bluuebunny/crossref_metadata_2025_split huggingface dataset:
Global epidemiology of atrial fibrillation: An increasing epidemic and public health challenge
Authors: Lippi Giuseppe , Sanchis-Gomar Fabian , Cervellin Gianfranco 
Published: January 2020

Background Atrial fibrillation is the most frequent cardiac arrhythmia. It has been estimated that 6–12 million people worldwide will suffer this condition in the US by 2050 and 17.9 million people in Europe by 2060. Atrial fibrillation is a major risk factor for ischemic stroke and provokes important economic burden along with significant morbidity and mortality. Aim We provide here comprehensive and updated statistics on worldwide epidemiology of atrial fibrillation. Methods An electronic search was conducted for atrial fibrillation. The epidemiologic information was retrieved from the Global Health Data Exchange database, which is regarded as one of the most comprehensive worldwide catalogs of surveys, censuses, vital statistics, and other health-related data. Results A total of 3.046 million new cases of atrial fibrillation worldwide were registered in the database during 2017. The estimated incidence rate for 2017 (403/millions inhabitants) was 31% higher than the corresponding incidence in 1997. The worldwide prevalence of atrial fibrillation is 37,574 million cases (0.51% of worldwide population), increased also by 33% during the last 20 years. The highest burden is seen in countries with high socio-demographic index, though the largest recent increased occurred in middle socio-demographic index countries. Future projections suggest that absolute atrial fibrillation burden may increase by >60% in 2050. Conclusions Our analyses suggest that atrial fibrillation incidence and prevalence have increased over the last 20 years and will continue to increase over the next 30 years, especially in countries with middle socio-demographic index, becoming one of the largest epidemics and public health challenges.
WEE1 inhibition synergizes with CHOP chemotherapy and radiation therapy through induction of premature mitotic entry and DNA damage in diffuse large B-cell lymphoma
Authors: de Jong Mathilde R. W. , Langendonk Myra , Reitsma Bart , Herbers Pien , Lodewijk Monique , Nijland Marcel , van den Berg Anke , Ammatuna Emanuele , Visser Lydia , van Meerten Tom 
Published: January 2020

Background: Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous disease, characterized by high levels of genomic instability and the activation of DNA damage repair pathways. We previously found high expression of the cell cycle regulator WEE1 in DLBCL cell lines. Here, we investigated the combination of the WEE1 inhibitor, AZD1775, with cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) and radiation therapy (RT), with the aim of improving first-line treatment. Methods: Cell viability experiments were performed to determine synergistic combinations. Levels of DNA damage were established using flow cytometry for γH2AX and protein analysis for DNA damage response proteins CHK1 and CHK2. Flow cytometry analysis for cell cycle and pH3 were performed to determine cell cycle distribution and premature mitotic entry. Results: Treatment with either RT or CHOP led to enhanced sensitivity to AZD1775 in several DLBCL cell lines. Treatment of cells with AZD1775 induced unscheduled mitotic progression, resulting in abnormal cell cycle distribution in combination with RT or CHOP treatment. In addition, a significant increase in DNA damage was observed compared with CHOP or RT alone. Of the single CHOP components, doxorubicin showed the strongest effect together with AZD1775, reducing viability and increasing DNA damage. Conclusion: In conclusion, the combination of RT or CHOP with AZD1775 enhances sensitivity to WEE1 inhibition through unscheduled G2/M progression, leading to increased DNA damage. Based on these results, WEE1 inhibition has great potential together with other G2/M arresting or DNA damaging (chemo) therapeutic compounds and should be further explored in clinical trials.
Does self-initiated sit-to-stand training with an assistive device regain the independence of sit-to-stand in stroke patient? A single-blinded randomized controlled trial
Authors: Joey Ng Chee Man , Ho Marc Woo Ka 
Published: January 2020

Background It is unknown whether self-initiated sit-to-stand training with an assistive device is effective to regain the independence of sit-to-stand in stroke survivors. Objective To compare the effectiveness of self-initiated sit-to-stand training with an assistive device with manual sit-to-stand training. Design Parallel randomized controlled, assessor-blinded trial between January 2015 and May 2018. Randomization was performed by drawing lots to allocate treatment groups. Setting A rehabilitation hospital in Hong Kong. Participants 69 participants in medical wards with unilateral hemiparetic stroke. A total of 52 participants fulfilled the study requirements. Intervention Ten sessions of intervention with conventional physiotherapy program followed, by self-initiated sit-to-stand training with an assistive device, or by manual sit-to-stand training. Main outcome measure Number of participants regained the independence of sit-to-stand, sit-to-stand test from the Balance master® and Five-repetition sit-to-stand test. Results 69 participants (intervention, n = 36; control, n = 33) were randomized (mean age, 69.8 years (SD: 10.6), mean post-stroke days 18.6 (SD: 16.0)). Seventeen participants had not completed 10 sessions of training, leaving 52 ( n = 26; n = 26) participants for per protocol analysis. Eighteen participants in the intervention group and 10 participants in the control group had regained the independence of sit-to-stand (Phi and Cramer’s V: –0.31 and 0.31). The participants in the intervention group were faster to complete the Five-repetition sit-to-stand test than the control group (32.7 sec (SD: 1.93) versus 48.4 sec (SD, 6.8); 95% confidence interval, –30.8 to –0.7; p < 0.05). No adverse side effects occurred during and after the training across groups. Conclusions Self-initiated sit-to-stand training with an assistive device may have positive effects on speeding up regaining the independence of sit-to-stand on sub-acute stroke survivors.
Correlation of retinal changes with choroidal changes in acute and recurrent central serous chorioretinopathy assessed by swept-source optical coherence tomography
Authors: Jaisankar Durgasri , Kumar Meenakshi , Rishi Pukhraj , Singh Sumeer , Raman Rajiv 
Published: January 2020

Purpose: To evaluate affected choroidal regions and corresponding retinal changes in acute and recurrent central serous chorioretinopathy using swept-source optical coherence tomography. Methods: The foveal and subfoveal choroidal thicknesses were measured with swept-source optical coherence tomography. The retina was divided into five zones on the swept-source optical coherence tomography image based on baseline choroidal thickness being <100, 100–199, 200–299, 300–399 and ⩾400 μm. The retinal and choroidal thicknesses in the same five regions were evaluated during follow-up. The measurements were then compared between baseline (when central serous chorioretinopathy was active) and follow-up (after complete resolution of disease). Results: At baseline, in the acute group, the mean outer retinal layer thickness was significantly higher in areas with thicker choroid and lower in areas with thinner choroid. No such change was noticed in the recurrent group. In the acute group, the overall retinal thickness from baseline to follow-up decreased from 269.84 to 251.9 µm, ganglion cell layer thickness decreased from 107.14 to 101.28 µm, retinal nerve fibre layer thickness decreased from 56.96 to 49.33 µm, and no significant difference was noted in choroidal thickness. In the recurrent group, choroidal thickness significantly increased from 254.58 to 262.55 µm and ganglion cell layer decreased from 103.43 to 94.01 µm. No significant difference was noted in overall retina and retinal nerve fibre layer. Reduction in choroidal and retinal layer thicknesses was better in eyes which underwent laser treatment than the observation group. Conclusion: Swept-source optical coherence tomography might serve as an important non-invasive tool for both evaluating the extent of pathology and to predict the recurrence rate.
The complete mitochondrial genome of Taxus cuspidata (Taxaceae): eight protein-coding genes have transferred to the nuclear genome
Authors: Kan Sheng-Long , Shen Ting-Ting , Gong Ping , Ran Jin-Hua , Wang Xiao-Quan 
Published: January 2020

Abstract
Background
Gymnosperms represent five of the six lineages of seed plants. However, most sequenced plant mitochondrial genomes (mitogenomes) have been generated for angiosperms, whereas mitogenomic sequences have been generated for only six gymnosperms. In particular, complete mitogenomes are available for all major seed plant lineages except Conifer II (non-Pinaceae conifers or Cupressophyta), an important lineage including six families, which impedes a comprehensive understanding of the mitogenomic diversity and evolution in gymnosperms.

Results
Here, we report the complete mitogenome of Taxus cuspidata in Conifer II. In comparison with previously released gymnosperm mitogenomes, we found that the mitogenomes of Taxus and Welwitschia have lost many genes individually, whereas all genes were identified in the mitogenomes of Cycas, Ginkgo and Pinaceae. Multiple tRNA genes and introns also have been lost in some lineages of gymnosperms, similar to the pattern observed in angiosperms. In general, gene clusters could be less conserved in gymnosperms than in angiosperms. Moreover, fewer RNA editing sites were identified in the Taxus and Welwitschia mitogenomes than in other mitogenomes, which could be correlated with fewer introns and frequent gene losses in these two species.

Conclusions
We have sequenced the Taxus cuspidata mitogenome, and compared it with mitogenomes from the other four gymnosperm lineages. The results revealed the diversity in size, structure, gene and intron contents, foreign sequences, and mutation rates of gymnosperm mitogenomes, which are different from angiosperm mitogenomes.
Differential basal expression of immune genes confers Crassostrea gigas resistance to Pacific oyster mortality syndrome
Authors: de Lorgeril Julien , Petton Bruno , Lucasson Aude , Perez Valérie , Stenger Pierre-Louis , Dégremont Lionel , Montagnani Caroline , Escoubas Jean-Michel , Haffner Philippe , Allienne Jean-François , Leroy Marc , Lagarde Franck , Vidal-Dupiol Jérémie , Gueguen Yannick , Mitta Guillaume 
Published: January 2020

Abstract
Background
As a major threat to the oyster industry, Pacific Oyster Mortality Syndrome (POMS) is a polymicrobial disease affecting the main oyster species farmed across the world. POMS affects oyster juveniles and became panzootic this last decade, but POMS resistance in some oyster genotypes has emerged. While we know some genetic loci associated with resistance, the underlying mechanisms remained uncharacterized. So, we developed a comparative transcriptomic approach using basal gene expression profiles between different oyster biparental families with contrasted phenotypes when confronted to POMS (resistant or susceptible).

Results
We showed that POMS resistant oysters show differential expression of genes involved in stress responses, protein modifications, maintenance of DNA integrity and repair, and immune and antiviral pathways. We found similarities and clear differences among different molecular pathways in the different resistant families. These results suggest that the resistance process is polygenic and partially varies according to the oyster genotype.

Conclusions
We found differences in basal expression levels of genes related to TLR-NFκB, JAK-STAT and STING-RLR pathways. These differences could explain the best antiviral response, as well as the robustness of resistant oysters when confronted to POMS. As some of these genes represent valuable candidates for selective breeding, we propose future studies should further examine their function.
Comprehensive profiling of alternative splicing landscape during cold acclimation in tea plant
Authors: Li Yeyun , Mi Xiaozeng , Zhao Shiqi , Zhu Junyan , Guo Rui , Xia Xiaobo , Liu Lu , Liu Shengrui , Wei Chaoling 
Published: January 2020

Abstract
Background
Alternative splicing (AS) may generate multiple mRNA splicing isoforms from a single mRNA precursor using different splicing sites, leading to enhanced diversity of transcripts and proteins. AS has been implicated in cold acclimation by affecting gene expression in various ways, yet little information is known about how AS influences cold responses in tea plant (Camellia sinensis).

Results
In this study, the AS transcriptional landscape was characterized in the tea plant genome using high-throughput RNA-seq during cold acclimation. We found that more than 41% (14,103) of genes underwent AS events. We summarize the possible existence of 11 types of AS events, including the four common types of intron retention (IR), exon skipping (ES), alternative 5′ splice site (A5SS), and alternative 3′ splice site (A3SS); of these, IR was the major type in all samples. The number of AS events increased rapidly during cold treatment, but decreased significantly following de-acclimation (DA). It is notable that the number of differential AS genes gradually increased during cold acclimation, and these genes were enriched in pathways relating to oxidoreductase activity and sugar metabolism during acclimation and de-acclimation. Remarkably, the AS isoforms of bHLH transcription factors showed higher expression levels than their full-length ones during cold acclimation. Interestingly, the expression pattern of some AS transcripts of raffinose and sucrose synthase genes were significantly correlated with sugar contents.

Conclusion
Our findings demonstrated that changes in AS numbers and transcript expression may contribute to rapid changes in gene expression and metabolite profile during cold acclimation, suggesting that AS events play an important regulatory role in response to cold acclimation in tea plant.
Transcriptome analysis reveals key genes involved in the regulation of nicotine biosynthesis at early time points after topping in tobacco (Nicotiana tabacum L.)
Authors: Qin Yan , Bai Shenglong , Li Wenzheng , Sun Ting , Galbraith David W. , Yang Zefeng , Zhou Yun , Sun Guiling , Wang Bingwu 
Published: January 2020

Abstract
Background
Nicotiana tabacum is an important economic crop. Topping, a common agricultural practice employed with flue-cured tobacco, is designed to increase leaf nicotine contents by increasing nicotine biosynthesis in roots. Many genes are found to be differentially expressed in response to topping, particularly genes involved in nicotine biosynthesis, but comprehensive analyses of early transcriptional responses induced by topping are not yet available. To develop a detailed understanding of the mechanisms regulating nicotine biosynthesis after topping, we have sequenced the transcriptomes of Nicotiana tabacum roots at seven time points following topping.

Results
Differential expression analysis revealed that 4830 genes responded to topping across all time points. Amongst these, nine gene families involved in nicotine biosynthesis and two gene families involved in nicotine transport showed significant changes during the immediate 24 h period following topping. No obvious preference to the parental species was detected in the differentially expressed genes (DEGs). Significant changes in transcript levels of nine genes involved in nicotine biosynthesis and phytohormone signal transduction were validated by qRT-PCR assays. 549 genes encoding transcription factors (TFs), found to exhibit significant changes in gene expression after topping, formed 15 clusters based on similarities of their transcript level time-course profiles. 336 DEGs involved in phytohormone signal transduction, including genes functionally related to the phytohormones jasmonic acid, abscisic acid, auxin, ethylene, and gibberellin, were identified at the earliest time point after topping.

Conclusions
Our research provides the first detailed analysis of the early transcriptional responses to topping in N. tabacum, and identifies excellent candidates for further detailed studies concerning the regulation of nicotine biosynthesis in tobacco roots.
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family
Authors: Chen Jia , Yuan Huizhen , Xie Kang , Wang Xinrong , Tan Linglong , Zou Yongyi , Yang Yan , Pan Lu , Xiao Junfang , Chen Ge , Liu Yanqiu 
Published: January 2020

Abstract
Background
TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of TAB2 causes CHD. To date, seven variants within TAB2 were reported associated with CHD, only two of them are nonsense mutations.

Case presentation
Here we describe a three-generation Chinese family that included five CHD patients with heart valvular defects, such as mitral or tricuspid valves prolapse or regurgitation, and aortic valve stenosis or regurgitation. Our proband was a pregnant woman presenting with mitral, tricuspid, and aortic defects; her first child experienced sudden cardiac death at the age of 2 years. Whole-exome sequencing of the proband revealed a novel nonsense variant in TAB2 (c.C446G, p.S149X), which results in the elimination of the majority of C-terminal amino acids of TAB2, including the critical TAK1-binding domain. The variant was identified in five affected patients but not in the eight unaffected family members using Sanger sequencing and was classified as “pathogenic” according to the latest recommendation on sequence variants laid out by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Conclusion
We described a family with CHD caused by a novel TAB2 nonsense mutation. Our study broadens the mutation spectrum of TAB2; to the best of our knowledge, this is the first report of a pathogenic mutation within TAB2 in a Chinese population.
Decreased frontal white-matter diffusion and improved cognitive flexibility after burr-hole surgery in moyamoya angiopathy
Authors: Calviere Lionel , Loubiere Paul , Planton Melanie , Cazzola Vanessa , Catalaa Isabelle , Mirabel Helene , Sol Jean Christophe , Bonneville Fabrice 
Published: January 2020

Abstract
Background
In Moyamoya Angioplasty (MMA), increased apparent diffusion coefficient (ADC) in frontal white matter (WM) with a normal appearance has been associated with frontal hypoperfusion and executive dysfunction. Multiple burr-hole surgery enables the revascularization of large frontal areas.
Goal: To assess the effect of multiple burr-hole surgery on the ADC and cognitive functions in adults with MMA.

Methods
ADC was measured in 26 brain hemispheres of 14 consecutive adults with MMA (9 women, mean age ± SD: 38.1 ± 10.7 years) prior to and 6 months after burr-hole surgery. ADC was obtained from regions of interest located in frontal and posterior (temporo-occipital) normal-appearing WM. Ten patients had neuropsychological assessment that focused on executive and attentional functions before and after surgery.

Results
Anterior and posterior ADC values did not differ before surgery (815.8 ± 60.1 vs. 812.1 ± 35.3 mm2/s, p = 0.88). After surgery, frontal ADC was lower than prior to surgery (789.9 ± 64.5 vs. 815.8 ± 60.1 mm2/s; p <0.001) whereas no change occurred in posterior ADC (p = 0.31). Trail-making test part B median z-score increased from − 1.47 to − 0.21 (p = 0.018), suggesting improved cognitive flexibility.

Conclusion
In adults with MMA, indirect revascularization with burr-hole is followed by a decrease of ADC in normal-appearing frontal WM and may have improved some executive functions in the flexibility process. Change in ADC may reflect the improvement in cerebral perfusion after surgery. The measuring of ADC may be a promising tool in exploring potentially reversible microstructural WM damage related to hypoperfusion and cognitive change in MMA.
Identifying risk factors for perinatal death at Tororo District Hospital, Uganda: a case-control study
Authors: Tesfalul Martha A. , Natureeba Paul , Day Nathan , Thomas Ochar , Gaw Stephanie L. 
Published: January 2020

Abstract
Background
Sub-Saharan Africa faces a disproportionate burden of perinatal deaths globally. However, data to inform targeted interventions on an institutional level is lacking, especially in rural settings. The objective of this study is to identify risk factors for perinatal death at a resource-limited hospital in Uganda.

Methods
This is a retrospective case-control study at a district hospital in eastern Uganda using birth registry data. Cases were admissions with stillbirths at or beyond 24 weeks or neonatal deaths within 28 days of birth. Controls were admissions that resulted in deliveries immediately preceding and following each case. We compared demographic and obstetric factors between cases and controls to identify risk factors for perinatal death. Subgroup analysis of type of perinatal death was also performed. Chi square, Fisher’s exact, t-test, and Wilcoxon-Mann-Whitney rank sum tests were utilized for bivariate analysis, and multiple logistic regression for multivariate analysis.

Results
From January 2014 to December 2014, there were 185 cases of perinatal death, of which 36% (n = 69) were macerated stillbirths, 40% (n = 76) were fresh stillbirths, and 25% (n = 47) were neonatal deaths. The rate of perinatal death among all deliveries at the institution was 35.5 per 1000 deliveries. Factors associated with increased odds perinatal death included: prematurity (adjusted odds ratio (aOR) 19.7, 95% confidence interval (CI) 7.2–49.2), breech presentation (aOR 7.0, CI 1.4–35.5), multiple gestation (aOR 4.0, CI 1.1–13.9), cesarean delivery (aOR 3.8, CI 2.3–6.4) and low birth weight (aOR 2.5, CI 1.1–5.3). Analysis by subtype of perinatal death revealed distinct associations with the aforementioned risk factors, in particular for antepartum hemorrhage, which was only associated with fresh stillbirths (aOR 6.7, CI 1.6–28.8), and low birth weight.

Conclusions
The rate of perinatal death at our rural hospital site was higher than national targets, and these deaths were associated with prematurity, low birth weight, breech presentation, multiple gestation, and cesarean delivery. This data and the approach utilized to acquire it can be leveraged to inform targeted interventions to reduce the rate of stillbirths and neonatal deaths in similar low resource settings.