bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility
Authors: Lonjou Christine , Eon‐Marchais Séverine , Truong Thérèse , Dondon Marie‐Gabrielle , Karimi Mojgan , Jiao Yue , Damiola Francesca , Barjhoux Laure , Le Gal Dorothée , Beauvallet Juana , Mebirouk Noura , Cavaciuti Eve , Chiesa Jean , Floquet Anne , Audebert‐Bellanger Séverine , Giraud Sophie , Frebourg Thierry , Limacher Jean‐Marc , Gladieff Laurence , Mortemousque Isabelle , Dreyfus Hélène , Lejeune‐Dumoulin Sophie , Lasset Christine , Venat‐Bouvet Laurence , Bignon Yves‐Jean , Pujol Pascal , Maugard Christine M. , Luporsi Elisabeth , Bonadona Valérie , Noguès Catherine , Berthet Pascaline , Delnatte Capucine , Gesta Paul , Lortholary Alain , Faivre Laurence , Buecher Bruno , Caron Olivier , Gauthier‐Villars Marion , Coupier Isabelle , Mazoyer Sylvie , Monraz Luis‐Cristobal , Kondratova Maria , Kuperstein Inna , Guénel Pascal , Barillot Emmanuel , Stoppa‐Lyonnet Dominique , Andrieu Nadine , Lesueur Fabienne 
Published: December 2020

AbstractSingle‐nucleotide polymorphisms (SNPs) in over 180 loci have been associated with breast cancer (BC) through genome‐wide association studies involving mostly unselected population‐based case‐control series. Some of them modify BC risk of women carrying a BRCA1 or BRCA2 (BRCA1/2) mutation and may also explain BC risk variability in BC‐prone families with no BRCA1/2 mutation. Here, we assessed the contribution of SNPs of the iCOGS array in GENESIS consisting of BC cases with no BRCA1/2 mutation and a sister with BC, and population controls. Genotyping data were available for 1281 index cases, 731 sisters with BC, 457 unaffected sisters and 1272 controls. In addition to the standard SNP‐level analysis using index cases and controls, we performed pedigree‐based association tests to capture transmission information in the sibships. We also performed gene‐ and pathway‐level analyses to maximize the power to detect associations with lower‐frequency SNPs or those with modest effect sizes. While SNP‐level analyses identified 18 loci, gene‐level analyses identified 112 genes. Furthermore, 31 Kyoto Encyclopedia of Genes and Genomes and 7 Atlas of Cancer Signaling Network pathways were highlighted (false discovery rate of 5%). Using results from the “index case‐control” analysis, we built pathway‐derived polygenic risk scores (PRS) and assessed their performance in the population‐based CECILE study and in a data set composed of GENESIS‐affected sisters and CECILE controls. Although these PRS had poor predictive value in the general population, they performed better than a PRS built using our SNP‐level findings, and we found that the joint effect of family history and PRS needs to be considered in risk prediction models.
Single‐cell transcriptome analysis reveals that maternal obesity affects DNA repair, histone methylation, and autophagy level in mouse embryos
Authors: Pan Meng‐Hao , Zhu Cheng‐Cheng , Ju Jia‐Qian , Xu Yi , Luo Shi‐Ming , Sun Shao‐Chen , Ou Xiang‐Hong 
Published: December 2020

AbstractObesity causes many reproductive dysfunctions such as reduced conception, infertility, and early pregnancy loss, and this is largely due to the negative effects of obesity on oocyte and embryo quality. In the present study, we employed single‐cell RNA transcriptome sequencing to investigate the potential causes for the maternal obesity effects on mouse embryos. Our results showed that the 4‐cell and morula/blastocyst rates were all significantly decreased during embryo development in obese mice. Genome‐wide analysis indicated that obesity altered the expression of more than 1100 genes in 2‐cell embryos, including the genes which were related to the p53 signaling pathway and apoptosis. Further analysis showed that the expression of 47 genes related to DNA damage was changed, and a positive γH2A signal and the altered expression of Rad51 and Tex15 were observed in the obese embryos. Obesity also affected histone methylation, shown by the decrease of the H3K4‐me2 level. Besides this, we observed the occurrence of autophagy and apoptosis in the embryos of obese mice. There were 42 genes that were related to autophagy/apoptosis that showed aberrant expression, and the positive LC3 signal and the decrease of Clec16a, Rraga, and Atg10 level were also observed. In summary, our study suggested that obesity affected early embryonic development by inducing DNA damage, aberrant histone methylation, and autophagy levels in mice.
Antegrade slow pathway mapping of typical atrioventricular nodal reentrant tachycardia based on direct slow pathway capture
Authors: Tobiume Takeshi , Kato Ritsushi , Matsuura Tomomi , Matsumoto Kazuhisa , Hara Motoki , Takamori Nobuyuki , Taketani Yoshio , Okawa Keisuke , Ise Takayuki , Kusunose Kenya , Yamaguchi Koji , Yagi Shusuke , Fukuda Daijyu , Yamada Hirotsugu , Wakatsuki Tetsuzo , Soeki Takeshi , Sata Masataka , Matsumoto Kazuo 
Published: December 2020

AbstractBackgroundRadiofrequency (RF) ablation of typical atrioventricular nodal reentrant tachycardia (tAVNRT) is performed without revealing out the location of antegrade slow pathway (ASp). In this study, we studied a new electrophysiological method of identifying the site of ASp.MethodsThis study included 19 patients. Repeated series of very high‐output single extrastimulations (VhoSESts) were delivered at the anatomical slow pathway region during tAVNRT. Tachycardia cycle length (TCL), coupling interval (CI), and return cycle (RC) were measured and the prematurity of VhoSESts [ΔPM (= TCL – CI)] and the prolongation of RCs [ΔPL (= RC – TCL)] were calculated. Pacing sites were classified into two categories: (i) ASp capture sites [DSPC(+) sites], where two different RCs were shown, and ASp non‐capture sites [DSPC(‐) sites], where only one RC was shown. RF ablation was performed at DSPC(+) sites and/or sites with catheter‐induced mechanical trauma (CIMT) to ASp.ResultsDSPC(+) sites were shown in 13 patients (68%). RF ablation was successful in all patients without any degree of atrioventricular block nor recurrence. Total number of RF applications was 1.8 ± 1.1. Minimal distance between successful ablation sites and DSPC(+)/CIMT sites and His bundle (HB) electrogram recording sites was 1.9 ± 0.8 mm and 19.8 ± 6.1 mm, respectively. ΔPL of more than 92.5 ms, ΔPL/TCL of more than 0.286, and ΔPL/ΔPM of more than 1.565 could identify ASp with sensitivity of 100%, 91.1%, and 88.9% and specificity of 92.9%, 97.0%, and 97.6%, respectively.ConclusionsSites with ASp capture and CIMT were close to successful ablation sites and could be useful indicators of tAVNRT ablation.
Brugada phenocopy or congenital Brugada syndrome in a patient with spontaneous pneumopericardium and pericarditis
Authors: Khmao Pichmanil , Long Vannak , Ku No , Lim Sivutha 
Published: December 2020

AbstractBrugada syndrome (BrS) is characterized by coved ST segment elevation in the right precordial lead (V1‐V3). Previous reports have described type‐1 or type‐2 Brugada ECG pattern as a Brugada phenocopy (BrP) in various clinical condition and once the etiology is resolved, the BrP ECG pattern normalizes. We describe a case report of type‐1 Brugada ECG pattern in a patient with acquired immunodeficiency syndrome (AIDS) and active pulmonary tuberculosis, which developed to spontaneous pneumopericardium and pericarditis. The coexistence of type‐1 Brugada ECG pattern with spontaneous pneumopericardium and pericarditis is an extremely rare pathological condition that has not been previously described.
Extreme heat events from an object viewpoint with application to south‐east Australia
Authors: King Malcolm J. , Reeder Michael J. 
Published: December 2020

AbstractSurface high temperature extremes have a large impact on society and environment, and their relationship to the large‐scale circulation has been explored in detail. However, most of these studies have investigated these relationships in a single location or region, and focused on events that persist at this location sufficiently long to be considered heatwave‐like events. Moreover, few studies have explored the full lifecycle of extreme temperature events. The present study introduces a simple object that can be used to follow areas of extreme temperature that moves through time, and presents a basic global climatology of these objects, showing that shorter high temperature objects are more frequently found in the tropics and longer objects are more likely along the mid‐latitude jet regions. Heatwave‐length (three or more days) high temperature events in the south‐eastern part of Australia are also explored using this object approach, showing that while many shorter length objects in the area form and decay within the region, longer objects tend to first appear along the coast west of much of the south‐east Australian region and decay mostly over the ocean to the south‐east of the region. The area affected by the objects is closely associated to the propagation of circulation anomalies, moving from west to east with surface temperature extremes slightly to the west of upper‐level anticyclonic anomalies and in between a surface high to the east and a trough/low/cold front to the west. The large‐scale circulation anomalies are similar in structure but differ in magnitude for different lengths of objects that affect south‐east Australia, although longer‐lived objects have upper‐level anticyclonic anomalies located further north than the shorter heatwave‐length objects. Objects that affect both far western and south‐eastern Australia closely resemble the longer south‐eastern Australian heatwave‐length objects.
A triple‐component deep inferior epigastric artery perforator chimeric free flap for three‐dimensional reconstruction of a complex knee defect complicated with patella osteomyelitis
Authors: Yamamoto Takumi , Yamamoto Nana 
Published: December 2020

AbstractReconstruction of a complex knee defect is challenging, especially when complicated with osteomyelitis. Complex knee defect requires multi‐component three‐dimensional reconstruction using a chimeric flap. Although anterolateral thigh (ALT) flap is the most workhorse chimeric flap, another chimeric flap is required when ALT flap is not available. In this report, we present a case of complex knee defect successfully treated with a free triple‐component chimeric deep inferior epigastric artery perforator (DIEP) flap transfer. A 36 year‐old male sustained right above‐knee amputation and Gustilo IIIB open fracture of the left patella after being run over by a train. Stump formation was performed for the right limb amputation, and the left knee wound resulted in skin necrosis complicated with patella osteomyelitis. After debridement, the left knee wound showed a 3 × 2 cm articular capsule defect, 5 × 2 cm exposed patella stump, and a 16 × 9 cm skin defect. A triple‐component chimeric DIEP flap, containing a 7 × 3 cm rectus abdominis muscle (RAM), a 3 × 2 cm RAM's fascia, and a 23 × 10 cm skin was transferred. The RAM's fascia was used to reconstruct the joint, the RAM to cover the exposed patella's stump and the reconstructed joint, and the skin paddle to cover the skin defect. Six months after the surgery, the patient could walk without osteomyelitis recurrence, and there was no limitation in the left knee joint's range of motion. Although indication is limited, a multi‐component chimeric DIEP flap may be an option for three‐dimensional reconstruction of a complex defect.
Symptom cluster profiles following traumatic orthopedic injuries: A protocol
Authors: Breazeale Stephen , Dorsey Susan G. , Kearney Joan , Conley Samantha , Jeon Sangchoon , Yoo Brad , Redeker Nancy S. 
Published: December 2020

AbstractTraumatic injuries affect millions of Americans annually, resulting in $671 billion in healthcare costs and lost productivity. Postinjury symptoms, like pain, sleep disturbance, anxiety, depression, and stressor‐related disorders are highly prevalent following traumatic orthopedic injuries (TOI) and may contribute to negative long‐term outcomes. Symptoms rarely present in isolation, but in clusters of two or more symptoms that co‐occur to affect health in aggregate. Identifying symptom cluster profiles following TOI may identify those at highest risk for negative outcomes. Dysregulation of brain‐derived neurotrophic factor (BDNF) is a potential biological mechanism responsible for symptom cluster profile membership after TOI and may be targeted in future precision‐health applications. The purpose of this paper is to present the protocol of a cross‐sectional study designed to identify symptom cluster profiles and measure the extent to which the BDNF val66met mutation and serum concentration of BDNF are associated with membership in symptom cluster profiles. We plan to recruit 150 TOI survivors within the first 72 h of injury. The study aims are to (1) describe TOI survivors’ membership in symptom cluster profiles, indicated by pain, sleep disturbance, and symptoms of anxiety, depression, and stressor‐related disorders, immediately following a TOI; (2) examine associations between demographic and clinical factors and symptom cluster profile membership among TOI survivors; (3) test the hypothesis that low serum concentrations of BDNF are associated with membership among symptom cluster profiles following TOI; and (4) test the hypothesis that the presence of the val66met mutation on one or both alleles of the BDNF gene is associated with membership among symptom cluster profiles following TOI.
NtRBP45, a nuclear RNA‐binding protein of Nicotiana tabacum, facilitates post‐transcriptional gene silencing
Authors: Zhang Wangbin , Zhu Zongcai , Du Peixiu , Zhang Chao , Yan Hailin , Wang Wenguo , Li Weimin 
Published: December 2020

AbstractThe tobacco RBP45 is a nuclear RNA binding protein (RBP). In this study, we identified that the gene expression of NtRBP45 was significantly up‐regulated upon the Tobacco mosaic virus infection and the central region of the protein accounted for its nuclear localization. In particular, using a green fluorescent protein‐based transient suppression assay, we uncovered that the transiently overexpressed NtRBP45 was able to enhance local post‐transcriptional gene silencing (PTGS), facilitate siRNA accumulation, and compromise the RNA silencing suppression mediated by Tomato aspermy virus 2b protein. Deletion mutagenesis showed that both the N‐ and C‐terminal regions of NtRBP45 were necessary for enhancing PTGS. The data overall indicated a novel RNA silencing factor that might participate in antiviral defense.
First‐principle study of the properties in BaTiO3 and the electronic structure of H2O adsorption on BaTiO3
Authors: Wang Jiao , Xing Zhiguo , Lu Zhenlin , Ding Kaining , Wang Haidou 
Published: December 2020

AbstractThe properties of BaTiO3 and the electronic structure of H2O adsorption on BaTiO3 were investigated by using first principle calculations based on density functional theory. The calculated results show that the orbital hybridization between Ti and O is stronger than that between Ba and O. With the increase of energy, reflex points in the form of random fluctuation and the anisotropy of crystal clear. Enthalpy and heat capacity varies with temperature rise, while free energy fall. H bonds are formed between the hydrogen of water and the surface oxygen of BaTiO3 and between the hydrogen of hydroxyl and the surface oxygen of BaTiO3. The adsorption process of BaTiO3 adsorbing H2O is a physical process and ΔH < 0, ΔS < 0.
Controlling organic interference in determination of soil mineral nitrogen
Authors: Nunes Vander L. N. , Mulvaney Richard L. 
Published: December 2020

AbstractInorganic nitrogen (N) in the form of exchangeable ammonium (NH4+), nitrate (NO3−), or nitrite (NO2−) is normally extracted by shaking soil with a neutral salt solution and is subject to interference by soluble organic N (SON). After optimizing sequential diffusion methods to expedite recovery of NH4+–N and (NO3− + NO2−)‐N, 15N‐tracer studies were conducted to ascertain whether extraction is quantitative when performed on soils amended with 2 g 15N kg−1 using 0.2, 1, and 2 M potassium chloride (KCl) and can be carried out by a simple leaching method instead of conventional shaking‐filtration. The results verified a significant decrease in SON interference with the optimized diffusion procedures and showed that (a) interference is more serious for NH4+–N than for (NO3− + NO2−)‐N, (b) 2 M KCl is required for quantitative recovery of 15NH4+–N, and (c) leaching virtually eliminates organic interference during diffusion of (NO3− + NO2−)‐N. The leaching‐diffusion approach minimizes the inflating effect of SON on soil inorganic N analyses and will be especially useful in N isotope studies.
Commentary on Professor Austin Bradford Hill's Alfred Watson Memorial Lecture
Authors: Hubbard Rebecca A. 
Published: December 2020

AbstractAs availability of health care data for research opens up new frontiers in medical statistics, keeping a focus on the science behind the data is more important than ever to promote sound research and protect the validity of research results. Though the electronic databases currently amassed for research far exceed in scale and scope the observational research Professor Hill likely conceived of, his guidance to statisticians to ground our work in the biological and medical processes behind the data remains salient across the decades.
Biodynamic signatures from ex vivo bone marrow aspirates are associated with chemotherapy‐induced neutropenia in cancer‐bearing dogs
Authors: Marcum Blake A. , Li Zhe , Turek John J. , Moore George E. , Nolte David D. , Childress Michael O. 
Published: December 2020

AbstractBackgroundNeutropenia is the most common dose‐limiting side effect of cytotoxic chemotherapy in cancer‐bearing dogs. Biodynamic imaging (BDI) is a functional imaging technology that measures dynamic light scattering from living, three‐dimensional tissues to characterize intracellular motion within those tissues. Previous studies have associated BDI biomarkers with tumour sensitivity to chemotherapy agents in dogs with naturally occurring cancer. We hypothesized that BDI, performed ex vivo on bone marrow aspirate samples, would identify dynamic biomarkers associated with the occurrence of specific degrees of neutropenia in tumour‐bearing dogs receiving doxorubicin chemotherapy.Materials and MethodsBone marrow aspirates were collected from 10 dogs with naturally occurring cancers prior to initiation of doxorubicin treatment. BDI was performed on bone marrow samples treated ex vivo with doxorubicin at 0.1, 1, 10 and 100 μM along with 0.1% DMSO as a control. Dogs then were treated with doxorubicin (30 mg/m2, intravenously). Peripheral blood neutrophil counts were obtained on the day of treatment and again 7 days later. Receiver operating characteristic curves identified provisional breakpoints for BDI biomarkers that correlated with specific changes in neutrophil counts between the two time points.ResultsProvisional breakpoints for several BDI biomarkers were identified, specifying dogs with the largest proportionate change in neutrophils and with neutropenia that was grade 2 or higher following doxorubicin treatment.ConclusionsBiodynamic imaging of bone marrow aspirates may identify those dogs at greater risk for neutropenia following doxorubicin chemotherapy. This approach may be useful for pre‐emptively modifying chemotherapy dosing in dogs to avoid unacceptable side effects.
Lensing Effect of Black Carbon With Brown Coatings: Dominant Microphysics and Parameterization
Authors: Zhang Xiaolin , Mao Mao , Chen Hongbin , Yin Yan , Tang Shihao 
Published: December 2020

AbstractAbsorption enhancements of polydisperse black carbon (BC) aggregates with brown coatings, decomposed into those due to lensing effect (Elen) and blocking effect (Eblo), are numerically studied based on recent observations with an accurate multiple‐sphere T‐matrix method. Both Elen and Eblo of BC with brown coating are predominantly determined by coated volume fraction of BC in ultraviolet and visible spectral regions, and the impacts of other microphysical parameters of coated BC are trivial if BC is no more than half encapsulated. If more volume fraction of BC is coated, scattering coating can focus more photons onto BC core with stronger lensing effect whereas absorptive coating blocks more photons originally induced by lensing effect onto BC core. The Elen may not be further enhanced with increased shell/core ratio after reaching a threshold, whereas the Eblo has sizable wavelength dependence and becomes close to the Elen in ultraviolet region. Moreover, the lensing and blocking effects of BC with brown coatings are simply parameterized, and the convenient treatments are expected to find wide applications for BC absorption enhancements due to coating.
The Influence of a Fluid Core and a Solid Inner Core on the Cassini State of Mercury
Authors: Dumberry Mathieu 
Published: December 2020

AbstractWe present a model of the Cassini state of Mercury that comprises an inner core, a fluid core, and a mantle. Our model includes inertial and gravitational torques between interior regions, and viscous and electromagnetic (EM) coupling at the boundaries of the fluid core. We show that the coupling between Mercury's interior regions is sufficiently strong that the obliquity of the mantle spin axis deviates from that of a rigid planet by no more than 0.01 arcmin. The mantle obliquity decreases with increasing inner core size, but the change between a large and no inner core is limited to 0.015 arcmin. EM coupling is stronger than viscous coupling at the inner core boundary and, if the core magnetic field strength is above 0.3 mT, locks the fluid and solid cores into a common precession motion. Because of the strong gravitational coupling between the mantle and inner core, the larger the inner core is, the more this coprecessing core is brought into an alignment with the mantle, and the more the obliquity of the polar moment of inertia approaches that expected for a rigid planet. The misalignment between the polar moment of inertia and mantle spin axis increases with inner core size, but is limited to 0.007 arcmin. Our results imply that the measured obliquities of the mantle spin axis and polar moment of inertia should coincide at the present‐day level of measurement errors, and cannot be distinguished from the obliquity of a rigid planet.
Inveterated Facial Palsy Correction with Endoscopically Assisted Multiple Muscle Transposition and Lifts: The EMTL Procedure
Authors: Borsetti Marco , Gangemi Ezio Nicola , Germano Silvia , Clemente Alessandra , Devalle Luca , Cerato Claudia , Merlino Giorgio 
Published: December 2020

Abstract
Introduction The aim of the present analysis was to study the safety and efficacy associated with reanimation in facial nerve palsy by the endoscopically assisted multiple muscle transposition and lifts (EMTL).
Patients and Methods The study sample included all patients who had undergone a facial reanimation by EMTL procedure from September 2015 to May 2019. The patients were analyzed retrospectively, with more than 1 year of follow-up, and were evaluated in terms of functional-aesthetic results and postoperative complications. The outcome was evaluated with the Sunnybrook scale.
Results Fourteen patients were included in the present study. They were all inveterate palsies with minimum 4 years from the initial injury. The preoperative Sunnybrook score ranged from 0 to 5 and the postoperative ranged from 30 to 65. Spontaneous smile achievement was obtained in 10 patients and only mild restoration in one patient. The scar and static correction were satisfactory in all patients. Eye protection was improved in all cases with some form of active blinking in six cases.
Conclusion This study showed that facial palsy correction with EMTL procedure offers a promising alternative treatment for patients with facial palsy not suitable for microsurgical muscle transposition.