidence rates in French military personnel to that in the general population. Methods: Among persons covered between 2010 and 2016 by the Caisse Nationale Militaire de Sécurité Sociale (CNMSS, military personnel) and the Caisse Nationale d’Assurance Maladie des Travailleurs Salariés (CNAMTS, general population) aged ≥50 years, we identified incident MND cases and estimated populations at risk using national health insurance databases. We estimated relative risks (RRs) and 95% confidence intervals (CIs) separately for men and women using age-adjusted Poisson regression. Analyses were also stratified by 10-year age groups. We used the E-value approach and probabilistic bias analysis to assess robustness of the results regarding unmeasured confounding by smoking. Results: On average, 25 cases/year were newly diagnosed with MND among military personnel aged ≥50 years. The incidence rate was higher for male military personnel compared to the general population (RR = 1.16; 95% CI = 1.05–1.29) but was similar for women (RR = 1.02; 95% CI = 0.79–1.31). Although there were no significant interactions with age and sex, the association was mainly explained by men aged 70–79 years. The prevalence of ever-smoking should be at least 1.1-fold higher in male CNMSS compared to male CNAMTS members to make the association in male military personnel not significant. Conclusion: MND incidence was 16% higher in French male military personnel, in agreement with studies from other countries. Smoking may contribute to this finding. Further studies are needed to identify exposures that drive this association.
Supersymmetric Higgs-portal and X-ray lines
Creators: name: Lee, Hyun Min
name: Park, Chan Beom
name: Park, Myeonghun
Publisher: name: arXiv
Year: 2015
Subjects: subject: High Energy Physics - Phenomenology (hep-ph)
subject: FOS: Physical sciences

description: We consider a Dirac singlet fermion as thermal dark matter for explaining the X-ray line in the context of a supersymmetric Higgs-portal model or a generalized Dirac NMSSM. The Dirac singlet fermion gets a mass splitting due to their Yukawa couplings to two Higgs doublets and their superpartners, Higgsinos, after electroweak symmetry breaking. We show that a correct relic density can be obtained from thermal freeze-out, due to the co-annihilation with Higgsinos for the same Yukawa couplings. We discuss the phenomenology of the Higgsinos in this model such as displaced vertices at the LHC.
description: 15 pages, 4 figures, references added
สื่อผสมวัจนภาษาของเด็กไทย: กรณีศึกษาเชิงพัฒนาการต่อเนื่องในเด็กไทยวัย 2-6 ปี
Creators: name: สุธาสินี ปิยพสุนทรา
Publisher: name: คณะศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์
Year: 2018
Subjects: สื่อผสมวัจนภาษา
พัฒนาการทางภาษาของเด็กไทยปฐมวัย

description: วารสารศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์, 18, 2, 55-73
Mesoscopic Josephson junctions with switchable current-phase relation
Creators: name: Strambini, E.
name: Bergeret, F. S.
name: Giazotto, F.
Publisher: name: arXiv
Year: 2014
Subjects: subject: Mesoscale and Nanoscale Physics (cond-mat.mes-hall)
subject: Superconductivity (cond-mat.supr-con)
subject: FOS: Physical sciences

description: We propose and analyze a mesoscopic Josephson junction consisting of two ferromagnetic insulator-superconductors (FI-Ss) coupled through a normal metal (N) layer. The Josephson current of the junction is non-trivially affected by the spin-splitting field induced by the FIs in the two superconductors. In particular, it shows sizeable enhancement by increasing the amplitude of the exchange field ($h_{ex}$) and displays a switchable current-phase relation which depends on the relative orientation of $h_{ex}$ in the FIs. In a realistic EuS/Al-based setup this junction can be exploited as a high-resolution threshold sensor for the magnetic field as well as an on-demand tunable kinetic inductor.
description: 4.5 pages, 5 color figures
ภาพเหมารวมทางเพศของหมอนวดแผนไทยหญิง: กรณีศึกษา ร้านนวดแผนไทย เขตเมืองพัทยา จังหวัดชลบุรี
Creators: name: ปพิชญา อุปถัมภากุล
Publisher: name: คณะศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์
Year: 2018
Subjects: ภาพเหมารวมทางเพศ
หมอนวดแผนไทย
นวดแผนไทย
เขตเมืองพัทยา

description: วารสารศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์, 18, 2, 74-102
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia
Creators: name: Moran, Jennifer L
name: McCarroll, Steven A
name: Holmans, Peter
name: Hultman, Christina M
name: Genovese, Giulio
name: Lim, Elaine T
name: Ruderfer, Douglas M
name: Purcell, Shaun M
name: Sullivan, Patrick F
name: Sklar, Pamela
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2015

description: Recessive inheritance of gene disrupting alleles, either through homozygosity at a specific site or compound heterozygosity, have been demonstrated to underlie many Mendelian diseases and some complex psychiatric disorders. On the basis of exome sequencing data, an increased burden of complete knockout (homozygous or compound heterozygous) variants has been identified in autism. In addition, using single-nucleotide polymorphism microarray data, an increased rate of homozygosity by descent, or autozygosity, has been linked to the risk of schizophrenia (SCZ). Here, in a large Swedish case-control SCZ sample (11 244 individuals, 5079 of whom have exome sequence data available), we survey the contribution of both autozygosity and complete knockouts to disease risk. We do not find evidence for association with SCZ, either genome wide or at specific loci. However, we note the possible impact of sample size and population genetic factors on the power to detect and quantify any burden that may exist.
ทัศนคติของคนวัยหนุ่มสาวที่มีต่อเสียงพูดของเกย์ไทย: การศึกษาการรับรู้เชิงสัทศาสตร์สังคม
Creators: name: วริษา โอสถานนท์
Publisher: name: คณะศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์
Year: 2018
Subjects: ภาษากับเพศ
สัทศาสตร์เชิงสังคม
การประเมินเสียงพูด
เสียงพูดของเกย์ไทย

description: วารสารศิลปศาสตร์ มหาวิทยาลัยธรรมศาสตร์, 18, 2, 103-133
FIP Bias Evolution in a Decaying Active Region
Creators: name: Baker, D.
name: Brooks, D. H.
name: Démoulin, P.
name: Yardley, S. L.
name: van Driel-Gesztelyi, L.
name: Long, D. M.
name: Green, L. M.
Publisher: name: arXiv
Year: 2015
Subjects: subject: Solar and Stellar Astrophysics (astro-ph.SR)
subject: FOS: Physical sciences

description: Solar coronal plasma composition is typically characterized by first ionization potential (FIP) bias. Using spectra obtained by Hinode's EUV Imaging Spectrometer (EIS) instrument, we present a series of large-scale, spatially resolved composition maps of active region (AR) 11389. The composition maps show how FIP bias evolves within the decaying AR from 2012 January 4-6. Globally, FIP bias decreases throughout the AR. We analyzed areas of significant plasma composition changes within the decaying AR and found that small-scale evolution in the photospheric magnetic field is closely linked to the FIP bias evolution observed in the corona. During the AR's decay phase, small bipoles emerging within supergranular cells reconnect with the pre-existing AR field, creating a pathway along which photospheric and coronal plasmas can mix. The mixing time scales are shorter than those of plasma enrichment processes. Eruptive activity also results in shifting the FIP bias closer to photospheric in the affected areas. Finally, the FIP bias still remains dominantly coronal only in a part of the AR's high-flux density core. We conclude that in the decay phase of an AR's lifetime, the FIP bias is becoming increasingly modulated by episodes of small-scale flux emergence, i.e. decreasing the AR's overall FIP bias. Our results show that magnetic field evolution plays an important role in compositional changes during AR development, revealing a more complex relationship than expected from previous well-known Skylab results showing that FIP bias increases almost linearly with age in young ARs (Widing $\&$ Feldman, 2001, ApJ, 555, 426).