bluuebunny/crossref_metadata_2025_split huggingface dataset:
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
Authors: Trimouille Aurélien , Marguet Florent , Sauvestre Fanny , Lasseaux Eulalie , Pelluard Fanny , Martin-Négrier Marie-Laure , Plaisant Claudio , Rooryck Caroline , Lacombe Didier , Arveiler Benoît , Boespflug-Tanguy Odile , Naudion Sophie , Laquerrière Annie 
Published: April 2020

AbstractBi-allelic pathogenic variants in genes of the EIF2B family are responsible for Childhood Ataxia with Central nervous system Hypomyelination/Vanishing White Matter disease, a progressive neurodegenerative disorder of the central white matter. Only seven molecularly proven cases with antenatal onset have been reported so far. We report for the first time the neuropathological findings obtained from two foetuses harbouring deleterious variants in the EIF2B5 gene who presented in utero growth retardation and microcephaly with simplified gyral pattern that led to a medical termination of the pregnancy at 27 and 32 weeks of gestation. Neuropathological examination confirmed microcephaly with delayed gyration, periventricular pseudo-cysts and severe cerebellar hypoplasia. Histologically, the cerebellar cortex was immature, the dentate nuclei were fragmented and myelin stains revealed almost no myelination of the infratentorial structures. Bergmann glia was virtually absent associated to a drastic decreased number of mature astrocytes in the cerebellar white matter, multiple nestin-positive immature astrocytes as well as increased numbers of PDGRFα-positive oligodendrocyte precursors. Whole exome sequencing performed in the two foetuses and their parents allowed the identification of two EIF2B5 compound heterozygous variants in the two foetuses: c.468C > G p.Ile156Met and c.1165G > A p.Val389Met, the parents being heterozygous carriers. These variants are absent in the genome Aggregation Database (gnomAD r2.0.2). Contrary to the variant Ile156Met already described in a patient with CACH syndrome, the variant p.Val389Met is novel and predicted to be deleterious using several softwares. Neuropathological findings further expand the phenotypic spectrum of the disease that very likely occurs during early gestation and may manifest from the second half of pregnancy by a severe impairment of cerebral and cerebellar development.
Using an artificial life simulation to enhance reflective critical thinking among student teachers
Authors: Bunt Byron , Gouws Grantt 
Published: April 2020

AbstractThis paper presents a methodology for developing critical reflection among student teachers by using a novel artificial life simulation called Creatures. The paper is a report of an initial investigation that connects some theory to the affordances of a particular video game, and is a conceptual paper. In this paper, the various theories and concepts central to the methodology is outlined, and ultimately be combined and explored in depth. The game Creatures is also explored for its potential use as a reflective teaching tool. The actual methodology is then outlined for future research using this approach, ultimately concluding with tentative hypotheses regarding the significance of using artificial life for teacher education. Based on our combined experience in a higher education context lecturing education modules, student teachers do not critically reflect on their practice sufficiently and especially on the impact that their teaching will have on learners in the future. The Creatures simulation offers a viable solution to this problem, in which artificial creatures called Norns can be interacted with and taught important language and behavioral skills. In so doing, the student teachers who play the simulation may have a non-invasive manner in which to experience firsthand how their decisions may impact on future learning, and to reflect upon it using critical reflection.
Coincidence energy spectra due to the intrinsic radioactivity of LYSO scintillation crystals
Authors: Enríquez-Mier-y-Terán Francisco Eduardo , Ortega-Galindo Ana Saret , Murrieta-Rodríguez Tirso , Rodríguez-Villafuerte Mercedes , Martínez-Dávalos Arnulfo , Alva-Sánchez Héctor 
Published: April 2020

Abstract
Background
Lutetium oxyorthosilicate or lutetium yttrium oxyorthosilicate (LYSO) scintillation crystals used in most current PET scanner detectors contain 176Lu, which decays by beta emission to excited states of 176Hf accompanied by the emission of prompt gamma rays or internal conversion electrons. This intrinsic radioactivity can be self-detected in singles mode as a constant background signal that has an energy spectrum whose structure has been explained previously. In this work, we studied the energy spectrum due to the intrinsic radioactivity of LYSO scintillation crystals of two opposing detectors working in coincidence mode. The investigation included experimental data, Monte Carlo simulations and an analytical model.

Results
The structure of the energy spectrum was completely understood and is the result of the self-detection of beta particles from 176Lu in one crystal and the detection of one or more prompt gamma rays detected in coincidence by the opposing crystal. The most probable coincidence detection involves the gamma rays of 202 and 307 keV, which result in two narrow photopeaks, superimposed on a continuous energy distribution due to the beta particle energy deposition. The relative intensities of the gamma ray peaks depend on crystal size and detector separation distance, as is explained by the analytical model and verified through the Monte Carlo simulations and experiments.

Conclusions
The analytical model used in this work accurately explains the general features of the coincidence energy spectrum due to the presence of 176Lu in the scintillation crystals, as observed experimentally and with Monte Carlo simulations. This work will be useful to those research studies aimed at using the intrinsic radioactivity of LYSO crystals for transmission scans and detector calibration in coincidence mode.
Functional and genomic characterization of three novel cell lines derived from a metastatic gallbladder cancer tumor
Authors: García Patricia , Bizama Carolina , Rosa Lorena , Espinoza Jaime A. , Weber Helga , Cerda-Infante Javier , Sánchez Marianela , Montecinos Viviana P. , Lorenzo-Bermejo Justo , Boekstegers Felix , Dávila-López Marcela , Alfaro Francisca , Leiva-Acevedo Claudia , Parra Zasha , Romero Diego , Kato Sumie , Leal Pamela , Lagos Marcela , Roa Juan Carlos 
Published: April 2020

Abstract
Background
Gallbladder cancer (GBC) is the most common tumor of the biliary tract. The incidence of GBC shows a large geographic variability, being particularly frequent in Native American populations. In Chile, GBC represents the second cause of cancer-related death among women. We describe here the establishment of three novel cell lines derived from the ascitic fluid of a Chilean GBC patient, who presented 46% European, 36% Mapuche, 12% Aymara and 6% African ancestry.

Results
After immunocytochemical staining of the primary cell culture, we isolated and comprehensively characterized three independent clones (PUC-GBC1, PUC-GBC2 and PUC-GBC3) by short tandem repeat DNA profiling and RNA sequencing as well as karyotype, doubling time, chemosensitivity, in vitro migration capability and in vivo tumorigenicity assay. Primary culture cells showed high expression of CK7, CK19, CA 19-9, MUC1 and MUC16, and negative expression of mesothelial markers. The three isolated clones displayed an epithelial phenotype and an abnormal structure and number of chromosomes. RNA sequencing confirmed the increased expression of cytokeratin and mucin genes, and also of TP53 and ERBB2 with some differences among the three cells lines, and revealed a novel exonic mutation in NF1. The PUC-GBC3 clone was the most aggressive according to histopathological features and the tumorigenic capacity in NSG mice.

Conclusions
The first cell lines established from a Chilean GBC patient represent a new model for studying GBC in patients of Native American descent.
The prevalence of anxiety symptoms in infertile women: a systematic review and meta-analysis
Authors: Kiani Zahra , Simbar Masoumeh , Hajian Sepideh , Zayeri Farid , Shahidi Maryam , Saei Ghare Naz Marzieh , Ghasemi Vida 
Published: April 2020

Abstract
Background
Infertile women are exposed more frequently to anxiety risk than are infertile men, thereby adversely affecting the procedures with which they are treated and the quality of their lives. Yet, this problem is often disregarded. This study accordingly determined the prevalence of anxiety symptoms among infertile women.

Methods
All Persian and English studies published from the early 2000s to May 2019 were searched in international (i.e., PubMed, the Cochrane Library, Web of Science, Scopus, Embase, and PsycINFO) and national (i.e., SID, Magiran) databases as well as through Google Scholar. After the titles and abstracts of the articles were reviewed, their quality was evaluated, and relevant works for examination were selected in consideration of established inclusion and exclusion criteria. The risk of biases of individual studies according to Newcastle - Ottawa Scale was assessed. The heterogeneity of the studies was assessed using the I2 statistic, and indicators of publication bias were ascertained using Egger’s test. Stata (version 14) was employed in analyzing the findings.

Results
Thirteen studies having a collective sample size of 5055 infertile women were subjected to meta-analysis, with study heterogeneity incorporated into a random effects model. The findings indicated that 36% of the infertile women involved in the evaluated studies self-reported their experience with anxiety. The pooled prevalence of the condition among the subjects was 36.17% [95% confidence interval (CI): 22.47–49.87]. The pooled prevalence levels in low- and middle-income countries and high-income countries were 54.24% (95% CI: 31.86–78.62) and 25.05% (95% CI: 15.76–34.34), respectively. The results revealed no evidence of publication bias (P Egger’s test = 0.406).

Conclusion
Considering the prevalence of anxiety in infertile women and its effects on health processes and quality of life, this problem requires serious consideration and planning for effective intervention, especially in low- and middle-income nations.
Orthotopic heart transplantation with reconstruction of persistent left superior vena cava
Authors: Handa Kazuma , Hata Hiroki , Toda Koichi , Miyagawa Shigeru , Yoshikawa Yasushi , Yoshioka Daisuke , Sawa Yoshiki 
Published: April 2020

Abstract
Background
Persistent left superior vena cava is a not uncommon congenital vascular abnormality. We report a case of heart transplantation with reconstruction of persistent left superior vena cava using a prosthetic vascular graft.

Case presentation
A 20-year-old man with idiopathic dilated cardiomyopathy and persistent left superior vena cava underwent orthotopic heart transplantation 2 years and 3 months after left ventricular assist device implantation. Because the persistent left superior vena cava had a larger diameter than the right superior vena cava, the transected persistent left superior vena cava was reconstructed with a prosthetic vascular graft anastomosed to the free wall of the right atrium. Postoperative enhanced computed tomography revealed good patency of the graft. The patient’s postoperative course has been uneventful during 2 years of follow-up, despite the risk of complications.

Conclusions
Reconstruction of a persistent left superior vena cava with a prosthetic vascular graft may be one option at the time of heart transplantation.
Undernutrition among Ethiopian adults living with HIV: a meta-analysis
Authors: Alebel Animut , Kibret Getiye Dejenu , Petrucka Pammla , Tesema Cheru , Moges Nurilign Abebe , Wagnew Fasil , Asmare Getnet , Kumera Gemechu , Bitew Zebenay Workneh , Ketema Daniel Bekele , Tiruneh Tesfahun , Melkamu Mamaru Wubale , Hibstie Yitbarek Tenaw , Temesgen Belisty , Eshetie Setegn 
Published: April 2020

AbstractBackgroundMalnutrition and human immunodeficiency virus (HIV) are interlaced in a vicious cycle and worsened in low and middle-income countries. In Ethiopia, even though individuals are dually affected by both malnutrition and HIV, there is no a nationwide study showing the proportion of malnutrition among HIV-positive adults. Consequently, this review addressed the pooled burden of undernutrition among HIV-positive adults in Ethiopia.MethodsWe searched for potentially relevant studies through manual and electronic searches. An electronic search was carried out using the database of PubMed, Google Scholar, and Google for gray literature and reference lists of previous studies. A standardized data extraction checklist was used to extract the data from each original study. STATA Version 13 statistical software was used for our analysis. Descriptive summaries were presented in tables, and the quantitative result was presented in a forest plot. Heterogeneity within the included studies was examined using the Cochrane Q test statistics andI2test. Finally, a random-effects meta-analysis model was computed to estimate the pooled proportion of undernutrition among HIV-positive adults.ResultsAfter reviewing 418 studies, 15 studies met the inclusion criteria and were included in the meta-analysis. Findings from 15 studies revealed that the pooled percentage of undernutrition among HIV-positive adults in Ethiopia was 26% (95% CI: 22, 30%). The highest percentage of undernutrition (46.8%) was reported from Jimma University specialized hospital, whereas the lowest proportion of undernutrition (12.3%) was reported from Dilla Hospital. The subgroup analyses of this study also indicated that the percentage of undernourishment among HIV-positive adults is slightly higher in the Northern and Central parts of Ethiopia (27.5%) as compared to the Southern parts of Ethiopia (25%).ConclusionThis study noted that undernutrition among HIV-positive adults in Ethiopia was quite common. This study also revealed that undernutrition is more common among HIV-positive adults with advanced disease stage, anemia, diarrhea, CD4 count less than 200 cells/mm3, and living in rural areas. Based on our findings, we suggested that all HIV-positive adults should be assessed for nutritional status at the time of ART commencement.
Hemorrhagic complications associated with suprachoroidal buckling
Authors: Antaki Fares , Dirani Ali , Ciongoli Marina Ravagnani , Steel David H. W. , Rezende Flavio 
Published: April 2020

Abstract
Background
Multiple surgical techniques exist for the repair of rhegmatogenous retinal detachments (RRD). Suprachoroidal buckling (SCB), consisting of injecting viscoelastic material in the suprachoroidal space to allow chorioretinal apposition, has been recently described in the repair of RRD. The aim of this study is to report the complications of SCB and to propose measures to decrease their incidence during the learning curve.

Methods
A total of 26 eyes of 26 patients who underwent a SCB procedure for the management of RRD secondary to a single or multiple retinal breaks were enrolled. Patients were operated between January 2014 and March 2017 at two academic institutions. Patient and retinal detachment characteristics were obtained from the charts. Surgical videos were reviewed for every case and intraoperative complications were recorded. Complications observed postoperatively were obtained from the charts.

Results
Sixteen eyes (62%) underwent SCB alone, 5 eyes (19%) underwent additional gas tamponade and 5 eyes (19%) had combined pars plana vitrectomy. The most common complication was hemorrhage (6 cases, 23%). There were no cases of ischemic choroidal changes or hyperpigmentation at the edge of the dome. All six complications occurred in phakic patients who had inferior RRD with retinal breaks in the inferior quadrants. Isolated subretinal hemorrhage occurred in 4 patients and isolated suprachoroidal hemorrhage in 1 patient, and those did not affect final visual outcome. Extensive combined subretinal and suprachoroidal hemorrhage occurred in one case, and was complicated by phthisis bulbi. Re-detachment occurred in 4/6 (67%) of patients, and 5/6 (83%) of patients required a secondary procedure. Three out of 6 patients (50%) had at least 2 lines of visual acuity improvement.

Conclusion
SCB performed for RRD can be associated with hemorrhagic complications. The hemorrhages are usually self-limited but may occasionally result in severe visual compromise when involving the suprachoroidal space. Specific surgical measures need to be undertaken in order to decrease the likelihood of complications and further studies are needed to assess the safety and efficacy of this technique.
Raising and stabilization phase of the sit-to-stand movement better discriminate healthy elderly adults from young subjects: a pilot cross-sectional study
Authors: Piano Leonardo , Geri Tommaso , Testa Marco 
Published: April 2020

Abstract
Background
The sit-to-stand (STS) test is usually included in the clinical assessment of balance and its instrumented analysis may support clinicians in objectively assessing the risk of falling. The aim of the present study was to assess if kinetic parameters of STS collected using a force platform, with particular focus on the raising and stabilization phase, could discriminate between young and older adults.

Methods
Twenty-four adults (age ranging from 18 to 65 years old) and 28 elderly adults (older than 65 years old) performed STS on a force platform. Data on ground reaction forces, sway, displacement and velocity of the center of pressure were gathered during the raising and the stabilization phases.

Results
elderly subjects showed significant greater global sway (146.97 vs 119.85; p < 0.05) and a higher velocity (vs 40.03 vs 34.35 mm/s; p < 0.05) of execution of STS. Between-group comparisons highlighted a greater postural sway in the raising phase (21.63 vs 13.58; p < 0.001) and a doubled sway during the stabilization phase (12.38 vs 4.98; p < 0.001).

Conclusions
The analysis of STS performed on a force platform provides further information about the age-specific pattern of STS execution. The stabilization phase of STS seems to be the more challenging for functional independent older adults and should be considered during balance assessment.
Further studies are needed to confirm findings and improve generalizability of this study.
The impact of intraperitoneal antibiotic administration in patients with peritoneal dialysis-related peritonitis: systematic review and meta-analysis
Authors:   on behalf of Working Group on Revision of Peritoneal Dialysis Guidelines, Morimoto Kohkichi , Terawaki Hiroyuki , Washida Naoki , Kasai Takahiro , Tsujimoto Yasushi , Yuasa Hidemichi , Ryuzaki Munekazu , Ito Yasuhiko , Tomo Masashi , Nakamoto Hidetomo 
Published: April 2020

Abstract
Background
Peritonitis is a common and clinically important complication in patients receiving peritoneal dialysis (PD). Antibiotic administration is essential for PD-related peritonitis, but routes of administration have not been established enough. Here, we performed a systematic review to assess the efficacy and safety of intraperitoneal (IP) antibiotic administration compared to intravenous (IV) antibiotic administration in patients with PD-related peritonitis.

Methods
Cochrane CENTRAL, MEDLINE, and Ichushi-Web were searched in June 2017. Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed, and articles were screened by four independent reviewers.

Results
Two randomized controlled trials (113 patients) were identified. IP antibiotic administration was more effective than IV antibiotic administration. The pooled risk difference between IP and IV was 0.13 (95% CI − 0.17 to 0.43). Safety assessment indicated less frequency of side effects in patients receiving IP antibiotic administration. The pooled risk ratios of IV to IP regarding adverse drug reaction-related and administration route-related side effects were 5.13 (0.63 to 41.59) and 3.00 (0.14 to 65.90), respectively.

Conclusion
The systematic review and meta-analysis suggested that IP antibiotic administration is more effective and safer in patients with PD-related peritonitis compared to IV antibiotic administration.
Does mobile instant messaging facilitate social presence in online communication? A two-stage study of higher education students
Authors: Tang Ying , Hew Khe Foon 
Published: April 2020

AbstractOnline social presence supports student learning by making group interactions more appealing and has become a central concept in computer-mediated communication. However, questions remain over how social presence is presented in a mobile instant messaging (MIM)-facilitated environment and to what extent MIM can afford social presence compared to a threaded discussion forum. This study offers a new contribution by examining the social presence levels afforded by a MIM app (WeChat) and comparing it with a threaded discussion forum. We present a two-stage study. In stage 1, we analyzed social presence levels in the MIM postings of class A with a validated instrument comprising three dimensions, namely, affective, interactive, and cohesive responses. In stage 2, we employed a historical cohort control experimental research study to compare social presence levels manifested in class A to those in class B who used an online forum. Follow-up interviews were conducted to solicit explanations of the differences in social presence levels. The results show that compared to the asynchronous threaded forum, the quasi-synchronous MIM is particularly suited to promoting (a) expression of emotions (affective social presence), (b) expressing agreement (interactive social presence), and (c) phatics and providing support (cohesive social presence). Four attributes might contribute to the differences including (a) the ease of use of non-verbal cues, (b) location-free digital interaction, (c) presence awareness, and (d) multimodality. The implications for future practices and research are discussed.
Would treatment decisions about secondary prevention of CVD based on estimated lifetime benefit rather than 10-year risk reduction be cost-effective?
Authors: Berkelmans Gijs F. N. , Greving Jacoba P. , van der Graaf Yolanda , Visseren Frank L. J. , Dorresteijn Jannick A. N. 
Published: April 2020

Abstract
Objective
To test the hypothesis that treatment decisions (treatment with a PCSK9-mAb versus no treatment) are both more effective and more cost-effective when based on estimated lifetime benefit than when based on estimated risk reduction over 10 years.

Methods
A microsimulation model was constructed for 10,000 patients with stable cardiovascular disease (CVD). Costs and quality-adjusted life years (QALYs) due to recurrent cardiovascular events and (non)vascular death were estimated for lifetime benefit-based compared to 10-year risk-based treatment, with PCSK9 inhibition as an illustration example. Lifetime benefit in months gained and 10-year absolute risk reduction were estimated using the SMART-REACH model, including an individualized treatment effect of PCSK9 inhibitors based on baseline low-density lipoprotein cholesterol. For the different numbers of patients treated (i.e. the 5%, 10%, and 20% of patients with the highest estimated benefit of both strategies), cost-effectiveness was assessed using the incremental cost-effectiveness ratio (ICER), indicating additional costs per QALY gain.

Results
Lifetime benefit-based treatment of 5%, 10%, and 20% of patients with the highest estimated benefit resulted in an ICER of €36,440/QALY, €39,650/QALY, or €41,426/QALY. Ten-year risk-based treatment decisions of 5%, 10%, and 20% of patients with the highest estimated risk reduction resulted in an ICER of €48,187/QALY, €53,368/QALY, or €52,390/QALY.

Conclusion
Treatment decisions (treatment with a PCSK9-mAb versus no treatment) are both more effective and more cost-effective when based on estimated lifetime benefit than when based on estimated risk reduction over 10 years