bluuebunny/crossref_metadata_2025_split huggingface dataset:
P1542 Reference values for multilayer longitudinal strain in children: preliminary findings from healthy individuals
Authors: Chinali M , De Roberto A M , Esposito C , Del Pasqua A , Iacomino M , Ciliberti P , Galderisi M , Rinelli G 
Published: January 2020

Abstract
BACKGROUND
Strain echocardiography is a reliable echocardiographic modality to measure myocardial mechanical deformation and evaluate regional and global myocardial systolic function, and has been demonstrated to be a useful tool for the evaluation of cardiac function in children with acquired and congenital heart diseases. Recent advancements in echocardiographic technology allow to analyze myocardial strain in multiple layers. To our knowledge, there are no published reference values for echocardiographic multilayer-specific strain measurement.
AIM OF THE STUDY
Aim of our study was to establish normal reference values for left ventricular (LV) and right ventricular (RV) longitudinal strain (LS) in a wide population of Italian children and to provide normal reference values of layer-specific LS in a healthy pediatric population.
METHODS AND RESULT
At present we have analyzed data from two-hundred (target: n = 500) healthy, consecutive subjects (age &lt;18 years, mean age 7.5 ± 4yrs; range from 1 month to 17,5 years). All subjects underwent a clinical cardiological evaluation including ECG and physical examination. Subsequently, a complete echo Doppler examination including LS evaluation using speckle-tracking echocardiography was performed. Individuals were excluded if any significant abnormality was found at echocardiography (e.g. valvular regurgitation more than trivial, any structural abnormalities including small ASDs or VSDs; patients with isolated PFO were included). Subendocardial, midwall, subepicardial LS, and strain gradient (LSsubepi - LSsubendo) were also determined. LS% analysis was considered acceptable if missing data were present in no more than one segment per echocardiographic view, according to current consensus. Echocardiographic yield for LS analysis was 98.5 % for 4-chamber views, 82.5% for 2-chamber views and 84.5% for 3-chamber views. Accordingly Global Longitudinal Strain (GLS) was available overall in 82% of the population analyzed so far (n= 164 children) on all layers, with a total of 8,872 echocardiographic available segments analyzed. Normal distribution was found for global subendocardial, midwall and subepicardial LS. As displayed in figure 1 (panels A-B-C), means ± SD were -20.8 ± 1.9% for LSsubendo, -19.2 ± 1.8% for LSsubepi and -19.9 ± 1.8% for LSmidwall. Accordingly higher value (95ile) for normal LS were -17.9%, -16.4% and -17.1% for LSsubepi, LSsubendo and LSmidwall, respectively. A significant subepicardial to subendocardial gradient was found in all children with higher absolute values found at the endocardial level, with a mean difference of 1.6 ± 0.9% (Panel D).
CONCLUSIONS
We provide preliminary data on 200 children to establish normal reference values for echocardiographic multilayer-specific strain measurement in a wide population of healthy italian children.
Abstract P1542 Figure.
P1550 Detection of symptom related coronary arteries in patients with coronary artery disease by 4D stress echo with adenosine triphosphate
Authors: Nelassov N , Morgunov M , Doltmurzieva N , Sidorov R , Arzumanjan E , Safonov D , Nechaeva A , Kreneva E , Eroshenko O 
Published: January 2020

Abstract

Background
In previous publications, we have proposed new algorithm of pharmacologic Stress Echo with possibility of stepwise adenosine triphosphate (ATP) i/v dose increase (Figure 1).

Purpose
In this study we decided to compare the effectiveness of detection of symptom related coronary arteries in patients with coronary artery disease (CAD) by ATP 4D Stress Echo of left ventricle (LV) and a) traditional visual evaluation of LV segmental hypokinesis b) Automatic Function Imaging (AFI) technology longitudinal LV strain (LS) analysis.
Material and methods. 26 patients with CAD (male 24, mean age 63.1 ± 7.5 years, single vessel obstructive disease 7, multivessel - 19) underwent ATP LV 4D Stress Echo (Vivid E95, GE). Number of cases when it was possible to detect symptom related arteries by visual analysis of LV segmental hypokinesis and by AFI LV LS analysis were compared.

Results
In 11 (42.3%) patients expansion of existing hypokinetic areas and appearance of new LV segments with hypokinesis during stress test were detected by visual analysis. Using AFI technology expansion of initial areas of LS disturbances and appearance of new LV segments with LS disturbances were found in 21 (80,7%) patients (р=0.0044).

Conclusion
Utilization of AFI LV LS analysis during ATP LV 4D Stress Echo significantly increases the frequency of symptom related coronary arteries detection in patients with CAD.
Abstract P1550 Figure1
P1577 Mitral regurgitant "splay": an important clue to severity of regurgitation
Authors: Wiener P C , Friend E , Bhargav R , Kadem L , Pressman G 
Published: January 2020

Abstract

Background
Visual assessment of mitral regurgitation (MR) severity by color Doppler can be difficult, especially in eccentric jets. Examination of the proximal flow acceleration signal (PISA) on the ventricular side of the mitral valve can be helpful but, is not always intuitive. We describe a color signal ("splay") on the atrial side of the valve that can often be helpful in recognizing significant MR.

Methods
Clinical echocardiograms were reviewed to obtain two data sets: 100 patients with reported mild MR and another 100 with reported severe MR. All echocardiograms were reviewed to confirm that MR was truly mild or severe. Splay was defined as a non-physiologic arc of color (figure) centered at the point where the MR jet emerges into the atrium.

Results
Splay was present in the large majority of severe MR cases (table). It was seen across 3 vendors’ machines and was present with normal and reduced EF as well as primary and secondary MR. Color scale and transducer frequency did not differ according to presence or absence of splay, but gain was higher when splay was present (57.5 ± 6.8 vs 55.2 ± 6.1, p = 0.04). In mild MR patients, splay was present on fewer frames and had lesser dimensions vs severe MR. Splay was particularly prevalent in patients with wall hugging jets (28/30, 93%).

Conclusions
The splay signal occurs as a side lobe artifact, at the point where a high energy MR jet emerges into the left atrium. Its presence often indicates significant MR and may be a useful clue in highly eccentric jets which are otherwise difficult to grade.
Table 1 Mild MR Severe MR P value Splay Present (%) 18 82 &lt;0.0001 No. of Frames 2 ± 1.6 3.6 ± 1.3 &lt;0.0001 Width of Splay (cm) 2.2 ± 0.5 3.2 ± 0.9 &lt;0.0001 Depth of Splay (cm) 0.36 ± 0.11 0.47 ± 0.16 0.01
Abstract P1577 Figure. Splay Image
Cardiomyopathy associated with Ceutzfeld–Jakob disease: a diagnosis of exclusion: a case report
Authors: Itzhaki Ben Zadok Osnat , Orvin Katia , Inbar Edna , Rechavia Eldad 
Published: January 2020

Abstract

Background
Creutzfeldt–Jakob disease (CJD), the most common prion disease in humans, is primarily known for its adverse neurological impact and inevitable mortality. Data regarding myocardial involvement in CJD are scarce.

Case summary
A 54-year-old female patient, presented with progressive effort dyspnoea, was diagnosed with unexplained non-ischaemic cardiomyopathy. An extensive cardiac work-up including cardiac magnetic resonance imaging (MRI) did not reveal any underlying aetiology. Simultaneously, the patient developed involuntary limb movements and progressive cognitive decline. Thalamic high-signal abnormalities on diffusion-weighted images were apparent on brain MRI. Based on these findings, she was subsequently referred to a neurology department, where she suddenly died the day after her admission. Brain autopsy demonstrated spongiform encephalopathy. A genetic analysis performed to her son revealed a mutation in the PRNP gene; all of these were consistent with CJD.

Discussion
This case describes the clinical association of CJD and cardiomyopathy and the diagnosis prion-induced cardiomyopathy by exclusion. It is not inconceivable that the coexistence of these two clinical entities may be related to genetic expression and contemporaneously deposition of infectious prions in myocardial muscle and brain tissue. Awareness of this possible association could be of important public-safety concern, and merits further collaborative cardiac-neurological work-up to elucidate this phenotype among patients with unexplained cardiomyopathy with neurological symptoms that resemble CJD.
Aetiology and outcomes of severe right ventricular dysfunction
Authors: Padang Ratnasari , Chandrashekar Nikhitha , Indrabhinduwat Manasawee , Scott Christopher G , Luis Sushil A , Chandrasekaran Krishnaswamy , Michelena Hector I , Nkomo Vuyisile T , Pislaru Sorin V , Pellikka Patricia A , Kane Garvan C 
Published: January 2020

Abstract

Aims
Right ventricular dysfunction (RVD) is an important determinant of functional status and survival in various diseases states. Data are sparse on the epidemiology and outcome of patients with severe RVD. This study examined the characteristics, aetiology, and survival of patients with severe RVD.

Methods and results
Retrospective study of consecutive patients with severe RVD diagnosed by transthoracic echocardiography (TTE) between 2011 and 2015 in a single tertiary referral institution. Patients with prior cardiac surgery, mechanical assist devices, and congenital heart disease were excluded. Primary endpoint was all-cause mortality. In 64 728 patients undergoing TTE, the prevalence of ≥mild RVD was 21%. This study focused on the cohort of 1299 (4%) patients with severe RVD; age 64 ± 16 years; 61% male. The most common causes of severe RVD were left-sided heart diseases (46%), pulmonary thromboembolic disease (18%), chronic lung disease/hypoxia (CLD; 17%), and pulmonary arterial hypertension (PAH; 11%). After 2 ± 2 years of follow-up, 701 deaths occurred, 66% within the first year of diagnosis. The overall probability of survival at 1- and 5 years for the entire cohort were 61% [95% confidence interval (CI) 58–64%] and 35% (95% CI 31–38%), respectively. In left-sided heart diseases, 1- and 5-year survival rates were 61% (95% CI 57–65%) and 33% (95% CI 28–37%), respectively; vs. 76% (95% CI 68–82%) and 50% (95% CI 40–59%) in PAH, vs. 71% (95% CI 64–76%) and 49% (95% CI 41–58%) in thromboembolic diseases, vs. 42% (95% CI 35–49%) and 8% (95% CI 4–15%) in CLD (log-rank P &lt; 0.0001). Presence of ≥moderate tricuspid regurgitation portended worse survival in severe RVD.

Conclusion
One-year mortality of patients with severe RVD was high (∼40%) and dependent on the aetiology of RVD. Left-sided heart diseases is the most common cause of severe RVD but prognosis was worst in CLD.
Molecular Evolution of the Glutathione S-Transferase Family in the Bemisia tabaci Species Complex
Authors: Aidlin Harari Ofer , Santos-Garcia Diego , Musseri Mirit , Moshitzky Pnina , Patel Mitulkumar , Visendi Paul , Seal Susan , Sertchook Rotem , Malka Osnat , Morin Shai 
Published: January 2020

AbstractThe glutathione S-transferase (GST) family plays an important role in the adaptation of herbivorous insects to new host plants and other environmental constrains. The family codes for enzymes that neutralize reactive oxygen species and phytotoxins through the conjugation of reduced glutathione. Here, we studied the molecular evolution of the GST family in Bemisia tabaci, a complex of &gt;35 sibling species, differing in their geographic and host ranges. We tested if some enzymes evolved different functionality, by comparing their sequences in six species, representing five of the six major genetic clades in the complex. Comparisons of the nonsynonymous to synonymous substitution ratios detected positive selection events in 11 codons of 5 cytosolic GSTs. Ten of them are located in the periphery of the GST dimer, suggesting a putative involvement in interactions with other proteins. Modeling the tertiary structure of orthologous enzymes, identified additional 19 mutations in 9 GSTs, likely affecting the enzymes’ functionality. Most of the mutation events were found in the environmentally responsive classes Delta and Sigma, indicating a slightly different delta/sigma tool box in each species. At a broader genomic perspective, our analyses indicated a significant expansion of the Delta GST class in B. tabaci and a general association between the diet breadth of hemipteran species and their total number of GST genes. We raise the possibility that at least some of the identified changes improve the fitness of the B. tabaci species carrying them, leading to their better adaptation to specific environments.
Can Green Algal Plastid Genome Size Be Explained by DNA Repair Mechanisms?
Authors: Smith David Roy 
Published: January 2020

Abstract
A major finding in organelle biology over the past decade is that land plant mitochondrial genomes, which are the largest among eukaryotes, can have a “Jekyll and Hyde” mutational pattern: low for synonymous sites, high for intergenic ones. This has led to the theory that double-strand breaks (DSBs) in the intergenic DNA of plant mitogenomes are repaired by inaccurate mechanisms, such as break-induced replication, which can result in large insertions and, thus, could explain why these genomes are so prone to expansion. But how universal is this theory? Can it apply to other giant organelle DNAs, such as the massive plastid DNAs (ptDNAs) of chlamydomonadalean green algae? Indeed, it can. Analysis of the expanded plastomes from two distinct isolates of the unicellular chlamydomonadalean Chlorosarcinopsis eremi uncovered exceptionally low rates of synonymous substitution in the coding regions but high substitution rates, including frequent indels, in the noncoding ptDNA, mirroring the trend from land plant mitogenomes. Remarkably, nearly all of the substitutions and indels identified in the noncoding ptDNA of C. eremi occur adjacent to or within short inverted palindromic repeats, suggesting that these elements are mutational hotspots. Building upon earlier studies, I propose that these palindromic repeats are predisposed to DSBs and that error-prone repair of these breaks is contributing to genomic expansion. Short palindromic repeats are a common theme among bloated plastomes, including the largest one on record, meaning that these data could have wide-reaching implications for our understanding of ptDNA expansion.
Surgical correction of coarctation of the aorta featuring an incomplete circle of Willis
Authors: Sonobe Aiko , Kato Hideyuki , Mathis Bryan J , Hiramatsu Yuji 
Published: January 2020

Abstract
Although devastating complications during simple coarctation of aorta repair now occur less frequently, some unique cases still require extra caution. Here, we report a case of coarctation of the aorta with a rare anomaly in the circle of Willis and an aberrant right subclavian artery, which required a thorough surgical strategy that prevented cerebral malperfusion.
Floating thrombus in the ascending aorta revealed by peripheral arterial embolism
Authors: Gueldich Majdi , Piscitelli Mariantonietta , Derbel Haytham , Boughanmi Khaoula , Bergoend Eric , Chanai Nora , Folliguet Thierry , Fiore Antonio 
Published: January 2020

Abstract
A floating thrombus in the ascending aorta is rarely found in clinical practice and is an uncommon cause of peripheral arterial embolization. When there is minimal atherosclerosis or a normal aorta, the management of such a lesion is poorly defined. Currently, there is no clear consensus concerning optimal treatment. Herein, we report 2 cases of ascending aortic thrombus that are complicated by a peripheral embolic event. Due to the risk of recurrent systemic embolism, particularly with strokes, surgical thrombectomy with ascending aortic wall replacements was performed. We believe that floating ascending aorta thrombus represents a serious source of systemic embolism and stroke. Surgical removal is easy to perform with good clinical outcomes. Conservative treatments such as anticoagulation or thromboaspiration may be considered in high-risk or inoperable patients.
Hospital adoption of multiple health information exchange approaches and information accessibility
Authors: Everson Jordan , Butler Evan 
Published: January 2020

Abstract

Objective
Hospital engagement in electronic health information exchange (HIE) has increased over recent years. We aimed to 1) determine the change in adoption of 3 types of information exchange: secure messaging, provider portals, and use of an HIE; and 2) to assess if growth in each approach corresponded to increased ability to access and integrate patient information from outside providers.

Methods
Panel analysis of all nonfederal, acute care hospitals in the United States using hospital- and year-fixed effects. The sample consisted of 1917 hospitals that responded to the American Hospital Association Information Technology Supplement every year from 2014 to 2016.

Results
Adoption of each approach increased by 9–15 percentage points over the study period. The average number of HIE approaches used by each hospital increased from 1.0 to 1.4. Adoption of each approach was associated with increased likelihood that providers routinely had necessary outside information of 4.2–12.7 percentage points and 4.5–13.3 percentage points increase in information integration. Secure messaging was associated with the largest increase in both. Adoption of 1 approach increased the likelihood of having outside information by 10.3 percentage points, while adopting a second approach further increased the likelihood by 9.5 percentage points. Trends in number of approaches and integration were similar.

Discussion/Conclusion
No single HIE tool provided high levels of usable, integrated health information. Instead, hospitals benefited from adopting multiple tools. Policy initiatives that reduce the complexity of enabling high value HIE could result in broader adoption of HIE and use of information to inform care.
Transposon-induced methylation of the RsMYB1 promoter disturbs anthocyanin accumulation in red-fleshed radish
Authors: Wang Qingbiao , Wang Yanping , Sun Honghe , Sun Liang , Zhang Li 
Published: January 2020

Abstract
Red-fleshed radish (Raphanus sativus L.) is a unique cultivar whose taproot is rich in anthocyanins beneficial to human health. However, the frequent occurrence of white-fleshed mutants affects the purity of commercially produced radish and the underlying mechanism has puzzled breeders for many years. In this study, we combined quantitative trait location by genome resequencing and transcriptome analyses to identify a candidate gene (RsMYB1) responsible for anthocyanin accumulation in red-fleshed radish. However, no sequence variation was found in the coding and regulatory regions of the RsMYB1 genes of red-fleshed (MTH01) and white-fleshed (JC01) lines, and a 7372 bp CACTA transposon in the RsMYB1 promoter region occurred in both lines. A subsequent analysis suggested that the white-fleshed mutant was the result of altered DNA methylation in the RsMYB1 promoter. This heritable epigenetic change was due to the hypermethylated CACTA transposon, which induced the spreading of DNA methylation to the promoter region of RsMYB1. Thus, RsMYB1 expression was considerably down-regulated, which inhibited anthocyanin biosynthesis in the white-fleshed mutant. An examination of transgenic radish calli and the results of a virus-induced gene silencing experiment confirmed that RsMYB1 is responsible for anthocyanin accumulation. Moreover, the mutant phenotype was partially eliminated by treatment with a demethylating agent. This study explains the molecular mechanism regulating the appearance of white-fleshed mutants of red-fleshed radish.
Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population
Authors: Yasumizu Yoshiaki , Sakaue Saori , Konuma Takahiro , Suzuki Ken , Matsuda Koichi , Murakami Yoshinori , Kubo Michiaki , Palamara Pier Francesco , Kamatani Yoichiro , Okada Yukinori 
Published: January 2020

AbstractElucidation of natural selection signatures and relationships with phenotype spectra is important to understand adaptive evolution of modern humans. Here, we conducted a genome-wide scan of selection signatures of the Japanese population by estimating locus-specific time to the most recent common ancestor using the ascertained sequentially Markovian coalescent (ASMC), from the biobank-based large-scale genome-wide association study data of 170,882 subjects. We identified 29 genetic loci with selection signatures satisfying the genome-wide significance. The signatures were most evident at the alcohol dehydrogenase (ADH) gene cluster locus at 4q23 (PASMC = 2.2 × 10−36), followed by relatively strong selection at the FAM96A (15q22), MYOF (10q23), 13q21, GRIA2 (4q32), and ASAP2 (2p25) loci (PASMC &lt; 1.0 × 10−10). The additional analysis interrogating extended haplotypes (integrated haplotype score) showed robust concordance of the detected signatures, contributing to fine-mapping of the genes, and provided allelic directional insights into selection pressure (e.g., positive selection for ADH1B-Arg48His and HLA-DPB1*04:01). The phenome-wide selection enrichment analysis with the trait-associated variants identified a variety of the modern human phenotypes involved in the adaptation of Japanese. We observed population-specific evidence of enrichment with the alcohol-related phenotypes, anthropometric and biochemical clinical measurements, and immune-related diseases, differently from the findings in Europeans using the UK Biobank resource. Our study demonstrated population-specific features of the selection signatures in Japanese, highlighting a value of the natural selection study using the nation-wide biobank-scale genome and phenotype data.
FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells
Authors: Hu Jia-Li , Liang He , Zhang Hong , Yang Ming-Zhu , Sun Wei , Zhang Peng , Luo Li , Feng Jian-Xiong , Bai Huajun , Liu Fang , Zhang Tianpeng , Yang Jin-Yu , Gao Qingsong , Long Yongkang , Ma Xiao-Yan , Chen Yang , Zhong Qian , Yu Bing , Liao Shuang , Wang Yongbo , Zhao Yong , Zeng Mu-Sheng , Cao Nan , Wang Jichang , Chen Wei , Yang Huang-Tian , Gao Song 
Published: January 2020

Abstract
Family with sequence similarity (FAM46) proteins are newly identified metazoan-specific poly(A) polymerases (PAPs). Although predicted as Gld-2-like eukaryotic non-canonical PAPs, the detailed architecture of FAM46 proteins is still unclear. Exact biological functions for most of FAM46 proteins also remain largely unknown. Here, we report the first crystal structure of a FAM46 protein, FAM46B. FAM46B is composed of a prominently larger N-terminal catalytic domain as compared to known eukaryotic PAPs, and a C-terminal helical domain. FAM46B resembles prokaryotic PAP/CCA-adding enzymes in overall folding as well as certain inter-domain connections, which distinguishes FAM46B from other eukaryotic non-canonical PAPs. Biochemical analysis reveals that FAM46B is an active PAP, and prefers adenosine-rich substrate RNAs. FAM46B is uniquely and highly expressed in human pre-implantation embryos and pluripotent stem cells, but sharply down-regulated following differentiation. FAM46B is localized to both cell nucleus and cytosol, and is indispensable for the viability of human embryonic stem cells. Knock-out of FAM46B is lethal. Knock-down of FAM46B induces apoptosis and restricts protein synthesis. The identification of the bacterial-like FAM46B, as a pluripotent stem cell-specific PAP involved in the maintenance of translational efficiency, provides important clues for further functional studies of this PAP in the early embryonic development of high eukaryotes.