bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expression quantitative trait loci in sheep liver and muscle contribute to variations in meat traits
Authors: Yuan Zehu , Sunduimijid Bolormaa , Xiang Ruidong , Behrendt Ralph , Knight Matthew I. , Mason Brett A. , Reich Coralie M. , Prowse-Wilkins Claire , Vander Jagt Christy J. , Chamberlain Amanda J. , MacLeod Iona M. , Li Fadi , Yue Xiangpeng , Daetwyler Hans D. 
Published: January 2021

Abstract
Background
Variants that regulate transcription, such as expression quantitative trait loci (eQTL), have shown enrichment in genome-wide association studies (GWAS) for mammalian complex traits. However, no study has reported eQTL in sheep, although it is an important agricultural species for which many GWAS of complex meat traits have been conducted. Using RNA sequence data produced from liver and muscle from 149 sheep and imputed whole-genome single nucleotide polymorphisms (SNPs), our aim was to dissect the genetic architecture of the transcriptome by associating sheep genotypes with three major molecular phenotypes including gene expression (geQTL), exon expression (eeQTL) and RNA splicing (sQTL). We also examined these three types of eQTL for their enrichment in GWAS of multi-meat traits and fatty acid profiles.

Results
Whereas a relatively small number of molecular phenotypes were significantly heritable (h2 > 0, P < 0.05), their mean heritability ranged from 0.67 to 0.73 for liver and from 0.71 to 0.77 for muscle. Association analysis between molecular phenotypes and SNPs within ± 1 Mb identified many significant cis-eQTL (false discovery rate, FDR < 0.01). The median distance between the eQTL and transcription start sites (TSS) ranged from 68 to 153 kb across the three eQTL types. The number of common variants between geQTL, eeQTL and sQTL within each tissue, and the number of common variants between liver and muscle within each eQTL type were all significantly (P < 0.05) larger than expected by chance. The identified eQTL were significantly (P < 0.05) enriched in GWAS hits associated with 56 carcass traits and fatty acid profiles. For example, several geQTL in muscle mapped to the FAM184B gene, hundreds of sQTL in liver and muscle mapped to the CAST gene, and hundreds of sQTL in liver mapped to the C6 gene. These three genes are associated with body composition or fatty acid profiles.

Conclusions
We detected a large number of significant eQTL and found that the overlap of variants between eQTL types and tissues was prevalent. Many eQTL were also QTL for meat traits. Our study fills a gap in the knowledge on the regulatory variants and their role in complex traits for the sheep model.
Proprotein convertase subtilisin/kexin type 9 (PCSK9) levels are not associated with severity of liver disease and are inversely related to cholesterol in a cohort of thirty eight patients with liver cirrhosis
Authors: Feder Susanne , Wiest Reiner , Weiss Thomas S. , Aslanidis Charalampos , Schacherer Doris , Krautbauer Sabrina , Liebisch Gerhard , Buechler Christa 
Published: January 2021

Abstract
Background
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is of particular importance in cholesterol metabolism with high levels contributing to hypercholesterolemia. Cholesterol and sphingolipids are low in patients with liver cirrhosis. Purpose of this study was to find associations of plasma PCSK9 with circulating cholesterol and sphingolipid species and measures of liver disease severity in patients with liver cirrhosis.

Methods
PCSK9 protein levels were determined by ELISA in systemic vein (SVP), hepatic vein (HVP) and portal vein plasma of patients with mostly alcoholic liver cirrhosis. PCSK9 and LDL-receptor protein expression were analysed in cirrhotic and non-cirrhotic liver tissues.

Results
Serum PCSK9 was reduced in patients with liver cirrhosis in comparison to non-cirrhotic patients. In liver cirrhosis, plasma PCSK9 was not correlated with Child-Pugh score, Model for End-Stage Liver Disease score, bilirubin or aminotransferases. A negative association of SVP PCSK9 with albumin existed. PCSK9 protein in the liver did not change with fibrosis stage and was even positively correlated with LDL-receptor protein levels. Ascites volume and variceal size were not related to PCSK9 levels. Along the same line, transjugular intrahepatic shunt to lower portal pressure did not affect PCSK9 concentrations in the three blood compartments. Serum cholesterol, sphingomyelin and ceramide levels did not correlate with PCSK9. Stratifying patients by high versus low PCSK9 levels using the median as cut-off, several cholesteryl ester species were even low in the subgroup with high PCSK9 levels. A few sphingomyelin species were also reduced in the patients with PCSK9 levels above the median. PCSK9 is highly expressed in the liver but systemic, portal and hepatic vein levels were similar. PCSK9 was not correlated with the inflammatory proteins C-reactive protein, IL-6, galectin-3, resistin or pentraxin 3. Of note, HVP PCSK9 was positively associated with HVP chemerin and negatively with HVP adiponectin levels.

Conclusions
In the cohort of patients with liver cirrhosis mostly secondary to alcohol consumption high PCSK9 was associated with low levels of certain cholesteryl ester and sphingomyelin species. Positive correlations of PCSK9 and LDL-receptor protein in the liver of patients with chronic liver injury are consistent with these findings.
Development and validation of new poisoning mortality score system for patients with acute poisoning at the emergency department
Authors: Han Kap Su , Kim Su Jin , Lee Eui Jung , Shin Joong Ho , Lee Ji Sung , Lee Sung Woo 
Published: January 2021

Abstract
Background
A prediction model of mortality for patients with acute poisoning has to consider both poisoning-related characteristics and patients’ physiological conditions; moreover, it must be applicable to patients of all ages. This study aimed to develop a scoring system for predicting in-hospital mortality of patients with acute poisoning at the emergency department (ED).

Methods
This was a retrospective analysis of the Injury Surveillance Cohort generated by the Korea Center for Disease Control and Prevention (KCDC) during 2011–2018. We developed the new-Poisoning Mortality Scoring system (new-PMS) to generate a prediction model using the derivation group (2011–2017 KCDC cohort). Points were computed for categories of each variable. The sum of these points was the new-PMS. The validation group (2018 KCDC cohort) was subjected to external temporal validation. The performance of new-PMS in predicting mortality was evaluated using area under the receiver operating characteristic curve (AUROC) for both the groups.

Results
Of 57,326 poisoning cases, 42,568 were selected. Of these, 34,352 (80.7%) and 8216 (19.3%) were enrolled in the derivation and validation groups, respectively. The new-PMS was the sum of the points for each category of 10 predictors. The possible range of the new-PMS was 0–137 points. Hosmer–Lemeshow goodness-of-fit test showed adequate calibration for the new-PMS with p values of 0.093 and 0.768 in the derivation and validation groups, respectively. AUROCs of the new-PMS were 0.941 (95% CI 0.934–0.949, p < 0.001) and 0.946 (95% CI 0.929–0.964, p < 0.001) in the derivation and validation groups, respectively. The sensitivity, specificity, and accuracy of the new-PMS (cutoff value: 49 points) were 86.4%, 87.2%, and 87.2% and 85.9%, 89.5%, and 89.4% in the derivation and validation groups, respectively.

Conclusions
We developed a new-PMS system based on demographic, poisoning-related variables, and vital signs observed among patients at the ED. The new-PMS showed good performance for predicting in-hospital mortality in both the derivation and validation groups. The probability of death increased according to the increase in the new-PMS. The new-PMS accurately predicted the probability of death for patients with acute poisoning. This could contribute to clinical decision making for patients with acute poisoning at the ED.
Topographic patterns of white matter hyperintensities are associated with multimodal neuroimaging biomarkers of Alzheimer’s disease
Authors: Gaubert Malo , Lange Catharina , Garnier-Crussard Antoine , Köbe Theresa , Bougacha Salma , Gonneaud Julie , de Flores Robin , Tomadesso Clémence , Mézenge Florence , Landeau Brigitte , de la Sayette Vincent , Chételat Gaël , Wirth Miranka 
Published: January 2021

Abstract
Background
White matter hyperintensities (WMH) are frequently found in Alzheimer’s disease (AD). Commonly considered as a marker of cerebrovascular disease, regional WMH may be related to pathological hallmarks of AD, including beta-amyloid (Aβ) plaques and neurodegeneration. The aim of this study was to examine the regional distribution of WMH associated with Aβ burden, glucose hypometabolism, and gray matter volume reduction.

Methods
In a total of 155 participants (IMAP+ cohort) across the cognitive continuum from normal cognition to AD dementia, FLAIR MRI, AV45-PET, FDG-PET, and T1 MRI were acquired. WMH were automatically segmented from FLAIR images. Mean levels of neocortical Aβ deposition (AV45-PET), temporo-parietal glucose metabolism (FDG-PET), and medial-temporal gray matter volume (GMV) were extracted from processed images using established AD meta-signature templates. Associations between AD brain biomarkers and WMH, as assessed in region-of-interest and voxel-wise, were examined, adjusting for age, sex, education, and systolic blood pressure.

Results
There were no significant associations between global Aβ burden and region-specific WMH. Voxel-wise WMH in the splenium of the corpus callosum correlated with greater Aβ deposition at a more liberal threshold. Region- and voxel-based WMH in the posterior corpus callosum, along with parietal, occipital, and frontal areas, were associated with lower temporo-parietal glucose metabolism. Similarly, lower medial-temporal GMV correlated with WMH in the posterior corpus callosum in addition to parietal, occipital, and fontal areas.

Conclusions
This study demonstrates that local white matter damage is correlated with multimodal brain biomarkers of AD. Our results highlight modality-specific topographic patterns of WMH, which converged in the posterior white matter. Overall, these cross-sectional findings corroborate associations of regional WMH with AD-typical Aß deposition and neurodegeneration.
“An apple pie a day does not keep the doctor away”: Fictional depictions of gout in contemporary film and television
Authors: Derksen Christina , Murdoch Rachel , Petrie Keith J. , Dalbeth Nicola 
Published: January 2021

Abstract
Background
Fictional portrayals of illness and medical management in film and television can reflect and perpetuate cultural stereotypes about illness. The aim of this study was to analyse fictional depictions of gout in contemporary film and television.

Methods
We conducted a search for English language depictions of gout in film and television since 1990 using the Internet Movie Database (IMDb), other internet media databases, and member suggestions from the Gout, Hyperuricemia and Crystal-Associated Disease Network (G-CAN). Film and television episodes with gout content were analysed for depictions of characters with gout, causal factors, and management strategies (n=44).

Results
Gout was used to denote royalty or nobility in historical settings, and as a plot device to explain the absence of characters from key events. The most commonly depicted causes of gout were overindulgence of food and alcohol (61%), and portrayals of biological causes were infrequent (12%). Common management strategies were change in diet (36%) and short-term pain relief (32%), with only one mention of urate-lowering therapy (5%). The majority of films and television episodes depicted gout as humorous (59%) and embarrassing (50%).

Conclusions
In contemporary film and television, gout is portrayed as a humorous and embarrassing condition, caused by dietary indulgence. These depictions may reinforce inaccurate beliefs about the causes of gout and its management.
Chemical composition and toxicity of some Agro waste-derived insecticides against Angoumois grain moth, Sitotroga ceralella (Olivier) [Lepidoptera: Gelechiidae] infesting stored paddy grains
Authors: Ashamo Michael Olufemi , Ileke Kayode David , Onasile Ayomiposi Idowu 
Published: January 2021

Abstract
Background
Agriculture being one of the major practices in the world has contributed to environmental pollution, especially in developing countries where there were no equipment to recycle the agricultural wastes. Considering the high level of infestation of paddy by Sitotroga cerealella and the high level of pollution caused by agricultural wastes, this research investigated the chemical composition and toxicity of agro wastes (rice husk, maize cob, groundnut and cowpea pods) as eco-friendly protectants of paddy against Sitotroga cerealella. Parameters assessed include adult mortality, oviposition, adult emergence and egg hatchability. Gas chromatography and mass spectrophotometry were used to isolate and characterize the active compounds present in the most effective crude extract.

Results
The results of the study revealed that all agricultural wastes showed high mortality effect on S. cerealella. Cowpea pod powder was the most toxic to adult paddy moth that caused 33.33%, 36.67%, 46.67%, 50% and 60% mortality of S. cerealella at concentrations 0.1 g, 0.2 g, 0.3 g, 0.4 g and 0.5 g/20 g of paddy grains after 24 h of exposure, respectively. The Cowpea pod, groundnut pod and maize cob extracts caused 100% mortality of S. cerealella at concentration 0.5 ml/20 g of paddy grains after 96 h of exposure, respectively. The lethal concentrations LC50 and LC90 of cowpea pod after 24 h were 0.16 and 0.64 ml which were the lowest of all agro waste extract tested. GC–MS analysis revealed that 19 chemical compounds were present in cowpea pod extract, 9, 12-Octadecadienoic acid (a methyl ester) has the highest percentage total of 39.57% and 4-Pentenal, 2-methylene (0.12%) has the least percentage total.

Conclusion
All the observations revealed that cowpea pod was the most effective. The findings also suggested that the selected agricultural wastes have a promising insecticidal potential and can be used as alternatives to synthetic chemical insecticides for the control of stored product insects.
High prevalence of qnrA and qnrB genes among fluoroquinolone-resistant Escherichia coli isolates from a tertiary hospital in Southern Nigeria
Authors: Nsofor Chibuzor M. , Tattfeng Mirabeau Y. , Nsofor Chijioke A. 
Published: January 2021

Abstract
Background
This study was aimed to determine the prevalence of qnr genes among fluoroquinolone-resistant Escherichia coli (FREC) isolates from Nigeria. Antimicrobial susceptibility testing was performed by disc diffusion technique. Polymerase chain reaction was used to identify Escherichia coli (E. coli) and for the detection of qnr genes.

Results
A total of 206 non-duplicate E. coli were isolated from 300 clinical specimens analyzed. In all, 30 (14.6%) of these isolates were FREC; the resistance to fluoroquinolones among these 30 FREC showed 80% (24), 86.7% (26), 86.7% (26), 100% (30), 86.7% (26), 93.3% (28) and 86.7% (26) were resistant to pefloxacin, ciprofloxacin, sparfloxacin, levofloxacin, nalidixic acid, ofloxacin and moxifloxacin, respectively. The distribution of FREC among the various sample sources analyzed showed that 14%, 10%, 13.3%, 16.7% and 20% of the isolates came from urine, stool, high vaginal swab, endo cervical swab and wound swab specimens, respectively. More FREC were isolated from female samples 73.3% (22) compared to male samples 26.7% (8) and were more prevalent among the age group 26–35 years (40%). Twenty eight out of the 30 (93.3%) FREC isolates possessed at least one fluoroquinolone resistance gene in the form of qnrA 10 (33.3%) and qnrB 18 (60%), respectively; qnrS was not detected among the FREC isolates analyzed and 13.5% of the isolates possessed both the qnrA and qnrB genes. Phylogenetic analysis showed that these isolates were genetically diverse.

Conclusions
These findings suggest a possible resistance to fluoroquinolone is of high interest for better management of patients and control of antimicrobial resistance in Nigeria.
Exploring the use of spectral indices to assess alterations in soil properties in pine stands affected by crown fire in Spain
Authors: Fernández Cristina , Fernández-Alonso José Mª , Vega José A. , Fontúrbel Teresa , Llorens Rafael , Sobrino José A. 
Published: January 2021

Abstract
Background
Forest fires have increased in extent and intensity in the Mediterranean area in recent years, threatening forest ecosystems through loss of vegetation, changes in soil properties, and increased soil erosion rates, particularly in severely burned areas. However, establishing the relationships between burn severity and soil properties that determine infiltration remain challenging. Determining where soil burn severity evaluation should be carried out is critical for planning urgent measures to mitigate post-fire soil erosion. Although previous research has indicated that spectral indices are suitable for assessing fire severity, most of the classifications used consider combined effects in vegetation and soil. Moreover, the relationship between spectral indices and soil burn severity has scarcely been explored until now.

Results
We selected three pine stands in Spain for study immediately after being burned by wildfires. We analyzed various soil properties (soil saturated hydraulic conductivity, mean weight diameter of soil aggregates, and soil organic carbon) in relation to six levels of soil burn severity in all three stands. In addition, we established 25 field plots in the burned areas. We computed ten spectral indices for each plot by using Sentinel-2 satellite data. The soil burn severity categories indicated the degree of degradation of important soil properties related to soil erosion susceptibility. Of the spectral indices considered, the relativized burn ratio (RBR) was the best predictor of cumulative infiltration and mean weight diameter of soil aggregates. The differenced mid-infrared bispectral index (dMIRBI) was most closely correlated with soil organic carbon content.

Conclusions
The findings demonstrate the potential applicability of remote sensing to determining changes in soil properties after fire.
Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center
Authors: Masuya Hiroshi , Usuda Daiki , Nakata Hatsumi , Yuhara Naomi , Kurihara Keiko , Namiki Yuri , Iwase Shigeru , Takada Toyoyuki , Tanaka Nobuhiko , Suzuki Kenta , Yamagata Yuki , Kobayashi Norio , Yoshiki Atsushi , Kushida Tatsuya 
Published: January 2021

AbstractOnline databases are crucial infrastructures to facilitate the wide effective and efficient use of mouse mutant resources in life sciences. The number and types of mouse resources have been rapidly growing due to the development of genetic modification technology with associated information of genomic sequence and phenotypes. Therefore, data integration technologies to improve the findability, accessibility, interoperability, and reusability of mouse strain data becomes essential for mouse strain repositories. In 2020, the RIKEN BioResource Research Center released an integrated database of bioresources including, experimental mouse strains, Arabidopsis thaliana as a laboratory plant, cell lines, microorganisms, and genetic materials using Resource Description Framework-related technologies. The integrated database shows multiple advanced features for the dissemination of bioresource information. The current version of our online catalog of mouse strains which functions as a part of the integrated database of bioresources is available from search bars on the page of the Center (https://brc.riken.jp) and the Experimental Animal Division (https://mus.brc.riken.jp/) websites. The BioResource Research Center also released a genomic variation database of mouse strains established in Japan and Western Europe, MoG+ (https://molossinus.brc.riken.jp/mogplus/), and a database for phenotype-phenotype associations across the mouse phenome using data from the International Mouse Phenotyping Platform. In this review, we describe features of current version of databases related to mouse strain resources in RIKEN BioResource Research Center and discuss future views.
Ligand-based drug design and molecular docking simulation studies of some novel anticancer compounds on MALME-3M melanoma cell line
Authors: Umar Abdullahi Bello , Uzairu Adamu , Shallangwa Gideon Adamu , Uba Sani 
Published: January 2021

Abstract
Background
Melanoma cancer causes serious health problem worldwide because of its rapid invasion to other organs and lack of satisfactory chemotherapy. The pGI50 anticancer activity values of 70 compounds from the NCI (National Cancer Institute) on MALME-3M cell line was modeled to describe the quantitative structure-activity relationships (QSARs) of the compounds, and some selected compounds were docked.

Results
The generated QSAR model was found to be statistically significant based on the obtained values of the validation keys such as R2 (0.885), $$ {R}_{\mathrm{adjusted}}^2 $$

R
adjusted
2

(0.868), Q2cv (0.842), and $$ {R}_{pred}^2 $$

R
pred
2

(0.738) required to evaluate the strength and robustness of QSAR model. Compound 39 was selected as a template due to its good pGI50 (9.205) and was modified to design new potent compounds. The predicted pGI50 activity of the designed compounds by the built model was N1 (9.836), N2 (12.876), N3 (10.901), and N4 (11.263) respectively. These proposed compounds were docked with V600E-BRAF receptor and the result shows that, N1, N2, N3, and N4 with free binding energy (FBE) of − 11.7 kcal mol−1, − 12.8 kcal mol−1, − 12.7 kcal mol−1, and − 12.9 kcal mol−1 respectively were better than the parent structure of the template (compound 39, FBE = − 7.0 kcal mol−1) and the standard V600E-BRAF inhibitor (Vemurafenib, FBE = − 11.3 kcal mol−1). Additionally, these compounds passed the drug-likeness criteria successfully to be orally bioavailable.

Conclusion
The proposed compounds were considered optimal as their performances are comparable to vemurafenib and possessed enhanced physicochemical properties. Thus recommends further research such as synthesis, in vivo, and ex-vivo evaluation.
Fetus in fetu: two case reports from North African country
Authors: Ragab Moutaz , Abdelhakeem Omar Nagy , Mansour Omar , Gad Mai , Hussein Hesham Anwar 
Published: January 2021

Abstract
Background
Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally.

Case presentation
We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis.

Conclusions
Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.