bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting
Authors: Westenius E. , Sahlin E. , Conner P. , Lindstrand A. , Iwarsson E. 
Published: April 2022

ABSTRACTObjectiveTo investigate the diagnostic yield of clinical whole‐genome sequencing (WGS) in prenatally diagnosed non‐immune hydrops fetalis (NIHF).MethodsThis was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy‐number variants, referred for analysis by WGS with an in‐silico panel of 281 genes associated with hydrops fetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy‐number variants and had not undergone WGS.ResultsOf the 23 fetuses in the main cohort, a molecular diagnosis was achieved in 12 (52.2%). Pathogenic or likely pathogenic variants were identified in seven genes: HRAS (n = 5), RIT1 (n = 2), FOXP3 (n = 1), GLB1 (n = 1), MAP2K1 (n = 1), PTPN11 (n = 1) and RASA1 (n = 1). The inheritance pattern of the 12 causative variants was autosomal dominant in 10 cases (HRAS, MAP2K1, PTPN11, RASA1, RIT1), autosomal recessive in one (GLB1) and X‐linked recessive in one (FOXP3). Of the 24 fetuses in the replication cohort, a pathogenic variant in HRAS was identified in one, resulting in an overall frequency of causative HRAS variants of 12.8% (6/47) in our two cohorts.ConclusionsWe demonstrate a diagnostic yield of 52% with clinical WGS in NIHF using an in‐silico panel of 281 genes. However, the high diagnostic yield may be attributed to the small sample size and possible over‐representation of severe phenotypes in the included fetuses. Bearing in mind that chromosomal abnormalities were excluded in our cohorts, a detection rate of up to 75% is possible in prenatally diagnosed NIHF when WGS analysis includes calling of chromosomal aberrations. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Informal Learning in Digital Contexts
Authors: Dron Jon , Anderson Terry 
Published: April 2022

AbstractGovernments, business leaders, educators, students, and parents realize the need to inculcate a culture of lifelong learning – learning that spans geography, time, and lifespan. This learning has both formal and informal components. In this chapter, we examine the conceptual basis upon which informal learning is defined and some of the tools and techniques used to support informal learning. We overview the rapid development in information and communications technologies that not only creates opportunities for learners, teachers, and researchers but also challenges us to create equitable and culturally appropriate tools and contexts in which high-quality, continuous learning is available to all.
Pedagogical Paradigms in Open and Distance Education
Authors: Dron Jon , Anderson Terry 
Published: April 2022

AbstractBuilding on earlier work that identified historical paradigm shifts in open and distance learning, this chapter is concerned with analyzing the three broad pedagogical paradigms – objectivist, subjectivist, and complexivist – that have characterized learning and teaching in the field over the past half century. It goes on to discuss new paradigms that are starting to emerge, most notably in “theory-free” models enabled by developments in artificial intelligence and analytics, hologogic methods that recognize the many cultures to which we belong, and a “bricolagogic,” theory-agnostic paradigm that reflects the field’s growing maturity and depth.
Analytic resurgence in the O(4) model
Authors: Bajnok Zoltán , Balog János , Vona István 
Published: April 2022

Abstract
We study the perturbative expansion of the ground state energy in the presence of an external field coupled to a conserved charge in the integrable two-dimensional O(4) nonlinear sigma model. By solving Volin’s algebraic equations for the perturbative coefficients we study the large order asymptotic behaviour of the perturbative series analytically. We confirm the previously numerically found leading behaviour and study the nearest singularities of the Borel transformed series and the associated alien derivatives. We find a “resurgence” behaviour: the leading alien derivatives can be expressed in terms of the original perturbative series. A simplified ‘toy’ model is also considered: here the perturbative series can be found in a closed form and the resurgence properties are very similar to that found in the real problem.
Rapid shear stress-dependent ENaC membrane insertion is mediated by the endothelial glycocalyx and the mineralocorticoid receptor
Authors: Cosgun Zülfü C. , Sternak Magdalena , Fels Benedikt , Bar Anna , Kwiatkowski Grzegorz , Pacia Marta Z. , Herrnböck Lisbeth , Lindemann Martina , Stegbauer Johannes , Höges Sascha , Chlopicki Stefan , Kusche-Vihrog Kristina 
Published: April 2022

AbstractThe contribution of the shear stress-sensitive epithelial Na+ channel (ENaC) to the mechanical properties of the endothelial cell surface under (patho)physiological conditions is unclear. This issue was addressed in in vivo and in vitro models for endothelial dysfunction. Cultured human umbilical vein endothelial cells (HUVEC) were exposed to laminar (LSS) or non-laminar shear stress (NLSS). ENaC membrane insertion was quantified using Quantum-dot-based immunofluorescence staining and the mechanical properties of the cell surface were probed with the Atomic Force Microscope (AFM) in vitro and ex vivo in isolated aortae of C57BL/6 and ApoE/LDLR-/- mice. Flow- and acetylcholine-mediated vasodilation was measured in vivo using magnetic resonance imaging. Acute LSS led to a rapid mineralocorticoid receptor (MR)-dependent membrane insertion of ENaC and subsequent stiffening of the endothelial cortex caused by actin polymerization. Of note, NLSS stress further augmented the cortical stiffness of the cells. These effects strongly depend on the presence of the endothelial glycocalyx (eGC) and could be prevented by functional inhibition of ENaC and MR in vitro endothelial cells and ex vivo endothelial cells derived from C57BL/6, but not ApoE/LDLR-/- vessel. In vivo In C57BL/6 vessels, ENaC- and MR inhibition blunted flow- and acetylcholine-mediated vasodilation, while in the dysfunctional ApoE/LDLR-/- vessels, this effect was absent. In conclusion, under physiological conditions, endothelial ENaC, together with the glycocalyx, was identified as an important shear stress sensor and mediator of endothelium-dependent vasodilation. In contrast, in pathophysiological conditions, ENaC-mediated mechanotransduction and endothelium-dependent vasodilation were lost, contributing to sustained endothelial stiffening and dysfunction.
MALL, a membrane-tetra-spanning proteolipid overexpressed in cancer, is present in membraneless nuclear biomolecular condensates
Authors: Rubio-Ramos Armando , Bernabé-Rubio Miguel , Labat-de-Hoz Leticia , Casares-Arias Javier , Kremer Leonor , Correas Isabel , Alonso Miguel A. 
Published: April 2022

AbstractProteolipids are proteins with unusual lipid-like properties. It has long been established that PLP and plasmolipin, which are two unrelated membrane-tetra-spanning myelin proteolipids, can be converted in vitro into a water-soluble form with a distinct conformation, raising the question of whether these, or other similar proteolipids, can adopt two different conformations in the cell to adapt their structure to distinct environments. Here, we show that MALL, another proteolipid with a membrane-tetra-spanning structure, distributes in membranes outside the nucleus and, within the nucleus, in membrane-less, liquid-like PML body biomolecular condensates. Detection of MALL in one or other environment was strictly dependent on the method of cell fixation used, suggesting that MALL adopts different conformations depending on its physical environment —lipidic or aqueous— in the cell. The acquisition of the condensate-compatible conformation requires PML expression. Excess MALL perturbed the distribution of the inner nuclear membrane proteins emerin and LAP2β, and that of the DNA-binding protein BAF, leading to the formation of aberrant nuclei. This effect, which is consistent with studies identifying overexpressed MALL as an unfavorable prognostic factor in cancer, could contribute to cell malignancy. Our study establishes a link between proteolipids, membranes and biomolecular condensates, with potential biomedical implications.
Localisation and Delocalisation for a Simple Quantum Wave Guide with Randomness
Authors: Kirsch Werner , Krishna M. 
Published: April 2022

AbstractIn this paper, we consider Schrödinger operators on $$M\times {\mathbb {Z}}^{d_{2}}$$

M
×

Z

d
2

, with $$M=\{M_{1},\ldots ,M_{2}\}^{d_{1}}$$

M
=

{

M
1

,
…
,

M
2

}

d
1

(‘quantum wave guides’) with a ‘$$\Gamma $$
Γ
-trimmed’ random potential, namely a potential which vanishes outside a subset $$\Gamma $$
Γ
which is periodic with respect to a sub-lattice. We prove that (under appropriate assumptions) for strong disorder these operators have pure point spectrum outside the set $$\Sigma _{0}=\sigma (H_{0,\Gamma ^{c}})$$

Σ
0

=
σ

(

H

0
,

Γ
c

)

where $$H_{0,\Gamma ^{c}} $$

H

0
,

Γ
c

is the free (discrete) Laplacian on the complement $$\Gamma ^{c} $$

Γ
c

of $$\Gamma $$
Γ
. We also prove that the operators have some absolutely continuous spectrum in an energy region $${\mathcal {E}}\subset \Sigma _{0}$$

E
⊂

Σ
0

. Consequently, there is a mobility edge for such models. We also consider the case $$-M_{1}=M_{2}=\infty $$

-

M
1

=

M
2

=
∞

, i.e. $$\Gamma $$
Γ
-trimmed operators on $${\mathbb {Z}}^{d}={\mathbb {Z}}^{d_{1}}\times {\mathbb {Z}}^{d_{2}}$$

Z

d

=

Z

d
1

×

Z

d
2

. Again, we prove localisation outside $$\Sigma _{0} $$

Σ
0

by showing exponential decay of the Green function $$G_{E+i\eta }(x,y) $$

G

E
+
i
η

(
x
,
y
)

uniformly in $$\eta >0 $$

η
>
0

. For all energies $$E\in {\mathcal {E}}$$

E
∈
E

we prove that the Green’s function $$G_{E+i\eta } $$

G

E
+
i
η

is not (uniformly) in $$\ell ^{1}$$

ℓ
1

as $$\eta $$
η
approaches 0. This implies that neither the fractional moment method nor multi-scale analysis can be applied here.
Crop coefficients and water use of young almond orchards
Authors: Drechsler Kelley , Fulton Allan , Kisekka Isaya 
Published: April 2022

AbstractAn observational study was conducted in the northern Sacramento Valley in California, United States to determine crop water use and crop coefficients of three adjacent young Nonpareil/Monterey almond orchards. Methods used to quantify evapotranspiration estimates of crop water use include (1) a soil water balance and (2) a land surface energy balance using eddy covariance. Three adjacent almond orchards that were planted in 2016, 2017, and 2018 were monitored from 2018 to 2020. Actual crop coefficients were determined using actual evapotranspiration estimates from each orchard and short grass reference evapotranspiration from the Gerber South California Irrigation Management Information System station. Results showed that crop water use and crop coefficients increased until the 4th year, indicating the need to closely consider tree development and orchard age as factors in irrigation scheduling of young almond trees. The results led to the conclusion that farmers should use development or age-specific crop coefficients in developing orchards for irrigation scheduling until the 4th year when they can start using mature almond crop coefficients. The mid-season actual crop coefficients were 0.35, 0.55, 0.88, 1.04, and 0.99 for 1-, 2-, 3-, 4-, and 5-year-old almond orchards. This study has generated baseline data on crop water requirements of young almond orchards that could be useful for (1) developing irrigation scheduling tools for young almond orchards, and (2) determining water budgets for areas with new almond orchards.
Beschleunigung, Resonanz und Achtsamkeit
Authors: Michalak Johannes , Nething Emily , Heidenreich Thomas 
Published: April 2022

Zusammenfassung
Hintergrund
Gemäß der Zeitdiagnose des Soziologen Hartmut Rosa ist die Zeitstruktur moderner Gesellschaften durch Beschleunigung und Entfremdung charakterisiert. Für Rosa besteht ein Gegenentwurf hierzu im Aufbau resonanter Weltbeziehungen. Aus Sicht der Autoren lassen sich interessante Bezüge zwischen Resonanz und Achtsamkeit herstellen. Rosa jedoch hat die „Nutzung“ von Achtsamkeit in modernen westlichen Gesellschaften einer Kritik unterzogen.

Ziel der Arbeit
Darstellung von Rosas Konzepten „Beschleunigung“ und „Resonanz“ und Diskussion seiner wichtigsten Kritikpunkte an Achtsamkeit.

Material und Methode
Es werden die zentralen Ideen von Rosas Büchern zu Beschleunigung und Resonanz vorgestellt. Darüber hinaus werden einige der von Rosa in einem Vortrag genannten Kritikpunkte an Achtsamkeit diskutiert.

Ergebnisse und Diskussion
Das von Rosa dargestellte Resonanzkonzept erscheint auch an eine klinisch-psychologische und psychotherapeutische Perspektive anschlussfähig. Rosas Kritik an Achtsamkeit scheint v. a. bezüglich der „Nutzung“ von Achtsamkeit in modernen westlichen Gesellschaften zuzutreffen. Bezüglich anderer Aspekte dürfte seine Kritik jedoch teilweise auf einem verkürzten Verständnis von Achtsamkeit oder unterschiedlichen Schwerpunktsetzungen des Resonanzkonzepts und Achtsamkeit beruhen.
Analgetische Placeboeffekte und Implikationen für die Behandlung chronischer Schmerzen
Authors: Schwartz M. , Klinger R. 
Published: April 2022

ZusammenfassungDie Behandlung von chronischen Schmerzen kann langwierig sein. Erste Ansätze zur Nutzung von Placeboeffekten bei der Behandlung von chronischen Schmerzen zeigen erfolgversprechende Ergebnisse und können dazu beitragen, die z. T. frustranen Therapieoptionen zu verbessern. Daher sollten Placeboeffekte zur verbesserten Behandlung genutzt werden. Im derzeitigen Modell zur Entstehung von Placeboeffekten spielt die Erwartung eine zentrale Rolle. Eine positive oder negative Erwartung wird durch psychologische und biologische „State“- und „Trait“-Faktoren der Patient:innen sowie die früheren Lernerfahrungen, die der:die Patient:in mitbringt, beeinflusst. Aus diesem Modell ergeben sich Implikationen für die klinische Praxis: Positive Erwartungen sollten unterstützt werden, wobei unrealistische Erwartungen wiederum den Placeboeffekt reduzieren. Negative Erwartungen sollten kritisch diskutiert werden. Es sollte im interdisziplinären Team eine gemeinsame Botschaft an die Patient:innen vermittelt werden. Open-Label-Placebos können als Intervention genutzt werden, um die Selbstwirksamkeit zu steigern.
Fiber Composition in Sows’ Diets Modifies Clostridioides difficile Colonization in Their Offspring
Authors: Grześkowiak Łukasz , Saliu Eva-Maria , Martínez-Vallespín Beatriz , Wessels Anna Grete , Männer Klaus , Vahjen Wilfried , Zentek Jürgen 
Published: April 2022

AbstractDietary fiber has a potential to modulate the gut microbiota in sows. We hypothesized that a maternal diet rich in either high- or low-fermentable fiber during gestation and lactation influences Clostridioides difficile gut colonization in suckling piglets. Twenty sows were fed gestation and lactation diets enriched with either high-fermentable sugar beet pulp (SBP) or low-fermentable lignocellulose (LNC) fibers. C. difficile, toxin B (TcdB), fecal score, microbial abundance (16S-rDNA sequencing) and metabolites were measured in the feces from the sows and their piglets. C. difficile concentration was higher in piglets from the sows fed LNC than SBP along the study (P ≤ 0.05). Higher prevalence of C. difficile was noted in three-week-old piglets from sows fed LNC vs. SBP (45% vs. 0%, P = 0.001). TcdB prevalence was higher in six-day-old piglets from the sows fed LNC vs. SBP (60% vs. 17%, P = 0.009). In sows, fecal microbial metabolites were higher in SBP than LNC, while C. difficile concentration showed no difference. Higher microbial diversity Shannon index was noted in sows from SBP vs. LNC one week before parturition and at the parturition (P ≤ 0.05). Piglets from SBP vs. LNC tended to have higher microbial diversity Shannon index at two and three weeks of age. Diets enriched with high-fermentable fiber compared to low-fermentable fiber in sows reduced C. difficile colonization in their piglets. Susceptibility to colonization by C. difficile in neonatal piglets can be modulated by the sows’ diet, supporting the hypothesis of the early microbial programming in the offspring and the importance of the sow-piglet couple.
FSFI score and timing of tubal ligation in patients: preliminary results of an online survey
Authors: Walter Steffen , Upadhjay Mirjam , Beslic Jelena , Pucher Martin , Herbel Rebecca , Stavroula Stavrou , Dayan Davud , Janni Wolfgang , Ebner Florian 
Published: April 2022

Abstract
Introduction
Tubal ligation is the most common contraceptive method worldwide. Apart from a very low pearl index and anxiety relief, other benefits are not commonly recognised. In young patients, there is the post-operative risk of regretting the decision with the need for In-Vitro-Fertilisation or refertilising surgery. Positive side effects have not been widely published. In our study we investigated the change in the female sexual function index score after tubal ligation.

Material and method
In this survey the FSFI score of participants around the time of the tubal ligation was compared with the FSFI score of intermediate and long-term time distance to the ligation.

Results
The data indicate an increase in younger women seeking information on permanent contraception and whilst the FSFI score of the early group indicates a risk of female sexual dysfunction, the intermediate and long-term FSFI scores are comparable to published control groups.

Discussion
Besides the obvious benefit of a low pearl index, tubal ligation may contribute to reduce the risk of female sexual dysfunction in the mid and long term. Informed consent is essential for the surgeon and patient to weigh up the risks and benefits individually including possible future perspectives on family planning.
The INVEST trial: a randomised feasibility trial of psychologically informed vestibular rehabilitation versus current gold standard physiotherapy for people with Persistent Postural Perceptual Dizziness
Authors: Herdman David , Norton Sam , Murdin Louisa , Frost Kate , Pavlou Marousa , Moss-Morris Rona 
Published: April 2022

AbstractBackgroundPersistent postural perceptual dizziness (PPPD) is a common and disabling functional neuro-vestibular disorder. We aimed to determine the feasibility and acceptability of conducting a randomised controlled trial of cognitive-behavioural therapy informed vestibular rehabilitation (INVEST intervention) designed for persistent dizziness.MethodsA two-armed parallel groups randomised feasibility study of INVEST vs. a time-matched gold standard vestibular rehabilitation (VRT) control. Participants with PPPD were recruited from a specialist vestibular clinic in London, UK. Participants were individually randomised using a minimisation procedure with allocation concealment. Measures of feasibility and clinical outcome were collected and assessed at 4 months.ResultsForty adults with PPPD were randomised to six sessions of INVEST (n = 20) or gold standard VRT (n = 20). Overall, 59% of patients screened met the inclusion criteria, of which 80% enrolled. Acceptability of INVEST, as assessed against the theoretical framework of acceptability (TFA), was excellent and 80% adhered to all 6 sessions. There were small to moderate treatment effects in favour of INVEST across all measures, including dizziness handicap, negative illness perceptions, symptom focussing, fear avoidance, and distress (standardised mean difference [SMD]g = 0.45; SMDg = 0.77; SMDg = 0.56; SMDg = 0.50, respectively). No intervention-related serious adverse events were reported.ConclusionsThe study results give strong support for the feasibility of a full-scale trial. Both arms had high rates of recruitment, retention, and acceptability. There was promising support of the benefits of integrated cognitive-behavioural therapy-based vestibular rehabilitation compared to gold standard vestibular rehabilitation. The study fulfilled all the a-priori criteria to advance to a full-scale efficacy trial.Trial registration numberISRCTN10420559.
On dynamic modeling of piezomagnetic/flexomagnetic microstructures based on Lord–Shulman thermoelastic model
Authors: Malikan Mohammad , Eremeyev Victor A. 
Published: April 2022

AbstractWe study a time-dependent thermoelastic coupling within free vibrations of piezomagnetic (PM) microbeams considering the flexomagnetic (FM) phenomenon. The flexomagneticity relates to a magnetic field with a gradient of strains. Here, we use the generalized thermoelasticity theory of Lord–Shulman to analyze the interaction between elastic deformation and thermal conductivity. The uniform magnetic field is permeated in line with the transverse axis. Using the strain gradient approach, the beam yields microstructural properties. The analytical solving process has been gotten via applying sine Fourier technique on displacements. Graphical illustrations are assigned to shape numerical examples concerning variations in essential physical quantities. It was observed that the flexomagnetic effect could be extraordinary if the thermal conductivity of the material is higher or the thermal relaxation time of the heat source is lesser. This theoretical study will provide the way of starting studies on magneto-thermoelastic small-scale piezo-flexomagnetic structures based on the heat conduction models.
Liquid adsorption and immersion of two alcohol–water mixtures on carbon molecular sieves
Authors: Klauck Mandy , Guhlmann Jonas , Hähnel Thomas , Hauser Matthias , Kalies Grit 
Published: April 2022

AbstractThe adsorption excess isotherms of ethanol–water and propanol–water mixtures are studied on a series of carbon molecular sieves with well-separated micro- and mesoporosity at 298.15 K. The preferential adsorption of one component from a mixture is measured by using vibration densitometry for the concentration analysis. Microcalorimetrically measured enthalpies, which are released upon immersion of the carbon materials in the binary mixtures, complement the adsorption excess data. It is shown that (i) density measurements are well applicable for studying liquid-phase adsorption, (ii) liquid-adsorption isotherms are sensitive to smallest chain length differences of the adsorptives, (iii) the calculated separation diagrams depend strongly on the assumptions about the adsorbed phase, and (iv) the combined determination of gas, vapor and liquid adsorption isotherms and immersion enthalpies offers advantages for the analysis of complex adsorption systems.
Minnow introductions in mountain lakes result in lower salmonid densities
Authors: Tiberti Rocco , Buchaca Teresa , Cruset Tonietti Eloi , Iacobelli Laura , Maini Melissa , Ribelli Fabio , Pou Rovira Quim , Ventura Marc 
Published: April 2022

AbstractSmall fish species such as minnows (Phoxinus sp.) are introduced into mountain lakes by anglers that use them as live bait for fishing salmonids that were previously introduced in these naturally fishless habitats. Introduced fish severely impact native biota but minnows are nevertheless released believing to provide forage for game fish, i.e., salmonids. However, our results indicate that minnows negatively interact with game fish, reducing their relative densities. On some occasions, minnows can remain the only present fish following trout extinction. We believe that this information should be urgently disseminated among anglers as a pragmatic argument to also convince anglers less sensitive to conservation issues that carrying minnows to the mountains is not a good idea whatever the main interest is, e.g., nature conservation or outdoor recreation.