bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
Authors: Su Jiasun , Lu Weiliang , Li Mengting , Zhang Qiang , Chen Fei , Yi Shang , Yang Qi , Yi Sheng , Zhou Xunzhao , Huang Limei , Shen Yiping , Luo Jingsi , Qin Zailong 
Published: March 2021

AbstractBackgroundCongenital hydrocephalus‐3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe hydrocephalus and cerebellar abnormalities, the onset of the disease occurs in utero even resulting in fetal death. A very limited spectrum of WDR81 pathogenic variants had been reported in three unrelated families with HYC3. This study aims at presenting novel compound heterozygous frameshift variants in WDR81 in a Chinese fetus.MethodsWhole‐exome sequencing (WES) was performed for a fetus with multiple congenital anomalies including sever hydrocephalus, cleft lip and palate, hydrops fetalis, hepatomegaly, and cerebellar hypoplasia. Sanger sequencing was performed to confirm the origin of the variants subsequently. Variants classification was based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines.ResultsTwo novel heterozygous variants c.146_147insG (p.Thr52fs) and c.673delC (p.Leu225fs) in WDR81 were identified. Sanger sequencing revealed that the c.146_147insG mutation was maternal origin and the c.673delC mutation was paternal origin. Both variants were pathogenic according to the ACMG/AMP guidelines.ConclusionThe present study expands the mutation spectrum of WDR81 and help further define the genotype–phenotype correlations of HYC3. WDR81‐related HYC3 were highly clinical heterogeneity. We suggested that fetal hydrocephalus with extracerebral manifestations may be suggestive of WDR81 deficiency and WES is effective for achieving a conclusive diagnosis for disorder.
Motion‐insensitive diffusion imaging of the brain using optical tracking and dynamic sequence updates
Authors: Kaso Artan , Ernst Thomas 
Published: March 2021

PurposeDiffusion‐weighted imaging (DWI) is sensitive to head movements, which may cause signal losses because of motion‐induced gradient imbalances. Prospective motion correction using fast optical tracking can attenuate these artifacts. Approaches include quasicontinuous updates of gradients and radiofrequency (RF) pulses or dynamically applying a rebalancing gradient to restore the gradient balance, but these prior methods used bipolar diffusion gradients. The goal of this project was to develop and evaluate a motion‐insensitive implementation for the more common monopolar diffusion sequence.MethodsA monopolar diffusion sequence was developed with motion updates before each RF pulse and each diffusion‐weighting gradient. The sequence was tested in a phantom and human brain at b = 1000 s/mm2 and rotational velocities up to 20°/s. Motion sensitivity, signal losses, and in vivo image profiles were compared between scans with and without intrasequence motion updates.ResultsWith typical motion parameters, intrasequence motion updates with optimal parameters reduced the motion sensitivity of DWI (motion‐induced gradient moment imbalance) sevenfold. Optimal results were achieved by matching the echo time of the pulse sequence to an even multiple of the tracking system frame‐to‐frame period. Average signal losses and the frequency of signal dropouts in phantom and in vivo measurements were reduced when intrasequence updates were enabled, and quality measures of DTI analyses were improved.ConclusionA correction scheme for the monopolar DWI sequence can reduce the motion sensitivity of brain DWI up to sevenfold compared with an implementation without intrasequence updates.
Strategies to improve intratrain prospective motion correction for turbo spin‐echo sequences with constant flip angles
Authors: Gao Xiang , Hucker Patrick , Hennig Jürgen , Zaitsev Maxim 
Published: March 2021

PurposeTo investigate the effects of prospective motion correction on turbo spin echo sequences and optimize motion correction approaches, mitigating signal dropout artifacts caused by the imperfections of motion tracking data.MethodsSignal dropout artifacts caused by undesired phase deviations introduced by tracking errors are analyzed theoretically. To reduce the adverse effect of such deviations, two approaches are proposed: (1) freezing the correction for example, for even‐numbered or higher number of echoes and (2) shifting the correction event prior to the left crusher gradient preceding the refocusing pulse. A comprehensive analysis is presented, including both signal simulations and experimental verifications in phantoms and in vivo. Performance of the proposed approach is validated in two healthy volunteers imaged under two types of motion conditions simulating inadvertent fast motions associated with discomfort and continuous large motions.ResultsThe results show that the proposed optimization is able to efficiently correct for the motion artifacts and at the same time avoid signal dropout artifacts. Specifically, performing correction every 4th echo prior to the left crusher gradient was shown to improve image quality.ConclusionAn optimization approach is proposed to exploit the potential of external tracking for intra‐echo‐train motion artifact correction for turbo spin echo sequences.
Biocompatible nanoreactors of catalase and nanozymes for anticancer therapeutics
Authors: Munjal Tanya , Dutta Saikat 
Published: March 2021

AbstractSignificant progress has laid the groundwork in understanding the fundamental role of catalase enzyme and catalase‐like nanozymes, notably with the emergence of nano‐bioreactors which are promoting nanomaterials‐based antitumor therapeutic strategies. The radiotherapy techniques such as photodynamic, photothermal, photoacoustic and along with chemotherapy are extensively used for interrupting microenvironment by exerting to locally applied ionizing‐radiations. Nevertheless, tumor therapy not only deficient in therapeutic efficiency for various solid tumors but also alerts significant side effects. The convergence of nano‐bioreactor driven catalase delivery at the lysosome of tumor cells with photodynamic therapy (PDT) tool along with the engineered catalase‐like nanozymes enable outstanding efficacy of radiotherapy for in vivo target specific cell population. Herein, the state of the art of catalase delivering nano‐bioreactors that activate the catalase delivery in tumor microenvironment (TME) are reviewed. This was linked with the functional mimic catalase‐like engineered nanozymes for improving the challenges in the TME for a wide‐range of cell lines in vivo. Such nanoarchitecture‐based strategies of catalase and synthetic nanozymes include lysosomal upregulation of H2O2 in TME, image‐based probing, and mechanism of catalase action for reactive oxygen species generation which are likely to amplify efficiency of cancer therapy.
A randomized controlled trial of an innovative, user‐friendly, interactive smartphone app‐based lifestyle intervention for weight loss
Authors: Vaz Cherie Lisa , Carnes Nicholas , Pousti Bobak , Zhao Huaqing , Williams Kevin Jon 
Published: March 2021

AbstractObjectivesMost electronically delivered lifestyle interventions are labor intensive, requiring logging onto websites and manually recording activity and diet. Cumbersome technology and lack of a human coach may have contributed to the limitations of prior interventions. In response, the current program of research created a comprehensive electronically delivered lifestyle intervention using a user‐friendly, interactive, smartphone app‐based model, and evaluated it in a randomized controlled trial.MethodsTwenty‐eight adults, body mass index 25–42 kg/m2, with smartphones and sedentary jobs, were randomized to the intervention, along with conventional outpatient weight‐management visits every 3 months, or to a wait‐listed control group that received only weight‐management visits. The intervention included wearable activity trackers, smartscales, food photography logs, physician‐driven app‐based behavioral coaching, and peer support via the app. The prespecified primary outcome was a comparison of change in weight in kilograms, in the intervention versus control group at 6 months.ResultsAt 6 months, the intervention group experienced a statistically significant weight change of −7.16 ± 1.78 kg (mean ± SE, 95% CI −11.05 to −3.26, p < 0.01), which differed from the weight change in controls by −4.16 ± 2.01 kg (95% CI −8.29 to −0.02, p < 0.05, prespecified primary outcome). Weight change in the control group was −3.00 ± 1.05 kg (95% CI −5.27 to −0.73, p < 0.05). Waist circumference and hemoglobin A1c significantly improved (intervention vs. control: p < 0.01, p < 0.05, respectively, prespecified secondary outcomes). Weight change in the intervention group correlated with numbers of food photographs participants shared (rho = −0.86, p < 0.01), numbers of their text messages (rho = −0.80, p < 0.01), number of times and days each participant stepped on the smartscale (rho = −0.73, p < 0.01; rho = −0.608, p < 0.05, respectively), and mean daily step counts (rho = −0.55, p < 0.05).ConclusionThis app‐based electronically delivered lifestyle intervention produced statistically significant, clinically meaningful weight loss and improved metabolic health. Engagement with the intervention correlated strongly with weight loss. Given the limited sample size, larger and longer studies of this intervention are needed.
Excess sucrose intake during pregnancy programs fetal brain glucocorticoid receptor expression in female but not male C57Bl/6J mice
Authors: Kulhanek Debra , Rao Raghavendra B. , Paulsen Megan E. 
Published: March 2021

AbstractBackgroundSex‐specific mechanisms explaining the association between mothers with obesity and the development of obesity in children are poorly characterized. Permanent changes in fetal brain glucocorticoid receptor (GR) expression caused by exposure to overnutrition in utero may program aberrant energy homeostasis, thereby predisposing the offspring to obesity. This study explores sex differences in brain GR expression using an established mouse model of overnutrition during pregnancy.MethodsFemale C57Bl/6J mice were fed control (CON) or high‐fat–high‐sucrose (HFHS) diets. Dam cholesterol, insulin, and triglycerides were measured by colorimetric assays. Fetal corticosterone exposure was measured by placental Abca1, Hsd11β1, Hsd11β2, and brain Nr3c1 (GR); Pomc expression measured by RT‐qPCR.ResultsFemale, but not male, HFHS fetuses had 46% decreased brain GR and twofold increased Pomc expression. There was decreased Abca1 and Hsd11β1 but not Hsd11β2 expression in HFHS placentas. Caloric and sucrose intake, but not fat intake, in dams inversely correlated with fetal GR expression in both sexes. Excess sucrose consumption by dams inversely correlated with female fetal GR and directly correlated with female fetal Pomc expression.ConclusionsExcess sucrose consumption in pregnant dams caused lower GR and higher Pomc expression in the female fetal brain. Clinical investigation of excess sucrose intake during pregnancy and its subsequent effect on hypothalamic‐pituitary‐adrenal axis activity and appetite in offspring may lead to novel, sex‐specific obesity prevention strategies in the development of obesity in children.
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals
Authors: Lewis Celine , Hammond Jennifer , Klapwijk Jasmijn E. , Harding Eleanor , Lou Stina , Vogel Ida , Szepe Emma J. , Hui Lisa , Ingvoldstad‐Malmgren Charlotta , Soller Maria J. , Ormond Kelly E. , Choolani Mahesh , Hill Melissa , Riedijk Sam 
Published: March 2021

AbstractObjectivesTo conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES).MethodsSemi‐structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management.ResultsThere was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines.ConclusionHealth professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches.
New contributions from thermal and dielectric techniques to the understanding of the dynamic properties of medium to long chain poly (propylene glycols)
Authors: Diogo Hermínio P. , Moura Ramos Joaquim J. 
Published: March 2021

AbstractThe molecular mobility of poly (propylene glycols) with molecular weights between 2000 and 18,200 g mol−1 was studied in the amorphous solid state, in the region of the glass transition and in the rubbery state; the experimental techniques used were differential scanning calorimetry (DSC) and thermally stimulated depolarization currents (TSDC). It was found that the glass transition temperature increases slightly with MW and tends to a limit value: TgDSC = −67°C, TgTSDC = −73°C.The different types of molecular mobility were analyzed: below Tg the secondary relaxations, and above this temperature the normal mode, were characterized in detail using TSDC; in the glassy transformation region, around Tg, the main relaxation was analyzed by both DSC and TSDC. It was found the dynamic fragility, m, behaves as independent of the molecular weight in the studied range: mDSC = 74 and mTSDC = 92. The TSDC results also show that, without influencing the kinetics of the segmental relaxation, the increase in molecular weight slows down the chain relaxation.
Making waves in Breedbase: An integrated spectral data storage and analysis pipeline for plant breeding programs
Authors: Hershberger Jenna , Morales Nicolas , Simoes Christiano C. , Ellerbrock Bryan , Bauchet Guillaume , Mueller Lukas A. , Gore Michael A. 
Published: March 2021

AbstractVisible and near‐infrared spectroscopy (Vis‐NIRS) is a promising tool for increasing phenotyping throughput in plant‐breeding programs, but existing analysis software packages are not optimized for a breeding context. Additionally, commercial software options are often outside of budget constraints for some breeding and research programs. To that end, we developed an open‐source R package, waves, for the streamlined analysis of spectral data with several cross‐validation schemes to assess prediction accuracy. waves is compatible with a wide range of spectrometer models and performs visualization, filtering, aggregation, cross‐validation set formation, model training, and prediction functions for the association of Vis‐NIR spectra with reference measurements. Furthermore, we have integrated this package into the Breedbase family of open‐source databases, expanding the analysis capabilities of this growing digital ecosystem to a number of crop species. Taken together, the standalone and Breedbase versions of waves enhance the accessibility of tools for the analysis of spectral data during the plant breeding process.
Utilizing spatial variability from hyperspectral imaging to assess variation in maize seedlings
Authors: Tirado Sara B. , Dennis Susan St. , Enders Tara A. , Springer Nathan M. 
Published: March 2021

AbstractThere is significant enthusiasm about the potential for hyperspectral imaging to document variation among plant species, genotypes, or growing conditions. However, in many cases the application of hyperspectral imaging is performed in highly controlled situations that focus on a flat portion of a leaf or side‐views of plants that would be difficult to obtain in field settings. We were interested in assessing the potential for applying hyperspectral imaging from a top‐down view to document variation in genotypes and abiotic stresses for maize (Zea mays L.) seedlings grown in controlled environments. A top‐down image of a maize seedling includes a view into the funnel‐like whorl at the center of the plant with several leaves radiating outward. There is substantial variability in the reflectance profile of different portions of this plant. To deal with the variability in reflectance profiles that arises from this morphology we implemented a method that divides the longest leaf into 10 segments of equal length from the center to the leaf tip. We show that there is large variability in the hyperspectral profiles across leaf segments, which are masked when performing whole‐plant averages as tend to be done when analyzing hyperspectral data. We found that using these segments provides improved ability to discriminate different genotypes (B73, Mo17, Ki11, MS71, PH207) and abiotic stress conditions (heat, cold, or salinity stress) for maize seedlings. This provides an approach that can be implemented to help classify genotype and environmental variation for maize seedlings from a top‐down view such as that which would be collected in field settings.
Side‐effects of carbetocin to prevent postpartum hemorrhage: A systematic review and meta‐analysis of randomized controlled trials
Authors: Ai Wen , Zeng Yanfei , Ma Yubo , Liu Li , Fan Dazhi , Wu Song , Zhang Yinghui 
Published: March 2021

AbstractPostpartum hemorrhage (PPH) increases the risk of maternal death worldwide. Heat‐stable carbetocin, a long‐acting oxytocin analog, is a newer uterotonic agent. Clinicians do not fully understand its side‐effects, particularly the unanticipated side‐effects. The aim of this study is to investigate the side‐effects of carbetocin to PPH. The Cochrane Library, Web of Science, PubMed, Elsevier ScienceDirect, Embase, and ClinicalTrials.gov were searched from the inception to September 2020. Randomized controlled trials (RCTs) that considered pregnant women who received carbetocin before delivery and provided at least one adverse event were included. Statistical analysis included random or fixed‐effect meta‐analyses using relative risk. Stratified analyses and sensitivity analyses were also performed. Begger's and Egger's test and funnel plots were used to assess the publication bias. Seventeen RCTs involving 32,702 women were included, and all these studies ranked as medium‐ to high‐quality. Twenty‐four side‐effects were reported. The use of carbetocin had a lower risk of vomiting in intravenously (0.53, 0.30 to 0.93) and cesarean birth (0.51, 0.32 to 0.81) women, and had a slightly higher risk of diarrhea (8.00, 1.02 to 62.79) compared with oxytocin intervention. No significant difference was found among other side‐effects. Evidence from our systematic review and meta‐analysis of 17 RCTs suggested that the risk of vomiting decreased with carbetocin use in the prevention of PPH after delivery.
Glyphosate ban in Mexico: potential impacts on agriculture and weed management
Authors: Alcántara‐de la Cruz Ricardo , Cruz‐Hipolito Hugo E , Domínguez‐Valenzuela José Alfredo , De Prado Rafael 
Published: March 2021

AbstractSince glyphosate was classified as potentially carcinogenic by the International Agency for Research on Cancer, public debate regarding the environmental impact and health risks from its use has intensified. Almost all regulatory agencies throughout the world have concluded that the judicious use of glyphosate does not pose risks to the environment and human health. However, on the last day of 2020 the Mexican government decreed a ban of this herbicide beginning January, 2024. In current Mexican agriculture there are no safer chemical and/or other weed management technologies that allow for the economical substitution of glyphosate for weed control. Many Mexican weed scientists agree that glyphosate use should be reduced, but not banned outright. This decree could have more negative economic and social consequences as well as environmental and human health risks than benefits, which could compromise the countryʼs food and public security. Crop yields are projected by some to decline by up to 40% with this ban, increasing food prices, making food less accessible to low‐income consumers. In addition, a black market for the smuggling and illegal sale of glyphosate is possible. The possible environmental, economic and social impacts caused by the glyphosate ban in Mexico are discussed, emphasizing the impact on weed management. © 2021 Society of Chemical Industry.
Soil health assessment after 40 years of conservation and conventional tillage management in Southeastern Coastal Plain soils
Authors: Ye Rongzhong , Parajuli Binaya , Szogi Ariel A. , Sigua Gilbert C. , Ducey Thomas F. 
Published: March 2021

AbstractConservation tillage (CST) and cover crops are important components of soil health management. In the present study, we applied two independent soil health assessment approaches to evaluate the impacts of 40‐yr CST and additional 4‐yr cover cropping on a range of soil health indicators and the overall soil health in typical southeastern Coastal Plain soils. Soils were collected at 0–15 cm and analyzed for physical, chemical, and biological indicators. The Soil Management Assessment Framework (SMAF) and Cornell's Comprehensive Assessment of Soil Health (CASH) were used to calculate soil health indices. When compared to conventional tillage, 40‐yr CST increased active carbon (C) from 301 to 420 mg kg–1 and organic nitrogen (N) mineralization potentials from 0.78 to 0.91 mg kg–1 d–1, but it reduced soil electrical conductivity from 133 to 101 μs cm–1. No difference in soil aggregate stability, total C, extractable phosphorous and potassium, microbial biomass C, respiration, and glucosidase activities were observed between the two tillage treatments. Cover cropping had no impacts on any measured variables, except that it increased soil total N. Regardless of tillage and cover cropping, both the SMAF and CASH scoring functions suggested no changes in overall soil health. Soil organic C (SOC) was the only indicator positively correlated with both the SMAF and CASH indices, indicating its importance in maintaining the health of the tested soils. Moreover, CASH index recommended improving soil structure and SOC as the management priority to maintain or improve the overall soil health. Increasing organic inputs along with CST is seemingly the optimal management option.