bluuebunny/crossref_metadata_2025 huggingface dataset:
Integrated Molecular Characterization of Fumarate Hydratase–deficient Renal Cell Carcinoma
Authors: Sun Guangxi , Zhang Xingming , Liang Jiayu , Pan Xiuyi , Zhu Sha , Liu Zhenhua , Armstrong Cameron M. , Chen Jianhui , Lin Wei , Liao Banghua , Lin Tianhai , Huang Rui , Zhang Mengni , Zheng Linmao , Yin Xiaoxue , Nie Ling , Shen Pengfei , Zhao Jinge , Zhang Haoran , Dai Jindong , Shen Yali , Li Zhiping , Liu Jiyan , Chen Junru , Liu Jiandong , Wang Zhipeng , Zhu Xudong , Ni Yuchao , Qin Dan , Yang Ling , Chen Yuntian , Wei Qiang , Li Xiang , Zhou Qiao , Huang Haojie , Yao Jin , Chen Ni , Zeng Hao
Published: January 2021

Purpose:

Fumarate hydratase–deficient renal cell carcinoma (FH-deficient RCC) is a rare but lethal subtype of RCC. Little is known about the genomic profile of FH-deficient RCC, and the therapeutic options for advanced disease are limited. To this end, we performed a comprehensive genomics study to characterize the genomic and epigenomic features of FH-deficient RCC.

Experimental Design:

Integrated genomic, epigenomic, and molecular analyses were performed on 25 untreated primary FH-deficient RCCs. Complete clinicopathologic and follow-up data of these patients were recorded.

Results:

We identified that FH-deficient RCC manifested low somatic mutation burden (median 0.58 mutations per megabase), but with frequent somatic copy-number alterations. The majority of FH-deficient RCCs were characterized by a CpG sites island methylator phenotype, displaying concerted hypermethylation at numerous CpG sites in genes of transcription factors, tumor suppressors, and tumor hallmark pathways. However, a few cases (20%) with low metastatic potential showed relatively low DNA methylation levels, indicating the heterogeneity of methylation pattern in FH-deficient RCC. Moreover, FH-deficient RCC is potentially highly immunogenic, characterized by increased tumor T-cell infiltration but high expression of immune checkpoint molecules in tumors. Clinical data further demonstrated that patients receiving immune checkpoint blockade–based treatment achieved improved progression-free survival over those treated with antiangiogenic monotherapy (median, 13.3 vs. 5.1 months; P = 0.03).

Conclusions:

These results reveal the genomic features and provide new insight into potential therapeutic strategies for FH-deficient RCC.
Adiponectin, Leptin and Cardiovascular Disorders
Authors: Zhao Shangang , Kusminski Christine M. , Scherer Philipp E.
Published: January 2021

The landmark discoveries of leptin and adiponectin firmly established adipose tissue as a sophisticated and highly active endocrine organ, opening a new era of investigating adipose-mediated tissue crosstalk. Both obesity-associated hyperleptinemia and hypoadiponectinemia are important biomarkers to predict cardiovascular outcomes, suggesting a crucial role for adiponectin and leptin in obesity-associated cardiovascular disorders. Normal physiological levels of adiponectin and leptin are indeed essential to maintain proper cardiovascular function. Insufficient adiponectin and leptin signaling results in cardiovascular dysfunction. However, a paradox of high levels of both leptin and adiponectin is emerging in the pathogenesis of cardiovascular disorders. Here, we (1) summarize the recent progress in the field of adiponectin and leptin and its association with cardiovascular disorders, (2) further discuss the underlying mechanisms for this new paradox of leptin and adiponectin action, and (3) explore the possible application of partial leptin reduction, in addition to increasing the adiponectin/leptin ratio as a means to prevent or reverse cardiovascular disorders.
Challenges of Cardio-Kidney Composite Outcomes in Large-Scale Clinical Trials
Authors: Patel Ravi B. , Ter Maaten Jozine M. , Ferreira João Pedro , McCausland Finnian R. , Shah Sanjiv J. , Rossignol Patrick , Solomon Scott D. , Vaduganathan Muthiah , Packer Milton , Thompson Aliza , Stockbridge Norman , Zannad Faiez
Published: January 2021

Patients with chronic cardiovascular or metabolic diseases, including diabetes, hypertension, obesity, and heart failure, often have comorbid kidney disease. Long-term outcomes are worse in the setting of both cardiac and kidney disease compared with either disease in isolation. In addition, the clinical presentations of certain acute cardiovascular events (such as heart failure) and worsening kidney function overlap and may be challenging to distinguish. Recently, certain novel treatments have demonstrated beneficial effects on both cardiac and kidney outcomes. Sodium-glucose cotransporter-2 inhibitors have exhibited concordant risk reduction and clinically important benefits in chronic kidney disease with and without diabetes, diabetes and established cardiovascular disease or multiple atherosclerotic vascular disease risk factors, and heart failure with reduced ejection fraction with and without diabetes. Primary trial results have revealed that sacubitril-valsartan therapy improves cardiovascular outcomes in patients with chronic heart failure with reduced ejection fraction and post hoc analyses suggest favorable kidney effects. A concordant pattern of kidney benefit with sacubitril-valsartan has also been observed in chronic heart failure with preserved ejection fraction. Given the complex interplay between cardiac and kidney disease and the possibility that treatments may show concordant cardio-kidney benefits, there has been recent interest in formally acknowledging, defining, and using composite cardio-kidney outcomes in future cardiovascular trials. This review describes potential challenges in use of such outcomes that should be considered and addressed before their incorporation into such trials.
Short P‐Wave Duration is a Marker of Higher Rate of Atrial Fibrillation Recurrences after Pulmonary Vein Isolation: New Insights into the Pathophysiological Mechanisms Through Computer Simulations
Authors: Auricchio Angelo , Özkartal Tardu , Salghetti Francesca , Neumann Laura , Pezzuto Simone , Gharaviri Ali , Demarchi Andrea , Caputo Maria Luce , Regoli François , De Asmundis Carlo , Chierchia Gian‐Battista , Brugada Pedro , Klersy Catherine , Moccetti Tiziano , Schotten Ulrich , Conte Giulio
Published: January 2021

Background

Short ECG P‐wave duration has recently been demonstrated to be associated with higher risk of atrial fibrillation (AF). The aim of this study was to assess the rate of AF recurrence after pulmonary vein isolation in patients with a short P wave, and to mechanistically elucidate the observation by computer modeling.

Methods and Results

A total of 282 consecutive patients undergoing a first single‐pulmonary vein isolation procedure for paroxysmal or persistent AF were included. Computational models studied the effect of adenosine and sodium conductance on action potential duration and P‐wave duration (PWD). About 16% of the patients had a PWD of 110 ms or shorter (median PWD 126 ms, interquartile range, 115 ms–138 ms; range, 71 ms–180 ms). At Cox regression, PWD was significantly associated with AF recurrence (
P
=0.012). Patients with a PWD <110 ms (hazard ratio [HR], 2.20; 95% CI, 1.24–3.88;
P
=0.007) and patients with a PWD ≥140 (HR, 1.87, 95% CI, 1.06–3.30;
P
=0.031) had a nearly 2‐fold increase in risk with respect to the other group. In the computational model, adenosine yielded a significant reduction of action potential duration 90 (52%) and PWD (7%). An increased sodium conductance (up to 200%) was robustly accompanied by an increase in conduction velocity (26%), a reduction in action potential duration 90 (28%), and PWD (22%).

Conclusions

One out of 5 patients referred for pulmonary vein isolation has a short PWD which was associated with a higher rate of AF after the index procedure. Computer simulations suggest that shortening of atrial action potential duration leading to a faster atrial conduction may be the cause of this clinical observation.
Notes about two taxa belonging to Silene sect. Arenosae (Caryophyllaceae)

Authors: JAFARI FARZANEH , RABELER RICHARD K.
Published: January 2021

Eggens et al. (2020) recently proposed to describe a new section Silene Linnaeus (1753: 416), i.e. sect. Arenosae Eggens, F.Jafari & Oxelman (in Eggens et al. 2020: 14), based on molecular and morphological data. A taxonomic treatment was provided including accepted names (with some nomenclatural changes), types, descriptions, distributions, and various notes. We have noticed two errors in that paper, the first one concerning the proposed new combination of S. kotschyi var. maritima Boissier (1867: 602), the second involving the typification of S. kowalenskyi Stschegleew (1853: 322). Corrections are presented below.
A new species of Diplotaxodon (Cichliformes: Cichlidae) from Lake Malaŵi
Authors: STAUFFER JAY R JR. , KONINGS ADRIANUS F.
Published: January 2021

A species of haplochromine cichlid fish of the genus Diplotaxodon Trewavas, endemic to Lake Malaŵi is described: Diplotaxodon dentatus, new species. All eight type specimens were trawled together off Thumbi East Island in the Southeastern arm of the lake at 73 meters in 1985. They were initially identified as D. argenteus because the teeth on the oral jaws were fully exposed with a closed mouth. The shorter snout length of D. dentatus (26.6–29.2 % HL) clearly separates it from D. argenteus (31.7–34.2 % HL). A plot of a principal components analysis further supports the separation of D. dentatus from D. argenteus.
Convective Cold Pools in Long-Term Boundary Layer Mast Observations
Authors: Kirsch Bastian , Ament Felix , Hohenegger Cathy
Published: January 2021

Cold pools are mesoscale features that are key for understanding the organization of convection, but are insufficiently captured in conventional observations. This study conducts a statistical characterization of cold-pool passages observed at a 280-m-high boundary layer mast in Hamburg (Germany) and discusses factors controlling their signal strength. During 14 summer seasons 489 cold-pool events are identified from rapid temperature drops below −2 K associated with rainfall. The cold-pool activity exhibits distinct annual and diurnal cycles peaking in July and midafternoon, respectively. The median temperature perturbation is −3.3 K at 2-m height and weakens above. Also the increase in hydrostatic air pressure and specific humidity is largest near the surface. Extrapolation of the vertically weakening pressure signal suggests a characteristic cold-pool depth of about 750 m. Disturbances in the horizontal and vertical wind speed components document a lifting-induced circulation of air masses prior to the approaching cold-pool front. According to a correlation analysis, the near-surface temperature perturbation is more strongly controlled by the pre-event saturation deficit (r = −0.71) than by the event-accumulated rainfall amount (r = −0.35). Simulating the observed temperature drops as idealized wet-bulb processes suggests that evaporative cooling alone explains 64% of the variability in cold-pool strength. This number increases to 92% for cases that are not affected by advection of midtropospheric low-Θe air masses under convective downdrafts.
Cold Pool Characteristics of Tornadic Quasi-Linear Convective Systems and Other Convective Modes Observed during VORTEX-SE
Authors: McDonald Jessica M. , Weiss Christopher C.
Published: January 2021

Many numerical studies have focused on the importance of baroclinically generated vorticity at the edge of cold pools in supercellular tornadogenesis, and observational work has consistently found that strongly tornadic supercells have less dense, more buoyant cold pools than weakly or nontornadic supercells. However, there is a lack of observational studies that consider potential relationships between cold pool characteristics (e.g., density) and tornado production within linear systems, such as mesoscale convective system (MCS) or quasi-linear convective system (QLCS) events. This study presents two tornadic QLCS events that were observed during the Verification of the Origins of Rotation in Tornadoes Experiment-Southeast (VORTEX-SE) field project in 2016 and 2017. Supercell and hybrid modes were also observed and compared to the observations from the linear systems. No obvious differences in the thermodynamic deficits of the tornadic and nontornadic samples were found, likely due to the weakness of the produced tornadoes (≤EF1) and the small tornadic sample size (five cold pools). Comparison across storm mode did find some differences, with QLCS cold pools producing larger virtual potential temperature and psuedoequivalent potential temperature deficits than those observed in supercells. More importantly, our findings suggest that, in a QLCS, the magnitude of density gradients along the leading edge of the cold pool may be related to tornadogenesis by virtue of the implied baroclinic vorticity generation.
Location of uronic acid group in Japanese cedar and Japanese beech wood cell walls as evaluated by the influences of minerals on thermal reactivity
Authors: Wang Jiawei , Minami Eiji , Kawamoto Haruo
Published: January 2021

The thermal reactivities of cellulose and hemicellulose are significantly different in cell walls when compared with isolated components and differ in Japanese cedar (softwood) and Japanese beech (hardwood). Uronic acid bound to xylan promotes the thermal degradation of cellulose and hemicellulose, and its effect is different depending on the form of free acid (acting as an acid catalyst) or metal uronate (acting as a base catalyst). We evaluated the location of uronic acid in the cell wall by identifying the components affected by demineralization in pyrolysis of cedar and beech wood. The thermal reactivities of xylan and glucomannan in beech were changed by demineralization, but in cedar, glucomannan and cellulose reactivities were changed. Therefore, the location of uronic acid in the cell wall was established and differed between cedar and beech; close to glucomannan and xylan in beech, but close to glucomannan and cellulose in cedar. Such information is important for understanding the ultrastructure and pyrolysis behavior of softwood and hardwood cell walls.
Successful management of retropharyngeal hematoma by trans-arterial embolism without intubation
Authors: Sugiura Gaku , Takahashi Hiroyuki , Kodama Yoshihisa , Nara Satoshi
Published: January 2021

Background

Retropharyngeal hematoma can cause suffocation if there is delay in securing the airway by intubation. However, there are also concerns about complications that can arise with intubation; it is still unknown which cases do not require intubation.

Case presentation

An 88-year-old woman slipped and was found prone and was transported to the emergency room. She was alert without any stridor. Physical examination revealed a subcutaneous hematoma in the anterior cervical region. Computed tomography revealed a retropharyngeal hematoma. Angiography and computed tomography angiography showed extravasation from the right costocervical trunk. A radiologist performed trans-arterial embolization, and she had an uneventful course without intubation or developing any complication. She became ambulatory on postoperative day 5.

Conclusion

Angiography and computed tomography angiography help in early recognition of extravasation in retropharyngeal hematoma, and trans-arterial embolization can help to avoid intubation and its complications.
Genetics and Genomics of African Rice (Oryza glaberrima Steud) Domestication
Authors: Wambugu Peterson W. , Ndjiondjop Marie-Noelle , Henry Robert
Published: January 2021

African rice (Oryza glaberrima Steud) is one of the two independently domesticated rice species, the other one being Asian rice (Oryza sativa L.). Despite major progress being made in understanding the evolutionary and domestication history of African rice, key outstanding issues remain controversial. There appears to be an underlying difficulty in identifying the domestication centre and number of times the crop has been domesticated. Advances in genomics have provided unprecedented opportunities for understanding the genetic architecture of domestication related traits. For most of the domestication traits, the underlying genes and mutations have been identified. Comparative analysis of domestication genes between Asian and African rice has revealed that the two species went through an independent but convergent evolution process. The genetic and developmental basis of some of the domestic traits are conserved not only between Asian and African rice but also with other domesticated crop species. Analysis of genome data and its interpretation is emerging as a major challenge facing studies of domestication in African rice as key studies continue giving contradictory findings and conclusions. Insights obtained on the domestication of this species are vital for guiding crop improvement efforts.
An unusual outcome of papillary renal cell carcinoma with lung metastases: a case report and review of literature
Authors: Ofori Emmanuel Owusu , Bin Alhassan Baba Alhaji , Ayabilah Edwina Ayaaba , Maison Patrick Opoku Manu , Asante-Asamani Alvin , Atawura Henry , Rahman Ganiyu Adebisi , Akakpo Patrick Kafui , Imbeah Emmanuel Gustav , Ofori Prince Wilson
Published: January 2021

Background

Renal cell carcinoma (RCC) is a heterogeneous group of malignant epithelial tumors of the kidney. It accounts for more than 90% of all kidney cancers. However, papillary RCC is the second most common histologic subtype representing 10–15% of all RCCs. The mean age of presentation for papillary RCC ranges between 59 and 63 years but more importantly when RCC is diagnosed at a younger age, the possibility of an underlying hereditary kidney cancer syndrome should be considered. RCC potentially metastasizes to many different organs with lung being the commonest site accounting for 45.2%. The treatment for metastatic RCC is mostly multimodal for most patients. However, patients with untreated pulmonary metastases have been observed to have very poor prognosis with a 5-year overall survival rate of only 5% or even less and thus the need to report on the unusual outcome of our patient who had a metastatic disease.

Case presentation

The present study reports a papillary renal cell carcinoma with multiple lung metastases in a 31-year-old woman who presented with progressive right flank mass and pain with no chest symptoms. She underwent cytoreductive radical nephrectomy via a right subcostal incision. Patient, however, did not undergo metastasectomy nor palliative systemic therapy and was seen 5 years post-nephrectomy.

Conclusion

Our patient with metastatic RCC, without undergoing metastasectomy nor palliative systemic therapy, remained stable with 5-year progression-free survival post-cytoreductive nephrectomy.
Whole genomic comparative analysis of Streptococcus pneumoniae serotype 1 isolates causing invasive and non-invasive infections among children under 5 years in Casablanca, Morocco
Authors: Nzoyikorera Néhémie , Diawara Idrissa , Fresia Pablo , Maaloum Fakhreddine , Katfy Khalid , Nayme Kaotar , Maaloum Mossaab , Cornick Jennifer , Chaguza Chrispin , Timinouni Mohammed , Belabess Houria , Zerouali Khalid , Elmdaghri Naima
Published: January 2021

Background

Streptococcus pneumoniae serotype 1 remains a leading cause of invasive pneumococcal diseases, even in countries with PCV-10/PCV-13 vaccine implementation. The main objective of this study, which is part of the Pneumococcal African Genome project (PAGe), was to determine the phylogenetic relationships of serotype 1 isolates recovered from children patients in Casablanca (Morocco), compared to these from other African countries; and to investigate the contribution of accessory genes and recombination events to the genetic diversity of this serotype.

Results

The genome average size of the six-pneumococcus serotype 1 from Casablanca was 2,227,119 bp, and the average content of coding sequences was 2113, ranging from 2041 to 2161. Pangenome analysis of the 80 genomes used in this study revealed 1685 core genes and 1805 accessory genes. The phylogenetic tree based on core genes and the hierarchical bayesian clustering analysis revealed five sublineages with a phylogeographic structure by country. The Moroccan strains cluster in two different lineages, the five invasive strains clusters altogether in a divergent clade distantly related to the non-invasive strain, that cluster with all the serotype 1 genomes from Africa.

Conclusions

The whole genome sequencing provides increased resolution analysis of the highly virulent serotype 1 in Casablanca, Morocco. Our results are concordant with previous works, showing that the phylogeography of S. pneumoniae serotype 1 is structured by country, and despite the small size (six isolates) of the Moroccan sample, our analysis shows the genetic cohesion of the Moroccan invasive isolates.
Analysis across diverse fish species highlights no conserved transcriptome signature for proactive behaviour
Authors: Rey Sonia , Jin Xingkun , Damsgård Børge , Bégout Marie-Laure , Mackenzie Simon
Published: January 2021

Background

Consistent individual differences in behaviour, known as animal personalities, have been demonstrated within and across species. In fish, studies applying an animal personality approach have been used to resolve variation in physiological and molecular data suggesting a linkage, genotype-phenotype, between behaviour and transcriptome regulation. In this study, using three fish species (zebrafish; Danio rerio, Atlantic salmon; Salmo salar and European sea bass; Dicentrarchus labrax), we firstly address whether personality-specific mRNA transcript abundances are transferrable across distantly-related fish species and secondly whether a proactive transcriptome signature is conserved across all three species.

Results

Previous zebrafish transcriptome data was used as a foundation to produce a curated list of mRNA transcripts related to animal personality across all three species. mRNA transcript copy numbers for selected gene targets show that differential mRNA transcript abundance in the brain appears to be partially conserved across species relative to personality type. Secondly, we performed RNA-Seq using whole brains from S. salar and D. labrax scoring positively for both behavioural and molecular assays for proactive behaviour. We further enriched this dataset by incorporating a zebrafish brain transcriptome dataset specific to the proactive phenotype. Our results indicate that cross-species molecular signatures related to proactive behaviour are functionally conserved where shared functional pathways suggest that evolutionary convergence may be more important than individual mRNAs.

Conclusions

Our data supports the proposition that highly polygenic clusters of genes, with small additive effects, likely support the underpinning molecular variation related to the animal personalities in the fish used in this study. The polygenic nature of the proactive brain transcriptome across all three species questions the existence of specific molecular signatures for proactive behaviour, at least at the granularity of specific regulatory gene modules, level of genes, gene networks and molecular functions.
Antimicrobial activity screening of rhizosphere soil bacteria from tomato and genome-based analysis of their antimicrobial biosynthetic potential
Authors: Zhou Lu , Song Chunxu , Li Zhibo , Kuipers Oscar P.
Published: January 2021

Background

Tomato plant growth is frequently hampered by a high susceptibility to pests and diseases. Traditional chemical control causes a serious impact on both the environment and human health. Therefore, seeking environment-friendly and cost-effective green methods in agricultural production becomes crucial nowadays. Plant Growth Promoting Rhizobacteria (PGPR) can promote plant growth through biological activity. Their use is considered to be a promising sustainable approach for crop growth. Moreover, a vast number of biosynthetic gene clusters (BGCs) for secondary metabolite production are being revealed in PGPR, which helps to find potential anti-microbial activities for tomato disease control.

Results

We isolated 181 Bacillus-like strains from healthy tomato, rhizosphere soil, and tomato tissues. In vitro antagonistic assays revealed that 34 Bacillus strains have antimicrobial activity against Erwinia carotovora, Pseudomonas syringae; Rhizoctonia solani; Botrytis cinerea; Verticillium dahliae and Phytophthora infestans. The genomes of 10 Bacillus and Paenibacillus strains with good antagonistic activity were sequenced. Via genome mining approaches, we identified 120 BGCs encoding NRPs, PKs-NRPs, PKs, terpenes and bacteriocins, including known compounds such as fengycin, surfactin, bacillibactin, subtilin, etc. In addition, several novel BGCs were identified. We discovered that the NRPs and PKs-NRPs BGCs in Bacillus species are encoding highly conserved known compounds as well as various novel variants.

Conclusions

This study highlights the great number of varieties of BGCs in Bacillus strains. These findings pave the road for future usage of Bacillus strains as biocontrol agents for tomato disease control and are a resource arsenal for novel antimicrobial discovery.
Plasma membrane vesicles from cauliflower meristematic tissue and their role in water passage
Authors: Garcia-Ibañez Paula , Nicolas-Espinosa Juan , Carvajal Micaela
Published: January 2021

Background

Cauliflower (Brassica oleracea L. var. botrytis) inflorescences are composed mainly of meristematic tissue, which has a high cellular proliferation. This considerable cellular density makes the inflorescence an organ with a large proportion of membranes. However, little is known about the specific role of the lipid and protein composition of the plasma membrane present in this organ.

Results

In this work, we analyzed the lipids and proteins present in plasma membrane from two different stages of development of cauliflower inflorescence and compared them with leaf plasma membrane. For this purpose, plasma membrane vesicles were obtained by centrifugation for each sample and the vesicular diameter and osmotic permeability (Pf) were analyzed by dynamic light scattering and the stopped-flow technique, respectively. In addition, fatty acids and sterols were analyzed by gas chromatography and HPLC. The protein composition of the inflorescences and leaves was characterized by HPLC-ESI-QTOF-MS and the data obtained were compared with Brassicaceae proteins present in the UniProt database in relation to the presence of aquaporins determined by western blot analysis. The highest Pf value was found in 90 day inflorescences-derived plasma membrane vesicles (61.4 ± 4.14 μms− 1). For sterols and fatty acids, the concentrations varied according to the organ of origin. The protein profile revealed the presence of aquaporins from the PIP1 and PIP2 subfamilies in both inflorescences and leaves.

Conclusion

This study shows that the composition of the sterols, the degree of unsaturation of the fatty acids, and the proteins present in the membranes analyzed give them high functionality for water passage. This represents an important addition to the limited information available in this field.
Genome-wide association study of yield and related traits in common wheat under salt-stress conditions
Authors: Hu Pan , Zheng Qi , Luo Qiaoling , Teng Wan , Li Hongwei , Li Bin , Li Zhensheng
Published: January 2021

Background

Soil salinization is a major threat to wheat production. It is essential to understand the genetic basis of salt tolerance for breeding and selecting new salt-tolerant cultivars that have the potential to increase wheat yield.

Result

In this study, a panel of 191 wheat accessions was subjected to genome wide association study (GWAS) to identify SNP markers linked with adult-stage characters. The population was genotyped by Wheat660K SNP array and eight phenotype traits were investigated under low and high salinity environments for three consecutive years. A total of 389 SNPs representing 11 QTLs were significantly associated with plant height, spike number, spike length, grain number, thousand kernels weight, yield and biological mass under different salt treatments, with the phenotypic explanation rate (R2) ranging from 9.14 to 50.45%. Of these, repetitive and pleiotropic loci on chromosomes 4A, 5A, 5B and 7A were significantly linked to yield and yield related traits such as thousand kernels weight, spike number, spike length, grain number and so on under low salinity conditions. Spike length-related loci were mainly located on chromosomes 1B, 3B, 5B and 7A under different salt treatments. Two loci on chromosome 4D and 5A were related with plant height in low and high salinity environment, respectively. Three salt-tolerant related loci were confirmed to be important in two bi-parental populations. Distribution of favorable haplotypes indicated that superior haplotypes of pleiotropic loci on group-5 chromosomes were strongly selected and had potential for increasing wheat salt tolerance. A total of 14 KASP markers were developed for nine loci associating with yield and related traits to improve the selection efficiency of wheat salt-tolerance breeding.

Conclusion

Utilizing a Wheat660K SNPs chip, QTLs for yield and its related traits were detected under salt treatment in a natural wheat population. Important salt-tolerant related loci were validated in RIL and DH populations. This study provided reliable molecular markers that could be crucial for marker-assisted selection in wheat salt tolerance breeding programs.
Characterization and functional analysis of phytoene synthase gene family in tobacco
Authors: Wang Zhaojun , Zhang Lin , Dong Chen , Guo Jinggong , Jin Lifeng , Wei Pan , Li Feng , Zhang Xiaoquan , Wang Ran
Published: January 2021

Background

Carotenoids play important roles in photosynthesis, hormone signaling, and secondary metabolism. Phytoene synthase (PSY) catalyzes the first step of the carotenoid biosynthetic pathway. In this study, we aimed to characterize the PSY genes in tobacco and analyze their function.

Results

In this study, we identified three groups of PSY genes, namely PSY1, PSY2, and PSY3, in four Nicotiana species; phylogenetic analysis indicated that these genes shared a high similarity with those in tomato but not with those in monocots such as rice and maize. The expression levels of PSY1 and PSY2 were observed to be highest in leaves compared to other tissues, and they could be elevated by treatment with certain phytohormones and exposure to strong light. No PSY3 expression was detected under these conditions. We constructed virus-induced PSY1 and PSY2 silencing in tobacco and found that the newly emerged leaves in these plants were characterized by severe bleaching and markedly decreased carotenoid and chlorophyll content. Thylakoid membrane protein complex levels in the gene-silenced plants were also less than those in the control plants. The chlorophyll fluorescence parameters such as Fv/Fm, ΦPSII, qP, and NPQ, which reflect photosynthetic system activities, of the gene-silenced plants were also significantly decreased. We further performed RNA-Seq and metabonomics analysis between gene-silenced tobacco and control plants. RNA-Seq results showed that abiotic stress, isoprenoid compounds, and amino acid catabolic processes were upregulated, whereas the biosynthesis of cell wall components was downregulated. Metabolic analysis results were consistent with the RNA-Seq. We also found the downstream genes in carotenoid biosynthesis pathways were upregulated, and putative transcription factors that regulate carotenoid biosynthesis were identified.

Conclusions

Our results suggest that PSY can regulate carotenoid contents not only by controlling the first biosynthesis step but also by exerting effects on the expression of downstream genes, which would thereby affect photosynthetic activity. Meanwhile, PSY may affect other processes such as amino acid catabolism and cell wall organization. The information we report here may aid further research on PSY genes and carotenoid biosynthesis.
The prevalence of hypercholesterolemia and associated risk factors in Al-Kharj population, Saudi Arabia: a cross-sectional survey
Authors: Al-Zahrani Jamaan , Shubair Mamdouh M. , Al-Ghamdi Sameer , Alrasheed Abdullah A. , Alduraywish Abdulrahman A. , Alreshidi Fayez Saud , Alshahrani Saeed Mastour , Alsalamah Majid , Al-Khateeb Badr F. , Ashathri Aljawharah Ibraheem , El-Metwally Ashraf , Aldossari Khaled K.
Published: January 2021

Background

Hypercholesterolemia (HC) is an important precursor to many cardiovascular, cerebrovascular, and peripheral vascular diseases. A report conducted by the American Heart Association showed the prevalence of HC to be 11.9%, with around 28.5 million adults age ≥ 20 years having high cholesterol levels. This study aimed to evaluate the prevalence of HC and its associated risk factors among the general population of Al-Kharj, Saudi Arabia.

Method

A cross-sectional study was conducted on the general population of Al-Kharj, Saudi Arabia in 2016. The representative sample consisted of 1019 individuals, who all participated on a voluntary basis. The statistical analysis was performed using SPSS version 25.

Results

The results of this study showed the prevalence of HC in the sample to be 12.5%. There was a significant moderate positive association between increasing age and the prevalence of HC (r = 0.240, P < 0.0001). Males had a significantly higher prevalence of HC (56.7%) compared to their female counterparts (43.3%) (X2 = 23.093, P ≤ 0.0001). BMI was positively and significantly associated with high cholesterol status. Participants in the overweight category had a significantly higher risk of HC (OR = 1.727; 95% CI = 1.58–1.914; P = 0.046). The non-obese (< 25 kg/m2) participants had an inverse significant association with the risk of hypercholesterolemia. (OR = 0.411; 95% CI = 0.216–0.783; P = 0.007).

Conclusion

In this population-based study, the predominant risk factors of HC in Al-Kharj region were being of a Saudi nationality, male, having obesity, being unemployed, and being a civilian worker. There is a clear need for future screening studies of HC, as most previous studies have reported contradictory prevalence data (because they were conducted in different regions of KSA). Furthermore, well-designed prospective cohort studies are needed in the future to assess how the association between lifestyle behavioural factors such as dietary intake patterns and levels of physical activity may affect the relative risk of HC status.
Health care providers’ perception of the frequent emergency department user issue and of targeted case management interventions: a cross-sectional national survey in Switzerland
Authors: Chastonay Oriane J. , Lemoine Melissa , Grazioli Véronique S. , Canepa Allen Marina , Kasztura Miriam , Moullin Joanna C. , Daeppen Jean-Bernard , Hugli Olivier , Bodenmann Patrick
Published: January 2021

Background

Frequent users of emergency departments (FUEDs) (≥5 ED visits/year) represent a vulnerable population with complex needs accounting for a significant number of emergency department (ED) consultations, thus contributing to EDs overcrowding. Research exploring ED staff perceptions of FUEDs is scarce.

Objectives

The current study aimed to evaluate in ED staff a) the extent to which FUEDs are perceived as an issue; b) their perceived levels of knowledge and understanding of FUEDs; c) levels of perceived usefulness of case management (CM) and interest in implementing this intervention in their ED service.

Methods

Head physicians of the EDs at all public hospitals in Switzerland (of various level of specialization) were sent a 19-item web-based survey, pilot tested prior to its dissemination. The head physicians were asked to forward the survey to ED staff members from different health professional backgrounds.

Results

The hospital response rate was 81% (85/106). The exploitable hospital response rate was 71% (75/106 hospitals) including 208 responding health professionals. Issues and difficulties around FUEDs were perceived as important by 64% of respondents. The perceived frequency of being confronted with FUEDs was higher among nurses in more specialized EDs. In total, 64% of respondents felt poorly informed about FUEDs, nurses feeling less informed than physicians. The understanding of FUEDs was lower in the French-Italian-speaking parts (FISP) of Switzerland than in the German-speaking part. Eighty-one percent of respondents had no precise knowledge of FUED-related interventions. The perceived usefulness of CM interventions after receiving explanations about it was high (92%). However, the overall level of interest for CM implementation was 59%. The interest in CM by physicians was low across all regions and ED categories. Nurses, on the other hand, showed more interest, especially those in EDs of high specialization.

Conclusions

The majority of ED staff reported being confronted with FUEDs on a regular basis. Staff perceived FUEDs as a vulnerable population, yet, they felt poorly informed about how to manage the issue. The majority of ED staff thought a CM intervention would be useful for FUEDs, however there appears to be a gap in their desire or willingness to implement such interventions.
Sedation practices for routine gastrointestinal endoscopy: a systematic review of recommendations
Authors: Dossa Fahima , Megetto Olivia , Yakubu Mafo , Zhang David D. Q. , Baxter Nancy N.
Published: January 2021

Background

Sedation is commonly used in gastrointestinal endoscopy; however, considerable variability in sedation practices has been reported. The objective of this review was to identify and synthesize existing recommendations on sedation practices for routine gastrointestinal endoscopy procedures.

Methods

We systematically reviewed guidelines and position statements identified through a search of PubMed, guidelines databases, and websites of relevant professional associations from January 1, 2005 to May 10, 2019. We included English-language guidelines/position statements with recommendations relating to sedation for adults undergoing routine gastrointestinal endoscopy. Documents with guidance only for complex endoscopic procedures were excluded.

We extracted and synthesized recommendations relating to: 1) choice of sedatives, 2) sedation administration, 3) personnel responsible for monitoring sedated patients, 4) skills and training of individuals involved in sedation, and 5) equipment required for monitoring sedated patients. We assessed the quality of included documents using the Appraisal of Guidelines for Research & Evaluation (AGREE) II tool.

Results

We identified 19 guidelines and 7 position statements meeting inclusion criteria. Documents generally agreed that a single, trained registered nurse can administer moderate sedation, monitor the patient, and assist with brief, interruptible tasks. Documents also agreed on the routine use of pulse oximetry and blood pressure monitoring during endoscopy. However, recommendations relating to the drugs to be used for sedation, the healthcare personnel capable of administering propofol and monitoring patients sedated with propofol, and the need for capnography when monitoring sedated patients varied. Only 9 documents provided a grade or level of evidence in support of their recommendations.

Conclusions

Recommendations for sedation practices in routine gastrointestinal endoscopy differ across guidelines/position statements and often lack supporting evidence with potential implications for patient safety and procedural efficiency.
Clinical features and outcomes of combined hepatocellular carcinoma and cholangiocarcinoma versus hepatocellular carcinoma versus cholangiocarcinoma after surgical resection: a propensity score matching analysis
Authors: Lin Chih-Wen , Wu Tsung-Chin , Lin Hung-Yu , Hung Chao-Ming , Hsieh Pei-Min , Yeh Jen-Hao , Hsiao Pojen , Huang Ya-Ling , Li Yu-Chan , Wang Ya-Chin , Shu Chih-Wen , Chen Yaw-Sen
Published: January 2021

Background

Combined hepatocellular carcinoma and cholangiocarcinoma (cHCC-CC) is an infrequent type of primary liver cancer that comprises hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC). This study investigated the clinicopathological features and prognosis among cHCC-CC, HCC, and CC groups.

Methods

We prospectively collected the data of 608 patients who underwent surgical resection for liver cancer between 2011 and 2018 at E-Da Hospital, I-Shou University, Kaohsiung, Taiwan. Overall, 505 patients with cHCC-CC, HCC, and CC were included, and their clinicopathological features, overall survival (OS), and recurrence were recorded. OS and recurrence rates were analyzed using the Kaplan–Meier analysis.

Results

In the entire cohort, the median age was 61 years and 80% were men. Thirty-five (7.0%) had cHCC-CC, 419 (82.9%) had HCC, and 51 (10.1%) had CC. The clinicopathological features of the cHCC-CC group were more identical to those of the HCC group than the CC group. OS was significantly lower in the cHCC-CC group than in the HCC group but was not significantly higher in the cHCC-CC group than in the CC group. The median OS of cHCC-CC, HCC, and CC groups was 50.1 months [95% confidence interval (CI): 38.7–61.2], 62.3 months (CI: 42.1–72.9), and 36.2 months (CI: 15.4–56.5), respectively. Cumulative OS rates at 1, 3, and 5 years in cHCC-CC, HCC, and CC groups were 88.5%, 62.2%, and 44.0%; 91.2%, 76.1%, and 68.0%; and 72.0%, 48.1%, and 34.5%, respectively. After propensity score matching (PSM), OS in the cHCC-CC group was not significantly different from that in the HCC or CC group. However, OS was significantly higher in the HCC group than in the CC group before and after PSM. Furthermore, the disease-free survival was not significantly different among cHCC-CC, HCC, and CC groups before and after PSM.

Conclusion

The clinicopathological features of the cHCC-CC group were more identical to those of the HCC group than the CC group. The OS rate was significantly lower in the cHCC-CC group than the HCC group. However, after PSM, OS and disease-free survival in the cHCC-CC group were not significantly different from those in the HCC or CC group.
Association between post-traumatic stress disorder symptoms and bone fractures after the Great East Japan Earthquake in older adults: a prospective cohort study from the Fukushima Health Management Survey
Authors:   the Fukushima Health Management Survey Group, Hayashi Fumikazu , Ohira Tetsuya , Nakano Hironori , Nagao Masanori , Okazaki Kanako , Harigane Mayumi , Yasumura Seiji , Maeda Masaharu , Takahashi Atsushi , Yabe Hirooki , Suzuki Yuriko , Kamiya Kenji
Published: January 2021

Background

It has been reported that psychological stress affects bone metabolism and increases the risk of fracture. However, the relationship between bone fractures and post-traumatic stress disorder (PTSD) is unclear. This study aimed to evaluate the effects of disaster-induced PTSD symptoms on fracture risk in older adults.

Methods

This study evaluated responses from 17,474 individuals aged ≥ 65 years without a history of fractures during the Great East Japan Earthquake who answered the Mental Health and Lifestyle Survey component of the Fukushima Health Management Survey conducted in 2011. The obtained data could determine the presence or absence of fractures until 2016. Age, sex, physical factors, social factors, psychological factors, and lifestyle factors were subsequently analyzed. Survival analysis was then performed to determine the relationship between the fractures and each factor. Thereafter, univariate and multivariate Cox proportional hazard models were constructed to identify fracture risk factors.

Results

In total, 2,097 (12.0%) fractures were observed throughout the follow-up period. Accordingly, univariate and multivariate Cox proportional hazard models showed that PTSD symptoms (total PTSD checklists scoring ≥ 44) [hazard ratio (HR): 1.26; 95% confidence interval (CI): 1.10–1.44; P = 0.001], history of cancer (HR: 1.49; 95% CI: 1.24–1.79; P < 0.001), history of stroke (HR: 1.25; 95% CI: 1.03–1.52; P = 0.023), history of heart disease (HR: 1.30; 95% CI: 1.13–1.50; P < 0.001), history of diabetes (HR: 1.23; 95% CI: 1.09–1.39; P < 0.001), current smoking (HR: 1.29; 95% CI: 1.02–1.63; P = 0.036), and high dissatisfaction with sleep or no sleep at all (HR: 1.33; 95% CI: 1.02–1.74; P = 0.035) promoted a significant increase in fracture risk independent of age and sex.

Conclusions

The present study indicates that disaster-induced PTSD symptoms and insomnia contribute to increased fracture risk among older adults residing in evacuation areas within the Fukushima Prefecture.
Predicting incidence of long-term care insurance certification in Japan with the Kihon Checklist for frailty screening tool: analysis of local government survey data
Authors: Ito Kumiko , Kawai Hisashi , Tsuruta Harukazu , Obuchi Shuichi
Published: January 2021

Background

Predicting incidence of long-term care insurance (LTCI) certification in the short term is of increasing importance in Japan. The present study examined whether the Kihon Checklist (KCL) can be used to predict incidence of LTCI certification (care level 1 or higher) in the short term among older Japanese persons.

Methods

In 2015, the local government in Tokyo, Japan, distributed the KCL to all individuals older than 65 years who had not been certified as having a disability or who had already been certified as requiring support level 1–2 according to LTCI system. We also collected LTCI certification data within the 3 months after collecting the KCL data. The data of 17,785 respondents were analyzed. First, we selected KCL items strongly associated with incidence of LTCI certification, using stepwise forward-selection multiple logistic regression. Second, we conducted receiver operating characteristic (ROC) analyses for three conditions (1: Selected KCL items, 2: The main 20 KCL items (nos. 1–20), 3: All 25 KCL items). Third, we estimated specificity and sensitivity for each condition.

Results

During a 3-month follow-up, 81 (0.5%) individuals required new LTCI certification. Eight KCL items were selected by multiple logistic regression as predictive of certification. The area under the ROC curve in the three conditions was 0.92–0.93, and specificity and sensitivity for all conditions were greater than 80%.

Conclusions

Three KCL conditions predicted short-term incidence of LTCI certification. This suggests that KCL items may be used to screen for the risk of incident LTCI certification.