bluuebunny/crossref_metadata_2025 huggingface dataset:
The influence of climate on water chemistry states and dynamics in rivers across Australia
Authors: Lintern Anna , Liu Shuci , Minaudo Camille , Dupas Rémi , Guo Danlu , Zhang Kefeng , Bende‐Michl Ulrike , Duvert Clément
Published: October 2021

For effective water quality management and policy development, spatial variability in the mean concentrations and dynamics of riverine water quality needs to be understood. Using water chemistry (calcium, electrical conductivity, nitrate‐nitrite, soluble reactive phosphorus, total nitrogen, total phosphorus and total suspended solids) data for up to 578 locations across the Australian continent, we assessed the impact of climate zones (arid, Mediterranean, temperate, subtropical, tropical) on (i) inter‐annual mean concentration and (ii) water chemistry dynamics as represented by constituent export regimes (ratio of the coefficients of variation of concentration and discharge) and export patterns (slope of the concentration‐discharge relationship). We found that inter‐annual mean concentrations vary significantly by climate zones and that spatial variability in water chemistry generally exceeds temporal variability. However, export regimes and patterns are generally consistent across climate zones. This suggests that intrinsic properties of individual constituents rather than catchment properties determine export regimes and patterns. The spatially consistent water chemistry dynamics highlights the potential to predict riverine water quality across the Australian continent, which can support national riverine water quality management and policy development.
Proteomic analysis of zearalenone toxicity on mouse thymic epithelial cells
Authors: Geng Hongrui , Tan Xiaotong , Zhao Miao , Ma Yongjiang , Li Yugu
Published: October 2021

Zearalenone (ZEA) is one of the most major food contaminants in cereal crops worldwide, risking health of both livestock and humans. This study aimed to assess the cytotoxicity and the underlying mechanism of ZEA on thymic epithelial cells. By using proteomics analysis, we identified 596 differentially expressed proteins in MTEC1 cells upon zearalenone exposure, of which 245 were upregulated and 351 were downregulated. Gene ontology (GO) analysis suggested that differentially expressed proteins were participated in protein synthesis, oxidative phosphorylation, and ATP binding. KEGG pathway enrichment analysis showed that differentially expressed proteins were mainly related to mitochndrial metabolism, such as citrate cycle (TCA cycle) and oxidative phosphorylation. We demonstrated that ZEA treatment was able to increase the intracellular reactive oxygen species (ROS) level, to decrease ΔΨm, ATP level, and the copy number of mtDNA, leading to necrotic cell death. Moreover, we showed that ZEA treatment inhibited cell proliferation and induced G2/M phase arrest by downregulation of proliferation‐associated proteins ERK, p‐ERK, CDK1, and p‐CHK1. Taken together, we found that the toxicity of ZEA on thymic epithelial cells is mainly caused by the inhibition of mitochondrial dysfunction and cell proliferation. Our study might open new avenues for treatment strategies.
Multi‐ion‐doped nano‐hydroxyapatite‐coated titanium intramedullary pins for long bone fracture repair in dogs—Clinical evaluation
Authors: Gaddam Vani , Podarala Veena , Rayaduram Venkata Suresh Kumar , Mukku Santhi Lakshmi , Devalam Raniprameela , Kundu Biswanath
Published: October 2021

Plasma spray nano‐hydroxyapatite‐coated titanium intramedullary implants doped either with 5% zinc, 2.5% strontium, and 2.5% fluorine ions or with 5% zinc, 5% strontium, and 2.5% silver ions were evaluated compared with plasma spray nano‐hydroxyapatite‐coated titanium intramedullary implant and uncoated titanium intramedullary implants for open reduction and internal immobilization in 24 clinical cases of long bone fracture repair in dogs. Fracture‐healing limb outcome was evaluated clinically, that is, radiographically. Biochemical estimation of serum calcium, serum phosphorus, alkaline phosphatase (ALP), and bone markers (bone ALP [BALP] and C‐telopeptide of type 1 collagen [CTX]) was carried out on 0th day, 3rd week, 6th, and 9th week postoperatively. Multi‐ion‐doped plasma spray nano‐hydroxyapatite‐coated titanium intramedullary implants were found to be superior to plasma spray nano‐hydroxyapatite‐coated titanium intramedullary implants and uncoated titanium intramedullary implants in terms of all the parameters studied. Using plasma spray nano‐hydroxyapatite‐coated titanium implants doped with multi ions, that is, 5% zinc, 5% strontium, and 2.5% silver gave the best results in fracture repair followed by the implants doped with 5% zinc, 2.5% strontium, and 2.5% fluorine ions. Earliest and excellent limb usage with no postoperative complications was the hallmark of the use of these multi‐ion‐doped implants with higher serum calcium, serum phosphorus, ALP, BALP, and CTX values up to 3rd postoperative week and no lameness on the 21st day.
Eriocitrin, a dietary flavonoid suppressed cell proliferation, induced apoptosis through modulation of JAK2/STAT3 and JNK/p38 MAPKs signaling pathway in MCF‐7 cells
Authors: Yuan Chengliang , Chen Guoping , Jing Chengbao , Liu Mengxue , Liang Bo , Gong Guojin , Yu Mei
Published: November 2021

Eriocitrin, a lemons flavanone, exhibits several biological properties, antiproliferative, and proapoptotic effects. However, its molecular mechanical action is not entirely clarified. Oxidative stress causes abnormal stimulation of signal transducer and activator of transcription 3 (STAT3) and c‐Jun NH2‐terminal kinase (JNK), p38 mitogen‐activated protein kinases (MAPKs) signaling has been strongly connected with the ruling of cell survival and apoptosis of cancer cells. Herein, we investigated an antiproliferative and proapoptotic effect that Eriocitrin modulates STAT3/MAPKs signaling activation in MCF‐7 cells. We noticed that Eriocitrin strongly enhances reactive oxygen species (ROS) generation, alteration of mitochondrial outer membrane potential, and enhances apoptotic morphological changes. Furthermore, Eriocitrin suppressed STAT3 phosphorylation via inhibiting an upstream molecule of JAK2 and Src kinase activation, thereby blocking STAT3 nuclear translocation. Similarly, Eriocitrin causes oxidative stress‐mediated JNK/p38 MAPK signaling activation. We confirmed that Eriocitrin induced ROS‐mediated apoptosis inhibited by the antioxidant substance of N‐acetylcysteine. Eriocitrin induced apoptosis via suppression of STAT3 signaling regulated proteins, activating proapoptotic factors Bax, caspase 7, 8, 9 and suppressing Bcl‐2, Bcl‐x expression in MCF‐7 cells. Overall, these results evidenced that Eriocitrin can affect multiple signaling events associated with tumorigenesis. From this evidence, Eriocitrin, a novel chemotherapeutic agent, can be used to treat breast cancer.
A five‐gene methylation signature predicts overall survival of patients with clear cell renal cell carcinoma
Authors: Jing Xiao , Xu Gang , Gong Yu , Li Junlong , LingfengWu  , Zhu Wei , He Yi , Li Zhongyi , Pan Shouhua
Published: October 2021

Background

In this study, we aimed to screen methylation signatures associated with the prognosis of patients with clear cell renal cell carcinoma (ccRCC).

Methods

Gene expression and methylation profiles of ccRCC patients were downloaded from publicly available databases, and differentially expressed genes (DEGs)‐differentially methylated genes (DMGs) were obtained. Subsequently, gene set enrichment and transcription factor (TF) regulatory network analyses were performed. In addition, a prognostic model was constructed and the relationship between disease progression and immunity was analyzed.

Results

A total of 23 common DEGs‐DMGs were analyzed, among which 14 DEGs‐DMGs were obtained with a cutoff value of PCC < 0 and p < 0.05. The enrichment analysis showed that the 14 DEGs‐DMGs were enriched in three GO terms and three KEGG pathways. In addition, a total of six TFs were shown to be associated with the 14 DEGs‐DMGs, including RP58, SOX9, NF‐κB65, ATF6, OCT, and IK2. A prognostic model using five optimized DEGs‐DMGs which efficiently predicted survival was constructed and validated using the GSE105288 dataset. Additionally, four types of immune cells (NK cells, macrophages, neutrophils, and cancer‐associated fibroblasts), as well as ESTIMATE, immune, and stromal scores were found to be significantly correlated with ccRCC progression (normal, primary, and metastasis) in addition to the five optimized DEGs‐DMGs.

Conclusion

A five‐gene methylation signature with the predictive ability for ccRCC prognosis was investigated in this study, consisting of CCNB2, CDKN1C, CTSH, E2F2, and ERMP1. In addition, potential targets for methylation‐mediated immunotherapy were highlighted.
Psychometric evaluation of the Norwegian Toronto Alexithymia Scale (TAS‐20) in a multisite clinical sample of patients with personality disorders and personality problems
Authors: Pedersen Geir , Normann‐Eide Eivind , Eikenæs Ingeborg Ulltveit‐Moe , Kvarstein Elfrida Hartveit , Wilberg Theresa
Published: October 2021

Objective

Psychometric properties of 20‐item Toronto Alexithymia Scale (TAS‐20) have been widely analyzed, but the validity and psychometric qualities of the TAS‐20 in populations with personality disorders are still poorly understood. The aim of the current study was to analyze the factor structure and validity of TAS‐20.

Method

Data were extracted from a multisite clinical sample of patients with personality disorders or personality‐related problems referred to specialist mental health services in Norway.

Results

With one exception, TAS‐20 revealed acceptable psychometric properties. Variations of TAS‐20 are associated with other clinical measures of distress and severity. Anxiety disorders, borderline, and avoidant personality disorders were all highly related to levels of TAS‐20. The TAS‐20 also revealed unique variance not accounted for by subjective distress, symptom disorders, or dysfunctional personality traits.

Conclusion

The TAS‐20 is a relevant instrument for use in assessment of personality disorders, but one subscale should be improved.
Comparison among various configurations of hybrid distillation–membrane setups for the energy efficiency improvement of bioethanol distillery: a simulation study
Authors: Iftikhar Sherafghan , Aslam Zaheer , Ali Usman , Akhtar Adnan
Published: October 2021

BACKGROUND

Hybrid distillation–membrane setups have attracted attention in recent years due to their lower energy usage for ethanol purification. Membrane separation processes operate without heating that reduces energy demand. However, it is somewhat challenging to select the optimal material and process for a membrane purifying ethanol, especially to get an ethanol purity of 99.99% with maximum recovery.

RESULTS

In this study, three different configurations of hybrid distillation–membrane setups are proposed consisting of distillation–pervaporation/vapor permeation processes by considering ceramic, polymeric and composite membranes. The design of hybrid processes is performed by coupling the membrane model built in Aspen Custom Modeler with a simulator of a distillation column. It was observed that distillation–membrane setups exhibited relatively lower operating energy requirement compared to state‐of‐the‐art distillation with near 70% energy savings for the case of distillation–vapor permeation. In terms of the process, we found that vapor permeation is more feasible than pervaporation due to its lower operating cost. Furthermore, it was determined that ceramic membranes exhibit low areas (about 1.64 to 2.62 m2) for ethanol purification compared to polymeric membranes (about 162.94 to 278.47 m2). It is concluded that hybrid processes are less energy intensive compared to the conventional process for ethanol purification.

CONCLUSIONS

The results of the sensitivity analysis revealed that the best configuration to get 99.99% pure ethanol with maximum recovery and least operational cost and capital investment would be distillation and vapor permeation configured with NaA zeolite. These findings would be a useful contribution to process intensification concerning ethanol purification plants. © 2021 Society of Chemical Industry (SCI).
Development and validation of a clinical prediction model to estimate the risk of critical patients with COVID‐19
Authors: Chen Wenyu , Yao Ming , Hu Lin , Zhang Ye , Zhou Qinghe , Ren Hongwei , Sun Yanbao , Zhang Ming , Xu Yufen
Published: October 2021

The outbreak of coronavirus disease 2019 (COVID‐19) has globally strained medical resources and caused significant mortality. This study was aimed to develop and validate a prediction model based on clinical features to estimate the risk of patients with COVID‐19 at admission progressing to critical patients. Patients admitted to the hospital between January 16, 2020, and March 10, 2020, were retrospectively enrolled, and they were observed for at least 14 days after admission to determine whether they developed into severe pneumonia. According to the clinical symptoms, all patients were divided into four groups: mild, normal, severe, and critical. A total of 390 patients with COVID‐19 pneumonia were identified, including 212 severe patients and 178 nonsevere patients. The least absolute shrinkage and selection operator (LASSO) regression reduced the variables in the model to 6, which are age, number of comorbidities, computed tomography severity score, lymphocyte count, aspartate aminotransferase, and albumin. The area under curve of the model in the training set is 0.898, and the specificity and sensitivity were 89.7% and 75.5%. The prediction model, nomogram might be useful to access the onset of severe and critical illness among COVID‐19 patients at admission, which is instructive for clinical diagnosis.
The neuroprotective effect and possible therapeutic application of xenon in neurological diseases
Authors: Zhang Mengdi , Cui Yaru , Cheng Yao , Wang Qiaoyun , Sun Hongliu
Published: October 2021

Xenon is an inert gas with stable chemical properties which is used as an anesthetic. Recentin vitroandin vivofindings indicate that xenon also elicits an excellent neuroprotective effect in subanesthetic concentrations. The mechanisms underlying this primarily involve the attenuation of excitotoxicity and the inhibition of N‐methyl‐d‐aspartic acid (NMDA) receptors and NMDA receptor‐related effects, such as antioxidative effects, reduced activation of microglia, and Ca2+‐dependent mechanisms, as well as the interaction with certain ion channels and glial cells. Based on this strong neuroprotective role, a large number of experimental and clinical studies have confirmed the significant therapeutic effect of xenon in the treatment of neurological diseases. This review summarizes the reported neuroprotective mechanisms of xenon and discusses its possible therapeutic application in the treatment of various neurological diseases.
Climate change impact on sea surface winds in Southeast Asia
Authors: Herrmann Marine , Nguyen‐Duy Tung , Ngo‐Duc Thanh , Tangang Fredolin
Published: October 2021

Numerical representation and climate projections of sea surface winds over Southeast Asia (SEA) are assessed here using an ensemble of the Coupled Model Intercomparison Project Phase 5 (CMIP5) downscaled simulations performed over the 20th and 21st centuries under Representative Concentration Pathways (RCPs) 4.5 and 8.5 scenarios within the Coordinated Regional Climate Downscaling EXperiment (CORDEX)‐SEA project. The ensemble is based on two regional climate models (RCMs: RegCM4 and RCA4), and CMIP5 simulations are performed with five global climate models (GCMs: CNRM_CM5, HadGEM2, GFDL, MPI‐ESM‐MR, EC‐Earth). Comparison with QuikSCAT satellite data shows that dynamical downscaling improves sea surface wind speed representation, mainly by reducing its underestimation. The level of improvement depends on the RCM choice, GCM performance, and wind strength. Our results reveal significant differences in modelled projections of sea surface wind, depending on the model, RCP, region, and season. GCMs simulate weak and contrasted changes, stronger for RCP8.5, with no clear common trend. RCA4 simulates weak changes, with high similarities between pairs, but contrasted results between RCPs. RegCM4 simulate stronger changes, with a weakening of average and intense winds for all seasons, stronger in June–August, and in RCP8.5 than in RCP4.5. RCA4 and RegCM4 simulate different changes, with no clear common trend except a weakening of seasonal and intense winds and an increase of seasonal wind interannual variability for June–August in RCP4.5, stronger for RegCM4. This corresponds to a weakening of the boreal summer monsoon and a slight increase of its interannual variability and presumably to a decrease of the tropical cyclone frequency. Differences in seasonal sea surface wind changes between models are related to differences in sea level pressure gradient changes. For a given RCM, those differences are partly related to the differences between parent GCMs. Finally, results suggest that uncertainties related to the RCM choice are larger than those related to the GCM choice.
Reliability of the posterior condylar offset
Authors: León‐Muñoz Vicente J. , Parrinello Andrea , Galloni Gianluca , Lisón‐Almagro Alonso J. , López‐López Mirian , Martínez‐Martínez Francisco , Santonja‐Medina Fernando
Published: October 2021

The posterior condylar offset (PCO) has been proposed as a determinant of a postoperative range of motion after total knee arthroplasty, although there is no consensus. This study aimed to demonstrate the error introduced by forcing the femoral rotation to overlap both condyles for the “true” lateral X‐ray projection for the PCO measurement. We hypothesize that the angular discrepancy between the posterior femoral cortical reference plane and the posterior condylar axis plane due to rotation invalidates the acquisition of reliable measurements on X‐rays. We have measured the PCO in 50 “true” lateral X‐rays and compared it with the medial and lateral condyles PCO's assessed on a computed tomography‐scan‐based three‐dimensional (3D) model of each knee. PCO based on the 3D imaging differed significantly between the medial (25.8 ± 3.67 mm) and lateral (16.59 ± 2.92 mm) condyle. Three‐dimensional PCO values differ significantly from those determined in the radiographic studies. Also, the mean values of the medial and lateral condyle PCO measurements differed significantly (p < 0.001) with all PCO measurements on radiographs. We have identified a difference between the posterior cortical plane and the posterior condylar axis projections, both on the axial plane with a mean value of 11.23° ± 3.64°. Our data show an interplane discrepancy angle between the posterior femoral diaphyseal cortical and the posterior condylar axis plane (due to the femur's necessary rotation to overlap both condyles) may invalidate the 2D X‐ray PCO assessment as a reliable measurement.
Establishing a new body mass index cutoff value for malnutrition diagnosis using the Global Leadership Initiative on Malnutrition (GLIM) tool in Chinese older adults
Authors: Wang Yu , Jiang Hua , Zhu Ming‐Wei , Deng Hong‐Fei , Wang Lu , Wang Xue , Yang Guang‐Yu , Wei Jun‐Min , Chen Wei
Published: October 2021

Background

The body weight of the Chinese population rose rapidly over the past two decades. The old 2001 body mass index (BMI) cutoff value for malnutrition may underestimate malnutrition diagnosis. We explored the BMI cutoff value for malnutrition diagnosis based on national BMI data from the past 30 years and applied it to the Global Leadership Initiative on Malnutrition (GLIM) criteria when investigating malnutrition in hospitalized older patients.

Methods

To explore the BMI cutoff value for malnutrition, we established a linear stepwise model to predict the annual increasing BMI trend based on data from the national BMI data set. The new cutoff value was applied to a large‐scale data set from a cross‐sectional study pertaining to older hospitalized patients recruited from 30 large hospitals in China.

Results

The BMI increased from 21.8 to 23 kg/m2 in two decades. We calculated that the net BMI increase will be 1.49 kg/m2 from 1999 to 2019. We subsequently proposed that the BMI cutoff value for malnutrition should rise to 20 kg/m2. This cutoff value was applied to the validation data set, containing 8725 patients, and the GLIM‐determined malnutrition rate was 24.58% (using the Nutrition Risk Screening 2002 [NRS‐2002]) and 23.32% (using the Mini Nutritional Assessment–Short Form [MNA‐SF]). The results significantly differed from those obtained using the 2001 Chinese BMI criteria.

Conclusion

The GLIM tool has good applicability in Asian populations, especially in Chinese older patients. The BMI cutoff value for malnutrition should be adjusted to 20 kg/m2 for Chinese adults.
Octanoic acid–rich enteral nutrition prevented lipopolysaccharide‐induced acute liver injury through c‐Jun N‐terminal kinase–dependent autophagy
Authors: He Kaiming , Cao Chun , Xu Xiangrong , Ye Zhenyu , Ma Xiaoming , Chen Wei , Du Peng
Published: November 2021

Background

Acute liver injury (ALI) is an essential component of sepsis associated with poor outcomes. Octanoic acid (OA), a medium‐chain fatty acid, has a protective effect on sepsis‐induced organ damage, and autophagy is an adaptive response to sepsis. However, the underlying mechanism by which OA prevents ALI remains unknown. Therefore, we investigated whether OA‐rich enteral nutrition (EN) prevented lipopolysaccharide (LPS)‐induced ALI through the c‐Jun N‐terminal kinase (JNK)‐dependent autophagy.

Methods

Firstly, Sprague Dawley rats were randomly divided into four groups (sham, LPS, LPS + EN, and LPS + EN + OA) to detect the effect of OA‐rich EN on LPS‐induced ALI. Then, rats were randomly divided into five groups (sham, LPS, LPS + EN + OA, LPS + EN + OA + anisomycin (AN), and LPS + SP600125) to explore the mechanism by which OA‐rich EN prevented ALI. EN and OA‐rich EN were conducted through gastric tubes for 3 days. The liver protective effects were measured by liver histopathological changes, enzymes, inflammatory cytokines of serum and liver, the levels of autophagy, and JNK activity.

Results

OA‐rich EN inhibited JNK activity, up‐regulated autophagy and prevented LPS‐induced ALI. Inhibition of JNK activity conferred by SP promoted autophagy and prevented LPS‐induced ALI. Moreover, the protective effect of autophagy and inhibition of JNK activity conferred by OA‐rich EN on ALI was counteracted by AN.

Conclusion

OA‐rich EN prevented LPS‐induced ALI through JNK‐dependent autophagy. This result suggested that OA‐rich EN may be a therapeutic potential for ALI in patients with sepsis.
Comparative analysis of aroma compounds in French fries and palm oil at three crucial stages by GC/MS‐olfactometry, odor activity values, and aroma recombination
Authors: Xu Lirong , Chang Jiarui , Mei Xue , Zhang Youfeng , Wu Gangcheng , Jin Qingzhe , Wang Xingguo
Published: October 2021

BACKGROUND

Flavor is a key element affecting the popularity of French fries (FFs). When oil is heated, the changes in oil quality can affect the flavor of the food directly.

RESULTS

The flavor of FFs showed three crucial stages: the break‐in (3.0% to 6.8% of total polar compounds (TPC)), optimum (7.0% to 19% of TPC), and degrading (above 19.5% of TPC) stages. To distinguish the key aroma compounds in the three stages, the FFs, prepared in palm oil (PO) at TPC of 3.0% (FF3), 7.5% (FF8), 19.5% (FF20), and their relevant oils (PO3, PO8, PO20), were selected for molecular sensory science analysis. The results indicated that the concentration of (E, E)‐2,4‐decadienal linked with the deep‐fried odor was low in FF3, which led to a lower sensory score in the FF3 sample. The FF8 sample had a high (E, E)‐2,4‐decadienal content and received a high sensory score. The FF20 sample possessed high hexanoic acid, heptanoic acid (sweaty odor), benzaldehyde (stale odor), octanoic acid (sweaty odor), (E)‐2‐undecenal (fatty odor), and trans‐4,5‐epoxy‐(E)‐2‐decenal (metallic odor) content, thus leading to FFs having an undesirable flavor and PO20 showed high hexanoic acid and heptanoic acid content, contributing to a lower sensory score in PO20.

CONCLUSION

The FFs’ flavor became undesirable when TPC was above 19.5% due to significant influences of some off‐flavor compounds. It is therefore essential to prevent the generation of rancid substances to prolong the optimum stage during frying. © 2021 Society of Chemical Industry.
Bacterial communities in cascade reservoirs along a large river
Authors: Chen Qiuwen , Chen Yuchen , Yang Jun , Maberly Stephen C. , Zhang Jianyun , Ni Jinren , Wang Gangsheng , Tonina Daniele , Xiao Lin , Ma Honghai
Published: October 2021

Dam construction is widespread, changing the hydrological and biogeochemical conditions and thereby the bacterial communities in the rivers of the earth. To date, knowledge is lacking about bacterial communities in cascade reservoirs. Here, we investigated the bacterial communities and potential functions of nine cascade hydropower reservoirs in 1290 km of the upper Mekong River (Lancang River in China). Along the reservoir cascade, the water temperature, rather than the presence of dams, was the main cause for the geographical patterns of bacterial community composition. Within a reservoir, significant spatial differences in sediment bacterial communities were observed between the tail, middle, and head of a reservoir. The differences in sediment properties resulted by flow velocity‐sieved sedimentation from the tail to head of a reservoir caused the spatial variation in sediment bacteria communities, forming potential hotspots for biogeochemical cycling in the middle of the reservoir. In contrast, unlike in deep lakes and deep single reservoirs, the bacterioplankton community composition had no distinctly layered features in the deep cascade reservoirs, because density‐induced underwater currents and convection resulting from hydropower production reduced the vertical hydro‐environmental gradients. This study provides a novel perspective on the processes affecting the distribution and function of bacterial communities in river‐reservoir cascades, and is a first step toward forecasting the consequences of microbially mediated biogeochemical cycling in existing and future reservoirs worldwide.
Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
Authors: Tran Mau‐Them Frederic , Duffourd Yannis , Vitobello Antonio , Bruel Ange‐Line , Denommé‐Pichon Anne‐Sophie , Nambot Sophie , Delanne Julian , Moutton Sebastien , Sorlin Arthur ,   Orphanomix Physician’s Group, Couturier Victor , Bourgeois Valentin , Chevarin Martin , Poe Charlotte , Mosca‐Boidron Anne‐Laure , Callier Patrick , Safraou Hana , Faivre Laurence , Philippe Christophe , Thauvin‐Robinet Christel
Published: October 2021

Background

Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parental DNA pooling method to reduce the parental sequencing cost while maintaining the diagnostic yield of trio‐ES.

Methods

We pooled six (Agilent‐CRE‐v2–100X) or five parental DNA (TWIST‐HCE–70X) aiming to detect allelic balance around 8–10% for heterozygous status. The strategies were applied as second‐tier (74 individuals after negative solo‐ES) and first‐tier approaches (324 individuals without previous ES).

Results

The allelic balance of parental‐pool variants was around 8.97%. Sanger sequencing uncovered false positives in 1.5% of sporadic variants. In the second‐tier approach, we evaluated than two thirds of the Sanger validations performed after solo‐ES (41/59–69%) would have been saved if the parental‐pool segregations had been available from the start. The parental‐pool strategy identified a causative diagnosis in 18/74 individuals (24%) in the second‐tier and in 116/324 individuals (36%) in the first‐tier approaches, including 19 genes newly associated with human disorders.

Conclusions

Parental‐pooling is an efficient alternative to trio‐ES. It provides rapid segregation and extension to translational research while reducing the cost of parental and Sanger sequencing.
De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH)
Authors: Gorenjak Mario , Fijačko Nino , Bogomir Marko Pij , Živanović Milanka , Potočnik Uroš
Published: October 2021

Familial Progressive Hyper‐ and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo‐ and hyperpigmented lesions, café‐au‐lait spots and hypopigmented ash‐leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families. Furthermore, association between KITLG mutations and malignancies was also suggested. Exome and SANGER sequencing were performed for identification of KITLG mutations. Functional in silico analyses were additionally performed to assess the findings. We identified a de novo mutation in exon 4 of KITLG gene causing NM_000899.4:c.[329A>T] (chr12:88912508A>T) leading to NP_000890.1:p.(Asp110Val) substitution in the 3rd alpha helix. It was predicted as pathogenic, located in a conserved region and causing an increase in hydrophobicity in the KITLG protein. Our findings clearly confirm an additional hot spot of KITLG mutations in the 3rd alpha helix, which very likely increases the risk of malignancies. To our knowledge the present study provides the strongest evidence of association of the KITLG mutation with both Familial Progressive Hyper‐ and Hypopigmentation and malignancy due to its’ location on somatic cancer mutation locus. Additionally we also address difficulties with classification of the unique phenotype and propose a subtype within broader diagnosis.
Impact of strong determination and awareness on substance addictions: A mathematical modeling approach
Authors: Jose Sayooj Aby , Raja Ramachandran , Zhu Quanxin , Alzabut Jehad , Niezabitowski Michal , Balas Valentina E.
Published: October 2021

Substance addiction such as tobacco, alcohol, opioids, drug addiction and so on are increasing day by day. Awareness about the harmful effects of substance addiction on health and strong will power of people to get rid of the addiction have positive impact on controlling substance addiction. The aim of this research is to examine the impact of awareness and strong determination, the two cognitive factors that have greater impact in preventing substance addiction. Addiction adversely affects self‐efficacy of younger generation, thought processing, metabolisms in human body, psychosocial effects and cardiovascular diseases. In this paper, we have developed a mathematical model regarding substance addiction. It consist of six compartments namely, susceptible class, light substance addict class, risk substance addict class, potential substance addict class, rehabilitation class and quitter class. The substance addiction generation number
has been determined, and the model is locally asymptotically stable at substance addictions free equilibrium point (SAFEP)
when
. It is found that, when
, a backward bifurcation can occur and when
, the substance addictions persistent equilibrium point (SAPEP)
becomes stable. Further analysis gives the global asymptotic stability of SAFEP. An application of this model, smoking model, is explored. Smoking model gives a different comparative study which proves the relevance and the importance of our model. We get a clear idea about smokers' behaviour at different stages of high determination and knowledge and also establish the relationship between
and these parameters. Finally, we give some recommendations for preventing addiction which can be implemented in society.
Using kinetic Monte Carlo simulations to design efficient magnetic nanoparticles for clinical hyperthermia
Authors: Papadopoulos Costas , Kolokithas‐Ntoukas Argiris , Moreno Roberto , Fuentes David , Loudos George , Loukopoulos Vassilios C. , Kagadis George C.
Published: November 2021

Purpose

The purpose of this study was to identify the properties of magnetite nanoparticles that deliver optimal heating efficiency, predict the geometrical characteristics to get these target properties, and determine the concentrations of nanoparticles required to optimize thermotherapy.

Methods

Kinetic Monte Carlo simulations were employed to identify the properties of magnetic nanoparticles that deliver high Specific Absorption Rate (SAR) values. Optimal volumes were determined for anisotropies ranging between 11 and 40 kJ/m3 under clinically relevant magnetic field conditions. Atomistic spin simulations were employed to determine the aspect ratios of ellipsoidal magnetite nanoparticles that deliver the target properties. A numerical model was developed using the extended cardiac‐torso (XCAT) phantom to simulate low‐field (4 kA/m) and high‐field (18 kA/m) prostate cancer thermotherapy. A stationary optimization study exploiting the Method of Moving Asymptotes (MMA) was carried out to calculate the concentration fields that deliver homogenous temperature distributions within target thermotherapy range constrained by the optimization objective function. A time‐dependent study was used to compute the thermal dose of a 30‐min session.

Results

Prolate ellipsoidal magnetite nanoparticles with a volume of 3922 ± 35 nm3 and aspect ratio of 1.56, which yields an effective anisotropy of 20 kJ/m3, constituted the optimal design at current maximum clinical field properties (H0 = 18 kA/m, f = 100 kHz), with SAR = 342.0 ± 2.7 W/g, while nanoparticles with a volume of 4147 ± 36 nm3, aspect ratio of 1.29, and effective anisotropy 11 kJ/m3 were optimal for low‐field applications (H0 = 4 kA/m, f = 100 kHz), with SAR = 50.2 ± 0.5 W/g. The average concentration of 3.86 ± 0.10 and 0.57 ± 0.01 mg/cm3 at 4 and 18 kA/m, respectively, were sufficient to reach therapeutic temperatures of 42–44°C throughout the prostate volume. The thermal dose delivered during a 30‐min session exceeded 5.8 Cumulative Equivalent Minutes at 43°C within 90% of the prostate volume (CEM43T90).

Conclusion

The optimal properties and design specifications of magnetite nanoparticles vary with magnetic field properties. Application‐specific magnetic nanoparticles or nanoparticles that are optimized at low fields are indicated for optimal thermal dose delivery at low concentrations.
Insertable inductively coupled volumetric coils for MR microscopy in a human 7T MR system
Authors: Okada Tomohisa , Handa Shinya , Ding Bill , Urayama Shin‐ichi , Fujimoto Koji , Shima Atsushi , Yoshii Daisuke , Ayaki Takashi , Sawamoto Nobukatsu , Takahashi Ryosuke , Onoe Hirotaka , Isa Tadashi , Petropoulos Labros
Published: November 2021

Purpose

To demonstrate the capability of insertable inductively coupled volumetric coils for MR microscopy in a human 7T MR system.

Methods

Insertable inductively coupled volume coils with diameters of 26 and 64 mm (D26 and D64 coils) targeted for monkey and mouse brain specimen sizes were designed and fabricated. These coils were placed inside the imaging volume of a transmit/receive knee coil without wired connections to the main system. Signal‐to‐noise ratio (SNR) evaluations were conducted with and without the insertable coils, and the g‐factor maps of parallel imaging (PI) were also calculated for the D64 coil. Brain specimens were imaged using 3D ‐weighted images with spatial resolution of isotropic 50 and 160 μm using D26 and D64 coils, respectively.

Results

Relative average (SD) SNRs compared with knee coil alone were 12.54 (0.30) and 2.37 (0.05) at the center for the D26 and D64 coils, respectively. The mean g‐factors of PI with the D64 coil for the factor of 2 were less than 1.1 in the left‐right and anterior‐posterior directions, and around 1.5 in the superior‐inferior direction or when the PI factor of 3 was used. Acceleration in two directions showed lower g‐factors but suffered from intrinsic low SNR. Representative ‐weighted images of the specimen showed structural details.

Conclusion

Inductively coupled small diameter coils insertable to the knee coil demonstrated high SNR and modest PI capability. The concept was successfully used to visualize fine structures of the brain specimen. The insertable coils are easy to handle and enable MR microscopy in a human whole‐body 7T MRI system.
An Assessment of Nighttime Electrofishing in the Lower Wabash River
Authors: Hine Eric C. , Colombo Robert E. , Meiners Scott J. , Moody-Carpenter Cassi J. , Maia Anabela
Published: October 2021

Large rivers are highly important systems that require close monitoring of the ecological consequences of factors like commercial and recreational exploitation, channel alterations, and climate change. The Long-Term Survey and Assessment of Large River Fishes in Illinois (LTEF) monitors the fish communities of the Illinois, Mississippi, Wabash, and Ohio rivers using daytime, pulsed-DC electrofishing between June and October each year. Previous research has documented diel differences in the catch and composition of fish communities. Therefore, the addition of nighttime electrofishing may be beneficial to the overarching goals of long-term monitoring. This study sought to determine whether there are significant diel differences in fish catch and composition in the Wabash River and whether these potential differences warrant the addition of nighttime sampling to the current protocol. We used nighttime, pulsed-DC electrofishing at fixed sites corresponding to LTEF sites in the lower Wabash River from June 7 to November 7, 2017. We compared catch per unit effort (CPUE), length distributions, family, and species composition between our nighttime electrofishing data and LTEF daytime electrofishing data. Nonmetric multidimensional scaling showed that the differences between nighttime and daytime electrofishing samples were driven by higher catches of catostomids, centrarchids, and lepisosteids. Nighttime electrofishing had significantly higher mean CPUE than daytime electrofishing, and the four families with significant differences were Catostomidae, Cyprinidae, Lepisosteidae, and Sciaenidae. Of the families for which we compared length data, only Sciaenidae had a significantly different length distribution, with a higher proportional catch of smaller individuals (<100 mm) at night. Despite these differences, compositional shifts were minor, with overlap between daytime and nighttime sampling. Due to the compositional similarities between night and day, the costs of adding nighttime electrofishing to long-term monitoring would not be necessary. We would recommend nighttime electrofishing for targeting specific taxa and age-classes that are underrepresented in daytime samples.
Methods for Estimating Abundance and Associated Uncertainty from Passive Count Technologies
Authors: Putt Annika E. , Ramos-Espinoza Daniel , Braun Douglas C. , Korman Josh
Published: October 2021

Passive count technologies (e.g., resistivity counters, infrared cameras, and sonar/hydroacoustic cameras) are increasingly being used to enumerate migratory fish populations, but methodologies for converting counts into abundance estimates with uncertainty are not available. Passive counters are typically paired with a secondary data collection method, such as video, images, or direct observation, to validate or correct the count data for false positives and false negatives. We developed a framework that incorporates measurement error into passive counter estimates based on a statistical comparison with validation data. We demonstrate this framework using resistivity counter and video validation data collected for Gates Creek Sockeye Salmon Oncorhynchus nerka as they migrated through a fish passage facility at the Seton Dam in British Columbia, Canada. We also conducted simulations to evaluate the trade-offs between validation effort and accuracy and precision of abundance estimates, which can be used to plan passive counter postprocessing and validation. We found our method to be accurate and precise when abundance was high (i.e., >1,000), even when validation effort was low (i.e., 5% validation). There was a positive estimation bias when abundance was low (i.e., 100), and a minimum of 25% validation was required to achieve a CV of 15% and relative error less than 10%. When estimating abundance for small populations, higher validation effort is required to obtain sufficient precision in abundance estimates. Measurement error should not be overlooked in passive fish count technologies, and we provide a robust method for generating uncertainty in abundance estimates that increases their utility for population assessment and conservation.
Density gradient‐based adaptive refinement of analysis mesh for efficient multiresolution topology optimization
Authors: Mezzadri Francesco , Qian Xiaoping
Published: November 2021

In topology optimization, the finite‐element analysis of the problem is generally the most computationally demanding task of the solution process. In order to improve the efficiency of this phase, in this article we propose to represent regions with zero density gradient by a coarser analysis mesh. The design is instead represented in a uniform mesh. We motivate the density gradient‐based adaptive refinement by discussing the topological meaning of the density gradient and how it can help avoid loss of information during projections or interpolations between design and analysis meshes. We also study the adaptiveness of the mesh and its ability to detect the topology change of the design. An a posteriori error analysis is performed as well. Furthermore, we provide theoretical and numerical considerations on the reduction of the number of degrees of freedoms of the adaptive analysis mesh with respect to the uniform case. This translates into a faster solution of the analysis, as we show numerically. Finally, we solve several test problems, including large 3D problems that we solve in parallel on computer cluster, demonstrating the applicability of our procedure in large scale computing and with iterative solvers.
Dynamic instability of nanocomposite piezoelectric‐leptadenia pyrotechnica rheological elastomer‐porous functionally graded materials micro viscoelastic beams at various strain gradient higher‐order theories
Authors: Al‐Furjan M. S. H. , Yang Y. , Farrokhian Ahmad , Shen X. , Kolahchi Reza , Rajak Dipen Kumar
Published: October 2021

The dynamic stability response of a micro sandwich beam with leptadenia pyrotechnica rheological elastomer (LPRE) core is studied. The top and bottom layers respectively are assumed as piezoelectric reinforced with carbon nanotubes (CNTs) and porous functionally graded materials (FGM). The core and top layers are affected by magnetic and electric fields for the magnetic and piezoelectric characteristics of the layers, respectively. The Halpin‐Tsai micromechanics theory for obtaining the effective material properties of the nanocomposite layer is utilized. On the basis of Kelvin‐Voigt model, the structural damping of the smart micro beam is assumed. The microstructure is located on the viscoelastic model which is simulated using Visco‐Pasternak platform. The size effects are assumed according to the theory of strain gradient including three‐length scale constants. The various theories of first‐order shear deformation beam theory (FSDBT), third‐order shear deformation beam theory (TSDBT), parabolic shear deformation beam theory (PSDBT), and exponential shear deformation beam theory (ESDBT) are utilized for driving the governing equations according to the Hamilton's principle. The motion final relations are solved by the differential quadrature method (DQM) for presenting the dynamic buckling area. The effects of different components such as volume percentage and distribution of GPLs, porosities, magnetic field of LPRE, applied voltage, FG index, structural damping, and geometric components of the micro sandwich beam on the dynamic stability reign (DIR) of the system are shown. The results with other researcher papers are compared. The results show that the DIR increases by applying a magnetic field to the LPRE layer.
Characterization of fiber/matrix interfacial bonding strength of chemically grafted aramid fiber surface with epoxy resin composites
Authors: N Ramasamy , V Arumugam , C Suresh Kumar
Published: November 2021

This research work focuses to improve the interfacial adhesion in aramid/epoxy composites by various chemical treatments of aramid fiber surface. The effect of chemical grafting on the fiber surface was studied using X‐ray diffractometer and field emission scanning electron microscopy. In addition, short beam and microbond tests were carried out to evaluate the interlaminar shear strength (ILSS) and interfacial shear strength (IFSS) respectively. Moreover, the single fiber tensile strength and fracture toughness of treated and untreated (NT) aramid fibers were computed. The results reveal that the ILSS and IFSS of erpichlorohydrin with phosphoric acid pre‐treated (TE‐P) fibers having 140.92% and 66.89% higher than untreated (NT) fibers. Consequently, the single fiber tensile strength of surface modified aramid filament is 31.22% higher than the untreated (NT) filament. Later, the Weibull model was developed to predict the single fiber tensile strength. Significantly, the result shows that the interfacial fracture toughness of TE‐P treated fibers was improved by 170.10% as compared with untreated (NT) fibers. Finally, fractographic analysis was employed to validate the improvement of interfacial adhesion properties in aramid/epoxy composites.
β‐Cyclodextrin‐based macroporous monoliths: One‐pot oil‐in‐oil emulsion templating and adsorption
Authors: Berezovska Inna , Sanguramath Rajashekharayya A. , Silverstein Michael S.
Published: October 2021

The ability of β‐cyclodextrin (β‐CD) to form a host–guest complex with relatively hydrophobic molecules such as bisphenol A (BPA), a common wastewater contaminant, has inspired the development of β‐CD‐containing polymers for adsorption applications. For the most part, these polymers are powders, which can limit their applicability. Here, low‐density (~0.1 g cm−3), macroporous monoliths based on unmodified β‐CD were synthesized using emulsion templating. The relatively simple, one‐pot, polyurethane synthesis took place within the external phase of oil‐in‐oil (o/o) high internal phase emulsions (HIPEs) that contained β‐CD and a diisocyanate. The combination of o/o emulsions and a polyurethane reaction enabled the incorporation of relatively high β‐CD contents (up to 63 wt%) and limited the occurrence of the water–isocyanate urea reaction. The resulting open‐cell porous structures varied from an average pore size of 5.0 μm (lower surfactant content) to the typical structure associated with polyHIPEs (higher surfactant content), voids of ~50 μm and interconnecting holes ranging from submicrometer to ~2 μm. The compressive mechanical behaviors of the easily handled monoliths were similar to those of flexible foams, reaching strains of 70% without failure. The BPA adsorption capacities, up to 117.7 mg g−1, may make these monoliths advantageous for adsorption applications.