bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
Authors: Tingaud‐Sequeira Angèle , Trimouille Aurélien , Marlin Sandrine , Lopez Estelle , Berenguer Marie , Gherbi Souad , Arveiler Benoit , Lacombe Didier , Rooryck Caroline 
Published: August 2020

AbstractBackgroundThe Oculo‐Auriculo‐Vertebral Spectrum (OAVS) or Goldenhar Syndrome is an embryonic developmental disorder characterized by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical heterogeneity of this spectrum and its incomplete penetrance limited the molecular diagnosis. In this study, we describe a novel causative gene, ZYG11B.MethodsA sporadic case of OAVS was analyzed by whole exome sequencing in trio strategy. The identified candidate gene, ZYG11B, was screened in 143 patients by next generation sequencing. Overexpression and immunofluorescence of wild‐type and mutated ZYG11B forms were performed in Hela cells. Moreover, morpholinos were used for transient knockdown of its homologue in zebrafish embryo.ResultsA nonsense de novo heterozygous variant in ZYG11B, (NM_024646, c.1609G>T, p.Glu537*) was identified in a single OAVS patient. This variant leads in vitro to a truncated protein whose subcellular localization is altered. Transient knockdown of the zebrafish homologue gene confirmed its role in craniofacial cartilages architecture and in notochord development. Moreover, ZYG11B expression regulates a cartilage master regulator, SOX6, and is regulated by Retinoic Acid, a known developmental toxic molecule leading to clinical features of OAVS.ConclusionBased on genetic, cellular and animal model data, we proposed ZYG11B as a novel rare causative gene for OAVS.
The Gut Microbiota and Its Metabolites, Novel Targets for Treating and Preventing Non‐Alcoholic Fatty Liver Disease
Authors: Ni Yinhua , Ni Liyang , Zhuge Fen , Fu Zhengwei 
Published: August 2020

AbstractNon‐alcoholic fatty liver disease (NAFLD) is one of the most prevalent metabolic disorders worldwide, along with obesity and type 2 diabetes. NAFLD involves a series of liver abnormalities from simple hepatic steatosis to non‐alcoholic steatohepatitis, which can ultimately lead to liver cirrhosis and cancer. The gut–liver axis plays an important role in the development of NAFLD, which depends mainly on regulation of the gut microbiota and its bacterial products. These intestinal bacterial species and their metabolites, including bile acids, tryptophan catabolites, and branched‐chain amino acids, regulate adipose tissue and intestinal homeostasis and contribute to the pathogenesis of NAFLD/non‐alcoholic steatohepatitis. In this review, the current evidence regarding the key role of the gut microbiota and its metabolites in the pathogenesis and development of NAFLD is highlighted, and the advances in the progression and applied prospects of gut microbiota‐targeted dietary and exercise therapies is also discussed.
Probing in vivo cortical myeloarchitecture in humans via line‐scan diffusion acquisitions at 7 T with 250‐500 micron radial resolution
Authors: Balasubramanian Mukund , Mulkern Robert V. , Neil Jeffrey J. , Maier Stephan E. , Polimeni Jonathan R. 
Published: August 2020

PurposeThe goal of this study was to measure diffusion signals within the cerebral cortex using the line‐scan technique to achieve extremely high resolution in the radial direction (ie, perpendicular to the cortical surface) and to demonstrate the utility of these measurements for investigating laminar architecture in the living human brain.MethodsLine‐scan diffusion data with 250‐500 micron radial resolution were acquired at 7 T on 8 healthy volunteers, with each line prescribed perpendicularly to primary somatosensory cortex (S1) and primary motor cortex (M1). Apparent diffusion coefficients, fractional anisotropy values, and radiality indices were measured as a function of cortical depth.ResultsIn the deep layers of S1, we found evidence for high anisotropy and predominantly tangential diffusion, with low anisotropy observed in superficial S1. In M1, moderate anisotropy and predominantly radial diffusion was seen at almost all cortical depths. These patterns were consistent across subjects and were conspicuous without averaging data across different locations on the cortical sheet.ConclusionOur results are in accord with the myeloarchitecture of S1 and M1, known from prior histology studies: in S1, dense bands of tangential myelinated fibers run through the deep layers but not the superficial ones, and in M1, radial myelinated fibers are prominent at most cortical depths. This work therefore provides support for the idea that high‐resolution diffusion signals, measured with the line‐scan technique and receiving a boost in SNR at 7 T, may serve as a sensitive probe of in vivo laminar architecture.
55Mn‐based fiducial markers for rapid and automated RF coil localization for hyperpolarized 13C MRI
Authors: Ohliger Michael A. , Gordon Jeremy W. , Carvajal Lucas , Larson Peder E. Z. , Ou Jao J. , Agarwal Shubhangi , Zhu Zihan , Vigneron Daniel B. , von Morze Cornelius 
Published: August 2020

PurposeTo use fiducial markers containing manganese 55 to rapidly localize carbon 13 (13C) RF coils for correcting images for B1 variation.MethodsHollow high‐density polyethylene spheres were filled with 3M sodium permanganate and affixed to a rectangular 13C‐tuned RF coil. The relative positions of the markers and coil conductors were mapped using CT. Marker positions were measured by MRI using a series of 1D projections and automated peak detection. Once the coil location was determined, coil sensitivity was estimated using a quasi‐static calculation. Simulations were performed to determine the minimum number of projections required for robust localization. Phantom experiments were used to confirm the accuracy of marker localization as well as the calculated coil sensitivity. Finally, in vivo validation was performed using hyperpolarized 13C pyruvate in a rat model.ResultsIn simulations, our algorithm was accurate in determining marker positions when at least 6 projections were used (RMSE 1.4 ± 0.9 mm). These estimates were verified in phantom experiments, where markers locations were determined with an RMS accuracy of 1.3 mm. A minimum SNR of 4 was required for automated detection to perform accurately. Computed coil sensitivity had a median error of 17% when taken over the entire measured area and 5.7% over a central region. In a rat, correction for nonuniform reception and flip angle was able to normalize the signals arising from asymmetrically positioned kidneys.ConclusionManganese 55 fiducial markers are an inexpensive and reliable method for rapidly localizing 13C RF coils and correcting 13C images for B1 variation without user intervention.
Comparison of parameter optimization methods for quantitative susceptibility mapping
Authors: Milovic Carlos , Prieto Claudia , Bilgic Berkin , Uribe Sergio , Acosta‐Cabronero Julio , Irarrazaval Pablo , Tejos Cristian 
Published: August 2020

PurposeQuantitative Susceptibility Mapping (QSM) is usually performed by minimizing a functional with data fidelity and regularization terms. A weighting parameter controls the balance between these terms. There is a need for techniques to find the proper balance that avoids artifact propagation and loss of details. Finding the point of maximum curvature in the L‐curve is a popular choice, although it is slow, often unreliable when using variational penalties, and has a tendency to yield overregularized results.MethodsWe propose 2 alternative approaches to control the balance between the data fidelity and regularization terms: 1) searching for an inflection point in the log‐log domain of the L‐curve, and 2) comparing frequency components of QSM reconstructions. We compare these methods against the conventional L‐curve and U‐curve approaches.ResultsOur methods achieve predicted parameters that are better correlated with RMS error, high‐frequency error norm, and structural similarity metric‐based parameter optimizations than those obtained with traditional methods. The inflection point yields less overregularization and lower errors than traditional alternatives. The frequency analysis yields more visually appealing results, although with larger RMS error.ConclusionOur methods provide a robust parameter optimization framework for variational penalties in QSM reconstruction. The L‐curve–based zero‐curvature search produced almost optimal results for typical QSM acquisition settings. The frequency analysis method may use a 1.5 to 2.0 correction factor to apply it as a stand‐alone method for a wider range of signal‐to‐noise‐ratio settings. This approach may also benefit from fast search algorithms such as the binary search to speed up the process.
Free‐breathing liver fat and quantification using motion‐corrected averaging based on a nonlocal means algorithm
Authors: Luo Huiwen , Zhu Ante , Wiens Curtis N. , Starekova Jitka , Shimakawa Ann , Reeder Scott B. , Johnson Kevin M. , Hernando Diego 
Published: August 2020

PurposeTo propose a motion‐robust chemical shift‐encoded (CSE) method with high signal‐to‐noise (SNR) for accurate quantification of liver proton density fat fraction (PDFF) and

.MethodsA free‐breathing multi‐repetition 2D CSE acquisition with motion‐corrected averaging using nonlocal means (NLM) was proposed. PDFF and

quantified with 2D CSE‐NLM were compared to two alternative 2D techniques: direct averaging and single acquisition (2D 1ave) in a digital phantom. Further, 2D NLM was compared in patients to 3D techniques (standard breath‐hold, free‐breathing and navigated), and the alternative 2D techniques. A reader study and quantitative analysis (Bland‐Altman, correlation analysis, paired Student’s t‐test) were performed to evaluate the image quality and assess PDFF and

measurements in regions of interest.ResultsIn simulations, 2D NLM resulted in lower standard deviations (STDs) of PDFF (2.7%) and

(8.2

) compared to direct averaging (PDFF: 3.1%,

: 13.6

) and 2D 1ave (PDFF: 8.7%,

: 33.2

). In patients, 2D NLM resulted in fewer motion artifacts than 3D free‐breathing and 3D navigated, less signal loss than 2D direct averaging, and higher SNR than 2D 1ave. Quantitatively, the STDs of PDFF and

of 2D NLM were comparable to those of 2D direct averaging (p>0.05). 2D NLM reduced bias, particularly in

(−5.73 to −0.36

) that arises in direct averaging (−3.96 to 11.22

) in the presence of motion.Conclusions2D CSE‐NLM enables accurate mapping of PDFF and

in the liver during free‐breathing.
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis
Authors: Sadjadi Reza , Sullivan Stacey , Grant Natalie , Thomas Susan E. , Doyle Maya , Hammond Colleen , Corre Camille , Mello Nicholas , David William S. , Eichler Florian 
Published: August 2020

AbstractBackgroundNephropathic cystinosis is a lysosomal storage disorder with late‐onset systemic complications, such as myopathy and dysphagia. Currently employed outcome measures lack sensitivity and responsiveness for dysphagia and myopathy, a limitation to clinical trial readiness.MethodsWe evaluated 20 patients with nephropathic cystinosis in two visits over the course of a year to identify outcomes sensitive to detect changes over time. Patients also underwent an expiratory muscle strength training program to assess any effects on aspiration and dysphagia.ResultsThere were significant differences in the Timed Up and Go Test (TUG) and Timed 25‐Foot Walk (25‐FW) between baseline and 1‐y follow‐up (P< .05). Maximum expiratory pressure (MEP) and peak cough flow (PCF) significantly improved following respiratory training (P< .05).ConclusionsImproved respiratory outcomes may enhance patients ability to expel aspirated material from the airway, stave off pulmonary sequelae associated with chronic aspiration, and yield an overall improvement in physical health and well‐being.
Intention to response, emergency preparedness and intention to leave among nurses during COVID‐19
Authors: Li Jiaying , Li Pingdong , Chen Jieya , Ruan Liang , Zeng Qiuxuan , Gong Yucui 
Published: August 2020

AbstractAimTo comprehensively assess the current level and identify associated factors of intention to response and emergency preparedness of clinical nurses during COVID‐19 outbreak.DesignA cross‐sectional study was designed.MethodsDemographic and characteristic questionnaire, intention to response scale, emergency preparedness scale and a self‐designed questionnaire related to effects of events and intention to leave were used in this study.ResultsThe mean scores of intention to response and emergency preparedness were 82.00 (SD = 18.17) and 64.99 (SD = 12.94), respectively. Moral consideration, engaged in COVID‐19 protection training, had working experience in SARS, and the other eight factors were explained 34.6% of the total model variance in intention to response model (F = 80.05, p < .001). While, the level of IR, whether the pace of work was affected and above three same factors were explained 21.5% of the total model variance (F = 91.05, p < .001). Pathway analysis revealed that moral consideration, intention to leave and impacts on work and life mediate the relationship between EP and IR.
Bronchioalveolar stem cells in lung repair, regeneration and disease
Authors: Jones‐Freeman Bernadette , Starkey Malcolm R 
Published: August 2020

AbstractBronchioalveolar stem cells (BASCs) are a lung resident stem cell population located at bronchioalveolar duct junctions that contribute to the maintenance of bronchiolar club cells and alveolar epithelial cells of the distal lung. Their transformed counterparts are considered to be likely progenitors of lung adenocarcinomas, which has been a major area of research in relation to BASCs. A critical limitation in addressing the function of BASCs in vivo has been the lack of a unique BASC marker, which has prevented specific targeting of BASCs in animal models of respiratory conditions. Recently, there have been several studies describing genetically modified mice that allow in vivo quantification, tracing, and functional analysis of BASCs to address this long‐standing issue. These cutting‐edge experimental tools will likely have significant implications for future experimental studies involving BASCs and the elucidation of their role in various lung diseases. To date, this has been largely explored in models of lung injury including naphthalene‐induced airway injury, bleomycin‐induced alveolar injury, hyperoxia‐induced models of bronchopulmonary dysplasia, and influenza virus infection. These novel experimental mouse tools will facilitate the assessment of the impact of BASC loss on additional respiratory conditions including infection‐induced severe asthma and chronic obstructive pulmonary disease, as well as respiratory bacterial infections, both in early life and adulthood. These future studies may shed light on the potential broad applicability of targeting BASCs for a diverse range of respiratory conditions during lung development and in promoting effective regeneration and repair of the lung in respiratory diseases. © 2020 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Childhood liver tumors in Argentina: Incidence trend and survival by treatment center. A report from the national pediatric cancer registry, ROHA network 2000‐2015
Authors: Moreno Florencia , Rose Adriana , Chaplin M. Agustina , Cipolla M. Cristina , García Lombardi Mercedes , Nana Mariana , Cervio Guillermo , Halac Esteban , Viso Marianela , Ayarzabal Victor , Bosaleh Andrea , Liberto Daniel , Sarabia Elena , Rizzi Ana , Morici Mercedes , Streitenberger Patricia , de Dávila María Teresa G. 
Published: August 2020

AbstractBackgroundInformation on the epidemiology of pediatric liver tumors in Latin America is limited.PurposeTo describe the incidence of liver tumors in a pediatric registry in Argentina according to geographic region, national trends over 16 years, and survival related to stage, age, sex, and care center.MethodsNewly diagnosed liver tumors cases are registered in the Argentine Pediatric Oncology Hospital Registry (ROHA) with an estimated coverage of 91% of national cases. Age‐standardized incidence rate per millon (ASR) was calculated based on the National Vital Statistics Reports. Five‐year overall survival (OS) was estimated using the Kaplan‐Meier method. The log‐rank test was used to compare subgroup survival.ResultsTwo hundred seven cases of hepatoblastoma (HB) and 73 of hepatocellular carcinoma (HCC) were identified. ASR of liver tumors was 1.8/million (95% confidence Interval [CI], 1.6‐2.0) per year. ASR was 1.4 (1.2‐1.6) for HB and 0.4 (0.3‐0.5) for HCC. For HB, the highest incidence was found in the northwest region including the Altiplano. OS was 60.4% (53.4‐66.8) for HB and 36.1% (25.2‐47.2) for HCC. Five‐year survival rate of children with metastatic HB treated at liver transplant hospitals (LTH) was 54.2% (30.3‐73.0) compared to 13.3% (2.2‐34.6) for those seen at other hospitals (OH) (P = .02), while for HCC this rate was 46.3% (30.7‐60.6) at LTH compared to 17.5% (3.1‐41.9) at OH (P = .01).ConclusionsThe incidence rate of pediatric liver tumors was stable over the 16‐year study period. Patients may benefit if at treatment initiation they are evaluated jointly with LTH specialists to define treatment strategies.
Early‐stage sugar beet taproot development is characterized by three distinct physiological phases
Authors: Jammer Alexandra , Albacete Alfonso , Schulz Britta , Koch Wolfgang , Weltmeier Fridtjof , van der Graaff Eric , Pfeifhofer Hartwig W. , Roitsch Thomas G. 
Published: August 2020

AbstractDespite the agronomic importance of sugar beet (Beta vulgaris L.), the early‐stage development of its taproot has only been poorly investigated. Thus, the mechanisms that determine growth and sugar accumulation in sugar beet are largely unknown. In the presented study, a physiological characterization of early‐stage sugar beet taproot development was conducted. Activities were analyzed for fourteen key enzymes of carbohydrate metabolism in developing taproots over the first 80 days after sowing. In addition, we performed in situ localizations of selected carbohydrate‐metabolic enzyme activities, anatomical investigations, and quantifications of soluble carbohydrates, hexose phosphates, and phytohormones. Based on the accumulation dynamics of biomass and sucrose, as well as on anatomical parameters, the early phase of taproot development could be subdivided into three stages—prestorage, transition, secondary growth and sucrose accumulation stage—each of which was characterized by distinct metabolic and phytohormonal signatures. The enzyme activity signatures corresponding to these stages were also shown to be robustly reproducible in experiments conducted in two additional locations. The results from this physiological phenotyping approach contribute to the identification of the key regulators of sugar beet taproot development and open up new perspectives for sugar beet crop improvement concerning both physiological marker‐based breeding and biotechnological approaches.
Structure and gas transport characteristics of triethylene oxide‐grafted polystyrene‐b‐poly(ethylene‐co‐butylene)‐b‐polystyrene
Authors: Tian Ding , Alebrahim Taliehsadat , Kline Gregory K. , Chen Liwen , Lin Haiqing , Bae Chulsung 
Published: August 2020

AbstractPolymeric membrane‐based gas separation technology has significant advantages compared with traditional amine‐based CO2 separation method. In this work, SEBS block copolymer is used as a polymer matrix to incorporate triethylene oxide (TEO) functionality. The short ethylene oxide segment is chosen to avoid crystallization, which is confirmed by differential scanning calorimetry and wide‐angle X‐ray scattering characterizations. The gas permeability results reveal that CO2/N2 selectivity increased with increasing content of TEO functional group. The highest CO2 permeability (281 Barrer) and CO2/N2 selectivity (31) were obtained for the membrane with the highest TEO incorporation (57 mol%). Increasing the TEO content in these copolymers results in an increase in CO2 solubility and a decrease in C2H6 solubility. For example, as the grafted TEO content increased from 0 to 57 mol%, the CO2 solubility and CO2/C2H6 solubility selectivity increased from 0.72 to 1.3 cm3(STP)/cm3 atm and 0.47 to 1.3 at 35°C, respectively. The polar ether linkage in TEO‐grafted SEBS copolymers exhibits favorable interaction with CO2 and unfavorable interaction with nonpolar C2H6, thus enhancing CO2/C2H6 solubility selectivity.
Poly(2‐[dimethylamino]ethyl methacrylate)‐b‐poly(hydroxypropyl methacrylate)/DNA polyplexes in aqueous solutions
Authors: Sentoukas Theodore , Pispas Stergios 
Published: August 2020

AbstractThis study involves the investigation of the complexation ability of poly(2‐[dimethylamino]ethyl methacrylate)‐b‐poly(hydroxypropyl methacrylate) (PDMAEMA‐b‐PHPMA) amphiphilic pH and thermoresponsive block copolymers, and their quaternized counterparts QPDMAEMA‐b‐PHPMA, toward short DNA in aqueous solutions. The PDMAEMA‐b‐PHPMA amphiphilic block copolymers present various self‐assembly characteristics when inserted into aqueous media, depending on the composition, the solubilization protocol, the acidity and the temperature of the aqueous media. Copolymer aggregates‐DNA interactions and nanostructure formation after complexation are investigated by dynamic light scattering and intensity measurements in aqueous solutions in a fixed temperature range, utilizing two different solubilization protocols for the copolymers. Ethidium bromide assays by fluorescence spectroscopy and ζ‐potential measurements were also utilized to investigate the structure and properties of the DNA/copolymer polyplexes. The interpretation of such physicochemical characterization provides extra comprehension of the novel (Q)PDMAEMA‐b‐PHPMA copolymers self‐assembly characteristics and assesses their ability for DNA complexation, stabilization, and delivery.
Automated aerosol puffers effectively deliver 1‐OCTEN‐3‐OL, an oviposition antagonist useful against spotted‐wing drosophila
Authors: Stockton Dara G , Wallingford Anna K , Cha Dong H , Loeb Gregory M 
Published: August 2020

AbstractBACKGROUNDAutomated aerosol puffers releasing behaviorally active volatile organic compounds can deter insect pests in crops. During 2016, we tested the efficacy of aerosol puffer arrays emitting 1‐octen‐3‐ol at reducing Drosophila suzukii oviposition in fall‐bearing raspberries in Western New York State. During 2017, we compared the performance of aerosol puffers with a passive diffusion release method (vial dispensers), as well as puffer timing and placement within the field.RESULTSDuring 2016, we found that octenol application in the field via aerosol puffer systems resulted in a 20% decrease in D. suzukii oviposition compared to control plots. During 2017, we found that aerosol puffers releasing octenol were 42–55% more effective than vial dispensers at deterring oviposition. We also found that a discontinuous application of octenol during dawn and dusk was sufficient to deter D. suzukii oviposition equivalent to continuous applications throughout the day. Although we observed no differences in infestation depending on puffer placement, low fly populations at the time of the trial may have affected the data.CONCLUSIONSOur data indicate that automated aerosol puffer systems may reduce D. suzukii infestation to a greater extent than vial dispensers. If adopted, a discontinuous puffer release schedule may protect both economic and ecological interests by reducing the amount of material required to achieve efficacy. Further research on puffer placement is needed to determine whether perimeter applications are effective in larger scale field research and in combination with attractants as part of a push‐pull management system.