bluuebunny/crossref_metadata_2025_split huggingface dataset:
Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease
Authors: Lee Elizabeth , Guan Peiyong , Lim Abner Herbert , Loh Jui Wan , Tan Grace Fangmin , Loh Tracy , Ng Dave Yong Xiang , Lee Jing Yi , Goh Shane , Liu Wei , Ng Cedric Chuan‐Young , Teh Bin Tean , Chan Jason Yongsheng 
Published: February 2022

AbstractBackgroundAutosomal dominant polycystic kidney disease (ADPKD) is an inherited cystic kidney disease associated with a spectrum of various renal and extrarenal manifestations, including increased risk of kidney cancers. Here, we present the initial molecular description of sarcomatoid renal cell carcinoma (sRCC) arising in the setting of ADPKD.MethodsMultiregion whole‐exome sequencing and whole transcriptomic sequencing were used to examine intratumoral molecular heterogeneity among histologically‐distinct spindle (sarcomatoid), epithelioid, or biphasic compartments within the tumor and compared with the non‐malignant ADPKD component.ResultsSpindle and biphasic components harbored several overlapping driver gene mutations, but do not share any with the epithelioid component. Mutations in ATM, CTNNB1, and NF2 were present only in the biphasic and spindle components, while mutations in BID, FLT3, ARID1B, and SMARCA2 were present only in the epithelioid component. We observed dichotomous evolutionary pathways in the development of epithelioid and spindle compartments, involving early mutations in TP53 and ATM/CTNNB1/NF2 respectively. Wnt, PI3K‐mTOR, and MAPK signaling pathways, known key mechanisms involved in ADPKD development, featured prominently in the sarcomatoid component.ConclusionThis highlights that common pro‐oncogenic signals are present between ADPKD and sRCC providing insights into their shared pathobiology.
Identification of a novel microdeletion causative of Nance‐Horan syndrome
Authors: Lopez Martinolich Mariana , Northrup Hope , Mancias Pedro , Hillman Paul , Rao Kavya , Mowrey Kate 
Published: February 2022

AbstractBackgroundNance‐Horan syndrome (NHS) is a rare X‐linked genetic disorder characterized by ophthalmologic and dental anomalies as well as dysmorphic facies. The clinical phenotype in males includes congenital cataracts, vision loss, microcornea, nystagmus, microphthalmia, glaucoma, screwdriver blade‐shaped incisors, supernumerary maxillary incisors, diastema, delays, intellectual disability, and dysmorphic facies. With the evolution of array‐CGH technology, a total of five kindreds with NHS have been reported in the medical literature with microdeletions encompassing the NHS gene rather than sequencing variants.MethodsThe patient is a 19‐year‐old male born to non‐consanguineous parents with a past medical history of bilateral congenital cataracts, nystagmus, poor vision, glaucoma, screwdriver blade‐shaped incisors, global developmental delay, intellectual disability, bilateral sensorineural hearing loss, axial hypotonia, and bilateral foot contractures.ResultsA chromosomal microarray (CMA) was performed and revealed a 1.83‐Mb interstitial microdeletion at Xp22.2p22.13 (16,604,890–18,435,836) (GRCh37/hg19) that included NHS, CTPS2, S100G, TXLNG, RBBP7, REPS2, SCML1, RAI2, and SCML2.ConclusionHere, we report the second largest microdeletion causative of NHS which also encompasses the remaining four kindreds in hopes of offering a unique perspective at the clinical variability within NHS, investigate genes of interest, and expand the phenotype.
Does preoperative physiotherapy improve outcomes in patients undergoing total knee arthroplasty? A systematic review
Authors: Vasileiadis Dimitrios , Drosos Georgios , Charitoudis Georgios , Dontas Ismene , Vlamis John 
Published: February 2022

AbstractObjectiveTo systematically review the scientific literature and to investigate the effectiveness of preoperative rehabilitation on subjective and objective outcomes after total knee arthroplasty (TKA) when compared with patients in a control group.Data sourcesA search was conducted in PubMed, PubMed Central, Embase, Cochrane Library and Physiotherapy Evidence Database databases in May 2021.Study selectionrandomized controlled trials (RCTs) were reviewed if they compared a preoperative physiotherapy exercise intervention with no intervention group for patients undergoing TKA for severe Osteoarthritis (OA). A total of 24 RCTs were included at the end of the evaluation process. By the end of the evaluation process, a total of 24 RCTs were included.Data extractionTwo authors independently screened the literature, extracted data, and assessed the quality of included studies. The outcomes were knee extension, knee flexion, pain Visual Analogue Scale (VAS), overall Western Ontario and McMaster Universities OA Index, 6 min walking test, and Timed Up and Go test.ResultsThe majority of the studies included in this systemic review demonstrated a comparable trend of long‐term postoperative improvement of knee extension strength, VAS, range of movement and functional scores, and those of quality of life between two groups. Many studies showed a significant improvement in terms of preoperative pain, length of hospital stay and functional performance shortly after the operation, but all studies failed to show a prolonged effect on knee motion or patient function between 3 and 12 months.ConclusionsLow to moderate evidence from mostly small RCTs demonstrated that preoperative physiotherapy interventions reduce pain and improve functional performance for patients with knee OA prior shortly after the TKA.
Efficient estimation of cumulative distribution functions of multiple failure modes using advanced generalized subset simulation
Authors: Yang Zhiyong , Liu Yadong , Nie Jiayan , Li Xueyou 
Published: February 2022

AbstractIt is important to estimate the cumulative distribution function (CDF) of a failure mode in a geotechnical system, because failure of the mode is often characterized by some empirical and/or semi‐empirical thresholds and geotechnical engineers sometimes might be interested in the probability of failure associated with various thresholds. The geotechnical systems also generally contain multiple failure modes. This requires an efficient estimation of cumulative distribution functions (CDFs) of multiple failure modes, which poses a significant challenge in application of conventional geotechnical reliability analysis methods. To address this challenge, this study proposes an advanced generalized subset simulation‐based method (AGSS) to efficiently estimate the CDFs of multiple failure modes of the geotechnical system. The proposed method utilizes the probability weights of samples generated in each sample sub‐space to efficiently estimate the CDFs, instead of using the conditional probability formula that may yield incorrect CDFs due to the sample “jumping” properties existing in generalized subset simulation (GSS). A cantilever retaining wall example and a parallel system example are employed to demonstrate the proposed method. It is found that the proposed method can effectively estimate the CDFs of multiple failure modes with high computational efficiency.
Comparative evaluation of phenolic profile and antioxidant activity of new sweet cherry (Prunus avium L.) genotypes in Turkey
Authors: Ockun Mehmet Ali , Gercek Yusuf Can , Demirsoy Husnu , Demirsoy Leyla , Macit Idris , Oz Gul Cevahir 
Published: February 2022

AbstractIntroductionSweet cherry (Prunus avium L.), one of the most consumed fruits in the world, is rich in phenolic and especially anthocyanin content.ObjectiveThe aim of this study was to evaluate the phenolic properties of 11 different sweet cherry genotypes collected from Giresun, Turkey.MethodsTotal phenol, flavonoid, anthocyanin and antioxidant properties were observed spectrophotometrically in three different extraction (conventional, microwave‐assisted and ultrasound‐assisted) processes. Major phenolic, anthocyanin and antioxidant structures were visually assessed by high‐performance thin layer chromatography (HPTLC). Various phenolics in its structure were determined by liquid chromatography–tandem mass spectrometry (LC–MS/MS).ResultsT2 and E5 genotypes had the highest content in terms of total phenol, flavonoid, anthocyanin and antioxidant activity. In HPTLC, cherry samples contained high levels of chlorogenic acid, neochlorogenic acid, p‐coumaroylquinic acid, rutin and cyanidin‐3 rutinoside. Among the phenolics examined in the LC–MS/MS method, the major compounds in the structure of cherry were found to be chlorogenic acid, rutin and catechin. The T2 genotype had higher phenolics than the other cherry samples (chlorogenic acid 19.3 mg/100 g; catechin; 3.8 mg/100 g; rutin 33.1 mg/100 g).ConclusionAs a result, T2 and E5 genotypes had higher phenolic and antioxidant activity compared to other genotypes and commercial cultivars. It can be said that the antioxidant contents of these genotypes are due to the high anthocyanin amount in their structures. In addition, T2 genotype contained more major phenolics than other cherries. In the next stage, it is recommended to carry out studies on the cultivation of these two varieties.
Novel cardo‐type heat‐resistant polyimides bearing 9H‐xanthene and polymer‐based nanocomposite consisting of NH2‐terminated TiO2: Synthetic strategies, extraction of methylene blue dye, and biological activities
Authors: Khaki Diyari , Namazi Hassan , Amininasab S. Mojtaba 
Published: February 2022

AbstractIn the present study, a series of cardo‐type novel polyimides (PI)s containing xanthene groups was synthesized. All the polymers were amorphous in nature with inherent viscosities in the range of 0.72–0.91 dl/g. Study of thermal behavior showed that PIs have excellent thermal stability with 10% weight loss at temperatures (Td10%) between 426 and 528 °C, glass transition‐related temperatures (Tg) in the range of 292–305 °C, and weight residual at 700 °C ranged from 55% to 68% under N2 atmosphere. Xanthene and fluorene presence, progressed the PIs solubility and also induced good biological activities. The in vitro anticancer activity of the 6FD‐derived PI against the A431 (epidermoid carcinoma) cells showed an IC50 value of 29.3 μM. In the next part of the work, a polymer‐based composite (PI‐B/m‐TiO2@HBP) was prepared by inscribing 20 wt% of hyperbranched polyamide‐grafted TiO2 nanoparticles into BTDA‐derived PI‐B matrix, and compared with the unfilled PI, its photoluminescence intensity and thermal stability properties were increased. The PI‐B and nanocomposite exhibited good antibacterial activity against six bacterial strains. In the following, study of methylene blue (MB) dye adsorption from aqueous solution by the obtained PIs and PI‐B/HBP@TiO2 was carried out and removal efficiency values were found above 80.62%.
Facial landmark‐guided surface matching for image‐to‐patient registration with an RGB‐D camera
Authors: Su Yixian , Sun Yu , Hosny Mohamed , Gao Wenpeng , Fu Yili 
Published: February 2022

AbstractBackgroundFiducial marker‐based image‐to‐patient registration is the most common way in image‐guided neurosurgery, which is labour‐intensive, time consuming, invasive and error prone.MethodsWe proposed a method of facial landmark‐guided surface matching for image‐to‐patient registration using an RGB‐D camera. Five facial landmarks are localised from preoperative magnetic resonance (MR) images using deep learning and RGB image using Adaboost with multi‐scale block local binary patterns, respectively. The registration of two facial surface point clouds derived from MR images and RGB‐D data is initialised by aligning these five landmarks and further refined by weighted iterative closest point algorithm.ResultsPhantom experiment results show the target registration error is less than 3 mm when the distance from the camera to the phantom is less than 1000 mm. The registration takes less than 10 s.ConclusionsThe proposed method is comparable to the state‐of‐the‐arts in terms of the accuracy yet more time‐saving and non‐invasive.
Sliding naturalness: cosmological selection of the weak scale
Authors: D’Agnolo Raffaele Tito , Teresi Daniele 
Published: February 2022

Abstract
We present a cosmological solution to the electroweak hierarchy problem. After discussing general features of cosmological approaches to naturalness, we extend the Standard Model with two light scalars very weakly coupled to the Higgs and present the mechanism, which we recently introduced in a companion paper to explain jointly the electroweak hierarchy and the strong-CP problem. In this work we show that this solution can be decoupled from the strong-CP problem and discuss its possible implementations and phenomenology. The mechanism works with any standard inflationary sector, it does not require weak-scale inflation or a large number of e-folds, and does not introduce ambiguities related to eternal inflation. The cutoff of the theory can be as large as the Planck scale, both for the Cosmological Constant and for the Higgs sector. Reproducing the observed dark matter relic density fixes the couplings of the two new scalars to the Standard Model, offering a target to future axion or fifth force searches. Depending on the specific interaction of the scalars with the Standard Model, the mechanism either yields rich phenomenology at colliders or provides a novel joint solution to the strong-CP problem. We highlight what predictions are common to most realizations of cosmological selection of the weak scale and will allow to test this general framework in the near future.
Constraining conformal theories in large dimensions
Authors: Gadde Abhijit , Sharma Trakshu 
Published: February 2022

Abstract
In this paper, we analyze the constraints imposed by unitarity and crossing symmetry on conformal theories in large dimensions. In particular, we show that in a unitary conformal theory in large dimension D, the four-point function of identical scalar operators ϕ with scaling dimension ∆ϕ such that ∆ϕ/D < 3/4, is necessarily that of the generalized free field theory. This result follows only from crossing symmetry and unitarity. In particular, we do not impose the existence of a conserved spin two operator (stress tensor). We also present an argument to extend the applicability of this result to a larger range of conformal dimensions, namely to ∆ϕ/D < 1. This extension requires some reasonable assumptions about the spectrum of light operators. Together, these results suggest that if there is a non-trivial conformal theory in large dimensions, not necessarily having a stress tensor, then its relevant operators must be exponentially weakly coupled with the rest.
Off-shell supersymmetric continuous spin gauge theory
Authors: Najafizadeh Mojtaba 
Published: February 2022

Abstract
We construct, for the first time, an off-shell supersymmetric continuous spin gauge theory in 4-dimensional Minkowski spacetime, in both constrained and unconstrained Lagrangian formulations. As an extension to the on-shell description [1], we employ an auxiliary field to close the algebra of supersymmetry transformations off-shell. The 4d $$ \mathcal{N} $$
N
= 1 massless continuous spin supermultiplet is then denoted by (Φ, H; Ψ), comprised of a dynamical and a non-dynamical complex scalar continuous spin gauge fields Φ and H, as well as a Dirac continuous spin gauge field Ψ. In particular, we demonstrate that the off-shell continuous spin supermultiplet, in a limit, reproduces off-shell supersymmetry transformations of the known scalar supermultiplet (0, 1/2), all integer-spin supermultiplets (s, s + 1/2), s ≥ 1, and all half-integer spin supermultiplets (s − 1/2, s), s ≥ 1.
Phosphorus plant removal from European agricultural land
Authors: Panagos Panos , Muntwyler Anna , Liakos Leonidas , Borrelli Pasquale , Biavetti Irene , Bogonos Mariia , Lugato Emanuele 
Published: February 2022

AbstractPhosphorus (P) is an important nutrient for all plant growth and it has become a critical and often imbalanced element in modern agriculture. A proper crop fertilization is crucial for production, farmer profits, and also for ensuring sustainable agriculture. The European Commission has published the Farm to Fork (F2F) Strategy in May 2020, in which the reduction of the use of fertilizers by at least 20% is among one of the main objectives. Therefore, it is important to look for the optimal use of P in order to reduce its pollution effects but also ensure future agricultural production and food security. It is essential to estimate the P budget with the best available data at the highest possible spatial resolution. In this study, we focused on estimating the P removal from soils by crop harvest and removal of crop residues. Specifically, we attempted to estimate the P removal by taking into account the production area and productivity rates of 37 crops for 220 regions in the European Union (EU) and the UK. To estimate the P removal by crops, we included the P concentrations in plant tissues (%), the crop humidity rates, the crop residues production, and the removal rates of the crop residues. The total P removal was about 2.55 million tonnes (Mt) (± 0.23 Mt), with crop harvesting having the larger contribution (ca. 94%) compared to the crop residues removal. A Monte-Carlo analysis estimated a ± 9% uncertainty. In addition, we performed a projection of P removal from agricultural fields in 2030. By providing this picture, we aim to improve the current P balances in the EU and explore the feasibility of F2F objectives.
The wide and growing range of lamin B-related diseases: from laminopathies to cancer
Authors: Evangelisti Camilla , Rusciano Isabella , Mongiorgi Sara , Ramazzotti Giulia , Lattanzi Giovanna , Manzoli Lucia , Cocco Lucio , Ratti Stefano 
Published: February 2022

AbstractB-type lamins are fundamental components of the nuclear lamina, a complex structure that acts as a scaffold for organization and function of the nucleus. Lamin B1 and B2, the most represented isoforms, are encoded by LMNB1 and LMNB2 gene, respectively. All B-type lamins are synthesized as precursors and undergo sequential post-translational modifications to generate the mature protein. B-type lamins are involved in a wide range of nuclear functions, including DNA replication and repair, regulation of chromatin and nuclear stiffness. Moreover, lamins B1 and B2 regulate several cellular processes, such as tissue development, cell cycle, cellular proliferation, senescence, and DNA damage response. During embryogenesis, B-type lamins are essential for organogenesis, in particular for brain development. As expected from the numerous and pivotal functions of B-type lamins, mutations in their genes or fluctuations in their expression levels are critical for the onset of several diseases. Indeed, a growing range of human disorders have been linked to lamin B1 or B2, increasing the complexity of the group of diseases collectively known as laminopathies. This review highlights the recent findings on the biological role of B-type lamins under physiological or pathological conditions, with a particular emphasis on brain disorders and cancer.
Graphical abstract
Maternal employment effects of paid parental leave
Authors: Bergemann Annette , Riphahn Regina T. 
Published: February 2022

AbstractWe study the short-, medium-, and long-run employment effects of a substantial change in Germany’s parental leave benefit program. In 2007, a means-tested parental leave transfer program that paid benefits for up to 2 years was replaced with an earnings-related transfer that paid benefits for up to 1 year. The reform changed the regulation for prior benefit recipients and added benefits for those who were not eligible before. Although long-run labor force participation did not change substantially—the reform sped up mothers’ labor market return after their benefits expired. Likely pathways for this substantial reform effect are changes in social norms and in mothers’ preferences for economic independence.
Inhibitory effects on L- and N-type calcium channels by a novel CaVβ1 variant identified in a patient with autism spectrum disorder
Authors: Despang Patrick , Salamon Sarah , Breitenkamp Alexandra , Kuzmenkina Elza , Matthes Jan 
Published: February 2022

AbstractVoltage-gated calcium channel (VGCC) subunits have been genetically associated with autism spectrum disorders (ASD). The properties of the pore-forming VGCC subunit are modulated by auxiliary β-subunits, which exist in four isoforms (CaVβ1-4). Our previous findings suggested that activation of L-type VGCCs is a common feature of CaVβ2 subunit mutations found in ASD patients. In the current study, we functionally characterized a novel CaVβ1b variant (p.R296C) identified in an ASD patient. We used whole-cell and single-channel patch clamp to study the effect of CaVβ1b_R296C on the function of L- and N-type VGCCs. Furthermore, we used co-immunoprecipitation followed by Western blot to evaluate the interaction of the CaVβ1b-subunits with the RGK-protein Gem. Our data obtained at both, whole-cell and single-channel levels, show that compared to a wild-type CaVβ1b, the CaVβ1b_R296C variant inhibits L- and N-type VGCCs. Interaction with and modulation by the RGK-protein Gem seems to be intact. Our findings indicate functional effects of the CaVβ1b_R296C variant differing from that attributed to CaVβ2 variants found in ASD patients. Further studies have to detail the effects on different VGCC subtypes and on VGCC expression.
PTT-quant: a new method for direct identification and absolute quantification of premature transcription termination events, following the example of bacterial riboswitches
Authors: Machtel Piotr , Wasilewska-Burczyk Anna , Zacharjasz Julian , Grzywacz Kamilla 
Published: February 2022

AbstractRegulation of gene expression by premature termination of transcription has been well described in all domains of life, including metazoans, yeast, plants, and bacteria. Although methods for identification of such regulatory events by sequencing are available, the focused biochemical studies of the mechanism are hampered by lack of highly sensitive and accurate experimental methods. Here, we propose a new method for absolute quantification of premature transcription termination events, PTT-quant. It is based on highly sensitive two-step digital droplet PCR protocol, coupled with normalized cDNA synthesis attained by site-specific pre-cleavage of investigated transcripts with RNase H. As a consequence, our method enables the reliable and sensitive quantification of both, prematurely terminated and full-length transcripts. By application of our method to investigation of transcriptional riboswitches in Bacillus subtilis, we were able to precisely measure the dynamics of S-adenosylmethionine (SAM) riboswitch induction, which turned to be ~ 23% higher in comparison the results obtained without cDNA synthesis normalization.Key points• A novel method for quantification of premature transcription termination events was established.• PTT-quant measures absolute concentration of full-length and terminated transcripts.• RNase H and the digital droplet PCR technique is used in PTT-quant.