bluuebunny/crossref_metadata_2025_split huggingface dataset:
Challenges in Clinicogenetic Correlations: One Gene – Many Phenotypes
Authors: Magrinelli Francesca , Balint Bettina , Bhatia Kailash P. 
Published: February 2021

ABSTRACTBackgroundProgress in genetics – particularly the advent of next‐generation sequencing (NGS) – has enabled an unparalleled gene discovery and revealed unmatched complexity of genotype–phenotype correlations in movement disorders. Among other things, it has emerged that mutations in one and the same gene can cause multiple, often markedly different phenotypes. Consequently, movement disorder specialists have increasingly experienced challenges in clinicogenetic correlations.ObjectivesTo deconstruct biological phenomena and mechanistic bases of phenotypic heterogeneity in monogenic movement disorders and neurodegenerative diseases. To discuss the evolving role of movement disorder specialists in reshaping disease phenotypes in the NGS era.MethodsThis scoping review details phenomena contributing to phenotypic heterogeneity and their underlying mechanisms.ResultsThree phenomena contribute to phenotypic heterogeneity, namely incomplete penetrance, variable expressivity and pleiotropy. Their underlying mechanisms, which are often shared across phenomena and non‐mutually exclusive, are not fully elucidated. They involve genetic factors (ie, different mutation types, dynamic mutations, somatic mosaicism, intragenic intra‐ and inter‐allelic interactions, modifiers and epistatic genes, mitochondrial heteroplasmy), epigenetic factors (ie, genomic imprinting, X‐chromosome inactivation, modulation of genetic and chromosomal defects), and environmental factors.ConclusionMovement disorders is unique in its reliance on clinical judgment to accurately define disease phenotypes. This has been reaffirmed by the NGS revolution, which provides ever‐growing sequencing data and fuels challenges in variant pathogenicity assertions for such clinically heterogeneous disorders. Deep phenotyping, with characterization and continual updating of “core” phenotypes, and comprehension of determinants of genotype–phenotype complex relationships are crucial for clinicogenetic correlations and have implications for the diagnosis, treatment and counseling.
Minimum electric‐field gradient coil design: Theoretical limits and practical guidelines
Authors: Roemer Peter B. , Rutt Brian K. 
Published: February 2021

PurposeTo develop new concepts for minimum electric‐field (E‐field) gradient design, and to define the extents to which E‐field can be reduced in gradient design while maintaining a desired imaging performance.MethodsEfficient calculation of induced electric field in simplified patient models was integrated into gradient design software, allowing constraints to be placed on the peak E‐field. Gradient coils confined to various build envelopes were designed with minimum E‐fields subject to standard magnetic field constraints. We examined the characteristics of E‐field‐constrained gradients designed for imaging the head and body and the importance of asymmetry and concomitant fields in achieving these solutions.ResultsFor transverse gradients, symmetric solutions create high levels of E‐fields in the shoulder region, while fully asymmetric solutions create high E‐fields on the top of the head. Partially asymmetric solutions result in the lowest E‐fields, balanced between shoulders and head and resulting in factors of 1.8 to 2.8 reduction in E‐field for x‐gradient and y‐gradient coils, respectively, when compared with the symmetric designs of identical gradient distortion.ConclusionsWe introduce a generalized method for minimum E‐field gradient design and define the theoretical limits of magnetic energy and peak E‐field for gradient coils of arbitrary cylindrical geometry.
Temperature coefficients of degraded crystalline silicon photovoltaic modules at outdoor conditions
Authors: Piliougine M. , Oukaja A. , Sidrach‐de‐Cardona M. , Spagnuolo G. 
Published: February 2021

AbstractThe temperature effect on photovoltaic modules is usually quantified by means of some coefficients relating the variations of the open‐circuit voltage, of the short‐circuit current, and of the maximum power to temperature changes. In this paper, comprehensive experimental guidelines to estimate the temperature coefficients when measurements are performed outdoors are given. In addition, a correction procedure is applied to the short‐circuit current to cancel out the influence of the fluctuations in the irradiance level. The experimental results shown in this paper refer to several single‐crystalline silicon modules that have been operating for 21 years. Consequently, the estimated values of the temperature coefficients also account for module ageing processes. The coefficients of determination achieved in the case of the temperature coefficients of the open‐circuit voltage and the maximum power are very close to one. Results concerning the temperature coefficients of the short‐circuit current are also suitable if they are previously corrected.
Topological Nature of High Temperature Superconductivity
Authors: Diamantini M. Cristina , Trugenberger Carlo A. , Vinokur Valerii M. 
Published: February 2021

AbstractThe key to unraveling the nature of high‐temperature superconductivity (HTS) lies in resolving the enigma of the pseudogap state. The pseudogap state in the underdoped region is a distinct thermodynamic phase characterized by nematicity, temperature‐quadratic resistive behavior, and magnetoelectric effects. Till present, a general description of the observed universal features of the pseudogap phase and their connection with HTS is lacking. The proposed work constructs a unifying effective field theory capturing all universal characteristics of HTS materials and explaining the observed phase diagram. The pseudogap state is established to be a phase where a charged magnetic monopole condensate confines Cooper pairs to form an oblique version of a superinsulator. The HTS phase diagram is dominated by a tricritical point at which the first order transition between a fundamental Cooper pair condensate and a charged magnetic monopole condensate merges with the continuous superconductor‐normal metal and superconductor‐pseudogap state phase transitions. The universality of the HTS phase diagram reflects a unique topological mechanism of competition between the magnetic monopole condensate, inherent to antiferromagnetic‐order‐induced Mott insulators and the Cooper pair condensate. The obtained results establish the topological nature of the HTS and provide a platform for devising materials with the enhanced superconducting transition temperature.
Effect of fibers on the temperature field and radial deformation behavior of self‐compacting concrete pipes under cyclic fire condition
Authors: Liu Genjin , Ding Yining , Wang Yuehua , Zhang Yulin 
Published: February 2021

AbstractIn this paper, the radial deformation of fiber reinforced self‐compacting concrete (SCC) pipes under cyclic fire conditions is studied. A series of experimental study on the temperature fields and radial deformation properties of steel mesh, polypropylene fiber (PP fiber), and macro steel fiber (SF) reinforced SCC pipes subjected to fire is carried out. A novel method for measuring the deformation of pipes under high temperature has been proposed. The results indicate that both micro PP fiber and macro SF are effective in decreasing the temperature difference and reducing the radial deformation in each thermal cycle. A significant positive synergistic effect on decreasing the residual radial deformation can be achieved by combined use of macro SF and micro PP fiber. The elastic theory is used to estimate the elastic portion in the total radial deformation, and the elastic radial deformation is about 22.3% of the maximum radial deformation in the first thermal cycle. Based on the elastic calculation and observed experimental results, a simplified method for estimating the maximum radial deformation in the first thermal cycle is proposed.
Dynamic fracture toughness of ultra‐high‐performance fiber‐reinforced concrete under impact tensile loading
Authors: Tran Tuan Kiet , Tran Ngoc Thanh , Nguyen Duy‐Liem , Kim Dong Joo , Park Jun Kil , Ngo Tri Thuong 
Published: February 2021

AbstractThe fracture toughness and fracture energy of ultra‐high‐performance fiber‐reinforced concrete (UHPFRC) at both static and impact rates (43–92 s−1) were investigated using double‐edge‐notched tensile specimens. Two types of steel fiber, smooth and twisted fiber, were used in producing UHPFRC with different volume ratios of 0.5%, 1.0%, 1.5%, and 2%. The results indicated that UHPFRCs produced very high fracture resistance at impact rates, with first stress intensity factor (KIC) up to 3.995 MPa√m, critical stress intensity factor () up to 7.778 MPa√m, and fracture energy (GF) up to 86.867 KJ/m2, which were 2.5, 5.0, and 16.9 times higher than those of ultra‐high‐performance concrete, respectively. The was clearly sensitive to the applied loading rate, whereas the KIC and GF were not. Smooth fiber specimens exhibited not only higher and GF at impact rates but also higher dynamic increase factor than twisted fiber specimens. A minimum fiber volume content of 1% should be used in UHPFRC to provide a significant enhancement in crack resistance. The maximum value of UHPFRC crack velocity at impact rates was found to be 527 m/s by using a dynamic fracture mechanic model.
Dairy calves show behavioural responses to hot iron disbudding after local anaesthesia with procaine
Authors: Thomsen Peter T. , Hansen Jennie Hed , Herskin Mette S. 
Published: February 2021

AbstractBackground: The efficacy of procaine as anaesthetic for disbudding of calves is largely unknown. Likewise, information about effect of interval from local anaesthesia to disbudding and the size of the hot iron used is missing.Methods: A total of 167 dairy calves were disbudded after cornual nerve block with procaine. Time from administration of anaesthetic to disbudding varied, and calves were disbudded using two different sizes of hot iron. The calves’ behavioural responses to disbudding were recorded based on (1) getting up, (2) kicking, and (3) lifting head. Using logistic regression, the associations between calves showing at least one of these three behaviours and interval from administration of anaesthetic to disbudding and size of the hot iron were evaluated.Results: Overall, 42% of calves showed at least one of the three behaviours, even though they had received a cornual nerve block prior to disbudding. Using the large hot iron was associated with a 2.3 times higher odds of the calf reacting behaviourally compared to the small iron. Interval from administration of anaesthetic to disbudding was not significantly associated with the odds of behavioural responses.Conclusion: Approximately 40% of calves disbudded after cornual nerve block with procaine showed signs of inadequate local anaesthesia. This was especially problematic when hot irons with larger tips were used.
T-duality in nonrelativistic open string theory
Authors: Gomis Jaume , Yan Ziqi , Yu Matthew 
Published: February 2021

Abstract
Nonrelativistic open string theory is defined by a worldsheet theory that produces a Galilean invariant string spectrum and is described at low energies by a nonrelativistic Yang-Mills theory [1]. We study T-duality transformations in the path integral for the sigma model that describes nonrelativistic open string theory coupled to an arbitrary closed string background, described by a string Newton-Cartan geometry, Kalb-Ramond, and dilaton field. We prove that T-duality transformations map nonrelativistic open string theory to relativistic and noncommutative open string theory in the discrete light cone quantization (DLCQ), a quantization scheme relevant for Matrix string theory. We also show how the worldvolume dynamics of nonrelativistic open string theory described by the Dirac-Born-Infeld type action found in [1] maps to the Dirac-Born-Infeld actions describing the worldvolume theories of the DLCQ of open string theory and noncommutative open string theory.
6d superconformal Cardy formulas
Authors: Nahmgoong June 
Published: February 2021

Abstract
We study the superconformal index of 6d SCFTs from their ’t Hooft anomalies. In the Cardy limit where the angular momenta on S5 are large, we show that the leading free energy, as well as a few subleading corrections, can be computed from the 6d anomaly polynomials. Our large N free energy accounts for the entropy of supersymmetric black holes in dual AdS7.
The L∞ structure of gauge theories with matter
Authors: Gomez Humberto , Jusinskas Renann Lipinski , Lopez-Arcos Cristhiam , Vélez Alexander Quintero 
Published: February 2021

Abstract
In this work we present an algebraic approach to the dynamics and perturbation theory at tree-level for gauge theories coupled to matter. The field theories we will consider are: Chern-Simons-Matter, Quantum Chromodynamics, and scalar Quantum Chromodynamics. Starting with the construction of the master action in the classical Batalin-Vilkovisky formalism, we will extract the L∞-algebra that allow us to recursively calculate the perturbiner expansion from its minimal model. The Maurer-Cartan action obtained in this procedure will then motivate a generating function for all the tree-level scattering amplitudes. There are two interesting outcomes of this construction: a generator for fully-flavoured amplitudes via a localisation on Dyck words; and closed expressions for fermion and scalar lines attached to n-gluons with arbitrary polarisations.
Morphogens and growth factor signalling in the myeloma bone-lining niche
Authors: Morris Emma V. , Edwards Claire M. 
Published: February 2021

AbstractMultiple myeloma is a malignancy caused by the clonal expansion of abnormal plasma cells. Myeloma cells have proven to be incredibly successful at manipulating their microenvironment to promote growth and to evade modern therapies. They have evolved to utilise the integral signalling pathways of the bone and bone marrow to drive disease progression. The bone marrow is often described in the context of a single structure that fills the bone cavity and supports normal haematopoiesis. However, within that structure exists two anatomically different niches, the perivascular niche and the endosteal niche. These contain different cell types functioning to support normal immune and blood cell production as well as healthy bone. These cells secrete numerous signalling molecules that can influence myeloma cell biology and behaviour. The endosteal niche is home to specific bone cell lineages and plays a pivotal role in myeloma cell establishment and survival. This review will concentrate on some of the signalling pathways that are hijacked by myeloma cells to shape a favourable environment, and the different influences myeloma cells are exposed to depending on their spatial location within the bone marrow.
Lagrange Inversion and Combinatorial Species with Uncountable Color Palette
Authors: Jansen Sabine , Kuna Tobias , Tsagkarogiannis Dimitrios 
Published: February 2021

AbstractWe prove a multivariate Lagrange-Good formula for functionals of uncountably many variables and investigate its relation with inversion formulas using trees. We clarify the cancellations that take place between the two aforementioned formulas and draw connections with similar approaches in a range of applications.
Just a phase? Mapping the transition of behavioural problems from childhood to adolescence
Authors: Bathelt Joe , Vignoles Anna , Astle Duncan E. 
Published: February 2021

Abstract
Purpose
Young people change substantially between childhood and adolescence. Yet, the current description of behavioural problems does not incorporate any reference to the developmental context. In the current analysis, we aimed to identify common transitions of behavioural problems between childhood and adolescence.

Method
We followed 6744 individuals over 6 years as they transitioned from childhood (age 10) into adolescence (age 16). At each stage, we used a data-driven hierarchical clustering method to identify common profiles of behavioural problems, map transitions between profiles and identify factors that predict specific transitions.

Results
Common profiles of behavioural problems matched known comorbidity patterns but crucially showed that the presentation of behavioural problems changes markedly between childhood and adolescence. While problems with hyperactivity/impulsivity, motor control and conduct were prominent in childhood, adolescents showed profiles of problems related to emotional control, anxiety and inattention. Transitions were associated with socio-economic status and cognitive performance in childhood

Conclusion
We show that understanding behavioural difficulties and mental ill-health must take into account the developmental context in which the problems occur, and we establish key risk factors for specific negative transitions as children become adolescents.
Does the type of surgical approach affect the clinical outcome of total knee arthroplasty?
Authors: Lechner Ricarda , Lazzeri Matteo , Oberaigner Wilhelm , Nardelli Paul , Roth Tobias , Köglberger Paul , Krismer Martin , Liebensteiner Michael Christian 
Published: February 2021

Abstract
Background
The aim of the study was to investigate the issue of medial midvastus (MMV) vs. medial parapatellar (MPP) approaches in total knee arthroplasty (TKA). It was hypothesized that the two surgical approaches would produce significantly different results with respect to patient-reported knee score outcome (hypothesis 1), short-term postoperative range of motion (ROM) (hypothesis 2), long-term postoperative ROM (hypothesis 3) and prosthesis survival (hypothesis 4).

Methods
A retrospective comparative study design was applied. Data sets were obtained from the state arthroplasty registry. The Western Ontario and McMaster Universities osteoarthritis index (WOMAC) data were analyzed from preoperative and 1 year postoperatively. The ROM data were analyzed for the time points preoperative, postoperative days 4 and 10 and 1 year.

Results
Available were 627 cases (407 MMV vs. 220 MPP) and 1 year postoperatively there were no significant differences between groups regarding the WOMAC scores (hypothesis 1). Early postoperatively on days 4 and 10 after TKA there were no differences between groups (p = 0.305 and p = 0.383, respectively, hypothesis 2). Likewise, ROM did not significantly differ between the groups 1 year after TKA (p = 0.338, hypothesis 3). The 5‑year prosthesis survival did not differ between the groups and showed 94.46% (95% confidence interval, CI 90.69–96.73%) in the MMV group and 94.33% (95% CI 89.96–96.83%) in the MPP group (p = 0.664, hypothesis 4).

Conclusion
Both surgical approaches produce equivalent clinical results in terms of early postoperative ROM, late postoperative ROM and 1‑year WOMAC. The same prosthesis survival rates can be expected.
Bacterial contamination of irrigation fluid and suture material during ACL reconstruction and meniscus surgery
Authors: Bartek Benjamin , Winkler Tobias , Garbe Anja , Schelberger Tarek , Perka Carsten , Jung Tobias 
Published: February 2021

Abstract
Purpose
During knee arthroscopy, irrigation fluid from the surgical site accumulates in the sterile reservoir. Whether these fluid collections and also suture material used during the arthroscopic surgical processes show bacterial contamination over time during surgery remains unclear. The purpose of this study was to determine this contamination rate and to analyze its possible influence on postoperative infection.

Materials and methods
In this study, 155 patients were included. Fifty-eight underwent reconstruction of the anterior cruciate ligament (ACL), 63 meniscal surgery and 34 patients combined ACL reconstruction and meniscus repair. We collected pooled samples of irrigation fluid from the reservoir on the sterile drape every 15 min during the surgery. In addition, we evaluated suture material of ACL graft and meniscus repair for bacterial contamination. Samples were sent for microbiological analysis, incubation time was 14 days.
All patients were seen in the outpatient department 6, 12 weeks and 12 months postoperatively and examined for clinical signs of infection.

Results
A strong statistical correlation (R2 = 0.81, p = 0.015) was found between an advanced duration of surgery and the number of positive microbiological findings in the accumulated fluid. Suture and fixation material showed a contamination rate of 28.4% (29 cases). Despite the high contamination rate, only one infection was found in the follow-up examinations, caused by Staphylococcus lugdunensis.

Conclusion
Since bacterial contamination of accumulated fluid increases over time the contact with the fluid reservoirs should be avoided.

Level of evidence
IV.
Linear evasion differential game of one evader and several pursuers with integral constraints
Authors: Ibragimov Gafurjan , Ferrara Massimiliano , Ruziboev Marks , Pansera Bruno Antonio 
Published: February 2021

AbstractAn evasion differential game of one evader and many pursuers is studied. The dynamics of state variables $$x_1,\ldots , x_m$$

x
1

,
…
,

x
m

are described by linear differential equations. The control functions of players are subjected to integral constraints. If $$x_i(t) \ne 0$$

x
i

(
t
)

≠
0

for all $$i \in \{1,\ldots ,m\}$$

i
∈
{
1
,
…
,
m
}

and $$t \ge 0$$

t
≥
0

, then we say that evasion is possible. It is assumed that the total energy of pursuers doesn’t exceed the energy of evader. We construct an evasion strategy and prove that for any positive integer m evasion is possible.
Convergence rates for the numerical approximation of the 2D stochastic Navier–Stokes equations
Authors: Breit Dominic , Dodgson Alan 
Published: February 2021

AbstractWe study stochastic Navier–Stokes equations in two dimensions with respect to periodic boundary conditions. The equations are perturbed by a nonlinear multiplicative stochastic forcing with linear growth (in the velocity) driven by a cylindrical Wiener process. We establish convergence rates for a finite-element based space-time approximation with respect to convergence in probability (where the error is measured in the $$L^\infty _tL^2_x\cap L^2_tW^{1,2}_x$$

L
t
∞

L
x
2

∩

L
t
2

W
x

1
,
2

-norm). Our main result provides linear convergence in space and convergence of order (almost) 1/2 in time. This improves earlier results from Carelli and Prohl (SIAM J Numer Anal 50(5):2467–2496, 2012) where the convergence rate in time is only (almost) 1/4. Our approach is based on a careful analysis of the pressure function using a stochastic pressure decomposition.
Fundamental characterization of wheat gluten
Authors: Schopf Marina , Wehrli Monika Christine , Becker Thomas , Jekle Mario , Scherf Katharina Anne 
Published: February 2021

AbstractVital wheat gluten plays an important role in the food industry, especially in baking to help standardize dough properties and improve bread volume. However, a fundamental characterization of a wide variety of vital gluten samples is not available so far. This would be necessary to relate compositional characteristics to the production process. Therefore, we analyzed the content of crude protein, starch, lipids and ash, oil and water absorption capacity, particle size distribution, gluten protein composition and spectroscopic properties of 39 vital gluten samples from 6 different suppliers. Principle component analysis of all analytical parameters revealed that the samples from one specialized vital gluten manufacturer had a different composition and a greater variability compared to all other samples from wheat starch producers. While the composition of vital gluten samples from the same manufacturer was similar and the score plot showed a cluster formation for samples from three suppliers, the variability over all samples was comparatively low. The samples from the other suppliers were too similar altogether so that it was hardly possible to identify clear differences, also related to functionality.