bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic studies discover novel coding and non‐coding mutations in patients with Wilson's disease in China
Authors: Huang Chenjun , Fang Meng , Xiao Xiao , Gao Zhiyuan , Wang Ying , Gao Chunfang 
Published: April 2022

AbstractObjectivesWilson disease (WD) is a rare autosomal recessive genetic disorder associated with various mutations in the ATP7B gene and leads to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre‐symptomatic WD. Genetic testing provides an accurate and effective diagnostic method for the early diagnosis of WD.MethodsWe recruited 18 clinically diagnosed WD patients from 16 unrelated families and two independent individuals. The next‐generation sequencing of the ATP7B gene was performed. The 293T cell lines were divided into wild‐type (WT) ATP7B and mutated ATP7B groups. Cell proliferation was determined by Cell Counting Kit‐8 (CCK‐8) assay and apoptosis was detected by Annexin V/propidium iodide (PI) assays.ResultsPedigree analysis showed that compound heterozygous variants (17/18, 94.44%) were present in the majority of WD patients. A total of 33 ATP7B gene variants were identified, including three variants with uncertain significance (VUS) [two splice mutations (c.51+2T>G, c.1543+40G>A) and one frameshift mutation (c.3532_3535del)]. The CCK‐8 and apoptosis assays demonstrated that the VUS of ATP7B could significantly affect the transportation of copper.ConclusionsThe study revealed genetic defects of 16 Chinese families and two independent individuals with WD, which enriched the mutation spectrum of the ATP7B gene worldwide and provided valuable information for studying the mutation types of ATP7B in the Chinese populations. Genetic testing in WD patients is necessary to shorten the time to initiate therapy, reduce damage to the liver and improve the prognosis.
Parental exposure of Tadalafil has beneficial effect on reflexive motor behaviors in mice offspring
Authors: Imani Mohammad Hassan , Hassanpour Shahin , Asghari Ahmad , Khaksar Ehssan 
Published: April 2022

AbstractTadalafil has positive effects on neurodevelopment and antioxidant defense system, but there is no information for its possible role during gestation on reflexive motor behavior in offspring. So current study determined the effect of prenatal exposure to the Tadalafil on reflexive motor behaviors and antioxidant activity in mice offspring and antidepressive behaviors in postpartum dams. Forty pregnant female NMRI mice were allocated into four groups. In control group, mice received water while in Groups 2–4, female mice orally gavage with Tadalafil (0.4, 0.8, and 1.6 mg/kg) at gestation day (GD) 5, 8, 11, 14, and 17, respectively. Following delivery, pups were selected and reflexive motor behaviors determined using ambulation, hind‐limb foot angle, surface righting, hind‐limb strength, grip strength, front‐limb suspension, and negative geotaxis tests. Also, serum malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GPx), and total antioxidant status (TAS) were determined in offspring. On Day 2 postpartum, antidepressant activity of Tadalafil was determined by open field test (OFT), rotarod, forced swimming test (FST), and tail suspension test (TST) in dams. Based on the findings, maternal exposure to Tadalafil improved ambulation score, hind‐limb suspension score, grip strength, and front‐limb suspension in offspring (P < 0.05). Prenatal exposure to Tadalafil decreased surface righting, hind‐limb foot angle, and negative geotaxis in offspring (P < 0.05). Tadalafil decreased blood MDA and increased SOD and GPx levels in offspring (P < 0.05). Tadalafil significantly decreased immobility time in FST and TST and increased number of squares crossed in OFT and spending time on rotarod on postpartum mice (P < 0.05). These results suggested that parental exposure of Tadalafil has positive effect on reflexive motor and postpartum behaviors.
Challenges in linking soil health to edge‐of‐field water quality across the Great Lakes basin
Authors: Fermanich Kevin , Meyers Molly , Loken Luke C. , Bischoff‐Gray Marianne , Turco Ron , Stahlheber Karen , Duriancik Lisa , Dornbush Mathew , Komiskey Matt 
Published: April 2022

AbstractTo better understand agricultural nutrient losses, we evaluated relationships between management (e.g., manure and tillage), soil health measurements, and resulting edge‐of‐field (EOF) surface water quality. This work was conducted before or early into conservation implementation at 14 Great Lakes Restoration Initiative EOF sites spanning Wisconsin, Michigan, Indiana, Ohio, and New York. Analyses of site characteristics (hydroclimate, management, catchment properties) along with 3 yr of soil health measurements (chemical, biological, and physical properties) showed EOF‐nutrient export depended on both site and soil properties. A pattern emerged whereby sites not receiving manure and sites with manure defined opposite ends of several gradients for soil and water data. Sites receiving manure had increased microbial activity, organic matter (3.2 vs. 2.7%), and soil test phosphorus (P) (2.8 times more) relative to sites without manure. Suspended sediments (SS), total P (TP), and total nitrogen (TN) in EOF surface runoff varied over three to five orders. Multivariate analysis among sites showed covariant linkages between soil nutrients, soil C, microbial properties, and nutrients in EOF water. There were positive univariate relationships between water‐extractable soil P and annual EOF‐water concentrations and yields of orthophosphate, TP, TN, and SS (p < .01). Some soil physical properties (e.g., bulk density and infiltration) also covaried among sites but were not consistently related to runoff index or water yield variables. Given the observed among‐site variability, we were not able to isolate desirable soil health signals on EOF surface water quality.
Rapid diagnosis of papillary thyroid carcinoma with machine learning and probe electrospray ionization mass spectrometry
Authors: Wang Ye , Chen Zhenhe , Shima Keisuke , Zhong Dingrong , Yang Lei , Wang Qingyang , Jiang Ruiying , Dong Jing , Lei Yajuan , Li Xiaodong , Cao Lei 
Published: April 2022

AbstractFrozen section examination could provide pathological diagnosis for surgery of thyroid nodules, which is time‐consuming, skill‐ and experience‐dependent. This study developed a rapid classification method for thyroid nodules and machine learning. Total 69 tissues were collected including 43 nodules and 26 nodule‐adjacent tissues. Intraoperative frozen section was first performed to give accurate diagnosis, and the rest frozen specimen were pretreated for probe electrospray ionization mass measurement. By multivariate analysis of mass scan data, a series compounds were found downregulated in the extraction solution of papillary thyroid carcinoma (PTC), but some were found upregulated by mass spectrometry imaging. m/z 758.5713 ([PC[34:2] + H]+), m/z 772.5845 ([PC[32:0] + K]+), and m/z 786.6037 ([PC[36:2] + H]+) were firstly identified as potential biomarkers for nodular goiter (NG). Machine learning was employed by means of support vector machine (SVM) and random forest (RF) algorithms. For classification of PTC from NG, SVM and RF algorithms exhibited the same performance and the concordance was 94.2% and 94.4% between prediction and pathological diagnosis with positive and negative mass dataset, respectively. For the classification of PTC from PTC adjacent tissues, SVM was better than RF and the concordance was 93.8% and 83.3% with positive and negative mass dataset, respectively. With the identified compounds as training features, the sensitivity and specificity are 87.5% and 88.9% for the test set. The developed method could also correctly predict the malignancy of one medullary thyroid carcinoma and one adenomatous goiter (benign). The diagnosis time is about 10 min for one specimen, and it is very promising for the intraoperative diagnosis of papillary thyroid carcinoma.
Assessing electrodiagnostic skills among residents and fellows: Relationships between workplace‐based assessments using the Electromyography Direct Observation Tool and other measures of trainee performance
Authors: Leep Hunderfund Andrea N. , Santilli Ashley R. , Rubin Devon I. , Laughlin Ruple S. , Sorenson Eric J. , Park Yoon S. 
Published: April 2022

AbstractIntroduction/AimsGraduate medical education programs must ensure residents and fellows acquire skills needed for independent practice. Workplace‐based observational assessments are informative but can be time‐ and resource‐intensive. In this study we sought to gather “relations‐to‐other‐variables” validity evidence for scores generated by the Electromyography Direct Observation Tool (EMG‐DOT) to inform its use as a measure of electrodiagnostic skill acquisition.MethodsScores on multiple assessments were compiled by trainees during Clinical Neurophysiology and Electromyography rotations at a large US academic medical center. Relationships between workplace‐based EMG‐DOT scores (n = 298) and scores on a prerequisite simulated patient exercise, patient experience surveys (n = 199), end‐of‐rotation evaluations (n = 301), and an American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) self‐assessment examination were assessed using Pearson correlations.ResultsAmong 23 trainees, EMG‐DOT scores assigned by physician raters correlated positively with end‐of‐rotation evaluations (r = 0.63, P = .001), but EMG‐DOT scores assigned by technician raters did not (r = 0.10, P = .663). When physician and technician ratings were combined, higher EMG‐DOT scores correlated with better patient experience survey scores (r = 0.42, P = .047), but not with simulated patient or AANEM self‐assessment examination scores.DiscussionEnd‐of‐rotation evaluations can provide valid assessments of trainee performance when completed by individuals with ample opportunities to directly observe trainees. Inclusion of observational assessments by technicians and patients provides a more comprehensive view of trainee performance. Workplace‐ and classroom‐based assessments provide complementary information about trainee performance, reflecting underlying differences in types of skills measured.
Impact of obesity on the molecular response to a single bout of exercise in a preliminary human cohort
Authors: Vanderboom Patrick , Zhang Xiaoyan , Hart Corey R. , Kunz Hawley E. , Gries Kevin J. , Heppelmann Carrie J. , Liu Yuanhang , Dasari Surendra , Lanza Ian R. 
Published: April 2022

AbstractObjectiveThe health benefits of exercise are well documented, but several exercise‐response parameters are attenuated in individuals with obesity. The goal of this pilot study was to identify molecular mechanisms that may influence exercise response with obesity.MethodsA multi‐omics comparison of the transcriptome, proteome, and phosphoproteome in muscle from a preliminary cohort of lean individuals (n = 4) and individuals with obesity (n = 4) was performed, before and after a single bout of 30 minutes of unilateral cycling at 70% maximal oxygen uptake (VO2 peak). Mass spectrometry and RNA sequencing were used to interrogate the proteome, phosphoproteome, and transcriptome from muscle biopsy tissue.ResultsThe main findings are that individuals with obesity exhibited transcriptional and proteomic signatures consistent with reduced mitochondrial function, protein synthesis, and glycogen synthesis. Furthermore, individuals with obesity demonstrated markedly different transcriptional, proteomic, and phosphoproteomic responses to exercise, particularly biosynthetic pathways of glycogen synthesis and protein synthesis. Casein kinase II subunit alpha and glycogen synthase kinase‐3β signaling was identified as exercise‐response pathways that were notably altered by obesity.ConclusionsOpportunities to enhance exercise responsiveness by targeting specific molecular pathways that are disrupted in skeletal muscle from individuals with obesity await a better understanding of the precise molecular mechanisms that may limit exercise‐response pathways in obesity.
Copy‐number intratumor heterogeneity as high‐risk feature of stage II colon cancer†
Authors: van den Bosch Tom , Miedema Daniël M , Vermeulen Louis 
Published: April 2022

AbstractOverall, the prognosis of patients suffering from stage II colon cancer is relatively favorable. However, a proportion of patients develop a recurrence following surgery. Clinical and histopathological properties that identify high‐risk patients are of limited value and better biomarkers are urgently required. In a recent issue of The Journal of Pathology, Lahoz et al proposed that copy‐number‐based biomarkers could be employed for patient stratification. The authors studied copy‐number alterations (CNAs) at the genomic scale by measuring the total CNA load (the aberrant genome fraction), and at a smaller scale by identifying common arm‐ or cytoband‐level alterations. Both the overall CNA load and specific chromosomal regions were associated with an increased risk of recurrence. Most interestingly, it was demonstrated that copy‐number intratumor heterogeneity, as defined by subclonal CNAs, is associated with poor disease outcome. This study demonstrates that structural genomic aberrations are promising biomarkers for patient stratification in early colon cancer. © 2022 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.
Are fear of cancer recurrence and fear of progression equivalent constructs?
Authors: Coutts‐Bain Daelin , Sharpe Louise , Pradhan Poorva , Russell Hayley , Heathcote Lauren C. , Costa Daniel 
Published: April 2022

AbstractBackgroundThe predominant definition of fear of cancer recurrence (FCR) conflates FCR with fear of progression (FOP). However, this assumption has never been tested. Importantly, if FCR and FOP are distinct and have different predictors, existing interventions for FCR may not be equally effective for survivors who fear progression rather than recurrence of their disease. The present study aimed to determine whether FCR and FOP are empirically equivalent; and whether they are predicted by the same theoretically derived variables.MethodsThree hundred and eleven adults with a history of breast or ovarian cancer were analysed (n = 209, 67% in remission). Exploratory factor analysis was conducted on the items of the FCR Inventory severity subscale and short‐form FOP Questionnaire together. Structural equation modelling was conducted to predict FCR and FOP and determine whether theoretical models accounted equally well for both constructs, and whether models were equally relevant to those with and without current disease.FindingsThe factor analysis demonstrated that the FCR Inventory severity subscale and the short‐form FOP Questionnaire loaded onto distinct, but related, factors which represented FCR and FOP. Structural modelling indicated that risk perception and bodily threat monitoring were more strongly associated with FCR than FOP. However, both FCR and FOP were associated with metacognitions and intrusions.InterpretationThese findings suggest that whilst FCR and FOP are related with some overlapping predictors, they are not the same construct. Hence, it is necessary to ensure that in clinical practice and research these constructs are considered separately.
Chemical control of Acromyrmex lundi (Hymenoptera: Formicidae) in anthropic ecosystems
Authors: Sabattini Julian Alberto , Zanuncio Jose Cola , Lemes Pedro Guilherme 
Published: April 2022

AbstractBackgroundLeaf‐cutting ants are pests in agriculture, forests and pasture and, usually, controlled with toxic baits. The management and control of leaf‐cutting ants is complex as a consequence of its sociability and behavior. We tested three toxic baits with abamectin, fipronil and sulfluramid to control colonies of Acromyrmex lundi Mayr, 1865 (Hymenoptera: Formicidae), in two seasons: ‘Spring 2020’ and ‘Summer 2020/21’, in Argentina.ResultsThe percentage of effective bait carried in the spring was similar between treatments with 80%, 80% and 90% for those with abamectin, fipronil and sulfluramid. The ant flow of A. lundi decreased after toxic bait applications compared to the control through time in all treatments. This activity was higher in the spring than in the summer. The baits reduced the foraging activity of A. lundi from 5 to 96 days after application (DAA). Abamectin and fipronil baits controlled 50% and 67% of the nests in the spring, and 20% and 43% at 96 DAA in the summer. Sulfluramid was the best treatment, killing 90% of A. lundi nests.ConclusionThe baits decrease the foraging activity of A. lundi until 96 DAA, with total or partial death of its colonies varying between treatments. The ant symptoms with the sulfluramid bait appeared faster than with fipronil and may be a result of the low level of carry‐over or differences in the chemical quality of the active ingredients. © 2022 Society of Chemical Industry.
Enhanced production of water‐soluble cinmethylin metabolites by Lolium rigidum populations with reduced cinmethylin sensitivity
Authors: Goggin Danica E , Cawthray Gregory R , Busi Roberto , Porri Aimone , Beckie Hugh J 
Published: April 2022

AbstractBackgroundCinmethylin, a pre‐emergence herbicide inhibiting fatty acid thioesterase activity, has recently been introduced to Australian cereal cropping for the control of Lolium rigidum Gaud. (annual ryegrass). To date, there have been no confirmed cases of cinmethylin resistance identified in this species, but some populations exhibit reduced sensitivity to this herbicide. To explore the mechanism which contributes to reduced sensitivity of annual ryegrass to cinmethylin, the extent and nature of cinmethylin metabolism, using carbon‐14 (14C)‐labelled herbicide, were analysed in three reduced‐sensitivity annual ryegrass populations, alongside a susceptible population and cinmethylin‐tolerant wheat as controls.ResultsAll samples showed the same metabolite profile, with the extent of production of a specific water‐soluble metabolite being correlated to the level of herbicide sensitivity. Application of the cytochrome P450 inhibitor phorate caused a decrease in water‐soluble metabolite production as well as seedling growth in the presence of cinmethylin, indicating that reduced cinmethylin sensitivity in annual ryegrass could be wholly or partially due to oxidative modification of cinmethylin.ConclusionBecause annual ryegrass has the potential to metabolize cinmethylin in the same way as wheat, careful stewardship is required to ensure the longevity of this herbicide. © 2022 The Authors. Pest Management Science published by John Wiley & Sons Ltd on behalf of Society of Chemical Industry.
Silencing tyrosine hydroxylase or dopa decarboxylase gene disrupts cuticle tanning during larva‐pupa‐adult transformation in Henosepilachna vigintioctopunctata
Authors: Ze Long‐Ji , Wang Pei , Peng Ying‐Chuan , Jin Lin , Li Guo‐Qing 
Published: April 2022

AbstractBACKGROUNDThe 28‐spotted potato ladybird, Henosepilachna vigintioctopunctata, is a notorious defoliator of many solanaceous and cucurbitaceous plants. Tyrosine hydroxylase (TH) and dopa decarboxylase (DDC) are responsible for cuticle tanning pathway in insects.RESULTSWe identified HvTH and HvDDC in H. vigintioctopunctata, and found that high levels of them were accumulated just before or right after molting. Injection of dsHvTH or feeding 3‐iodo‐tyrosine (3‐IT) at the third instar larval stage repressed tanning of the larval cuticle, reduced larval feeding, inhibited larval growth, and consequently caused 100% of larval mortality. Knockdown of HvDDC at the third instar larval stage hardly affected the coloration of larval head, and partially inhibited pigmentation of larval bodies and around 80% of the HvDDC RNAi larvae developed into albino pupae and adults. Moreover, depletion of HvTH or HvDDC at the fourth instar larval stage resulted in albino pupae and adults. The HvTH or HvDDC hypomorph adults fully or partially failed to remove the larval/pupal exuviae, possessed pale and abnormal wings, and poorly tanned heads and bodies, and eventually, struggled for several days without feeding on leaves before death.CONCLUSIONThese results show that TH and DDC play key roles in larval and adult cuticle tanning and development in H. vigintioctopunctata. Also, these findings suggest that dopa‐ and dopamine‐originated pigments are essential for larval and adult feeding behavior and the molting process during emergence. © 2022 Society of Chemical Industry.
Deep level centers in electron‐irradiated silicon crystals doped with copper at different temperatures
Authors: Yarykin Nikolai , Weber Jörg 
Published: April 2022

The effect of bombardment with energetic particles on the deep‐level spectrum of copper‐contaminated silicon wafers is studied by space charge spectroscopy methods. The p‐type FZ‐Si wafers were doped with copper in the temperature range of 645–750 °C and then irradiated with the 1015 cm−2 fluence of 5 MeV electrons at room temperature. Only the mobile Cui species and the CuPL centers are detected in significant concentrations in the non‐irradiated Cu‐doped wafers. The properties of the irradiated samples are found to qualitatively depend on the copper in‐diffusion temperature Tdiff. For Tdiff > 700 °C, the irradiation partially reduces the Cui concentration and introduces additional CuPL centers while no standard radiation defects are detected. If Tdiff was below ∼700 °C, the irradiation totally removes the mobile Cui species. Instead, the standard radiation defects and their complexes with copper appear in the deep‐level spectrum. A model for the defects reaction scheme during the irradiation is derived and discussed.DLTS spectrum of the Cu‐contaminated and then irradiated silicon qualitatively depends on the copper in‐diffusion temperature.
Dislocation trails in Si: Geometry and electrical properties
Authors: Orlov V. I. , Yakimov E. B. , Yarykin N. 
Published: April 2022

Dislocation trails, the quasi‐2D defects left behind gliding dislocations, are studied in terms of the dislocation motion geometry. The individual dislocation half‐loops are introduced in silicon crystals at 600 °C from the sources on the tensile {100} surface. The electrically active dislocations and dislocation trails are revealed by their recombination activity using the LBIC and EBIC techniques. It is found that only one 60° segment of the dislocation half‐loop creates the dislocation trail, while the screw and differently aligned 60° segments do not. Reversal of the dislocation motion is observed to alternate the role of the 60° segments in the dislocation trail formation. All results are consistent with the model which assumes that the electrically active dislocation trails are created by the dissociated 60° dislocation with the 90° leading partial.LBIC image of the defects formed by expansion of the dislocation half‐loops created from the tensile {100} silicon surface.
Retraction: Stress Relaxation Mechanism in the Si‐SiO2 System and Its Influence on the Interface Properties
Authors: Kropman Daniel , Seeman Viktor , Dolgov Sergei , Heinmaa Ivo , Medvid Artur 
Published: April 2022

The above article,1 published online on 22 July 2016 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by decision of the journal Editor‐in‐Chief, Stefan Hildebrandt, and Wiley‐VCH GmbH & Co. KGaA. The retraction has been made since essential contents of the article have already been published by the corresponding author in Phys. Status Solidi A 2003, 198, 297; Physica B 2009, 404, 5153; IOP Conf. Ser.: Mater. Sci. Eng. 2011, 25, 012018; Solid State Phenom. 2011, 178–179, 259.The corresponding author apologizes on behalf of his colleagues for the situation.[1] D. Kropman, V. Seeman, S. Dolgov, I. Heinmaa, A. Medvid, Phys. Status Solidi C 2016, 13, 790.