bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical characterization of individuals with the distal 1q21.1 microdeletion
Authors: Edwards Stacey D. , Schulze Katharina V. , Rosenfeld Jill A. , Westerfield Lauren E. , Gerard Amanda , Yuan Bo , Grigorenko Elena L. , Posey Jennifer E. , Bi Weimin , Liu Pengfei 
Published: February 2021

AbstractDistal 1q21.1 microdeletions have shown highly variable clinical expressivity and incomplete penetrance, with affected individuals manifesting a broad spectrum of nonspecific features. The goals of this study were to better describe the phenotypic spectrum of patients with distal 1q21.1 microdeletions and to compare the clinical features among affected individuals. We performed a retrospective chart review of 47 individuals with distal 1q21.1 microdeletions tested at a large clinical genetic testing laboratory, with most patients being clinically evaluated in the same children's hospital. Health information such as growth charts, results of imaging studies, developmental history, and progress notes were collected. Statistical analysis was performed using Fisher's exact test to compare clinical features among study subjects. Common features in our cohort include microcephaly (51.2%), seizures (29.8%), developmental delay (74.5%), failure to thrive (FTT) (68.1%), dysmorphic features (63.8%), and a variety of congenital anomalies such as cardiac abnormalities (23.4%) and genitourinary abnormalities (19.1%). Compared to prior literature, we found that seizures, brain anomalies, and FTT were more prevalent among our study cohort. Females were more likely than males to have microcephaly (p = 0.0199) and cardiac abnormalities (p = 0.0018). Based on existing genome‐wide clinical testing results, at least a quarter of the cohort had additional genetic findings that may impact the phenotype of the individual. Our study represents the largest cohort of distal 1q21.1 microdeletion carriers available in the literature thus far, and it further illustrates the wide spectrum of clinical manifestations among symptomatic individuals. These results may allow for improved genetic counseling and management of affected individuals. Future studies may help to elucidate the underlying molecular mechanisms impacting the phenotypic variability observed with this microdeletion.
Leveraging population‐based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project
Authors: Kelly Melissa A , Leader Joseph B , Wain Karen E , Bodian Dale , Oetjens Matthew T , Ledbetter David H , Martin Christa L , Strande Natasha T 
Published: February 2021

AbstractExome and genome sequencing are increasingly utilized in research studies and clinical care and can provide clinically relevant information beyond the initial intent for sequencing, including medically actionable secondary findings. Despite ongoing debate about sharing this information with patients and participants, a growing number of clinical laboratories and research programs routinely report secondary findings that increase the risk for selected diseases. Recently, there has been a push to maximize the potential benefit of this practice by implementing proactive genomic screening at the population level irrespective of medical history, but the feasibility of deploying population‐scale proactive genomic screening requires scaling key elements of the genomic data evaluation process. Herein, we describe the motivation, development, and implementation of a population‐scale variant‐first screening pipeline combining bioinformatics‐based filtering with a manual review process to screen for clinically relevant findings in research exomes generated through the DiscovEHR collaboration within Geisinger's MyCode® research project. Consistent with other studies, this pipeline yields a screen‐positive detection rate between 2.1 and 2.6% (depending on inclusion of those with prior indication‐based testing) in 130,048 adult MyCode patient‐participants screened for clinically relevant findings in 60 genes. Our variant‐first pipeline affords cost and time savings by filtering out negative cases, thereby avoiding analysis of each exome one‐by‐one, as typically employed in the diagnostic setting. While research is still needed to fully appreciate the benefits of population genomic screening, MyCode provides the first demonstration of a program at scale to help shape how population genomic screening is integrated into routine clinical care.
Diagnosing odontogenic sinusitis: An international multidisciplinary consensus statement
Authors: Craig John R. , Poetker David M. , Aksoy Umut , Allevi Fabiana , Biglioli Federico , Cha Bruce Y. , Chiapasco Matteo , Lechien Jerome R. , Safadi Ahmad , Simuntis Regimantas , Tataryn Roderick , Testori Tiziano , Troeltzsch Matthias , Vaitkus Saulius , Yokoi Hidenori , Felisati Giovanni , Saibene Alberto M. 
Published: February 2021

BackgroundOdontogenic sinusitis (ODS) is distinct from non‐odontogenic rhinosinusitis, and often requires multidisciplinary collaboration between otolaryngologists and dental providers to make the diagnosis. The purpose of this study was to develop international multidisciplinary consensus on diagnosing ODS.MethodsA modified Delphi method was used to assess for expert consensus on diagnosing bacterial ODS. A multidisciplinary panel of 17 authors with ODS expertise from 8 countries (8 otolaryngologists, 9 dental specialists) was assembled. Each author completed 2 of 3 surveys (2 specialty‐specific, and 1 for all authors). Thirty‐seven clinical statements were created, focusing on 4 important diagnostic components: suspecting ODS; confirming sinusitis in ODS; confirming different dental pathologies causing ODS; and multidisciplinary collaborative aspects of diagnosing ODS. Target audiences were all otolaryngologists and dental providers.ResultsOf the 37 clinical statements, 36 reached consensus or strong consensus, and 1 reached no consensus. Strong consensus was reached that certain clinical and microbiologic features should arouse suspicion for ODS, and that multidisciplinary collaboration between otolaryngologists and dental providers is generally required to diagnose ODS. To diagnose ODS, otolaryngologists should confirm sinusitis mainly based on nasal endoscopic findings of middle meatal purulence, edema, or polyps, and dental providers should confirm dental pathology based on clinical examination and dental imaging.ConclusionBased on multidisciplinary international consensus, diagnosing ODS generally requires otolaryngologists to confirm sinusitis, and dental providers to confirm maxillary odontogenic pathology. Importantly, both dental providers and otolaryngologists should suspect ODS based on certain clinical features, and refer patients to appropriate providers for disease confirmation.
Onset of Preclinical Alzheimer Disease in Monozygotic Twins
Authors: Konijnenberg Elles , Tomassen Jori , den Braber Anouk , ten Kate Mara , Yaqub Maqsood , Mulder Sandra D. , Nivard Michel G. , Vanderstichele Hugo , Lammertsma Adriaan A. , Teunissen Charlotte E. , van Berckel Bart N. M. , Boomsma Dorret I. , Scheltens Philip , Tijms Betty M. , Visser Pieter Jelle 
Published: February 2021

ObjectiveThe present work was undertaken to study the genetic contribution to the start of Alzheimer's disease (AD) with amyloid and tau biomarkers in cognitively intact older identical twins.MethodsWe studied in 96 monozygotic twin‐pairs relationships between amyloid‐beta (Aβ) aggregation as measured by the Aβ1–42/1–40 ratio in cerebrospinal fluid (CSF; n = 126) and positron emission tomography (PET, n = 194), and CSF markers for Aβ production (beta‐secretase 1, Aβ1–40, and Aβ1–38) and CSF tau. Associations among markers were tested with generalized estimating equations including a random effect for twin status, adjusted for age, gender, and apolipoprotein E ε4 genotype. We used twin analyses to determine relative contributions of genetic and/or environmental factors to AD pathophysiological processes.ResultsTwenty‐seven individuals (14%) had an abnormal amyloid PET, and 14 twin‐pairs (15%) showed discordant amyloid PET scans. Within twin‐pairs, Aβ production markers and total‐tau (t‐tau) levels strongly correlated (r range = 0.73–0.86, all p < 0.0001), and Aβ aggregation markers and 181‐phosphorylated‐tau (p‐tau) levels correlated moderately strongly (r range = 0.50–0.64, all p < 0.0001). Cross‐twin cross‐trait analysis showed that Aβ1–38 in one twin correlated with Aβ1–42/1–40 ratios, and t‐tau and p‐tau levels in their cotwins (r range = −0.28 to 0.58, all p < .007). Within‐pair differences in Aβ production markers related to differences in tau levels (r range = 0.49–0.61, all p < 0.0001). Twin discordance analyses suggest that Aβ production and tau levels show coordinated increases in very early AD.InterpretationOur results suggest a substantial genetic/shared environmental background contributes to both Aβ and tau increases, suggesting that modulation of environmental risk factors may aid in delaying the onset of AD pathophysiological processes. ANN NEUROL 2021;89:987–1000
Common X‐Chromosome Variants Are Associated with Parkinson Disease Risk
Authors: Le Guen Yann , Napolioni Valerio , Belloy Michael E. , Yu Eric , Krohn Lynne , Ruskey Jennifer A. , Gan‐Or Ziv , Kennedy Gabriel , Eger Sarah J. , Greicius Michael D. 
Published: February 2021

ObjectiveThe objective of this study was to identify genetic variants on the X‐chromosome associated with Parkinson disease (PD) risk.MethodsWe performed an X‐chromosome–wide association study (XWAS) of PD risk by meta‐analyzing results from sex‐stratified analyses. To avoid spurious associations, we designed a specific harmonization pipeline for the X‐chromosome and focused on a European ancestry sample. We included 11,142 cases, 280,164 controls, and 5,379 proxy cases, based on parental history of PD. Additionally, we tested the association of significant variants with (1) PD risk in an independent replication with 1,561 cases and 2,465 controls and (2) putamen volume in 33,360 individuals from the UK Biobank.ResultsIn the discovery meta‐analysis, we identified rs7066890 (odds ratio [OR] = 1.10, 95% confidence interval [CI] = 1.06–1.14, p = 2.2 × 10−9), intron of GPM6B, and rs28602900 (OR = 1.10, 95% CI = 1.07–1.14, p = 1.6 × 10−8) in a high gene density region including RPL10, ATP6A1, FAM50A, and PLXNA3. The rs28602900 association with PD was replicated (OR = 1.16, 95% CI = 1.03–1.30, p = 0.016) and shown to colocalize with a significant expression quantitative locus (eQTL) regulating RPL10 expression in the putamen and other brain tissues in the Genotype‐Tissue Expression Project. Additionally, the rs28602900 locus was found to be associated with reduced brain putamen volume. No results reached genome‐wide significance in the sex‐stratified analyses.InterpretationWe report the first XWAS of PD and identify 2 genome‐wide significant loci. The rs28602900 association was replicated in an independent PD dataset and showed concordant effects in its association with putamen volume. Critically, rs26802900 is a significant eQTL of RPL10. These results support a role for ribosomal proteins in PD pathogenesis and show that the X‐chromosome contributes to PD genetic risk. ANN NEUROL 2021;90:22–34
Distribution and Generation of Quantum Coherence for Gaussian States in de Sitter Space
Authors: Liu Qianqian , Wen Cuihong , Wang Jieci , Jing Jiliang 
Published: February 2021

AbstractThe distribution and generation of quantum coherence for two‐mode and multi‐mode Gaussian states in de Sitter space are studied. It is found that the quantum coherence is redistributed among the mode in different open charts under the curvature effect of de Sitter space. In particular, the Gaussian coherence for the initially correlated state is found to survive in the limit of infinite curvature, while quantum entanglement vanishes in this limit. Unlike entanglement and steering, the coherence of a massive scalar field is more robust than a massless field under the influence of curvature of de Sitter space. In addition, it is shown that the curvature generates two‐mode Gaussian state and three‐mode Gaussian state quantum coherence among the open charts, even though the observers are localized in causally disconnected regions. It is worth noting that the gravity‐generated three‐mode coherence is extremely sensitive to the curvature effect for the conformal and massless scalar fields, which may be in principle employed to design an effective detector for the space curvature.
Impact of In‐Cell and In‐Vitro Crowding on the Conformations and Dynamics of an Intrinsically Disordered Protein
Authors: König Iwo , Soranno Andrea , Nettels Daniel , Schuler Benjamin 
Published: February 2021

AbstractThe conformations and dynamics of proteins can be influenced by crowding from the large concentrations of macromolecules within cells. Intrinsically disordered proteins (IDPs) exhibit chain compaction in crowded solutions in vitro, but no such effects were observed in cultured mammalian cells. Here, to increase intracellular crowding, we reduced the cell volume by hyperosmotic stress and used an IDP as a crowding sensor for in‐cell single‐molecule spectroscopy. In these more crowded cells, the IDP exhibits compaction, slower chain dynamics, and much slower translational diffusion, indicating a pronounced concentration and length‐scale dependence of crowding. In vitro, these effects cannot be reproduced with small but only with large polymeric crowders. The observations can be explained with polymer theory and depletion interactions and indicate that IDPs can diffuse much more efficiently through a crowded cytosol than a globular protein of similar dimensions.
Growth of Homogeneous High‐Density Horizontal SWNT Arrays on Sapphire through a Magnesium‐Assisted Catalyst Anchoring Strategy
Authors: Xie Ying , Qian Liu , Lin Dewu , Yu Yue , Wang Shanshan , Zhang Jin 
Published: February 2021

AbstractIn‐situ growth of high‐density single‐walled carbon nanotube (SWNT) arrays with homogeneity is highly desirable for integrated circuits. However, disastrous migration and aggregation of catalyst nanoparticles on substrate has greatly limited the area of as‐grown SWNT arrays. Herein, we develop a magnesium‐assisted catalyst anchoring strategy to restrain catalyst nanoparticles sintering on substrate. Magnesium modification ameliorates sapphire surface by high temperature solid reaction and thus provides a stronger metal‐support interaction (SMSI). Hereby, we realize the direct growth of high‐density SWNT arrays that fully cover an entire 10×10 mm2 substrate with the local highest density of ≈110 tubes μm−1 using iron as catalyst. This strategy was also proven universal when employing solid carbide catalysts.
The Acidities of Nucleophilic Monofluoromethylation Reagents: An Anomalous α‐Fluorine Effect
Authors: Zheng Hanliang , Li Zhen , Jing Jianfang , Xue Xiao‐Song , Cheng Jin‐Pei 
Published: February 2021

AbstractFluorine incorporation into organic molecules is expected to lower the pKa of neighboring functionality via its strong electron‐withdrawing effect, and this strategy has been widely exploited in diverse disciplines. Herein, we report a striking anomalous α‐fluorine substitution effect on the α‐Csp3‐H acidity. We have experimentally measured the pKa values of a series of popular nucleophilic monofluoromethylating reagents α‐fluoro(phenylsulfonyl)methane derivatives as well as their C‐H analogues by Bordwell's overlapping indicator method in dimethyl sulfoxide solution. Contrary to expectations, we found that α‐fluorine substituent does not generally enhance but rather weaken the α‐Csp3‐H acidity of most (phenylsulfonyl)methane derivatives. DFT computations reproduce and provide insight into the anomalous α‐fluorine effect. A correlation was identified between the C‐H pKa of (phenylsulfonyl)methane derivatives and Mayr's nucleophilicity parameter (N) of the corresponding carbanions.
Corn starch/PVA bioplastics—The properties and biodegradability study using Chlorella vulgaris cultivation
Authors: Lim Rowen , Kiew Peck Loo , Lam Man Kee , Yeoh Wei Ming , Ho Mui Yen 
Published: February 2021

AbstractIn this study, a biodegradable alternative to synthetic plastics was explored, where gelatinized corn starch was blended with polyvinyl alcohol (PVA) using the solution casting method at different ratios. Tensile tests showed that films made of only starch exhibited the lowest tensile strength at 3.66 MPa, which increased as the ratio of PVA in the blend was raised. The water vapor transmission rate was similar even when the starch content was changed. PVA was shown to increase the solubility of the film in water, and starch demonstrated a better ability to absorb water than that of PVA, with the pure starch film swelled up to 167% of its original weight. Fourier transform infrared (FTIR) analysis revealed that there was no significant chemical interaction between the starch and PVA which could alter their respective functional groups. Bioplastic films made of only starch showed the least amount of degradation after 3 days when buried in soil, while water uptake in films made of PVA caused it to turn into a sticky gel‐like substance. Chlorella vulgaris exhibited a higher preference for PVA as the substrate when compared to starch. This revealed that C. vulgaris showed promise as a candidate for breaking down the bioplastic films when grown as a heterotroph.
A model to predict the solubility and permeability of gaseous penetrant in the glassy polymeric membrane at high pressure
Authors: Shoghl Sina Nabati , Pazuki Gholamreza , Raisi Ahmadreza 
Published: February 2021

AbstractIn this work, the transport properties of gaseous penetrant through several dense glassy polymeric membranes are studied. The nonequilibrium lattice fluid (NELF) in conjunction with the modified Fick's law and dual mode sorption model was used to simulate the gas transport in glassy polymeric membranes. The approach is based on the sorption, diffusion, in which solubility is calculated based on the NELF model, and diffusion coefficient is obtained from the product thermodynamic coefficient and molecular mobility. The governing equation is solved by the finite element method using COMSOL multi‐physics software. The developed model for gas permeability of glassy polymeric membrane can be applied in a wide range of pressure and temperature. The comparison of the calculated permeability and solubility of gasses with the experimental data represented the ability of the developed model. Increasing feed gas temperature increases the gas permeability, while this variation leads to lower gas solubility in the glassy polymeric membranes. The effect of feed temperature and pressure on permeability and solubility is investigated, and the experimental data from literature are described by the developed model. A good prediction of the experimental data can be observed over the considered condition.
Shape memory polyurethane‐based electrospun yarns for thermo‐responsive actuation
Authors: Guan Xiaoyu , Xia Hong , Ni Qing‐Qing 
Published: February 2021

AbstractElectrospun nanofibrous yarns of shape memory polyurethane (SMPU)‐based nanofibers were successfully prepared. The electrospun yarns were analyzed to assess the dependence of mechanical and shape memory properties on the yarn twist angle. The yarn with a 60° twist angle has high compactness and density, leading to increased tensile strength, elastic modulus, and strain energy. In addition, this yarn shows a significant improvement in the shape memory recovery stress compared with the non‐twisted SMPU nanofibers. Moreover, thermal stimuli allowed for the 60° twisted yarn to lift a load that is 103 times heavier than itself. This yarn had a shape recovery stress of 0.61 MPa and generated a 7.95 mJ recovery energy. The results suggest the electrospun yarns could be used as actuators and sensing devices in the medical and biological fields.
Investigating the effect of water‐mixing nitrogen atmospheric pressure plasma jet on polyether‐ether‐ketone and time stability under different conditions
Authors: Liu Xin , Guan Naiqiao , Shen Haiyang , Zhang Zhongtao , Chen Boxi , Li Yuheng , Hua Shungang 
Published: February 2021

AbstractPossessing excellent properties including good biocompatibility, high strength, and stiffness, polyether‐ether‐ketone (PEEK) has significant application values in medical and industrial fields. However, the relatively poor wettability and low adhesion limit its further applications. Atmospheric pressure plasma jet (APPJ) has been utilized for adjusting PEEK properties, but better hydrophilization effect and time stability after treatment are still urgently needed. In this paper, we employ a water‐mixing nitrogen (N2H2O) APPJ to process PEEK, and surface wettability can be effectively improved (contact angle ~18° within 2 min, distance between sample and nozzle outlet: 10 mm) without inducing obvious microstructure damages. Additionally, after storing for 40 days, the sample treated by N2H2O APPJ also possessed better wettability (~54°) compared with that treated by N2 APPJ (~65°). On the basis of this low‐damage and high‐efficient modification method, we perform aging experiments under different conditions (different temperatures 25, −10°C; and low vacuum condition: 50 kPa) to determine a relatively optimum storing condition for this method. The experiment results indicate that low temperature and vacuum are conducive to retaining the plasma‐induced wettability (~34°). The treatment method and storing conditions for PEEK presented here may facilitate the application of PEEK in various fields.
Antioxidant functionalization of biomaterials via reactive extrusion
Authors: Herskovitz Joshua E. , Goddard Julie M. 
Published: February 2021

AbstractConcern over environmental contamination and the need for industrially produced functional biopolymers motivates the utilization of reactive extrusion for functional grafting. Antioxidant nonmigratory active materials were synthesized through 1,3‐bis(4,5‐dihydro‐2‐oxazolyl)benzene ring opening polymerization with bio‐based poly(lactic acid) (PLA) and antioxidant nitrilotriacetic acid (NTA). Grafting was confirmed through the introduction of new alkyl stretching, disappearance of the characteristic 1,3‐bis(4,5‐dihydro‐2‐oxazolyl)benzene band, and emergence of new amide band on attenuated total reflectance Fourier transform infrared spectroscopy. X‐ray photoelectron spectroscopy (XPS) showed stepwise increases in atomic nitrogen percentage and shifts in proportion of CC:CO bonding, confirming grafting and surface orientation. Antioxidant samples exhibited significant increases in carboxylate density, ranging from 0.75 ± 0.04 to 3.11 ± 0.04 nmol/cm2. Functionalized films demonstrated significant antioxidant properties with Trolox(eq) ranging from 0.36 ± 0.02 to 0.89 ± 0.07 nmol/cm2 according to radical scavenging studies and delayed greater than 52% of ascorbic acid degradation. This work develops a rapid functionalization method for biopolymers and displays efficacy in producing sustainable nonmigratory active materials.