bluuebunny/crossref_metadata_2025_split huggingface dataset:
Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population
Authors: Bernstein‐Molho Rinat , Galmor Lee , Laitman Yael , Segev Shlomo , Friedman Eitan 
Published: June 2021

BackgroundSeveral recurring pathogenic variants in BRCA1/BRCA2 and other cancer susceptibility genes are encountered in ethnically diverse Jewish populations. The yield of genotyping for these recurring pathogenic variants in healthy Israeli individuals unselected for ethnicity, sex, or a family history of cancer has not been previously reported.MethodsIndividuals voluntarily participating in annual medical surveillance at the Institute of Medical Screening of Sheba Medical Center were offered genotyping for predominant pathogenic variants in BRCA1/BRCA2 and recurring variants in CHEK2, MUTYH, APC, and the Lynch syndrome genes via a chip‐based assay at the oncogenetic service of Sheba Medical Center from May 15, 2018, to December 15, 2020. All study participants were unrelated to one another. The study was approved by the Sheba ethics committee.ResultsOverall, 1764 individuals, including 1008 females (57%), with a mean age of 54.2 years (range, 25‐86 years) were genotyped. The yield of the testing was 4% (71 of 1764), and it was higher in Ashkenazi Jews (AJs) and mixed AJ–non‐AJ participants (4.75% [58 of 1222]; 1.8% for BRCA1/BRCA2 pathogenic variants) than non‐AJ patients (2.2% [9 of 401]; 1% for BRCA1 pathogenic variants). When BRCA1/BRCA2 pathogenic variants were excluded, 2.44% carried low‐penetrance variants, including CHEK2 c.1283C>T (n = 3), APC c.3920T>A (n = 36), and heterozygous MUTYH c.1187G>A (n = 4). A family history of cancer was not associated with a higher yield of pathogenic variant detection.ConclusionsThe observed rates of positive genotyping in a healthy, unselected, multiethnic Israeli population warrant consideration of the inclusion of targeted genotyping of selected pathogenic variants in high‐penetrance and perhaps lower penetrance cancer susceptibility genes for all Jewish individuals in Israel, regardless of their ethnicity or family history of cancer.
Load‐based node ranked low‐energy adaptive clustering hierarchy: An enhanced energy‐efficient algorithm for cluster head selection in wireless sensor networks
Authors: Mehta Deepak , Saxena Sharad 
Published: June 2021

AbstractA Wireless Sensor Network typically uses a large number of power‐constrained sensor nodes for sensing phenomenal data and for its processing. The lifetime of a sensor node is limited and this is a great challenge for researchers to sustain the network for a long time. Since, the data transmission from a sensor node to the base station is more power consuming, the hierarchical routing protocols play a major role in multihop communication and to prolong the network life time. It uses a clustering approach with an overhead of cluster head (CH) selection to attain this. This overhead needs proper addressing and to be reduced by some means. The work in this paper employs a new approach based on low‐energy adaptive clustering hierarchy (LEACH) and considers network load for electing CH in addition to number of links, residual sensor energy and distance. Here, energy and time are used for calculating load on a CH. The simulation results show that the proposed protocol performs better than LEACH, LEACH‐I, and NR‐LEACH algorithms on the parameters of average energy ratio throughput, end‐to‐end delay, packet delivery ratio, and a number of alive nodes.
Accounting for heterogeneous genotypic variance of progenies within populations in autogamous plant breeding: An evaluation in common bean
Authors: Salvador Felipe V. , dos Anjos Rafael S. R. , Marçal Tiago de S. , Rocha João R. do A. S. de C. , Pereira Gabriela dos S. , de Paula Ramon G. , Carneiro Pedro C. S. , Carneiro José E. de S. 
Published: June 2021

AbstractIn breeding of autogamous plants, breeders often deal with the evaluation of progenies derived from multiple populations. We hypothesize that selection strategies that account for the heterogeneous genotypic variability of progenies within these populations associated with the population means may improve progeny selection. Thus, the objective of this work was to use two mixed models with progenies nested to population effects to obtain and evaluate indexes for the genotypic values of progenies. We used simulations and a real dataset from a multipopulation recurrent selection program of common bean (Phaseolus vulgaris L.). Progenies from 20 populations were evaluated for grain yield in two different generations. The three studied indexes consider the merit of populations, but differently account for the genotypic variability of progenies within populations: index gM uses a mean estimate, index gH is based on heterogeneous estimates, and the index gW also uses a mean estimate but is weighted by the selection accuracy within populations. The studied populations were highly diverse in both generations, justifying the implementation of the two models to obtain the population means and specific estimates of genotypic variability of progenies for each population. The comparison among indexes suggested that index gW more appropriately explored the information from the genotypic profiles of the common bean studied populations in the genotypic values of progenies. Thus, the index gW has the potential to help breeders of self‐pollinated plant species to improve progeny selection from multiple populations.
The AGE receptor, OST48 drives podocyte foot process effacement and basement membrane expansion (alters structural composition)
Authors: Zhuang Aowen , Yap Felicia Y. T. , Borg Danielle J. , McCarthy Domenica , Fotheringham Amelia , Leung Sherman , Penfold Sally A. , Sourris Karly C. , Coughlan Melinda T. , Schulz Benjamin L. , Forbes Josephine M. 
Published: June 2021

AbstractAimsThe accumulation of advanced glycation end products is implicated in the development and progression of diabetic kidney disease. No study has examined whether stimulating advanced glycation clearance via receptor manipulation is reno‐protective in diabetes. Podocytes, which are early contributors to diabetic kidney disease and could be a target for reno‐protection.Materials and methodsTo examine the effects of increased podocyte oligosaccharyltransferase‐48 on kidney function, glomerular sclerosis, tubulointerstitial fibrosis and proteome (PXD011434), we generated a mouse with increased oligosaccharyltransferase‐48kDa subunit abundance in podocytes driven by the podocin promoter.ResultsDespite increased urinary clearance of advanced glycation end products, we observed a decline in renal function, significant glomerular damage including glomerulosclerosis, collagen IV deposition, glomerular basement membrane thickening and foot process effacement and tubulointerstitial fibrosis. Analysis of isolated glomeruli identified enrichment in proteins associated with collagen deposition, endoplasmic reticulum stress and oxidative stress. Ultra‐resolution microscopy of podocytes revealed denudation of foot processes where there was co‐localization of oligosaccharyltransferase‐48kDa subunit and advanced glycation end‐products.ConclusionsThese studies indicate that increased podocyte expression of oligosaccharyltransferase‐48 kDa subunit results in glomerular endoplasmic reticulum stress and a decline in kidney function.
Access to α‐ and β‐Hydroxyamides and Ureas Through Metal‐Catalyzed C≡N Bond Hydration and Transfer Hydration Reactions
Authors: Crochet Pascale , Cadierno Victorio 
Published: June 2021

AbstractThe hydration of nitriles is an important transformation because the resulting primary amides present a huge number of applications in synthetic organic chemistry, as well as industrial and pharmaceutical interest. Metallic compounds (complexes, oxides, and nanoparticles) are known to catalyze the hydration of nitriles by activating the nitrile substrate, the water molecule, or both partners, upon coordination. In this Minireview article, the application of metal‐based catalysts in the hydration of α‐ and β‐hydroxynitriles and cyanamides is comprehensively discussed. Compared to more classical organonitriles, little attention has been paid to the hydration of these particular class of substrates despite the synthetic relevance of the respective carboxamides, i. e. α‐/β‐hydroxyamides and ureas. Transfer hydration strategies, in which a water surrogate is employed to convert the C≡N group into the C(=O)NH2 one, are also covered.
The effect of a pain educational video intervention upon child pain‐related outcomes: A randomized controlled study
Authors: Rheel Emma , Ickmans Kelly , Wauters Aline , Van Ryckeghem Dimitri M. L. , Malfliet Anneleen , Vervoort Tine 
Published: June 2021

AbstractBackgroundPain neuroscience education (PNE) has received increasing research attention demonstrating beneficial effects on pain‐related outcomes in adults. Conversely, studies on the effectiveness of PNE in children are scarce.MethodsThis study investigated the effect of a pain educational video intervention on child pain‐related outcomes (i.e. experienced pain intensity, pain‐related fear and catastrophic worry about pain, pain threshold and pain knowledge) in healthy children undergoing an experimental pain task. Furthermore, the moderating role of children's demographic (i.e. sex and age) and psychological (i.e. baseline pain knowledge and anticipated pain intensity, pain‐related fear and catastrophic worry) characteristics was examined. Participants were 89 children (Mage = 11.85, SD = 1.78), randomly assigned to either a condition whereby they were instructed to watch a brief pain educational video (i.e. experimental group) or to a control condition whereby they did not watch any video.ResultsStudy findings revealed that accurate pain knowledge and pain threshold were higher amongst children in the experimental group compared to the control group. In contrast with expectations, no main effects of the video intervention were observed for experienced pain intensity, pain‐related fear and catastrophic worry. Moderation analyses indicated that the video intervention contributed, in comparison with the control condition, to higher levels of pain knowledge amongst younger children only and to higher pain thresholds amongst boys only.ConclusionsFurther investigation is needed to optimize pain educational video interventions and to determine whether more beneficial outcomes can be found in clinical (i.e. non‐experimental) situations and in children with persistent or recurring pain problems.SignificanceExamining the impact of pain educational interventions within a non‐clinical setting is deemed particularly important given that adaptive pain coping strategies likely play an important role in preventing the development and maintenance of future maladaptive pain‐related behaviour. Further, study findings provide preliminary evidence of baseline and demographic (i.e. age and sex) characteristics explaining differences in the effect of a pain educational video intervention in pain knowledge and pain‐related experiences during experimental pain.
Online multidisciplinary interventions for paediatric chronic pain: A content analysis
Authors: Hurley‐Wallace Anna L. , Nowotny Ewa , Schoth Daniel E. , Liossi Christina 
Published: June 2021

AbstractBackgroundMany online interventions for paediatric chronic pain have been developed and evaluated. In accordance with the biopsychosocial model, the recommended treatment approach for chronic pain is multidisciplinary. Despite this, multidisciplinary components within existing online interventions have not been examined. The objective of the present review was to summarise and evaluate the content of existing online interventions for paediatric chronic pain by mapping intervention content to evidence‐based guidelines for chronic pain management.MethodsInterventions were identified using an updated systematic review. Nine chronic pain management strategies that reflect evidence‐based guidance for multidisciplinary chronic pain management were defined by the authors, examples of which include ‘pain education’, ‘activity pacing’ and ‘physiotherapy’. Identified interventions were then coded against the target strategies. These codes were compiled descriptively to provide an overview of how well each chronic pain management strategy was represented across the dataset, and which interventions represented the most strategies.ResultsThirty‐five articles, relating to 13 unique interventions for paediatric chronic pain management were identified; few encompassed a complete multidisciplinary approach. Many CBT‐based interventions included multidisciplinary elements. Across interventions, physiotherapy and non‐pharmacological physical therapies were the least represented chronic pain management strategies.ConclusionsThe content analysis revealed a lack of online interventions encompassing complete multidisciplinary pain management. It is important that new interventions for paediatric chronic pain management are evidence‐based and reflect current best practice guidelines. Established intervention development approaches should be utilised and include a process evaluation to help identify which intervention components are effective in which contexts.SignificanceThis content analysis of online interventions for paediatric chronic pain highlights the need for multidisciplinary practices in pain management to be translated into online interventions. Improving the availability of pain management resources is essential for many families who cannot attend specialist pain clinics, particularly in the context of the COVID‐19 pandemic. There is potential for new resources, as well as for established resources, to be further developed to deliver a broader range of pain management content.
Assessing methods for geometric distortion compensation in 7 T gradient echo functional MRI data
Authors: Schallmo Michael‐Paul , Weldon Kimberly B. , Burton Philip C. , Sponheim Scott R. , Olman Cheryl A. 
Published: June 2021

AbstractEcho planar imaging (EPI) is widely used in functional and diffusion‐weighted MRI, but suffers from significant geometric distortions in the phase encoding direction caused by inhomogeneities in the static magnetic field (B0). This is a particular challenge for EPI at very high field (≥7 T), as distortion increases with higher field strength. A number of techniques for distortion correction exist, including those based on B0 field mapping and acquiring EPI scans with opposite phase encoding directions. However, few quantitative comparisons of distortion compensation methods have been performed using human EPI data, especially at very high field. Here, we compared distortion compensation using B0 field maps and opposite phase encoding scans in two different software packages (FSL and AFNI) applied to 7 T gradient echo (GE) EPI data from 31 human participants. We assessed distortion compensation quality by quantifying alignment to anatomical reference scans using Dice coefficients and mutual information. Performance between FSL and AFNI was equivalent. In our whole‐brain analyses, we found superior distortion compensation using GE scans with opposite phase encoding directions, versus B0 field maps or spin echo (SE) opposite phase encoding scans. However, SE performed better when analyses were limited to ventromedial prefrontal cortex, a region with substantial dropout. Matching the type of opposite phase encoding scans to the EPI data being corrected (e.g., SE‐to‐SE) also yielded better distortion correction. While the ideal distortion compensation approach likely varies depending on methodological differences across experiments, this study provides a framework for quantitative comparison of different distortion compensation methods.
Training and development investment and financial performance: The bidirectional relationship and the moderating effect of financial slack
Authors: Yoo Sangok , Lee Suhyung , Kim Sehoon , Jang Soebin , Cho Daeyeon 
Published: June 2021

AbstractResearch has not yet clearly demonstrated the relationship between training and development (TD) investment and financial performance. This study examines the bidirectional, non‐linear, one‐year‐lagged relationship between TD investment and financial performance, and the moderating effect of financial slack on the relationship based on the resource‐based view and the theory of slack resources. We analyze financial data of 174 firms in South Korea over 10 years (2009–2018) using a lagged dependent variable model. Our results demonstrate that TD investment contributes to later financial performance, and financial performance contributes to later TD investment. We find an inverted U‐shaped relationship between TD investment and financial performance in both directions. Financial slack positively moderates the bidirectional relationship, such that the inverted U‐shaped effect of TD investment on financial performance is more pronounced among those with low financial slack. In the effect of financial performance on TD investment, firms with high financial slack show a U‐shaped curve, while firms with low financial slack show an inverted U‐shaped curve. This study provides valuable information for human resource development scholars and practitioners about the relationship between TD investment and financial performance.
Numerical investigation of the flow field and heat transfer characteristics for upstream continuous and truncated ribs
Authors: Xu Zhi‐peng , Zhu Hui‐ren , Ye Lin 
Published: June 2021

AbstractTo verify the applicability of upstream ribs in film cooling, the present numerical study examines heat transfer characteristics and flow field for ribs located upstream of the film hole. Five ribs including bilaterally truncated ribs, centrally truncated ribs, and continuous ribs are explored with the smooth case at two blowing ratios and fixed crossflow Reynolds number. The results show that the film cooling effectiveness of cases with ribs outperforms the case without rib at a low blowing ratio. Centrally truncated ribs and continuous ribs provide superior cooling effectiveness than bilaterally truncated ribs and smooth cases. The introduction of ribs makes the distribution of the heat transfer coefficient (HTC) uneven after the hole. Among these, centrally truncated ribs increased the HTC, while bilaterally truncated ribs reduce the HTC in the far hole area at a high blowing ratio. It is found that anti‐kidney‐shaped vortex pairs are generated between two adjacent jets for centrally truncated rib cases, while they are generated in front of the jets for bilaterally truncated rib cases. For continuous rib, the impingement of the mainstream gas on the jet leads to a reduction in strength of the kidney‐shaped vortex, which allows the coolant to form a better coverage.
Only the Co-Transcriptional Activity of β-Catenin Is Required for the Local Regulatory Effects in Hypertrophic Chondrocytes on Developmental Bone Modeling
Authors: Wolff Lena I , Houben Astrid , Fabritius Christine , Angus-Hill Melinda , Basler Konrad , Hartmann Christine 
Published: June 2021

ABSTRACTIn hypertrophic chondrocytes, β-catenin has two roles. First, it locally suppresses the differentiation of osteoclasts at the chondro-osseous junction by maintaining the pro-osteoclastic factor receptor activator of NF-κB ligand (RANKL) at low levels. Second, it promotes the differentiation of osteoblast-precursors from chondrocytes. Yet, β-catenin is a dual-function protein, which can either participate in cell–cell adherens junctions or serve as a transcriptional co-activator in canonical Wnt signaling interacting with T-cell factor/lymphoid enhancer-binding factor (TCF/LEF) transcription factors. Hence, whenever studying tissue-specific requirements of β-catenin using a conventional conditional knockout approach, the functional mechanisms underlying the defects in the conditional mutants remain ambiguous. To decipher mechanistically which of the two molecular functions of β-catenin is required in hypertrophic chondrocytes, we used different approaches. We analyzed the long bones of newborn mice carrying either the null-alleles of Lef1 or Tcf7, or mice in which Tcf7l2 was conditionally deleted in the hypertrophic chondrocytes, as well as double mutants for Lef1 and Tcf7l2, and Tcf7 and Tcf7l2. Furthermore, we analyzed Ctnnb1 mutant newborns expressing a signaling-defective allele that retains the cell adhesion function in hypertrophic chondrocytes. None of the analyzed Tcf/Lef single or double mutants recapitulated the previously published phenotype upon loss of β-catenin in hypertrophic chondrocytes. However, using this particular Ctnnb1 allele, maintaining cell adhesion function, we show that it is the co-transcriptional activity of β-catenin, which is required in hypertrophic chondrocytes to suppress osteoclastogenesis and to promote chondrocyte-derived osteoblast differentiation. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Rictor Is a Novel Regulator of TRAF6/TRAF3 in Osteoclasts
Authors: Xu Song , Li Shihai , Liu Xianming , Tan Kang , Zhang Jiahuan , Li Kai , Bai Xiaochun , Zhang Yue 
Published: June 2021

ABSTRACT
Tumor necrosis factor receptor-associated factors (TRAFs) are crucial for receptor activator of nuclear factor-κB (RANK) activation in osteoclasts. However, the upstream mechanisms of TRAF members in the osteoclastic lineage remain largely unknown. Here, we demonstrated that Rictor, a key component of mechanistic target of rapamycin complex 2 (mTORC2), was crucial for TRAF6/TRAF3 expression in osteoclasts. Our ex vivo and in vivo studies showed that Rictor ablation from the osteoclastic lineage reduced osteoclast numbers and increased bone mass in mice. Mechanistically, we found that Rictor ablation restricted osteoclast formation, which disrupted TRAF6 stability and caused autophagy block in a manner distinct from mTORC1, resulting in reduced TRAF3 degradation. Boosting TRAF6 expression or knockdown of TRAF3 levels in Rictor-deficient cells could both overcome the defect. Moreover, Rictor could interact with TRAF6 upon RANK ligand (RANKL) stimulation and loss of Rictor impaired TRAF6 stability and promoted its ubiquitinated degradation. These findings established an innovative link between Rictor, TRAF protein levels, and autophagic block. More importantly, mTOR complexes in the osteoclastic lineage are likely switches for coordinating TRAF6 and TRAF3 protein levels, and Rictor may function as an essential upstream regulator of TRAF6/TRAF3 that is partially independent of mTORC1 activity. Inhibitors targeting Rictor may therefore be valuable for preventing or treating osteoclast-related diseases. © 2021 American Society for Bone and Mineral Research (ASBMR).