bluuebunny/crossref_metadata_2025_split huggingface dataset:
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
Authors: Andreoni Francesca , Sgattoni Claudia , Bencardino Daniela , Simonetti Oriana , Forabosco Antonino , Magnani Mauro 
Published: November 2020

AbstractBackgroundHypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and EDARADD responsible for the development of ectodermal‐derived structures. HED displays different modes of inheritance according to the gene that is involved, with X‐linked EDA‐related HED being the most frequent form of the disease.MethodsTwo families with tooth agenesis and manifestations of HED underwent clinical examination and EDA, EDAR, and EDARADD genetic analysis. The impact of the novel variant on the protein was evaluated through bioinformatics tools, whereas molecular modeling was used to predict the effect on the protein structure.ResultsA novel missense variant was identified in the EDAR (c.287T>C, p.Phe96Ser) of a female child proband and her mother, accounting for autosomal dominant HED. The genetic variant c.866G>A (p.Arg289His) in EDA, which has been previously described, was observed in the male proband of another family confirming its role in X‐linked HED. The inheritance model of the missense mutation showed a different relationship with X‐linked HED and non‐syndromic tooth agenesis.ConclusionOur findings provide evidence of variable expression of HED in heterozygous females, which should be considered for genetic counseling, and different modes of inheritance related to tooth development.
Walking activity in a large cohort of boys with Duchenne muscular dystrophy
Authors: Lott Donovan J. , Taivassalo Tanja , Senesac Claudia R. , Willcocks Rebecca J. , Harrington Ann M. , Zilke Kirsten , Cunkle Hilary , Powers Catherine , Finanger Erika L. , Rooney William D. , Tennekoon Gihan I. , Vandenborne Krista 
Published: November 2020

AbstractIntroductionIn this study we explored walking activity in a large cohort of boys with Duchenne muscular dystrophy (DMD).MethodsStep activity (monitored for 7 days), functional ability, and strength were quantified in ambulatory boys (5‐12.9 years of age) with DMD and unaffected boys. Ambulatory status was determined 2 years later.ResultsTwo to 5 days of activity monitoring predicted weekly step activity (adjusted R2 = 0.80‐0.95). Age comparisons revealed significant declines for step activity with increasing age, and relationships were found between step activity with both function and strength (P < .01). Our regression model predicted 36.5% of the variance in step activity. Those who were still ambulatory after 2 years demonstrated baseline step activity nearly double that of those who were no longer walking 2 years later (P < .01).DiscussionStep activity for DMD is related to and predictive of functional declines, which may be useful for clinical trials.
Degrees earned by faculty teaching in soil science preparatory programs at universities in the USA
Authors: Brevik Eric C. , Vaughan Karen 
Published: November 2020

AbstractIn the early 2000s some were concerned that few soil science graduate students were receiving their bachelor's degrees in soil science. However, no studies were conducted to investigate this or how it may have changed over time. Information available on university webpages for faculty in the United States was used to determine the faculty's bachelor's, master's, and doctoral degree disciplines. Faculty rank was used to determine if a change had occurred in the percentage of faculty who received their bachelor's degrees in soil science over time. Only 16% of faculty teaching in programs that prepare graduates to work as soil scientists received their bachelor's degrees in soil science. This percentage increased to 56 and 67% who received their master's and doctoral degrees, respectively, in soil science, but about 26% of faculty who teach in soil science preparatory programs did not have any degrees that could be identified as a “soil science” degree. The degrees that faculty received their training in also differed by their current soil science specialty area. About 13% of assistant professors and 20% of full professors received their bachelor's degrees in soil science, so the percentage of students entering soil science graduate programs with a bachelor's degree in soil science appears to have declined with time. However, a majority of soil science graduate students having bachelor's degrees from other fields also appears to have been common going back at least several decades.
Linking student self‐regulated learning profiles to achievement and engagement in mathematics
Authors: Cleary Timothy J. , Slemp Jacqueline , Pawlo Erica R. 
Published: November 2020

AbstractThe current study identified self‐regulated learning (SRL) profiles of middle school students and examined differences among these profiles across classroom engagement and mathematics achievement outcomes. Using student motivational, regulatory, and contextual variables, cluster analysis revealed a four‐factor solution as most interpretable. The four clusters varied across two dimensions (i.e., SRL and perceived contextual supports) and levels (i.e., high and low). Students who reported strong SRL skills displayed the most adaptive outcomes, in terms of both classroom engagement and mathematics achievement. The least adaptive profile included students who reported poor SRL skills and who exhibited a weak connection to school and perceived support from teachers. This latter cluster displayed statistically significant lower standardized mathematics achievement scores than all other clusters. Implications and directions for future research are emphasized.
Permafrost warming near the northern limit of permafrost on the Qinghai–Tibetan Plateau during the period from 2005 to 2017: A case study in the Xidatan area
Authors: Liu Guangyue , Xie Changwei , Zhao Lin , Xiao Yao , Wu Tonghua , Wang Wu , Liu Wenhui 
Published: November 2020

AbstractPermafrost that exists near the boundary of the permafrost zone is generally more sensitive to climate change. By analyzing ground temperatures observed from two 30‐m‐deep boreholes, a case study was conducted to present some characteristics of recent permafrost warming in the Xidatan area, near the northern limit of the permafrost zone on the Qinghai–Tibetan Plateau. The rate of permafrost degradation from top to bottom in the area was far less than that from bottom to top. Local conditions produced spatial differences in permafrost characteristics, and thus the site covered by alpine meadow had a thinner active layer and lower rate of change than the site with desert steppe. With permafrost warming, the depths of zero annual amplitude at the two sites showed significant decreasing trends, suggesting that the warming could change the proportion of unfrozen water and ice in permafrost, and then lead to a decrease in the mean thermal diffusivity of formation. Mean annual permafrost temperatures at depth of zero annual amplitude of the two boreholes were respectively −0.4°C and −0.7°C, indicating that high‐temperature permafrost is widely distributed in the study area. The lower temperature permafrost had a higher warming rate and a higher upward shift rate of the permafrost base. The pattern of permafrost degradation near the limit of permafrost was characterized by nonuniform speed and staged development.
Separation and characterization of impurities and isomers in cefpirome sulfate by liquid chromatography/tandem mass spectrometry and a summary of the fragmentation pathways of oxime‐type cephalosporins
Authors: Ren Xiaojuan , Zhou Jinjin , Wang Jian 
Published: November 2020

RationaleAlthough the identification of degradation products of cefpirome sulfate has been reported, there has been no report concerning the impurities in bulk samples of this compound. To meet the requirements of the International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use, the structures of impurities whose content are over 0.1% need to be confirmed. Thus, characterization of the impurities in cefpirome sulfate bulk samples is critical for controlling the production of this drug.MethodsThe structures of cefpirome sulfate impurities were investigated using two‐dimensional liquid chromatography (LC) coupled to electrospray ionization tandem mass spectrometry. In the first LC dimension, a Kromasil 100‐5C18 column (4.6 mm × 250 mm, 5 μm) was used, and the mobile phases were 0.03 M ammonium dihydrogen phosphate solution and acetonitrile. In the second dimension, the column was a Shimadzu Shim‐pack GISS C18 column (50 mm × 2.1 mm, 1.9 μm), and the mobile phases were 10 mM ammonium formate solution and methanol. An ion trap time‐of‐flight mass spectrometer operated in both positive and negative ion mode was employed in this study.ResultsNine impurities and isomers in cefpirome sulfate, eight of which were previously unknown, were separated and characterized. Structures were proposed for the eight unknown compounds based on the MSn fragmentation data. The degradation behavior of cefpirome sulfate was also studied.ConclusionsBased on the characterization of impurities and isomers, this study could be used to improve the quality control of the cefpirome sulfate drug recommended in pharmacopoeias. The degradation behavior of cefpirome sulfate provides a basis for the selection of storage conditions.
Extent of absent end‐diastolic flow in umbilical artery and outcome of pregnancy
Authors: Kinoshita M. , Thuring A. , Morsing E. , Maršál K. 
Published: November 2020

ABSTRACTObjectiveTo investigate if the extent of absent end‐diastolic flow (AEDF) on umbilical artery (UA) Doppler velocimetry predicts pregnancy outcome.MethodsThis was a retrospective observational study based on data from 25 000 Doppler examinations of UA flow performed between 1998 and 2017 at the Blood Flow Laboratory, Level III Perinatal Center, Lund, Sweden. All pregnancies with AEDF in the UA were identified, and the duration of AEDF as a proportion of the total duration of the cardiac cycle (Ta/Ttot ratio) was measured in digital images of the Doppler spectrum recorded at the last examination showing AEDF before delivery. Clinical data on pregnancies and neonatal outcomes were extracted from the regional perinatal database and the hospital patient records. The predictive performance of the Ta/Ttot ratio for intrauterine death and any (intrauterine or postnatal) death was assessed.ResultsA total of 170 fetuses (122 (72%) singletons and 48 (28%) twins) were included in the study. Median gestational age at birth was 189.5 days (range, 163–279 days) (i.e. 27 + 0 weeks (range, 23 + 2 to 39 + 6 weeks)), birth weight was 650 g (range, 320–3326 g) and deviation from expected birth weight (standard deviation score) was –2.975 (range, –6.38 to 0.69). There were 15 (9%) intrauterine and 26 (15%) postnatal deaths. The principal outcome variables and their relationship with Doppler velocimetry results did not differ significantly between singletons and twins, giving a rationale for using the Ta/Ttot ratio in the total study group. Mean Ta/Ttot ratio was 0.42 ± 0.08 and 0.34 ± 0.08 in stillborn and liveborn fetuses, respectively (P = 0.002). For fetuses examined before 30 weeks' gestation, a Ta/Ttot ratio cut‐off of 0.30 predicted intrauterine death with 92% sensitivity and a negative predictive value (NPV) of 98% (area under receiver‐operating‐characteristics curve (AUC), 0.74) and predicted any death with 83% sensitivity and a NPV of 85% (AUC, 0.66).ConclusionsIn fetuses with AEDF in the UA, duration of absent flow for at least 30% of the total cardiac cycle length might predict the risk of fetal demise, even when assessed before 30 weeks' gestation. This finding is particularly relevant to growth‐restricted fetuses. After evaluation in further studies, the extent of AEDF might facilitate obstetric decision‐making in very preterm growth‐restricted fetuses. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Ultrasound imaging of slings and meshes in urogynecology
Authors: Shek K. L. , Dietz H. P. 
Published: November 2020

ABSTRACTImaging is used increasingly in urogynecology. One of the main applications is in the assessment of synthetic implants. Ultrasound is particularly useful for this purpose as most such implants appear highly echogenic on ultrasound but are not visible using other imaging techniques. The worldwide success of synthetic mid‐urethral slings, introduced in the late 90s, led to the subsequent introduction of transvaginal mesh in 2003–2004. Widespread use of synthetic implants for both urinary incontinence and prolapse has caused a rise in implant‐related complications and increasing negative publicity and litigation, with many products removed from the market. It is not surprising that there is increasing demand for the assessment and evaluation of sling and mesh implants using imaging. This review article discusses the role of translabial/transperineal ultrasound in the evaluation of synthetic implants used in the treatment of urinary incontinence and pelvic organ prolapse. The discussion focuses on those applications of the technique that are useful for surgeons dealing with patients after mesh and/or sling placement. © 2020 International Society of Ultrasound in Obstetrics and Gynecology
Reframing spatial frames of reference: What can aging tell us about egocentric and allocentric navigation?
Authors: Ladyka‐Wojcik Natalia , Barense Morgan D. 
Published: November 2020

AbstractRepresentations of space in mind are crucial for navigation, facilitating processes such as remembering landmark locations, understanding spatial relationships between objects, and integrating routes. A significant problem, however, is the lack of consensus on how these representations are encoded and stored in memory. Specifically, the nature of egocentric and allocentric frames of reference in human memory is widely debated. Yet, in recent investigations of the spatial domain across the lifespan, these distinctions in mnemonic spatial frames of reference have identified age‐related impairments. In this review, we survey the ways in which different terms related to spatial representations in memory have been operationalized in past aging research and suggest a taxonomy to provide a common language for future investigations and theoretical discussion.This article is categorized under:
Psychology > Memory
Neuroscience > Cognition
Psychology > Development and Aging
Warped flatland
Authors: Detournay Stéphane , Merbis Wout , Ng Gim Seng , Wutte Raphaela 
Published: November 2020

Abstract
We study warped flat geometries in three-dimensional topologically massive gravity. They are quotients of global warped flat spacetime, whose isometries are given by the 2-dimensional centrally extended Poincaré algebra. The latter can be obtained as a certain scaling limit of Warped AdS3 space with a positive cosmological constant. We discuss the causal structure of the resulting spacetimes using projection diagrams. We study their charges and thermodynamics, together with asymptotic Killing vectors preserving a consistent set of boundary conditions including them. The asymptotic symmetry group is given by a Warped CFT algebra, with a vanishing current level. A generalization of the derivation of the Warped CFT Cardy formula applies in this case, reproducing the entropy of the warped flat cosmological spacetimes.
Giant Wilson loops and AdS2/dCFT1
Authors: Giombi Simone , Jiang Jiaqi , Komatsu Shota 
Published: November 2020

AbstractThe 1/2-BPS Wilson loop in$$ \mathcal{N} $$N= 4 supersymmetric Yang-Mills theory is an important and well-studied example of conformal defect. In particular, much work has been done for the correlation functions of operator insertions on the Wilson loop in the fundamental representation. In this paper, we extend such analyses to Wilson loops in the large-rank symmetric and antisymmetric representations, which correspond to probe D3 and D5 branes withAdS2× S2andAdS2× S4worldvolume geometries, ending at theAdS5boundary along a one-dimensional contour. We first compute the correlation functions of protected scalar insertions from supersymmetric localization, and obtain a representation in terms of multiple integrals that are similar to the eigenvalue integrals of the random matrix, but with important differences. Using ideas from the Fermi Gas formalism and the Clustering method, we evaluate their largeNlimit exactly as a function of the ’t Hooft coupling. The results are given by simple integrals of polynomials that resemble theQ-functions of the Quantum Spectral Curve, with integration measures depending on the number of insertions. Next, we study the correlation functions of fluctuations on the probe D3 and D5 branes in AdS. We compute a selection of three- and four-point functions from perturbation theory on the D-branes, and show that they agree with the results of localization when restricted to supersymmetric kinematics. We also explain how the difference of the internal geometries of the D3 and D5 branes manifests itself in the localization computation.
Enhancing sensitivities to long-lived particles with high granularity calorimeters at the LHC
Authors: Liu Jia , Liu Zhen , Wang Lian-Tao , Wang Xiao-Ping 
Published: November 2020

Abstract
The search for long-lived particles (LLP) is an exciting physics opportunity in the upcoming runs of the Large Hadron Collider. In this paper, we focus on a new search strategy of using the High Granularity Calorimeter (HGCAL), part of the upgrade of the CMS detector, in such searches. In particular, we demonstrate that the high granularity of the calorimeter allows us to see “shower tracks” in the calorimeter, and can play a crucial role in identifying the signal and suppressing the background. We study the potential reach of the HGCAL using a signal model in which the Standard Model Higgs boson decays into a pair of LLPs, h → XX. After carefully estimating the Standard Model QCD and the misreconstructed fake-track backgrounds, we give the projected reach for both an existing vector boson fusion trigger and a novel displaced-track-based trigger. Our results show that the best reach for the Higgs decay branching ratio, BR(h → XX), in the vector boson fusion channel is about $$ \mathcal{O} $$
O
(10−4) with lifetime cτX ∼ 0.1–1 meters, while for the gluon gluon fusion channel it is about $$ \mathcal{O} $$
O
(10−5–10−6) for similar lifetimes. For longer lifetime cτX ∼ 103 meters, our search could probe BR(h → XX) down to a few ×10−4(10−2) in the gluon gluon fusion (vector boson fusion) channels, respectively. In comparison with these previous searches, our new search shows enhanced sensitivity in complementary regions of the LLP parameter space. We also comment on many improvements can be implemented to further improve our proposed search.
Gauges in three-dimensional gravity and holographic fluids
Authors: Ciambelli Luca , Marteau Charles , Petropoulos P. Marios , Ruzziconi Romain 
Published: November 2020

AbstractSolutions to Einstein’s vacuum equations in three dimensions are locally maximally symmetric. They are distinguished by their global properties and their investigation often requires a choice of gauge. Although analyses of this sort have been performed abundantly, several relevant questions remain. These questions include the interplay between the standard Bondi gauge and the Eddington-Finkelstein type of gauge used in the fluid/gravity holographic reconstruction of these spacetimes, as well as the Fefferman-Graham gauge, when available i.e. in anti de Sitter. The goal of the present work is to set up a thorough dictionary for the available descriptions with emphasis on the relativistic or Carrollian holographic fluids, which portray the bulk from the boundary in anti-de Sitter or flat instances. A complete presentation of residual diffeomorphisms with a preliminary study of their algebra accompanies the situations addressed here.
Medikamentöse Sekundärprävention bei Patienten mit peripherer arterieller Verschlusskrankheit
Authors: Gebauer Katrin , Wintersohl Kerstin , Kraska Rike , Kortendick Katja , Fahrland Ulrike , Freisinger Eva , Meyborg Matthias , Stella Jacqueline , Engelbertz Christiane , Reinecke Holger , Malyar Nasser 
Published: November 2020

Zusammenfassung
Hintergrund
Die periphere arterielle Verschlusskrankheit (pAVK) ist eine atherosklerotische Gefäßerkrankung mit hoher Morbidität und Mortalität. Eine konsequente medikamentöse Sekundärprävention gehört zur essenziellen und evidenzbasierten Therapie der pAVK. Das Ziel der vorliegenden Studie war es, den Status quo der medikamentösen Sekundärprävention anhand von Rezepteinlösungen zu ermitteln.

Methoden
Basierend auf Sekundärdaten der Kassenärztlichen Vereinigung Westfalen-Lippe (KVWL), wurden im Zeitraum von 2014 bis 2017 Patienten mit einer gesicherten pAVK-Kodierung (I70.2-/I73.9-) identifiziert und deren Rezepteinlösung bezüglich Thrombozytenaggregationshemmern (TAH), oralen Antikoagulanzien, lipidmodifizierender Medikation (LLT) sowie ACE(„angiotensin-converting enzyme“)-Hemmer im 4. Quartal nach der Diagnosekodierung erfasst.

Ergebnisse
Im Diagnosezeitraum 2014/2015 hatten im Einzugsgebiet KVWL 238.397 Patienten eine pAVK. Der Anteil an eingelösten Rezepten betrug im 4. Quartal nach der Diagnosestellung 25,9 % für LLT, 13,6 % für Acetylsalicylsäure, 4,5 % für Clopidogrel, 5,5 % für Vitamin-K-Antagonisten (VKA), 3,5 % für nicht-Vitamin-K-abhängige orale Antikoagulanzien (NOAK) und 26,8 % für ACE-Hemmer. Im Verlauf von 3 Jahren (n = 241.375 Patienten mit pAVK 2016/2017) stieg der Anteil an eingelösten Rezepten bis auf VKA für alle anderen Substanzen an (p < 0,001), wobei der größte relative Anstieg bei NOAK zu verzeichnen war (relativer Anstieg um 81,7 %).

Schlussfolgerung
Die leitliniengerechte medikamentöse Sekundärprävention bei pAVK-Patienten in Deutschland ist weiterhin verbesserungswürdig. Eine konsequente Umsetzung evidenzbasierter medikamentöser Sekundärprävention beherbergt ein großes Potenzial zur Verbesserung der Gesamtprognose der pAVK-Patienten.