bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Authors: Dhindsa Ryan S. , Mattsson Johan , Nag Abhishek , Wang Quanli , Wain Louise V. , Allen Richard , Wigmore Eleanor M. , Ibanez Kristina , Vitsios Dimitrios , Deevi Sri V. V. , Wasilewski Sebastian , Karlsson Maria , Lassi Glenda , Olsson Henric , Muthas Daniel , Monkley Susan , Mackay Alex , Murray Lynne , Young Simon , Haefliger Carolina ,   FinnGen Consortium, Maher Toby M. , Belvisi Maria G. , Jenkins Gisli , Molyneaux Philip L. , Platt Adam , Petrovski Slavé 
Published: March 2021

AbstractIdiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome sequencing data from 752 individuals with sporadic IPF and 119,055 UK Biobank controls, we performed a variant-level exome-wide association study (ExWAS) and gene-level collapsing analyses. Our variant-level analysis revealed a novel association between a rare missense variant in SPDL1 and IPF (NM_017785.5:g.169588475 G > A p.Arg20Gln; p = 2.4 × 10−7, odds ratio = 2.87, 95% confidence interval: 2.03–4.07). This signal was independently replicated in the FinnGen cohort, which contains 1028 cases and 196,986 controls (combined p = 2.2 × 10−20), firmly associating this variant as an IPF risk allele. SPDL1 encodes Spindly, a protein involved in mitotic checkpoint signalling during cell division that has not been previously described in fibrosis. To the best of our knowledge, these results highlight a novel mechanism underlying IPF, providing the potential for new therapeutic discoveries in a disease of great unmet need.
Identification of pivotal genes associated with the prognosis of gastric carcinoma through integrated analysis
Authors: Ma Zhenchao , Xu Jianwei , Ru Lixin , Zhu Weihua 
Published: March 2021

AbstractPurpose: Detecting and diagnosing gastric cancer (GC) during its early period remains greatly difficult. Our analysis was performed to detect core genes correlated with GC and explore their prognostic values.Methods: Microarray datasets from the Gene Expression Omnibus (GEO) (GSE54129) and The Cancer Genome Atlas (TCGA)-stomach adenocarcinoma (STAD) datasets were applied for common differentially co-expressed genes using differential gene expression analysis and Weighted Gene Co-expression Network Analysis (WGCNA). Functional enrichment analysis and protein–protein interaction (PPI) network analysis of differentially co-expressed genes were performed. We identified hub genes via the CytoHubba plugin. Prognostic values of hub genes were explored. Afterward, Gene Set Enrichment Analysis (GSEA) was used to analyze survival-related hub genes. Finally, the tumor-infiltrating immune cell (TIC) abundance profiles were estimated.Results: Sixty common differentially co-expressed genes were found. Functional enrichment analysis implied that cell–cell junction organization and cell adhesion molecules were primarily enriched. Hub genes were identified using the degree, edge percolated component (EPC), maximal clique centrality (MCC), and maximum neighborhood component (MNC) algorithms, and serpin family E member 1 (SERPINE1) was highly associated with the prognosis of GC patients. Moreover, GSEA demonstrated that extracellular matrix (ECM) receptor interactions and pathways in cancers were correlated with SERPINE1 expression. CIBERSORT analysis of the proportion of TICs suggested that CD8+ T cell and T-cell regulation were negatively associated with SERPINE1 expression, showing that SERPINE1 may inhibit the immune-dominant status of the tumor microenvironment (TME) in GC.Conclusions: Our analysis shows that SERPINE1 is closely correlated with the tumorigenesis and progression of GC. Furthermore, SERPINE1 acts as a candidate therapeutic target and prognostic biomarker of GC.
Toddlers' Early Communicative Skills as Assessed by the Short Form Version of the Estonian MacArthur-Bates Communicative Development Inventory II
Authors: Urm Ada , Tulviste Tiia 
Published: March 2021

Purpose
The purpose of the current study is to develop a valid and reliable screening tool to identify children with risk of developing language difficulties for Estonian-speaking 2- to 3-year-old children.

Method

Nine hundred ninety parents of children ages 1;8–3;1 (years;months) filled in the Estonian MacArthur-Bates Communicative Development Inventory II (ECDI-II SF)—containing a 100-word vocabulary checklist, questions about decontextualized language use, and sentence production. A subset of parents filled in the long form of the MacArthur-Bates Communicative Development Inventory: Words and Sentences (
n
= 131). We examined the results of 31 children with language problems on the ECDI-II SF to assess the accuracy of the instrument.

Results
The concordance of scores on the ECDI-II long form and ECDI-II SF is high. Toddlers' results on the ECDI-II SF are related to their gender, with girls outscoring boys on the expressive vocabulary and sentence complexity subscales. We also found that children of highly educated mothers outperform others in the acquisition of grammatical skills. The sensitivity and specificity of the ECDI-II SF vocabulary section supported the implementation of this screening tool in order to identify toddlers with difficulties in their language development.

Conclusions
ECDI-II SF vocabulary scores are the most informative for determining whether a 2- or 3-year-old is following typical developmental patterns or should be referred to a speech and language specialist for a direct assessment. We provide a discussion on early language screening process and its implications for public health policies.
J-PLUS: The star formation main sequence and rate density at d  ≲  75 Mpc
Authors: Vilella-Rojo G. , Logroño-García R. , López-Sanjuan C. , Viironen K. , Varela J. , Moles M. , Cenarro A. J. , Cristóbal-Hornillos D. , Ederoclite A. , Hernández-Monteagudo C. , Marín-Franch A. , Vázquez Ramió H. , Galbany L. , González Delgado R. M. , Hernán-Caballero A. , Lumbreras-Calle A. , Sánchez-Blázquez P. , Sobral D. , Vílchez J. M. , Alcaniz J. , Angulo R. E. , Dupke R. A. , Sodré L. 
Published: March 2021

Aims. Our goal is to estimate the star formation main sequence (SFMS) and the star formation rate density (SFRD) at z ≤ 0.017 (d ≲ 75 Mpc) using the Javalambre Photometric Local Universe Survey (J-PLUS) first data release, that probes 897.4 deg2 with twelve optical bands.
Methods. We extract the Hα emission flux of 805 local galaxies from the J-PLUS filter J0660, being the continuum level estimated with the other eleven J-PLUS bands, and the dust attenuation and nitrogen contamination corrected with empirical relations. Stellar masses (M⋆), Hα luminosities (LHα), and star formation rates (SFRs) were estimated by accounting for parameters covariances. Our sample comprises 689 blue galaxies and 67 red galaxies, classified in the (u − g) vs. (g − z) color–color diagram, plus 49 AGN.
Results. The SFMS is explored at log M⋆ ≳ 8 and it is clearly defined by the blue galaxies, with the red galaxies located below them. The SFMS is described as log SFR = 0.83log M⋆ − 8.44. We find a good agreement with previous estimations of the SFMS, especially those based on integral field spectroscopy. The Hα luminosity function of the AGN-free sample is well described by a Schechter function with log LHα∗ = 41.34, log ϕ* = −2.43, and α = −1.25. Our measurements provide a lower characteristic luminosity than several previous studies in the literature.
Conclusions. The derived star formation rate density at d ≲ 75 Mpc is log ρSFR = −2.10 ± 0.11, with red galaxies accounting for 15% of the SFRD. Our value is lower than previous estimations at similar redshift, and provides a local reference for evolutionary studies regarding the star formation history of the Universe.
Von einer enterovesikalen Fistel zum Mammakarzinom
Authors: Comploj Evi , Hanspeter Esther , Bonatti Matteo , Palermo Salvatore , Mazzucato Giovanni , Pycha Armin , Trenti Emanuela 
Published: March 2021

ZusammenfassungWir berichten über den Fall einer 83-jährigen Patientin, die unter dem Verdacht einer enterovesikalen Fistel hospitalisiert und operiert wurde und schlussendlich die Diagnose eines intestinal metastasierten Mammakarzinoms erhielt.
Cumulative Effects of Thyroid Hormones Over 10 Years and Risk of General and Abdominal Obesity
Authors: Mehran Ladan , Amouzegar Atieh , Gharibzadeh Safoora , Abdi Hengameh , Mansournia Mohammad Ali , Tohidi Maryam , Azizi Fereidoun 
Published: March 2021

AbstractWe aimed to assess if changes in thyrotropin (TSH) and free thyroxine (FT4) over 10 years of follow-up would be associated with changes in body mass index (BMI) and waist circumference (WC) or risk of obesity. We enrolled 2317 out of 4179 participants in Tehran Thyroid Study with serum TSH between 0.1–10 mU/l and without history of thyroid medication or surgery. Serum concentrations of FT4 and TSH were measured at baseline and three follow-ups (1999–2011). To account for within-subject correlation, the generalized estimating equation was used to assess the association between one standard deviation(SD) change in the main exposures [cumulative excess (CE)TSH and CEFT4] and changes in BMI and WC; calculated scores of CETSH and CEFT4 were included in models as time-varying exposures. Cumulative excess of TSH or FT4 was not associated with increased incidence of general or abdominal obesity. However, CEFT4 was negatively associated with BMI only in overweight and obese subjects. In GEE analysis, one unit increase in TSH was associated with 0.02 kg/m2 increase in BMI (95% CI: 0.01, 0.03), which remained significant only in women; although the association was not significant after adding FT4 to model. One unit increase in FT4 was associated with 1.5 kg/m2 decrease in BMI (95% CI:−1.8,−1.2) and 4.1 cm decrease in WC (95% CI:−5.1,−3.1) in both sexes independent of TSH and other confounders. Cumulative excess of TSH or FT4 indicated no risk for general or abdominal obesity. However, FT4 was negatively associated with BMI and WC independent of TSH.
Rhytidhyesters A – D, 4 New Chlorinated Cyclopentene Derivatives from the Endophytic Fungus Rhytidhysteron sp. BZM-9
Authors: Zhang Sha , Wang Wenxuan , Tan Jianbin , Kang Fenghua , Chen Dekun , Xu Kangping , Zou Zhenxing 
Published: March 2021

AbstractFour new chlorinated cyclopentene derivatives, rhytidhyesters A – D (1 – 4), were isolated from Rhytidhysteron sp. BZM-9, an endophytic fungus from Leptospermum brachyandrum. The planar structures of compounds 1 – 4 were mainly elucidated by 1D, 2D NMR, and HRESIMS data. Their absolute configurations were established by X-ray crystallographic analysis, quantum chemical 13C NMR, and electronic circular dichroism calculations. Compounds 1 and 2 are a pair of epimers. Moreover, all the isolated compounds were evaluated for cytotoxic activities against 3 human colon cancer cell lines (SW620, HT29, SW480) and antimicrobial activity against Staphylococcus aureus. All compounds exhibited weak to moderate antiproliferative activities with IC50 values ranging from 15.4 to 37.7 µM but were inactive against S. aureus.
Clinical Assessment and Lesion-Specific Management of Orbital Vascular Malformations
Authors: Rootman Daniel B. , Diniz Stefania B. , Cohen Liza M. 
Published: March 2021

AbstractThe systematic classification of vascular disease as proposed and refined by the International Society for the Study of Vascular Anomalies (ISSVA) divides vascular pathology first into tumors and malformations. Malformations are described as simple and complex, where simple malformations contain a single vascular system and complex malformations comprised of multiple vascular systems. Arteriovenous malformations are considered in terms of inflow characteristics which are primarily responsible for the key management challenges. Management utilizing endovascular embolization and/or surgical resection is often employed; however, recurrence can occur, particularly in diffuse cases. There may be an increasing role for systemic antiangiogenic therapy in such cases. Lymphaticovenous malformations are divided into the principle components on the lymphatic and venous sides for clarity of discussion. Lymphatic malformations are described morphologically as macrocystic and microcystic, and physiologically in terms of the processes responsible for growth. In both cases, surgical options are challenging and local therapeutics intended to close large luminal spaces in the case of macrocystic and to slow biological signaling for growth in microcystic. Venous malformations are described physiologically in terms of flow and distensibility, as volume plays a critical role in the limited space of the orbital cavity. Combined embolic-surgical approaches can be effective for management. More complicated, combined lesions can be managed by dividing the lesion into principal components and treating each appropriately.
Role of Minimally Invasive Surgery in Management of Penetrating Abdominal Trauma in Children
Authors: Mahmoud Muhammad Abdelhafez , Daboos Mohammad Alsayed , Bayoumi Ahmed Said Sayed , Helal Ahmed Abdelghaffar , Almaawi Abdulrahman , Hassab Mohamed Hany , Aldaraan Khaled Zamel 
Published: March 2021

AbstractIntroduction Traditionally, exploratory laparotomy was used to treat penetrating abdominal trauma (PAT). At present, minimally invasive surgery (for diagnostic and therapeutic purposes) has developed and represents a rapidly evolving modality for dealing with PAT in stable children. In this article, we aim to present our experience, evaluate the effectiveness, and report the results of minimally invasive surgery (MIS) for PAT in stable pediatric patients.Materials and Methods This prospective study involved 117 hemodynamically stable pediatric cases of PAT (caused by gunshots, stab, and accidental stab), admitted, and managed according to the severity of injury. The information recorded for analysis included demographic data, the anatomical location of injury, the initial vital data and scoring systems, the organs affected, the procedures done, operative time, need for conversion to laparoscopic-assisted approach, length of hospital stay, complications, missed injury, and mortality rate.Results Among 117 pediatric patients with PAT, 15 cases were treated conservatively and 102 cases were managed by MIS. They were 70 males and 47 females with a mean age of 7.3 ± 0.6 years (range = 1–14 years). They included 48 cases of gunshot injury, 33 cases of abdominal stab, and 36 cases of accidental stab. Laparoscopy was diagnostic (DL) in 33.3% (n = 34) and therapeutic (TL) in 66.7% (n = 68) of cases. Of the 68 TL cases, we completely managed 59 cases (86.8%) by laparoscopy, while 9 cases (13.2%) were converted to limited laparotomy. The mean operative time was 17 ± 1 minutes (range = 12–25 minutes) for DL, 85 ± 9 minutes (range = 41–143 minutes) for complete TL cases, and 89 ± 3 minutes (range = 47–149 minutes) for laparoscopic-assisted procedures. For DL cases, the mean length of hospital stay was 2 ± 0.4 days, while for complete TL cases, it was 5.4 ± 0.83 days, and for laparoscopic-assisted cases, it was 5.8 ± 0.37 days. Postoperative complications occurred in eight cases (7.84%), with five cases (4.9%) required reintervention. No missed injury or mortality was recorded in the study. The patients were followed up for a median period of 52 months.Conclusion For management of PAT in children, MIS has 100% accuracy in defining the injured organs with zero percent missed injuries.
Upgrades to the ion cyclotron emission diagnostic on the DIII-D tokamak
Authors: DeGrandchamp G. H. , Thome K. E. , Heidbrink W. W. , Holmes I. , Pinsker R. I. 
Published: March 2021

The ion cyclotron emission diagnostic on the DIII-D tokamak comprises seven single-turn loops that measure high-frequency (1–100 MHz) magnetic field fluctuations that are often excited by energetic particles in the plasma. The raw voltage signals induced in the loops in response to these fluctuations travel through a series of cables, isolation transformer DC blocks, low-pass filters, and finally a digitizer before being analyzed in frequency space. The diagnostic has been recently upgraded, most notably to include four additional graphite tile loops and a new eight-channel digitizer. The previous three loops are all on the low-field side of the tokamak. The measurement capabilities of the system have been expanded by the addition of a new horizontally oriented loop on the low-field side, an additional toroidal loop on the low-field side, and two toroidal loops on the high-field side. These loops will be used to provide approximate mode polarization, improved toroidal mode number calculations, and information on modes in inward-shifted plasmas, respectively.
Magnetically driven short-range order can explain anomalous measurements in CrCoNi
Authors: Walsh Flynn , Asta Mark , Ritchie Robert O. 
Published: March 2021

Significance
High-entropy alloys, an exciting new class of structural materials involving many concentrated elements, are generally assumed to be chemically disordered. This work reveals how magnetic interactions can drive atomic-scale ordering in a mechanically interesting system that has been widely studied as a model for many promising alloys. The formation of short-range order in this manner is used to explain experimental anomalies, suggesting that many related materials could contain similarly impactful ordering under standard conditions. This possibility offers solutions to outstanding questions concerning CrCoNi and emphasizes the importance of magnetism and short-range order in related high-entropy alloys.
Investigation of plant leaf-derived graphene quantum dot clusters via magnetic force microscopy
Authors: Chuang Chiashain , Matsunaga Masahiro , Wang Tian-Hsin , Roy Prathik , Ravindranath Rini , Ananthula Meenakshi , Aoki Nobuyuki 
Published: March 2021

Abstract
Magnetic force microscopy (MFM) is utilized to characterize the magnetic moment in nanostructured plant leaf-derived graphene quantum dot clusters (GQDCs). The MFM signal reveals that the magnetic response of the GQDCs depends on the height and width of the GQDCs. However, individual GQDs, and smaller clusters with widths of less than 20 nm, have not shown any observable magnetic signal. Importantly, experimental analyses suggest that the magnetic signal of GQDCs distributed in a plane can be effectively detected at room temperature. These results could pave the way for future graphene-based magnetic storage media and spin manipulation quantum devices.
Bead on a uniformly rotating rod: why does the bead move out if there is no force in the radial direction?
Authors: Joseph Toby 
Published: March 2021

Abstract
Problems involving rotating systems analysed from an inertial frame, without invoking fictitious forces, is something that freshman students find difficult to understand in an introductory mechanics course. In this article we try to see what could be the factors that lead to this difficulty and propose a set of arguments that could be used to resolve the confusion. We take a specific example of a bead sliding without friction on a rotating rod to address the issues involved. After solving the problem in the inertial reference frame by integrating the equations of motion expressed in the plane polar coordinate system, we carry out a consistency check on how the radial motion can be accounted for by the force that the rod exerts on the bead. We hope that going through this exercise would help students to get more comfortable with understanding problems in a similar mould.
Freeze-in produced dark matter in the ultra-relativistic regime
Authors: Biondini Simone , Ghiglieri Jacopo 
Published: March 2021

Abstract
When dark matter particles only feebly interact with plasma
constituents in the early universe, they never reach thermal
equilibrium. As opposed to the freeze-out mechanism, where the dark
matter abundance is determined at T ≪ M, the energy density of a
feebly interacting state builds up and increases over T ≳
M. In this work, we address the impact of the high-temperature
regime on the dark matter production rate, where the dark and
Standard Model particles are ultra-relativistic and nearly
light-like. In this setting, multiple soft scatterings, as well as
2 → 2 processes, are found to give a large contribution to the
production rate. Within the model we consider in this work, namely a
Majorana fermion dark matter of mass M accompanied by a heavier
scalar — with mass splitting Δ M — which shares
interactions with the visible sector, the energy density can be
dramatically underestimated when neglecting the high-temperature
dynamics. We find that the overall effective 1 ↔ 2
and 2 →2 high-temperature contributions to dark-matter
production give 𝒪(10) (20%) corrections for
Δ M /M =0.1 (Δ M /M =10) to the Born production rate
with in-vacuum masses and matrix elements. We also assess the
impact of bound-state effects on the late-time annihilations of the
heavier scalar, in the context of the super-WIMP mechanism.
Vacuum decay constraints on the Higgs curvature coupling from inflation
Authors: Mantziris Andreas , Markkanen Tommi , Rajantie Arttu 
Published: March 2021

Abstract
We derive lower bounds for the Higgs-curvature coupling from
vacuum stability during inflation in three inflationary models:
quadratic and quartic chaotic inflation, and Starobinsky-like
power-law inflation. In contrast to most previous studies we take
the time-dependence of the Hubble rate into account both in the
geometry of our past light-cone and in the Higgs effective
potential, which is approximated with three-loop renormalisation
group improvement supplemented with one-loop curvature
corrections. We find that in all three models, the lower bound is
ξ≳ 0.051… 0.066 depending on the top quark mass. We
also demonstrate that vacuum decay is most likely to happen a few
e-foldings before the end of inflation.
Automatic control of desflurane concentration in surgical procedures using laparoscopic technique
Authors: Dominikowski B , Gaszyński T 
Published: March 2021

AbstractCurrently computer programs are known to predict what value of desflurane concentration will be required during general anesthesia. None of them are coupled with the vaporizer of this anesthetic. The authors of the article presented the possibilities of automating the selection of desflurane concentration for vaporizers equipped with an adjustable knob during the conduction phase of balanced anesthesia. The value of the delivered concentration of the volatile anesthetic should be such as to ensure the hemodynamic stability of the anesthetized patient. The above-mentioned solution is based on the values of circulatory parameters such as: mean blood arterial pressure (MAP) and heart rate (HR). The proposed system is equipped with limiters containing upper and lower limits to prevent decrease or excessive deepening of anesthesia which resulting in hemodynamic instability. The system also reacts to rapid changes in blood circulation values adjusting the concentration of anesthetic to the strength of the surgical stimulus and the circulatory response to the course of anesthesia and the surgical procedure. The authors of the article showed the usefulness of automating the selection of desflurane concentration in low-flow anesthesia. The algorithm controlling the setting of the desflurane vaporizer knob does not bind the input and output spaces with mathematical relationships.