bluuebunny/crossref_metadata_2025_split huggingface dataset:
Smarca5-mediated epigenetic programming facilitates fetal HSPC development in vertebrates
Authors: Ding Yanyan , Wang Wen , Ma Dongyuan , Liang Guixian , Kang Zhixin , Xue Yuanyuan , Zhang Yifan , Wang Lu , Heng Jian , Zhang Yong , Liu Feng 
Published: August 2020

Abstract
Nascent hematopoietic stem and progenitor cells (HSPCs) acquire definitive hematopoietic characteristics only when they develop into fetal HSPCs; however, the mechanisms underlying fetal HSPC development are poorly understood. Here, we profiled the chromatin accessibility and transcriptional features of zebrafish nascent and fetal HSPCs using ATAC-seq and RNA-seq and revealed dynamic changes during HSPC transition. Functional assays demonstrated that chromatin remodeler-mediated epigenetic programming facilitates fetal HSPC development in vertebrates. Systematical screening of chromatin remodeler-related genes identified that smarca5 is responsible for the maintenance of chromatin accessibility at promoters of hematopoiesis-related genes in fetal HSPCs. Mechanistically, Smarca5 interacts with nucleolin to promote chromatin remodeling, thereby facilitating genomic binding of transcription factors to regulate expression of hematopoietic regulators such as bcl11ab. Our results unravel a new role of epigenetic regulation and reveal that Smarca5-mediated epigenetic programming is responsible for fetal HSPC development, which will provide new insights into the generation of functional HSPCs both in vivo and in vitro.
Sensing Behavior of Two Dimensional Al- and P-Doped WS2 Toward NO, NO2, and SO2: an Ab Initio Study
Authors: Cao Jiamu , Zhou Jing , Liu Junfeng , Wang Weiqi , Chen Junyu , Shi Jianing , Zhang Yufeng , Liu Xiaowei 
Published: August 2020

AbstractTwo-dimensional transition metal dichalcogenides (2D TMDs), such as WS2, are considered to have the potential for high-performance gas sensors. It is a pity that the interaction between gases and pristine 2D WS2 as the sensitive element is too weak so that the sensor response is difficult to detect. Herein, the sensing capabilities of Al- and P-doped WS2 to NO, NO2, and SO2 were evaluated. Especially, we considered selectivity to target gases and dopant concentration. Molecular models of the adsorption systems were constructed, and density functional theory (DFT) was used to explore the adsorption behaviors of these gases from the perspective of binding energy, band structure, and density of states (DOS). The results suggested that doping atoms could increase the adsorption strength between gas molecules and substrate. Besides, the sensitivity of P-doped WS2 to NO and NO2 was hardly affected by CO2 or H2O. The sensitivity of Al-doped WS2 to NO2 and SO2 was also hard to be affected by CO2 or H2O. For NO detection, the WS2 with 7.4% dopant concentration had better sensitive properties than that with a 3.7% dopant concentration. While for SO2, the result was just the opposite. This work provided a comprehensive reference for choosing appropriate dopants (concentration) into 2D materials for sensing noxious gases.
Development and validation of a RAD-Seq target-capture based genotyping assay for routine application in advanced black tiger shrimp (Penaeus monodon) breeding programs
Authors: Guppy Jarrod L. , Jones David B. , Kjeldsen Shannon R. , Le Port Agnes , Khatkar Mehar S. , Wade Nicholas M. , Sellars Melony J. , Steinig Eike J. , Raadsma Herman W. , Jerry Dean R. , Zenger Kyall R. 
Published: August 2020

Abstract
Background
The development of genome-wide genotyping resources has provided terrestrial livestock and crop industries with the unique ability to accurately assess genomic relationships between individuals, uncover the genetic architecture of commercial traits, as well as identify superior individuals for selection based on their specific genetic profile. Utilising recent advancements in de-novo genome-wide genotyping technologies, it is now possible to provide aquaculture industries with these same important genotyping resources, even in the absence of existing genome assemblies. Here, we present the development of a genome-wide SNP assay for the Black Tiger shrimp (Penaeus monodon) through utilisation of a reduced-representation whole-genome genotyping approach (DArTseq).

Results
Based on a single reduced-representation library, 31,262 polymorphic SNPs were identified across 650 individuals obtained from Australian wild stocks and commercial aquaculture populations. After filtering to remove SNPs with low read depth, low MAF, low call rate, deviation from HWE, and non-Mendelian inheritance, 7542 high-quality SNPs were retained. From these, 4236 high-quality genome-wide loci were selected for baits-probe development and 4194 SNPs were included within a finalized target-capture genotype-by-sequence assay (DArTcap). This assay was designed for routine and cost effective commercial application in large scale breeding programs, and demonstrates higher confidence in genotype calls through increased call rate (from 80.2 ± 14.7 to 93.0% ± 3.5%), increased read depth (from 20.4 ± 15.6 to 80.0 ± 88.7), as well as a 3-fold reduction in cost over traditional genotype-by-sequencing approaches.

Conclusion
Importantly, this assay equips the P. monodon industry with the ability to simultaneously assign parentage of communally reared animals, undertake genomic relationship analysis, manage mate pairings between cryptic family lines, as well as undertake advance studies of genome and trait architecture. Critically this assay can be cost effectively applied as P. monodon breeding programs transition to undertaking genomic selection.
Delayed cardiac tamponade following catheter ablation of frequent premature ventricular complexes: a case report
Authors: Xu Xiaoyong , Meng Xianghong , Ma Fusheng 
Published: August 2020

Abstract
Background
Cardiac tamponade is a potentially fatal complication after catheter ablation of ventricular arrhythmias. It often happens during or shortly after the procedure and needs urgent treatment. Here, we present a very incredible case about delayed cardiac tamponade after ablation of premature ventricular complexes.

Case presentation
A 66-year-old woman who underwent successful catheter ablation of right ventricular outflow tract origin premature ventricular complexes. Nineteen days after ablation, the patient experienced sudden syncope. Upon arriving at our hospital, she was “confused and shock”. Transthoracic echocardiography revealed hemorrhagic cardiac tamponade, which was considered due to a delayed tiny perforation in the heart induced by the previous ablation. Following an emergent pericardiocentesis to drain a 200 mL hemorrhagic effusion, the patient’s hemodynamics improved significantly. The patient was discharged after a 2-week hospitalization for investigating other probable causes with negative results. No signs of pericardial effusion recurred in a follow-up time of 12 months.

Conclusion
This case report demonstrated, for the first time, that very late post-procedural cardiac tamponade might occur after catheter ablation of ventricular arrhythmias, even without antithrombotic treatment.
Chronic active Epstein-Barr virus infection involving gastrointestinal tract mimicking inflammatory bowel disease
Authors: Xu Weijia , Jiang Xiaoyun , Chen Jiajie , Mao Qiqi , Zhao Xianguang , Sun Xu , Zhong Liang , Rong Lan 
Published: August 2020

Abstract
Background
Chronic active Epstein-Barr virus infection (CAEBV) is a rare disease, which is difficult to be differentiated from inflammatory bowel disease (IBD). To cause the attention, we present twelve cases of CAEBV in immunocompetent patients with gastrointestinal tract involvement.

Methods
Twelve patients who fulfilled the diagnostic criteria of CAEBV were enrolled in this retrospective study. The control group was consisted of twenty-four IBD patients with EBV-DNA value increased in peripheral blood. The clinicopathologic and endoscopic characteristics were reviewed and analyzed.

Results
The major clinical presentations of CAEBV patients were intermittent fever (100%), hepatomegaly/splenomegaly (58%), lymphadenopathy (50%), diarrhea (50%) and hematochezia (50%). Compared with IBD patients, the incidence of intermittent fever and increased level of ferritin were significantly higher among CAEBV patients. The median values for EBV detected in peripheral blood were significantly higher in CAEBV group (1.42*10^6 copies/μg) than in IBD group (3.2*10^3 copies/μg, p<0.05). The main endoscopic findings of CAEBV included multifocal or isolated, irregular, multiform ulcers and diffuse inflammation, lacking of typical cobblestone appearance. Ten patients died within 5 years of disease onset. The average survival time is 21 months.

Conclusions
Symptoms such as intermittent fever, increased level of ferritin and atypical endoscopic findings could be a sign for CAEBV. Early detections of EBV-DNA in serum and EBV-encoded small nuclear RNA (EBER) by in situ hybridization in intestinal tissue are essential for differential diagnosis between CAEBV and IBD.
Evaluation of NAFLD and fibrosis in obese patients – a comparison of histological and clinical scoring systems
Authors: Schmitz Sophia Marie-Therese , Kroh Andreas , Ulmer Tom Florian , Andruszkow Julia , Luedde Tom , Brozat Jonathan Frederik , Neumann Ulf Peter , Alizai Patrick Hamid 
Published: August 2020

Abstract
Background
Non-alcoholic fatty liver disease (NAFLD) is a frequent condition in obese patients and regularly progresses to non-alcoholic steatohepatitis (NASH) and subsequent cirrhosis. Histologic evaluation is the gold standard for grading and staging, but invasive biopsies are associated with obvious risks. The aim of this study was to evaluate different non-invasive tools for screening of NAFLD and fibrosis in obese patients.

Methods
In a prospective cohort study liver specimens of 141 patients were taken during bariatric surgery. Serological parameters and clinical data were collected and the following scores calculated: NASH clinical scoring system (NCS), aspartate aminotransferase to platelet ratio index (APRI), FIB-4 as well as NAFLD fibrosis score (NFS). Liver function capacity was measured preoperatively by LiMAx test (enzymatic capacity of cytochrome P450 1A2). Intraoperative liver biopsies were classified using NAFLD activity score (NAS) and steatosis, activity and fibrosis (SAF) score.

Results
APRI was able to differentiate between not NASH and definite NASH with a sensitivity of 74% and specificity of 67% (AUROC 0.76). LiMAx and NCS also showed significant differences between not NASH and definite NASH. No significant differences were found for NFS and Fib-4. APRI had a high sensitivity (83%) and specificity (76%) in distinguishing fibrosis from no fibrosis (AUROC = 0.81). NCS and Fib-4 also revealed high AUROCs (0.85 and 0.67), whereas LiMAx and NFS did not show statistically significant differences between fibrosis stages. Out of the patients with borderline NASH in the histologic NAS score, 48% were classified as NASH by SAF score.

Conclusions
APRI allows screening of NAFLD as well as fibrosis in obese patients. This score is easy to calculate and affordable, while conveniently only using routine clinical parameters. Using the NAS histologic scoring system bears the risk of underdiagnosing NASH in comparison to SAF score.
Germline RAD54L with somatic POLE defect implicated in Hypermutation phenotype: case report
Authors: Zohud Bisan Abdalfatah , Wang Meiling , Cai Xin 
Published: August 2020

Abstract
Background
Colorectal cancer is one of the most frequent causes of death among cancer patients. Hypermutated CRC is an extraordinary case of cancer, but curable if detected at early stages. However, the mechanism for developing a hypermutated CRC remains unclear. An association between RAD54L germline mutation and POLE exonuclease domain hypermutated cancer has not been reported before.

Case presentation
We present a rare case of a 41-year-old Chinese female with a right-sided colon adenocarcinoma who harboured a (p.P286R) POLE somatic mutation. Genomic analysis was performed using the Illumina HiSeq Sequencing platform, which, identified MSS tumour with a (c.1093_1169 + 15dup) germline mutation in RAD54L gene and tumour mutation burden of 377.0 Muts/Mb. Based on our report a new mechanism for developing hypermutated colon cancer has been conjectured through a novel RAD54L_POLE DSBR pathway.

Conclusion
This report highlights the clinical importance of next-generation sequencing technology in diagnosing rare tumours and investigating novel mechanisms for developing exceptional genetic diseases.
Medication omission rates in New Zealand residential aged care homes: a national description
Authors: Garratt Stephanie. M. , Kerse Ngaire. M. , Peri Kathryn , Jonas Monique. F. 
Published: August 2020

Abstract
Background
A medication omission is an event where a prescribed medication is not taken before the next scheduled dose. Medication omissions are typically classed as errors within Residential Aged Care (RAC) homes, as they have the potential to lead to harm if poorly managed, but may also stem from good clinical decision-making. This study aimed to quantify the incidence, prevalence, and types of medication omissions in RAC homes on a national scale, using a New Zealand-based sample.

Methods
We conducted retrospective pharmacoepidemiology of de-identified medication administration e-records from December 1st 2016 to December 31st 2017. Four tiers of de-identified data were collected: RAC home level data (ownership, levels of care), care staff level data (competency level/role), resident data (gender, age, level of care), and medication related data (omissions, categories of omissions, recorded reasons for omission). Data were analysed using SPSS version 24 and Microsoft Excel.

Results
A total of 11, 015 residents from 374 RAC homes had active medication charts; 8020 resided in care over the entire sample timeframe. A mean rate of 3.59 medication doses were omitted per 100 (±7.43) dispensed doses/resident. Seventy-three percent of residents had at least one dose omission. The most common omission category used was ‘not-administered’ (49.9%), followed by ‘refused’ (34.6%). The relationship between ownership type and mean rate of omission was significant (p = 0.002), corporate operated RAC homes had a slightly higher mean (3.73 versus 3.33), with greater variation. The most commonly omitted medications were Analgesics and Laxatives. Forty-eight percent of all dose omissions were recorded without a comment justifying the omission.

Conclusions
This unique study is the first to report rate of medication omissions per RAC resident over a one-year timeframe. Although the proportion of medications omitted reported in this study is less than previously reported by hospital-based studies, there is a significant relationship between a resident’s level of care, RAC home ownership types, and the rate of omission.
Prevalence and associated factors of malaria among pregnant women in Sherkole district, Benishangul Gumuz regional state, West Ethiopia
Authors: Gontie Girma Bekele , Wolde Haileab Fekadu , Baraki Adhanom Gebreegziabher 
Published: August 2020

Abstract
Background
Malaria during pregnancy leads to serious adverse effects on mothers and the fetus. Approximately 25 million pregnant women in sub-Saharan Africa live at risk of malaria. This study would help to achieve Sustainable Development Goals (SDGs) by improving programs that deal with the prevention of malaria. Therefore, this study aimed to assess the prevalence and associated factors of malaria among pregnant women.

Methods
A community-based cross-sectional study was conducted from July to August 2018 in Sherkole district, West Ethiopia. A multi-stage sampling technique was used to select 504 pregnant women. The interviewer-administered semi-structured questionnaire was used for data collection. Malaria was also diagnosed using a rapid diagnostic test. The data was entered using EPI info version 7.2.2.2 and transferred to SPSS version 20 for analysis. Descriptive statistics were done using frequency and percentages. Both bivariable and multivariable logistic regression models were employed. Variables having p-value < 0.2 were included in the final multivariable model. Variables having p-values < 0.05 from the multivariable model were considered to be significantly associated with the dependent variable. The adjusted odds ratio with its 95% confidence interval (CI) was used as a measure of association.

Results
Of the total 498 pregnant women who participated in this study, 51(10.2, 95% CI: 7.72–13.24) were found to have malaria. Of these, 46 (90.2%) and 5 (9.8%) were caused by Plasmodium falciparum and Plasmodium vivax, respectively. Decreasing Age (Adjusted Odds Ratio (AOR) 0.78; 95% CI 0.67–0.911), not using insecticide-treated bed net (ITN) (AOR 12.5; 95% CI 4.86–32.21), lack of consultation and health education about malaria prevention (AOR 7.18; 95% CI 2.74–18.81), being on second-trimester pregnancy (AOR 7.58; 95% CI 2.84–20.2), gravidae II (AOR 5.99; 95% CI 1.68–21.44) were found to be significantly associated with malaria during pregnancy.

Conclusion
Malaria is still a public health problem among pregnant women in the Sherkole district. Age, ITN use, gravidity, gestational age, and health education had a significant association with malaria. Screening pregnant women for asymptomatic malaria infection and educating and consulting on the appropriate malaria preventive methods shall be provided.
Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
Authors: Dong Bingzi , Chen Ying , Liu Xinying , Wang Yangang , Wang Fang , Zhao Yuhang , Sun Xiaofang , Zhao Wenjuan 
Published: August 2020

Abstract
Background
Gitelman syndrome is a rare salt-losing renal tubular disorder associated with mutation of SLC12A3 gene, which encodes the Na-Cl co-transporter (NCCT). Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system (RAAS) activation. Different SLC12A3 variants may lead to phenotypic variability and severity.

Methods
In this study, we reported the clinical features and genetic analysis of a Chinese pedigree diagnosed with Gitelman syndrome.

Results
The proband exhibited hypokalaemia, hypomagnesemia, metabolic alkalosis, but hypercalciuria and kidney stone formation. The increased urinary calcium excretion made it confused to Bartter syndrome. The persistent renal potassium wasting resulted in renal tubular lesions, and might affect urinary calcium reabsorption and excretion. Genetic analysis revealed mutations of SLC12A3 gene with c.433C > T (p.Arg145Cys), c.1077C > G (p.Asn359Lys), and c.1666C > T (p.Pro556Ser). Potential alterations of structure and function of NCCT protein due to those genetic variations of SLC12A3 are predicted. Interestingly, one sibling of the proband carried the same mutant sites and exhibited similar clinical features with milder phenotypes of hypokalemia and hypomagnesemia, but hypocalciuria rather than hypercalciuria. Family members with at least one wild type copy of SLC12A3 had normal biochemistry. With administration of spironolactone, potassium chloride and magnesium supplement, the serum potassium and magnesium were maintained within normal ranges.

Conclusions
In this study, we identified compound mutations of SLC12A3 associated with varieties of clinical features. Further efforts are needed to investigate the diversity in clinical manifestations of Gitelman syndrome and its correlation with specific SLC12A3 mutations.
The TRACK-PD study: protocol of a longitudinal ultra-high field imaging study in Parkinson’s disease
Authors: Wolters A. F. , Heijmans M. , Michielse S. , Leentjens A. F. G. , Postma A. A. , Jansen J. F. A. , Ivanov D. , Duits A. A. , Temel Y. , Kuijf M. L. 
Published: August 2020

Abstract
Background
The diagnosis of Parkinson’s Disease (PD) remains a challenge and is currently based on the assessment of clinical symptoms. PD is also a heterogeneous disease with great variability in symptoms, disease course, and response to therapy. There is a general need for a better understanding of this heterogeneity and the interlinked long-term changes in brain function and structure in PD. Over the past years there is increasing interest in the value of new paradigms in Magnetic Resonance Imaging (MRI) and the potential of ultra-high field strength imaging in the diagnostic work-up of PD. With this multimodal 7 T MRI study, our objectives are: 1) To identify distinctive MRI characteristics in PD patients and to create a diagnostic tool based on these differences. 2) To correlate MRI characteristics to clinical phenotype, genetics and progression of symptoms. 3) To detect future imaging biomarkers for disease progression that could be valuable for the evaluation of new therapies.

Methods
The TRACK-PD study is a longitudinal observational study in a cohort of 130 recently diagnosed (≤ 3 years after diagnosis) PD patients and 60 age-matched healthy controls (HC). A 7 T MRI of the brain will be performed at baseline and repeated after 2 and 4 years. Complete assessment of motor, cognitive, neuropsychiatric and autonomic symptoms will be performed at baseline and follow-up visits with wearable sensors, validated questionnaires and rating scales. At baseline a blood DNA sample will also be collected.

Discussion
This is the first longitudinal, observational, 7 T MRI study in PD patients. With this study, an important contribution can be made to the improvement of the current diagnostic process in PD. Moreover, this study will be able to provide valuable information related to the different clinical phenotypes of PD and their correlating MRI characteristics. The long-term aim of this study is to better understand PD and develop new biomarkers for disease progression which may help new therapy development. Eventually, this may lead to predictive models for individual PD patients and towards personalized medicine in the future.

Trial registration
Dutch Trial Register, NL7558. Registered March 11, 2019.