bluuebunny/crossref_metadata_2025 huggingface dataset:
Ability of 3- to 5-year-old children to use simplified self-report measures of pain intensity
Authors: Jaaniste Tiina , Burgess Ashleigh , Mohanachandran Mathushinee , von Baeyer Carl L , Champion G David
Published: August 2020

Little is known about self-report pain intensity scales best suited for young children. We tested the ability of preschool children to use two simplified scales (concrete ordinal and faces). Three- to 5-year-olds ( n = 123) were asked to make binary discriminations (‘less’ vs ‘more’ pain) between response options using the Simplified Faces Pain Scale and Simplified Concrete Ordinal Scale and to complete a seriation task. Eighty participants were also asked to use the Simplified Concrete Ordinal Scale, with modified verbal anchors, to rate the loudness of tones and to assess practice effects. Binary discrimination accuracy and seriation ability improved with age. When using the Simplified Concrete Ordinal Scale to rate the loudness of tones, even the 3-year-olds performed significantly better than chance, and performance was better in 4- and 5-year-olds. Little evidence supported the ability of 3-year-olds to use either of the simplified tools in the pain context. The 4-year-olds demonstrated greater accuracy in using the Simplified Concrete Ordinal Scale than the Simplified Faces Pain Scale, suggesting that the Simplified Concrete Ordinal Scale may be more appropriate for this age group.
Orienting child- and family-centered care toward equity
Authors: Gerlach Alison , Varcoe Colleen
Published: August 2020

Child- and family-centered care (CFCC) is being increasingly adopted internationally as a fundamental philosophical approach to the design, delivery, and evaluation of children’s services in diverse primary and acute health care contexts. CFCC has yet to be explored in the context of families and children whose health and health care is likely to be compromised by multifaceted social and structural factors, including racialization, material deprivation, and historically entrenched power imbalances. To date, an equity orientation for CFCC has not been examined or developed. This is a critical area of inquiry, given the increasing evidence that children in families who face such inequities have poor health outcomes. This article examines dominant discourses on CFCC in the context of families and children who are at greater risk of health inequities in wealthy countries, drawing on Canada as a useful example. It outlines an evidence-based approach to equity-oriented care that the authors contend has the potential to orient CFCC toward equity and provide greater clarity in the conceptualization, implementation, measurement, and evaluation of CFCC in ways that can benefit all families and children including those who have typically been excluded from research.
The potential of heat release rate and cylinder pressure feedback control for conventional and premixed charge compression ignition combustion
Authors: Hänggi Severin , Moretto Giordano , Albin Thivaharan , Onder Christopher
Published: August 2020

Cylinder pressure or heat release rate tracking algorithms for direct-injected compression ignition engines allow to account for various disturbances, such as changes in the fuel characteristics or the effects of engine wear. They are suited for flex-fuel engines and allow the use of multi-injection strategies; hence, they show potential for mobile applications. However, they are based on the assumption that the heat release rate or cylinder pressure correlates well with engine efficiency and emissions and therefore allows a clean and efficient engine operation. With the objective to evaluate the potential of such tracking algorithms, this assumption is investigated for conventional as well as for low-temperature combustion strategies with diesel as fuel of choice. Based on experimental data, exploratory data analysis methods are applied to evaluate how sensitive engine efficiency and emissions are to changes of the heat release rate or cylinder pressure. Furthermore, an extended tracking algorithm is proposed, which can be applied for premixed charge compression ignition combustion concepts.
A failed attempt to radically reduce inter-court sentencing disparities by legislation: Empirical evidence from Poland
Authors: Mamak Kamil , Dudek Joanna , Koniewski Maciej , Kwiatkowski Daniel
Published: August 2020

Sentencing disparities are widely covered in the literature on common law countries. In comparison, the literature on sentencing disparities in civil law countries is less extensive, and the literature is even more scarce in post-communist countries. Nevertheless, sentencing disparities exist in all of these countries. One of the goals of the 2015 criminal law reform in Poland was to limit sentencing disparities. This study compares trial outcomes from before and after the reform. We examine files from district courts in 13 cities in Poland for two offences: drug possession and drunk driving. Our findings demonstrate that there are significant differences in sentencing across courts, even in courts that are situated in the same city. The reform has changed the structure of the punishments but has not radically reduced sentencing disparities.
Understanding Who Stays in a STEM Scholar Program for Underrepresented Students: High-Achieving Scholars and Short-Term Program Retention
Authors: Oseguera Leticia , Rios Javiera De Los , Park Hyun Ju , Aparicio Elyzza M. , Rao Sridevi
Published: August 2020

This study highlights program retention among Science, Technology, Engineering, and Mathematics (STEM) students in a STEM Intervention Program (SIP) aimed at increasing the representation of underrepresented students in STEM fields. We applied London et al.’s STEM Engagement Framework to determine factors that distinguish who stays in a SIP and who leaves within the first two years of the program. Our sample was comprised of 129 high-achieving students enrolled in a multicomponent program at a large, research-intensive university in the mid-Atlantic. Our results suggest that identifying as a woman or gender non-conforming scholar, having a strong scientific identity, or reporting lower depressive symptoms, increase the likelihood of remaining in the SIP.
International Development of the Alzheimer’s Patient Partners Life Impact Questionnaire (APPLIQue)
Authors: McKenna Stephen P. , Rouse Matthew , Heaney Alice , Hagell Peter
Published: August 2020

Aim:

Informal caregivers play a vital role in the care of people with Alzheimer’s Disease (AD), yet caregiving is associated with caregivers’ burden. The initial objective of the study was to develop a new outcome measure to assess quality of life (QoL) in AD caregivers.

Methods:

Informal (non-professional) caregivers providing 75% or more of the care activities for, and living in the same household as, a person with AD were invited to take part in the study. Qualitative interviews (N = 40) were conducted with AD caregivers in the UK and thematic analyses were applied to generate a pool of potential items. A draft questionnaire was produced and adapted for use in Italy, Spain, Germany and the US. In each of the 5 countries, cognitive debriefing interviews (N = 76) were conducted to determine the questionnaire’s face and content validity, followed by a postal validation survey (N = 268). The data from these surveys were combined to reduce the number of items and assess the new questionnaire’s psychometric properties.

Results:

Thematic analysis of the UK interview transcripts generated a draft questionnaire, which was successfully translated into each additional language. The items were well accepted and easy to complete. However, reanalysis of the qualitative interview data revealed that spousal and non-spousal caregivers identified different experiences of caregiving. A review of the item pool indicated that items were primarily targeted at spousal caregivers. Therefore, further analyses of the postal survey data included spousal caregivers only (n = 116). The results supported scaling assumptions (e.g., corrected item-total correlations ≥0.32), targeting (e.g., floor/ceiling effects <2.5%), internal consistency (α ≥0.93) and test-retest reliability (rs = 0.88) of the new questionnaire, according to classical test theory. Assessment of external construct validity yielded results in accordance with a priori expectations. QoL scores were most strongly related to scores on the emotional reactions sections of the Nottingham Health Profile and the General Well-Being Index. The new questionnaire was found to be capable of detecting meaningful differences between respondents; spousal caregivers had worse QoL when the person with AD was confused (p < .001), could not be left alone (p < .001), did not recognize the caregiver (p < .001), was incontinent (p < .05), and wandered around the house (p = .01).

Conclusions:

The Alzheimer’s Disease Patient Partners Life Impact Questionnaire (APPLIQue) is a questionnaire specific to spousal caregivers of people with AD. Data support its scaling assumptions and it exhibits excellent psychometric properties according to classical test theory. The questionnaire is recommended for use in intervention studies where the QoL of spousal caregivers is of interest.
Magnetic Resonance Imaging Findings After Elbow Dislocation: A Descriptive Study
Authors: Demino Cory , Fowler John R.
Published: August 2020

Background

The elbow is one of the most commonly dislocated joints, and dislocation is usually accompanied with an assortment of soft tissue injuries. The purpose of this study was to retrospectively analyze and describe the patterns of ligamentous, tendinous, and muscular injuries in patients with an acute elbow dislocation and subsequent magnetic resonance image (MRI) evaluation.

Methods

From 2008 to 2020, 235 patients clinically diagnosed with an elbow dislocation were seen in the department, of which only 19 underwent an MRI of the affected elbow. Twelve patients met inclusion criteria, and MRIs were evaluated by both a radiologist and an upper extremity orthopedic surgeon. Magnetic resonance images were assessed for injury to the ulnar collateral ligament (UCL); radial collateral ligament (RCL); lateral ulnar collateral ligament (LUCL); common flexor and extensor tendons; biceps, brachialis, and triceps tendons; fracture; and joint effusion.

Results

Magnetic resonance imaging findings included the following: UCL was injured in 11 of 12 patients; RCL was injured in 9 of 12 patients; LUCL was injured in 9 of 12 patients; common flexor tendon was injured in 11 of 12 patients; and common extensor tendon was injured in 9 of 12 elbows. The biceps, brachialis, and triceps tendons showed injury in 1 of 12, 2 of 12, and 2 of 12 elbows, respectively. Four elbows had at least 1 fracture present, whereas 8 demonstrated an effusion.

Conclusions

In this series, injuries to the UCL and common flexor tendon were most common. Although ligamentous injuries are exceedingly common in elbow dislocations, large studies of MRI findings prove difficult due to MRI costs.
“Value-adding” Analysis: Doing More With Qualitative Data
Authors: Eakin Joan M. , Gladstone Brenda
Published: August 2020

Much qualitative research produces little new knowledge. We argue that this is largely due to deficits of analysis. Researchers too seldom venture beyond cataloguing data into pre-existing concepts and scouting for “themes,” and fail to exploit the distinctive powers of insight of qualitative methodology. The paper introduces a “value-adding” approach to qualitative analysis that aims to extend and enrich researchers’ analytic interpretive practices and enhance the worth of the knowledge generated. We outline key features of this form of analysis, including how it is constituted by principles of interpretation, contextualization, criticality, and the “creative presence” of the researcher. Using concrete examples from our own research, we describe some analytic “devices” that can free up and stretch a researcher’s analytic capacities, including putting reflexivity to work, treating everything as data, reading data for what is invisible, anomalous and “gestalt,” engaging in “generative” coding, deploying heuristics for theorizing, and recognizing writing as a key analytic activity. We argue that at its core, value-adding analysis is a scientific craft rather than a scientific formula, a creative assemblage of reality rather than a procedural determination of it. The researcher is the primary generative and synthesizing mechanism for transforming empirically observed data into the key products of qualitative research—concepts, accounts and explanations. The ultimate value of value-adding analysis resides in its ability to generate new knowledge, including not just the “discovery” of things heretofore unknown but also the re-conceptualization of what is already known, and, importantly, the reframing and reconstitution of the research problem.
The past, the present, and the foreseeable future of Russian manufacturing subsidiaries of Western multinational corporations
Authors: Gurkov Igor , Saidov Zokirzhon
Published: August 2020

This article retraces the development of Russian manufacturing subsidiaries of Western multinational corporations from the late 1980s until 2019. Using secondary sources and a unique handcrafted database on significant extensions of manufacturing facilities of Western multinational corporations in Russia during 2012–2018, we present the position of Russian manufacturing subsidiaries of Western multinational corporations before and after the beginning of sanctions. We also indicate the major strategic challenges that they currently face, including the necessity to maintain dual loyalty (to home country and host country authorities), manage the deteriorating quality of business regulations in Russia, and overcome the increasing shortage of qualified personnel at all levels. The data on the opening of new facilities in 2017–2018 reveal that such issues impede but cannot stop the quantitative development of foreign-owned Russian manufacturing facilities. At the same time, saving on managerial expenses and low “investments in non-current assets” of the established manufacturing subsidiaries may break down “the innovation engine” assembled in many Russian manufacturing subsidiaries of Western multinational corporations and bring them into the periphery of their corporate parents, where the attention and resources from the corporate center are lacking.
Mesenchymal stem cells for cartilage regeneration
Authors: Le Hanxiang , Xu Weiguo , Zhuang Xiuli , Chang Fei , Wang Yinan , Ding Jianxun
Published: August 2020

Cartilage injuries are typically caused by trauma, chronic overload, and autoimmune diseases. Owing to the avascular structure and low metabolic activities of chondrocytes, cartilage generally does not self-repair following an injury. Currently, clinical interventions for cartilage injuries include chondrocyte implantation, microfracture, and osteochondral transplantation. However, rather than restoring cartilage integrity, these methods only postpone further cartilage deterioration. Stem cell therapies, especially mesenchymal stem cell (MSCs) therapies, were found to be a feasible strategy in the treatment of cartilage injuries. MSCs can easily be isolated from mesenchymal tissue and be differentiated into chondrocytes with the support of chondrogenic factors or scaffolds to repair damaged cartilage tissue. In this review, we highlighted the full success of cartilage repair using MSCs, or MSCs in combination with chondrogenic factors and scaffolds, and predicted their pros and cons for prospective translation to clinical practice.
Primary prevention of cardiovascular disease: Updated review of contemporary guidance and literature
Authors: Stewart Jack , Addy Katherine , Campbell Sarah , Wilkinson Peter
Published: August 2020

Cardiovascular disease remains a substantial concern in terms of global mortality and morbidity, while prevalence of cardiovascular disease is increasing as treatment modalities improve survival. With an ageing population and increasing costs of chronic medical care, primary prevention of cardiovascular disease is an important target for healthcare providers. Since the previous iteration of this paper, new international guidelines have been produced regarding hypertension and lipid lowering therapies, whilst there is a growing body of evidence and new therapies emerging in other areas of lifestyle and pharmacotherapeutic intervention. This review outlines emerging evidence in the field and compares and contrasts contemporary recommendations from European and American guidelines.
Supplementary medication in multiple sclerosis: Real-world experience and potential interference with neurofilament light chain measurement
Authors: Pape Katrin , Steffen Falk , Zipp Frauke , Bittner Stefan
Published: August 2020

Background

As vitamins and dietary supplements are obtainable without prescription, treating physicians often ignore their intake by patients with multiple sclerosis (MS) and may therefore miss potential adverse effects and interactions.

Objective

We aimed to assess the spectrum and intake frequency of supplementary medication in a cohort of MS patients and to analyse the effect of biotin intake on measurement of serum neurofilament light chain (sNfL), an emerging marker of disease activity.

Methods

MS patients visiting our neurology outpatient clinic completed a questionnaire on their past or present use of vitamins or dietary supplements. In addition, the impact of two different doses of biotin (10 and 300 mg/day) on sNfL was studied in healthy volunteers.

Results

Of 186 patients, 72.6% reported taking over-the-counter vitamins or dietary supplements currently or previously. Most frequently used was vitamin D (60.0%), followed by biotin. Female patients and patients with primary progressive MS tended to use supplements more frequently. Biotin intake did not interfere with sNfL measurement by single molecule array (Simoa).

Conclusions

The use of vitamins and dietary supplements is frequent among patients with MS. Thus, treating physicians should be aware of the pitfalls of supplementary treatment and educate their patients accordingly.
Prominent Eustachian Valve and Atrial Septal Defect Presenting With Chronic Hypoxemia in a Teenager
Authors: Kernizan Daphney , Kharouf Rami , Robinson Bradley , Radtke Wolfgang
Published: August 2020

Prominent Eustachian valves, with obligate right-to-left shunts, have been reported as a cause of neonatal hypoxemia. This anomaly can present as an obstructive structure that inhibits antegrade flow through the tricuspid valve and furthermore contributes to right-to-left atrial shunting in the presence of a patent foramen ovale or atrial septal defect. This case highlights the evaluation and diagnostic workup for chronic hypoxemia in an adolescent female patient and considerations for percutaneous atrial septal defect closure.
Concomitant Aortic Root Replacement With Anterior Konno Annular Enlargement
Authors: Kogon Brian E.
Published: August 2020

The need for concomitant aortic annular enlargement and aortic root replacement may be necessary in situations of multilevel left ventricular outflow tract obstruction and/or prior aortic or aortic valve surgery, particularly in the setting of congenital heart disease. It can be extremely tedious and fraught with numerous complications. Major challenges include bleeding in difficult-to-reach areas and the potential need for subsequent operations. This article describes a technique of concomitant aortic annular enlargement and aortic root replacement that minimizes the risk of significant blood loss and facilitates future surgery should it be necessary.
Outcome at 26 Years After Repair of Fallot’s Tetralogy With Absent Left Pulmonary Artery
Authors: Stefanelli Guglielmo , Meli Marco , Nardelli Rosaria , Chiurlia Emilio , Weltert Luca
Published: August 2020

We report long-term outcome after two-stage, “one lung repair” in a four-year-old boy with tetralogy of Fallot and congenital absence of the left pulmonary artery. The operation was carried out two years after a palliative aortopulmonary central shunt and was uneventful. Twenty-six years later, the patient is in excellent clinical condition, with normal peripheral oxygen saturation. A recent radionuclide lung scan and cardiac magnetic resonance imaging show the pulmonary flow entirely directed into the right lung. In selected cases, the long-term prognosis of patients with tetralogy of Fallot and true absence of left pulmonary artery after “one lung repair” may be excellent.
Pulmonary Autograft Coronary-Cameral Fistula Leading to LVOT Pseudoaneurysm Post Ross Procedure
Authors: Jabagi Habib , Gardin Letizia , Maharajh Gyaandeo
Published: August 2020

We report the case of a presumed coronary-cameral fistula arising directly below the commissures of the noncoronary cusp (NCC) and left coronary cusp (LCC) of the pulmonary autograft, leading to left ventricular outflow tract pseudoaneurysm and late tamponade post Ross procedure.
Introduction to Special Issue Financial and life instability: Obstacles to and opportunities for emerging adult development and future well-being
Authors: Lanz Margherita , Serido Joyce
Published: August 2020

Current global economic instability has exacerbated the challenges of contemporary emerging adulthood and increased the urgency of examining financial instability as a life condition during this life stage. For this special issue, we assembled eight papers from different countries to examine how emerging adults are navigating financial instability. In the current introduction to the special issue, we identified the main themes that emerged from the collected studies: the role of family, emerging adults’ financial self-agency, financial disruptions and wellbeing, and the processes linking financial factors and positive development. Overall, these studies demonstrate that while the overall processes linking finances and development may be similar in different nations, the specificity of each context highlights the need to consider the important role of cultural norms and attitudes. We conclude this introduction, suggesting future research paths and implications for educators and practitioners that provide financial educators programs.
Preoperative optimization to prevent periprosthetic joint infection in at-risk patients
Authors: Chan Vincent WK , Chan PK , Fu H , Cheung MH , Cheung A , Yan CH , Chiu KY
Published: August 2020

Periprosthetic joint infection (PJI) remains an important complication with devastating consequences after total joint arthroplasties. With the increasing number of arthroplasties worldwide, the number of PJI will increase correspondingly with a significant economic burden to our healthcare system. It is likely impossible to completely eradicate PJI; hence, assessment and optimization of its risk factors to preventing such a disastrous complication will be the key. There are many strategies to prevent PJI in the preoperative, intraoperative, or postoperative phases. The preoperative assessment provides a unique opportunity to screen and diagnose underlying comorbidities and optimize modifiable risk factors before elective surgeries. In this review, we will focus on current literature in preoperative assessment of various modifiable risk factors and share the experience and practical approach in our institution in preoperative optimization to reduce PJI in total joint arthroplasties.
Determining Patient Readiness to Share Their Healthcare Stories: A Tool for Prospective Patient Storytellers to Determine Their Readiness to Discuss Their Healthcare Experiences
Authors: Ashdown Lynn C , Maniate Jerry M
Published: August 2020

Patient stories can serve as educational tools for healthcare providers. Inherent risks to the patients sharing their medical stories do exist. Despite the positive impact that patient storytelling can have in healthcare delivery, it is important to ensure the safety of those patients who chose to share their medical experiences. A novel questionnaire was developed by a diverse group of healthcare and patient partner experts. This questionnaire would serve as a self-reflective tool that prospective storytellers would complete in order to assess their readiness to proceed with storytelling as an educational tool. This draft questionnaire was then distributed to the 10 prospective patient storytellers registered to complete our pilot workshop on preparing the patient stories where they were asked to provide feedback. Overall, feedback was positive, and minor alterations were made to the questionnaire, resulting in the novel creation of this readiness assessment tool.
Virtual Reality and Symptoms Management of Anxiety, Depression, Fatigue, and Pain: A Systematic Review
Authors: Ioannou Androniki , Papastavrou Evridiki , Avraamides Marios N. , Charalambous Andreas
Published: August 2020

In recent years, virtual reality (VR) has become an interesting alternative to traditional exposure-based therapies for many symptoms. VR involves immersion in a computer-generated virtual environment that minimizes avoidance and facilitates emotional processing. The objective of this systematic review is to evaluate evidence on the intervention effect of VR on anxiety, depression, fatigue, and pain. The research strategy of this systematic review included three electronic databases (MEDLINE/PubMed, Cochrane Library, and ScienceDirect) based on predetermined inclusion and exclusion criteria. Published quantitative studies from 2000 to 2020 were identified, which examined the effect of VR intervention on four different symptoms related to symptoms experienced by cancer patients. Quality assessments, data extractions, and analysis were completed on all included studies. A total of 882 titles and abstracts were screened, and 23 studies were included in the review. The studies were grouped according to the symptoms: anxiety and depression, fatigue, and pain. The review showed that VR intervention is more effective compared with the control (i.e., standard care) for anxiety, depression, fatigue, and pain. VR can reduce effectively these symptoms in different contexts and diseases, including cancer. The evidence suggests that there is value in exploring this intervention as a potential crossover treatment for these symptoms in patients. This study contributes to evidence that distraction is an effective symptom management mechanism. The findings are congruent with the theoretical framework, supporting the premise that VR, as an emotion-focused distraction intervention, decreases the severity of these symptoms.
Medical Education Adaptations Post COVID-19: An Egyptian Reflection
Authors: Shehata Mohamed HK , Abouzeid Enjy , Wasfy Nourhan F , Abdelaziz Adel , Wells Ray L , Ahmed Samar A
Published: August 2020

Background:

Coronavirus (COVID19) appears to be an inflection point that is forcing a disruption in medical education.

Objective:

The study aims to explore how medical schools in Egypt responded to COVID-19 pandemic regarding teaching and learning/assessment for undergraduate students.

Design:

A mixed method exploratory 2-phase study was conducted. Data was collected through a questionnaire and focus groups.

Results:

The responses of the participants were categorized according to main themes; University preparedness, Role of faculty in the transition, Role of ME units/Departments/National/Regional bodies in the transition, Role of Egyptian Knowledge Bank, New teaching methods/strategies, New assessment methods/strategies and Projection into the future. The staff level of preparedness for that unexpected shift was evaluated as optimum to high and a good leadership support was reported by 70% of them. They reported conflicting views about the proper role of medical education units but reinforced the idea of Egyptian Knowledge Bank’s crucial role in this transition. Additionally, 64.1% of the participants identified a clinical skills teaching challenge and 76.3% of them reported absence of alternative methods for summative assessment. Finally, there is a communication problem with the students that leads to their detachment.

Conclusions:

Individuals moved faster than bodies and relied on support existing outside the universities when catastrophe happened. Many recommendations emerged including the need to integrate online learning into the curriculum at favorable percentages.
OCTA in neurodegenerative optic neuropathies: emerging biomarkers at the eye–brain interface
Authors: Asanad Samuel , Mohammed Isa , Sadun Alfredo A. , Saeedi Osamah J.
Published: August 2020

Optical coherence tomography angiography (OCTA) is an emerging technique for non-invasively imaging the ocular vasculature, enabling quantitative measurements of retinal vascular anatomy. As extensions of the central nervous system, the optic nerve and the retina share many vascular characteristics with the brain. Measuring the structural and functional changes within the ocular vasculature may be useful as an objective approach for non-invasively evaluating the cerebrovascular architecture. The current article reviews the most recent applications of OCTA imaging at the eye-brain interface and highlights the emerging vascular biomarkers for neurodegenerative optic neuropathies, as reported in Alzheimer’s disease, Parkinson’s disease, schizophrenia, and mitochondrial optic neuropathies. These ophthalmologic findings offer objective measures of a more accessible clinical marker and may improve our understanding of neurodegenerative disease.
The hematopoietic stem cell marker VNN2 is associated with chemoresistance in pediatric B-cell precursor ALL
Authors: Bornhauser Beat , Cario Gunnar , Rinaldi Anna , Risch Thomas , Rodriguez Martinez Virginia , Schütte Moritz , Warnatz Hans-Jörg , Scheidegger Nastassja , Mirkowska Paulina , Temperli Martina , Möller Claudia , Schumich Angela , Dworzak Michael , Attarbaschi Andishe , Brüggemann Monika , Ritgen Mathias , Mejstrikova Ester , Hofmann Andreas , Buldini Barbara , Scarparo Pamela , Basso Giuseppe , Maglia Oscar , Gaipa Giuseppe , Skroblyn Tessa Lara , Ngo Quy A. , te Kronnie Geertruij , Vendramini Elena , Panzer-Grümayer Renate , Barz Malwine Jeanette , Marovca Blerim , Hauri-Hohl Mathias , Niggli Felix , Eckert Cornelia , Schrappe Martin , Stanulla Martin , Zimmermann Martin , Wollscheid Bernd , Yaspo Marie-Laure , Bourquin Jean-Pierre
Published: August 2020

Most relapses of acute lymphoblastic leukemia (ALL) occur in patients with a medium risk (MR) for relapse on the Associazione Italiana di Ematologia e Oncologia Pediatrica and Berlin-Frankfurt-Münster (AIEOP-BFM) ALL protocol, based on persistence of minimal residual disease (MRD). New insights into biological features that are associated with MRD are needed. Here, we identify the glycosylphosphatidylinositol-anchored cell surface protein vanin-2 (VNN2; GPI-80) by charting the cell surface proteome of MRD very high-risk (HR) B-cell precursor (BCP) ALL using a chemoproteomics strategy. The correlation between VNN2 transcript and surface protein expression enabled a retrospective analysis (ALL-BFM 2000; N = 770 cases) using quantitative polymerase chain reaction to confirm the association of VNN2 with MRD and independent prediction of worse outcome. Using flow cytometry, we detected VNN2 expression in 2 waves, in human adult bone marrow stem and progenitor cells and in the mature myeloid compartment, in line with proposed roles for fetal hematopoietic stem cells and inflammation. Prospective validation by flow cytometry in the ongoing clinical trial (AIEOP-BFM 2009) identified 10% (103/1069) of VNN2+ BCP ALL patients at first diagnosis, primarily in the MRD MR (48/103, 47%) and HR (37/103, 36%) groups, across various cytogenetic subtypes. We also detected frequent mutations in epigenetic regulators in VNN2+ ALLs, including histone H3 methyltransferases MLL2, SETD2, and EZH2 and demethylase KDM6A. Inactivation of the VNN2 gene did not impair leukemia repopulation capacity in xenografts. Taken together, VNN2 marks a cellular state of increased resistance to chemotherapy that warrants further investigations. Therefore, this marker should be included in diagnostic flow cytometry panels.
A novel locus for exertional dyspnoea in childhood asthma
Authors: Lee Sanghun , Lasky-Su Jessica Ann , Lange Christoph , Kim Wonji , Kumar Preeti Lakshman , McDonald Merry-Lynn N. , Vaz Fragoso Carlos A. , Laurie Cecelia , Raby Benjamin A. , Celedón Juan C. , Cho Michael H. , Won Sungho , Weiss Scott T. , Hecker Julian
Published: August 2020

Most children diagnosed with asthma have respiratory symptoms such as cough, dyspnoea and wheezing, which are also important markers of overall respiratory function. A decade of genome-wide association studies (GWAS) have investigated genetic susceptibility to asthma itself, but few have focused on important respiratory symptoms that characterise childhood asthma.

Using whole-genome sequencing (WGS) data for 894 asthmatic trios from a Costa Rican cohort, we performed family-based association tests (FBATs) to assess the association between genetic variants and multiple asthma-relevant respiratory phenotypes: cough, phlegm, wheezing, exertional dyspnoea and exertional chest tightness. We tested whether genome-wide significant associations were replicated in two additional studies: 1) 286 asthmatic trios from the Childhood Asthma Management Program (CAMP), and 2) 2691 African American current or former smokers from the COPDGene study.

In the 894 Costa Rican trios, we identified a genome-wide significant association (p=2.16×10−9) between exertional dyspnoea and the single nucleotide polymorphism (SNP) rs10165869, located on chromosome 2q37.3, that was replicated in the CAMP cohort (p=0.023) with the same direction of association (combined p=3.28×10−10). This association was not found in the African American participants from COPDGene. We also found suggestive evidence for an association between SNP rs10165869 and the atypical chemokine receptor 3 (ACKR3).

Our finding encourages the secondary association analysis of a wider range of phenotypes that characterise respiratory symptoms in other airway diseases/studies.
Functional assessment and phenotypic heterogeneity ofSFTPA1andSFTPA2mutations in interstitial lung diseases and lung cancer
Authors: Legendre Marie , Butt Afifaa , Borie Raphaël , Debray Marie-Pierre , Bouvry Diane , Filhol-Blin Emilie , Desroziers Tifenn , Nau Valérie , Copin Bruno , Dastot-Le Moal Florence , Héry Mélanie , Duquesnoy Philippe , Allou Nathalie , Bergeron Anne , Bermudez Julien , Cazes Aurélie , Chene Anne-Laure , Cottin Vincent , Crestani Bruno , Dalphin Jean-Charles , Dombret Christine , Doray Bérénice , Dupin Clairelyne , Giraud Violaine , Gondouin Anne , Gouya Laurent , Israël-Biet Dominique , Kannengiesser Caroline , Le Borgne Aurélie , Leroy Sylvie , Longchampt Elisabeth , Lorillon Gwenaël , Nunes Hilario , Picard Clément , Reynaud-Gaubert Martine , Traclet Julie , de Vuyst Paul , Coulomb L'Hermine Aurore , Clement Annick , Amselem Serge , Nathan Nadia
Published: August 2020

Introduction

Interstitial lung diseases (ILDs) can be caused by mutations in theSFTPA1andSFTPA2genes, which encode the surfactant protein (SP) complex SP-A. Only 11SFTPA1orSFTPA2mutations have so far been reported worldwide, of which five have been functionally assessed. In the framework of ILD molecular diagnosis, we identified 14 independent patients with pathogenicSFTPA1orSFTPA2mutations. The present study aimed to functionally assess the 11 different mutations identified and to accurately describe the disease phenotype of the patients and their affected relatives.

Methods

The consequences of the 11SFTPA1orSFTPA2mutations were analysed bothin vitro, by studying the production and secretion of the corresponding mutated proteins andex vivo, by analysing SP-A expression in lung tissue samples. The associated disease phenotypes were documented.

Results

For the 11 identified mutations, protein production was preserved but secretion was abolished. The expression pattern of lung SP-A available in six patients was altered and the family history reported ILD and/or lung adenocarcinoma in 13 out of 14 families (93%). Among the 28SFTPA1 or SFTPA2mutation carriers, the mean age at ILD onset was 45 years (range 0.6–65 years) and 48% underwent lung transplantation (mean age 51 years). Seven carriers were asymptomatic.

Discussion

This study, which expands the molecular and clinical spectrum of SP-A disorders, shows that pathogenicSFTPA1orSFTPA2mutations share similar consequences for SP-A secretion in cell models and in lung tissue immunostaining, whereas they are associated with a highly variable phenotypic expression of disease, ranging from severe forms requiring lung transplantation to incomplete penetrance.
Preparation of Nickel-Cobalt/Carborundum Carbide Composite Coatings by Supergravity Field-Enhanced Electrodeposition
Authors: Hu Xiaoyun , Qu Ningsong
Published: August 2020

Nickel-cobalt/silicon carbide (Ni-Co/SiC) composite coatings were fabricated by supergravity field-enhanced electrodeposition. The surface morphology and the distribution of the SiC particles in the coatings were examined by scanning electron microscope and energy dispersive X-ray spectrometry. The preferred orientations of the coatings were measured by X-ray diffractometry. The wear resistance and microhardness were measured by a reciprocating tribometer and a microhardness instrument, respectively. The results revealed that the use of the supergravity field enhanced the smoothness of the as-deposited Ni-Co/SiC coatings, and the SiC nanoparticles were uniformly distributed in comparison with that for conventional electrodeposition. When the rotation speed of the cathode, which provided the supergravity field, was 800 r/min, the SiC content in the coating reached a maximum of 8.1 wt%, which was a much higher content than the 2.2 wt% value obtained under conventional electrodeposition. The highest coating microhardness of 680 HV was also observed at this rotation speed. In addition, the wear resistance of the as-prepared Ni-Co/SiC coatings exhibited improved performance relative to that prepared under normal gravity. A minimum wear weight loss of 1.4 mg together with an average friction coefficient of 0.13 were also realized at a rotation speed of 800 r/min, values which were much lower than those for normal gravity.
High-Efficiency Silicon Inverted Pyramid-Based Passivated Emitter and Rear Cells
Authors: Gao Kun , Liu Ying , Fan Yuan , Shi Linxing , Zhuang Yufeng , Cui Yanfeng , Yuan Shengzhao , Wan Yimao , Shen Wenzhong , Huang Zengguang
Published: August 2020

Surface texturing is one of the most important techniques for improving the performance of photovoltaic (PV) device. As an appealing front texture, inverted pyramid (IP) has attracted lots of research interests due to its superior antireflection effect and structural characteristics. In this paper, we prepare high-uniform silicon (Si) IPs structures on a commercial monocrystalline silicon wafer with a standard size of 156 × 156 mm2 employing the metal-assisted chemical etching (MACE) and alkali anisotropic etching technique. Combining the front IPs textures with the rear surface passivation of Al2O3/SiNx, we fabricate a novel Si IP-based passivated emitter and rear cell (PERC). Benefiting from the optical superiority of the optimized IPs and the improvement of electrical performance of the device, we achieve a high efficiency of 21.4% of the Si IP-based PERC, which is comparable with the average efficiency of the commercial PERC solar cells. The optimizing morphology of IP textures is the key to the improvement of the short circuit current Isc from 9.51 A to 9.63 A; meanwhile, simultaneous stack SiO2/SiNx passivation for the Si IP-based n+ emitter and stack Al2O3/SiNx passivation for rear surface guarantees a high open-circuit voltage Voc of 0.677 V. The achievement of this high-performance PV device demonstrates a competitive texturing technique and a promising prospect for the mass production of the Si IP-based PERC.
Transcriptomic and anatomic profiling reveal the germination process of different wheat varieties in response to waterlogging stress
Authors: Shen Changwei , Yuan Jingping , Qiao Hong , Wang Zijuan , Liu Yuanhai , Ren Xiujuan , Wang Fei , Liu Xing , Zhang Ying , Chen Xiling , Ou Xingqi
Published: August 2020

Background

Waterlogging is one of the most serious abiotic stresses affecting wheat-growing regions in China. Considerable differences in waterlogging tolerance have been found among different wheat varieties, and the mechanisms governing the waterlogging tolerance of wheat seeds during germination have not been elucidated.

Results

The results showed no significant difference between the germination rate of ‘Bainong 207’ (BN207) (after 72 h of waterlogging treatment) and that of the control seeds. However, the degree of emulsification and the degradation rate of endosperm cells under waterlogging stress were higher than those obtained with the control treatment, and the number of amyloplasts in the endosperm was significantly reduced by waterlogging. Transcriptomic data were obtained from seed samples (a total of 18 samples) of three wheat varieties, ‘Zhoumai 22’ (ZM22), BN207 and ‘Bainong 607’ (BN607), subjected to the waterlogging and control treatments. A comprehensive analysis identified a total of 2775 differentially expressed genes (DEGs). In addition, an analysis of the correlations among the expression difference levels of DEGs and the seed germination rates of the three wheat varieties under waterlogging stress revealed that the relative expression levels of 563 and 398 genes were positively and negatively correlated with the germination rate of the wheat seeds, respectively. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses showed that the difference in the waterlogging tolerance among the three wheat varieties was related to the abundance of key genes involved in the glycolysis pathway, the starch and sucrose metabolism pathway, and the lactose metabolism pathway. The alcohol dehydrogenase (ADH) gene in the endosperm of BN607 was induced immediately after short-term waterlogging, and the energy provided by the glycolysis pathway enabled the BN607 seeds to germinate as early as possible; in addition, the expression of the AP2/ERF transcription factor was upregulated to further enhance the waterlogging tolerance of this cultivar.

Conclusions

Taken together, the results of this study help elucidate the mechanisms through which different wheat varieties respond to waterlogging stress during germination.
Preliminary comparative analysis of the genomes of selected field reisolates of the Mycoplasma synoviae vaccine strain MS-H reveals both stable and unstable mutations after passage in vivo
Authors: Kordafshari Somayeh , Shil Pollob , Marenda Marc S. , Olaogun Olusola M. , Konsak-Ilievski Barbara , Disint Jillian , Noormohammadi Amir H.
Published: August 2020

Background

Genomic comparison of Mycoplasma synoviae vaccine strain MS-H and the MS-H parental strain 86,079/7NS established a preliminary profile of genes related to attenuation of MS-H. In this study we aimed to identify the stability of mutations found in MS-H after passage in experimental or field chickens, and to evaluate if any reverse mutation may be associated with changes in characteristics of MS-H in vitro or in vivo.

Results

Whole genome sequence analysis of 5 selected MS-H field reisolates revealed that out of 32 mutations reported previously in MS-H, 28 remained stable, while four found to be reversible to the wild-type. Each isolate possessed mutations in one to three of the genes obg, oppF1 and gap and/or a non-coding region. Examination of the 4 reversible mutations by protein modeling predicted that only two of them (in obg and oppF1 genes) could potentially restore the function of the respective protein to that of the wild-type.

Conclusions

These results suggest that the majority of the MS-H mutations are stable after passage in vaccinated chickens. Characterisation of stable mutations found in MS-H could be utilised to develop rapid diagnostic techniques for differentiation of vaccine from field strains or ts- MS-H reisolates.
Genome-wide association study identifies candidate genes related to oleic acid content in soybean seeds
Authors: Liu Xiaoyi , Qin Di , Piersanti Angela , Zhang Qi , Miceli Cristina , Wang Piwu
Published: August 2020

Background

Soybean oil is a complex mixture of five fatty acids (palmitic, stearic, oleic, linoleic, and linolenic). Soybean oil with a high oleic acid content is desirable because this monounsaturated fatty acid improves the oxidative stability of the oil. To investigate the genetic architecture of oleic acid in soybean seeds, 260 soybean germplasms from Northeast China were collected as natural populations. A genome-wide association study (GWAS) was conducted on a panel of 260 germplasm resources.

Results

Phenotypic identification results showed that the oleic acid content varied from 8.2 to 35.0%. A total of 2,311,337 single-nucleotide polymorphism (SNP) markers were obtained. GWAS analysis showed that there were many genes related to oleic acid content with a contribution rate of 7%. The candidate genes Glyma.11G229600.1 on chromosome 11 and Glyma.04G102900.1 on chromosome 4 were detected in a 2-year-long GWAS. The candidate gene Glyma.11G229600.1 showed a positive correlation with the oleic acid content, and the correlation coefficient was 0.980, while Glyma.04G102900.1 showed a negative correlation, with a coefficient of − 0.964.

Conclusions

Glyma.04G102900.1 on chromosome 4 and Glyma.11G229600.1 on chromosome 11 were detected in both analyses (2018 and 2019). Glyma.04G102900.1 and Glyma.11G229600.1 are new key candidate genes related to oleic acid in soybean seeds. These results will be useful for high-oleic soybean breeding.
Comparison of a home-based (multi) systemic intervention to promoting Medication AdheRence and Self-management among kidney transplant recipients with care-as-usual: the MARS randomized controlled trial protocol
Authors: Beck Denise Karin , Tielen Mirjam , Rechards Marloes , Timman Reinier , Boonstra Charlotte , Versteegh Josette , van de Wetering Jacqueline , Zietse Robert , van Gelder Teun , Weimar Willem , van Saase Jan , van Busschbach Jan , Massey Emma Kay
Published: August 2020

Background

After kidney transplantation non-adherence and inadequate self-management undermine clinical outcomes and quality of life. Both have been demonstrated to be substantial in all age groups. However, interventions promoting adherence and self-management among kidney transplant recipients that have proven to be effective are scarce. In this study we aim to develop and test an intervention to optimize adherence and self-management. In this article we describe the background and design of the trial entitled ‘promoting Medication AdheRence and Self-management among kidney transplant recipients’ (MARS-trial)’.

Methods/design

This is a single-center, parallel arm randomized controlled trial. Nonadherent kidney transplant recipients aged 12 years or older are eligible for inclusion. Patients will be randomly assigned to either the experimental or a control group. The control group will receive care-as-usual. The experimental group will receive care-as-usual plus the MARS-intervention. The MARS-intervention is an outreaching intervention, based on the principles of (multi) systemic therapy which means involving the social network. A standardized intervention protocol is used for consistency but we will tailor the behavior change techniques used to the specific needs and determinants of each patient. The primary outcome of medication adherence will be measured using electronic monitoring. Secondary outcome measures regarding medication adherence and self-management are also assessed. Data is collected at baseline (T0), after a run-in period (T1), at six months post-baseline/end of treatment (T2) and after a six month follow-up period (T3).

Discussion

We combined elements of (multi) systemic therapy and evidence-based behavior change techniques to create an outreaching and highly individualized intervention. In this trial we will investigate the impact on medication adherence and self-management after kidney transplantation.

Trial registration

Netherlands Trial Register,trial number NTR7462. Registered 7th September 2018, https://www.trialregister.nl/trial/7264