bluuebunny/crossref_metadata_2025_split huggingface dataset:
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing
Authors: Mor-Shaked Hagar , Paz-Ebstein Emuna , Basal Adily , Ben-Haim Simona , Grobe Hanna , Heymann Sami , Israel Zvi , Namnah Montaser , Nitzan Anat , Rosenbluh Chaggai , Saada Ann , Tzur Tomer , Yanovsky-Dagan Shira , Zaidel-Bar Ronen , Harel Tamar , Arkadir David 
Published: September 2021

Abstract
Biallelic pathogenic variants in PRKN (PARK2), encoding the E3 ubiquitin ligase parkin, lead to early-onset Parkinson's disease. Structural variants, including duplications or deletions, are common in PRKN due to their location within the fragile site FRA6E. These variants are readily detectable by copy number variation analysis. We studied four siblings with levodopa-responsive dystonia by exome sequencing followed by genome sequencing. Affected individuals developed juvenile levodopa-responsive dystonia with subsequent appearance of parkinsonism and motor fluctuations that improved by subthalamic stimulation. Exome sequencing and copy number variation analysis were not diagnostic, yet revealed a shared homozygous block including PRKN. Genome sequencing revealed an inversion within PRKN, with intronic breakpoints flanking exon 5. Breakpoint junction analysis implicated non-homologous end joining and possibly replicative mechanisms as the repair pathways involved. Analysis of cDNA indicated skipping of exon 5 (84 bp) that was replaced by 93 bp of retained intronic sequence, preserving the reading frame yet altering a significant number of residues. Balanced copy number inversions in PRKN are associated with a severe phenotype. Such structural variants, undetected by exome analysis and by copy number variation analysis, should be considered in the relevant clinical setting. These findings raise the possibility that PRKN structural variants are more common than currently estimated.
Association between previous lung diseases and lung cancer risk: a systematic review and meta-analysis
Authors: Ang Lina , Ghosh Pratyusha , Seow Wei Jie 
Published: September 2021

Abstract
Previous lung diseases (PLD) are known risk factors for lung cancer. However, it remains unclear how the association varies by lung cancer subtype and socio-demographic characteristics. We conducted a systematic literature search in three electronic databases from the inception of each database up until 13 January 2021. A total of 73 studies (18 cohort and 55 case–control studies) consisting of 97 322 cases and 7 761 702 controls were included. Heterogeneity was assessed using the I2 statistic. Based on the heterogeneity, either the fixed-effects or random-effects model was used to estimate the pooled summary estimate (PSE) and 95% confidence interval (CI) for the association between PLD and lung cancer risk. A history of asthma, chronic bronchitis, emphysema, pneumonia, tuberculosis, and chronic obstructive pulmonary disease (COPD) was associated with higher lung cancer risk, with a history of COPD and emphysema having at least twofold relative risk. A history of hay fever was associated with lower lung cancer risk (PSE= 0.66, 95% CI= 0.54–0.81), particularly among ever-smokers (PSE= 0.55, 95% CI= 0.41–0.73). Individuals with a diagnosis of asthma, emphysema, or pneumonia within 1–10 years prior to lung cancer diagnosis were observed to have a higher lung cancer risk as compared to those who were diagnosed more than 10 years prior to lung cancer diagnosis. Ever-smokers with a history of COPD or emphysema were observed to have at least twofold relative risk of lung cancer compared to those without this history. Due to the observed association between PLD with higher risk of lung cancer, it is advisable that individuals with PLD should be closely monitored and prioritised for lung cancer screening.
Digital Discipline: Theorizing Concertive Control in Online Communities1
Authors: Gibbs Jennifer L , Rice Ronald E , Kirkwood Gavin L 
Published: September 2021

Abstract
Concertive control (CC) theory has primarily been applied to traditional offline, work-based, closed membership teams. New organizational forms such as online communities have opened up additional sites in which CC processes may operate. This article makes several contributions to CC theory and research. First, it increases the applicability of CC theory by extending it from offline to online, work to non-work, and closed to open membership contexts. Second, it increases our understanding of CC processes by elaborating on three mechanisms of CC (group autonomy, group identification, and generative discipline) and how they operate differently in online work/non-work and closed/open contexts. Third, it develops propositions about how these mechanisms interact with three prominent media affordances (visibility, persistence and editability) within those contexts. Extending CC theory to online communities helps to explain individuals’ responses to normative group pressures online, which is highly relevant in our increasingly culturally and politically polarized society.
Inter-glacial isolation caused divergence of cold-adapted species: the case of the snow partridge
Authors: Yao Hongyan , Zhang Yanan , Wang Zhen , Liu Gaoming , Ran Quan , Zhang Zhengwang , Guo Keji , Yang Ailin , Wang Nan , Wang Pengcheng 
Published: September 2021

Abstract
Deciphering the role of climatic oscillations in species divergence helps us understand the mechanisms that shape global biodiversity. The cold-adapted species may have expanded their distribution with the development of glaciers during glacial period. With the retreat of glaciers, these species were discontinuously distributed in the high-altitude mountains and isolated by geographical barriers. However, the study that focuses on the speciation process of cold-adapted species is scant. To fill this gap, we combined population genetic data and ecological niche models (ENMs) to explore divergence process of snow partridge (Lerwa lerwa). Lerwa lerwa is a cold-adapted bird that is distributed from 4,000 to 5,500 m. We found 2 genetic populations within L. lerwa, and they diverged from each other at about 0.40–0.44 million years ago (inter-glacial period after Zhongliangan glaciation). The ENMs suggested that L. lerwa expanded to the low elevations of the Himalayas and Hengduan mountains during glacial period, whereas it contracted to the high elevations, southern of Himalayas, and Hengduan mountains during inter-glacial periods. Effective population size trajectory also suggested that L. lerwa expanded its population size during the glacial period. Consistent with our expectation, the results support that inter-glacial isolation contributed to the divergence of cold-adapted L. lerwa on Qinghai-Tibetan Plateau. This study deepens our understanding of how climatic oscillations have driven divergence process of cold-adapted Phasianidae species distributed on mountains.
Facilitators and barriers for promoting healthy eating among primary care patients: results of a qualitative study among practice nurses
Authors: Groenendijk-van Woudenbergh Geertruida J , van Hell-Cromwijk Marlies C , van der Veen Ytje J J , Algra Hylkje F , Kroeze Willemieke 
Published: September 2021

Abstract

Background
Practice nurses have an important role in promoting healthy eating to prevent or delay long-term complications from chronic lifestyle-related diseases.

Objective
To identify the facilitators and barriers encountered by practice nurses at a professional level when promoting healthy eating among patients.

Methods
Face-to-face semi-structured interviews were conducted with 21 Dutch practice nurses. Data were recorded, transcribed and analysed using inductive thematic analysis.

Results
Two main themes were determined: professional characteristics and professional–patient encounter. Professional characteristics included good communication skills and experience facilitated the successful promotion of healthy eating, while a lack of communication skills and lack of knowledge about diet were perceived as barriers. The most frequently identified facilitators for professional–patient encounter included ensuring a personal connection with patients, creating food awareness, focussing on small changes, adopting a tailored approach, motivating and arranging extra consultations. Barriers included lack of skills to raise the topic, lack of persistence, inability to find a common understanding, lack of competence in handling patients’ own choices and underuse of existing educational materials.

Conclusions
Further research using the identified facilitators and barriers for promoting healthy eating in primary care patients with chronic diseases could assist in the development of future training programmes for practice nurses.
Genetic Variation in Frost Tolerance, Uromycladium acaciae Rust Resistance, and Growth in an Acacia mearnsii Population
Authors: Moreno Chan Julian , Isik Fikret 
Published: September 2021

Abstract
Genetic variation in frost tolerance, resistance to the rust fungus Uromycladium acaciae, growth, stem form, and gummosis were evaluated in 110 open-pollinated families of black wattle (Acacia mearnsii De Wild). Families were tested at six frost-prone sites in northern KwaZulu-Natal and southeastern Mpumalanga, South Africa. Frost-hardy provenances were susceptible to rust disease and had poor growth. Locally grown F1 seed sources that originated from cold-hardy Australian seed sources had better growth and were tolerant to rust, but at a cost of lower frost tolerance. Considerable genetic variation was observed between families within seed sources for frost damage (hfm2 = 0.77), rust incidence (hfm2 = 0.89), and height (hfm2 = 0.80). The corresponding narrow-sense heritabilities (hi2) were 0.30, 0.80, and 0.32. Genotype-by-environment interaction levels were low for most traits. Except for a strong genetic correlation between tree height and diameter (0.90), all the pairs of traits had weak to moderate genetic correlations. Recurrent selection will be successful in improving frost tolerance and rust incidence. However, the current population comprises limited germplasm that is both tolerant to frost and resistant to rust. Thus, we recommend infusing germplasm from known cold-hardy Australian provenances into the current population to increase genetic variation for frost tolerance, rust, and growth.
TheGossypium anomalumgenome as a resource for cotton improvement and evolutionary analysis of hybrid incompatibility
Authors: Grover Corrinne E , Yuan Daojun , Arick Mark A , Miller Emma R , Hu Guanjing , Peterson Daniel G , Wendel Jonathan F , Udall Joshua A 
Published: September 2021

AbstractCotton is an important crop that has been the beneficiary of multiple genome sequencing efforts, including diverse representatives of wild species for germplasm development. Gossypium anomalum is a wild African diploid species that harbors stress-resistance and fiber-related traits with potential application to modern breeding efforts. In addition, this species is a natural source of cytoplasmic male sterility and a resource for understanding hybrid lethality in the genus. Here, we report a high-quality de novo genome assembly for G. anomalum and characterize this genome relative to existing genome sequences in cotton. In addition, we use the synthetic allopolyploids 2(A2D1) and 2(A2D3) to discover regions in the G. anomalum genome potentially involved in hybrid lethality, a possibility enabled by introgression of regions homologous to the D3 (Gossypium davidsonii) lethality loci into the synthetic 2(A2D3) allopolyploid.
Seismic waves in medium with poroelastic/elastic interfaces: a two-dimensionalP-SVfinite-difference modelling
Authors: Gregor David , Moczo Peter , Kristek Jozef , Mesgouez Arnaud , Lefeuve-Mesgouez Gaëlle , Morency Christina , Diaz Julien , Kristekova Miriam 
Published: September 2021

SUMMARYWe present a new methodology of the finite-difference (FD) modelling of seismic wave propagation in a strongly heterogeneous medium composed of poroelastic (P) and (strictly) elastic (E) parts. The medium can include P/P, P/E and E/E material interfaces of arbitrary shapes. The poroelastic part can be with (i) zero resistive friction, (ii) non-zero constant resistive friction or (iii) JKD model of the frequency-dependent permeability and resistive friction. Our FD scheme is capable of subcell resolution: a material interface can have an arbitrary position in the spatial grid. The scheme keeps computational efficiency of the scheme for a smoothly and weakly heterogeneous medium (medium without material interfaces). Numerical tests against independent analytical, semi-analytical and spectral-element methods prove the efficiency and accuracy of our FD modelling. In numerical examples, we indicate effect of the P/E interfaces for the poroelastic medium with a constant resistive friction and medium with the JKD model of the frequency-dependent permeability and resistive friction. We address the 2-D P-SV problem. The approach can be readily extended to the 3-D problem.
The influence of neighbourhood equity on parkrunners in a British city
Authors: Haake Steve , Heller Ben , Schneider Paul , Smith Rob , Green Geoff 
Published: September 2021

Summary
Physical activity benefits both physical and mental health. Specific events may augment participation in physical activity at a population level. Parkrun is a popular, free, weekly, timed 5 km run or walk in public spaces located in five continents. However, these events may be distributed inequitably, possibly reinforcing inequities in health. As a prelude to a comprehensive analysis of a larger dataset, we explore a hypothesis that participation in parkrun is influenced by the socio-economic characteristics of both parkrunners and their park. Two parkruns, 4.5 km apart, were selected in the city of Sheffield in the United Kingdom. Defined by indices of multiple deprivation, Castle parkrun is located in an economically deprived neighbourhood and Hallam parkrun is in a prosperous area of the city. Parkrunners were defined by applying these same indices to the neighbourhood of home registration. Results: (i) the prosperous Hallam catchment area produced over five times more parkrun participants than Castle; (ii) compared with Castle, Hallam parkrun attracted more participants from both catchment areas; (iii) consequently, Hallam parkrun had seven times more participants than Castle parkrun. Conclusion: establishing parkruns in deprived areas is a necessary but not sufficient prerequisite for equity of participation in this heath promoting activity.
Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1
Authors: Coleman Dawn M , Wang Yu , Yang Min-Lee , Hunker Kristina L , Birt Isabelle , Bergin Ingrid L , Li Jun Z , Stanley James C , Ganesh Santhi K 
Published: September 2021

Abstract
The etiology of renal artery stenosis (RAS) and abdominal aortic coarctation (AAC) causing the midaortic syndrome (MAS), often resulting in renovascular hypertension (RVH), remains ill-defined. Neurofibromatosis type 1 (NF-1) is frequently observed in children with RVH. Consecutive pediatric patients (N = 102) presenting with RVH secondary to RAS with and without concurrent AAC were prospectively enrolled in a clinical data base, and blood, saliva and operative tissue, when available, were collected. Among the 102 children, 13 were having a concurrent clinical diagnosis of NF-1 (12.5%). Whole exome sequencing was performed for germline variant detection, and RNA-Seq analysis of NF1, MAPK pathway genes and MCP1 levels were undertaken in five NF-1 stenotic renal arteries, as well as control renal and mesenteric arteries from children with no known vasculopathy or NF-1. In 11 unrelated children with sequencing data, 11 NF1 genetic variants were identified, of which 10 had not been reported in gnomAD. Histologic analysis of NF-1 RAS specimens consistently revealed intimal thickening, disruption of the internal elastic lamina and medial thinning. Analysis of transcript expression in arterial lesions documented an approximately 5-fold reduction in NF1 expression, confirming heterozygosity, MAPK pathway activation and increased MCP1 expression. In summary, NF-1-related RVH in children is rare but often severe and progressive and, as such, important to recognize. It is associated with histologic and molecular features consistent with an aggressive adverse vascular remodeling process. Further research is necessary to define the mechanisms underlying these findings.
How Africa and China may shape UN peacekeeping beyond the liberal international order
Authors: Coleman Katharina P , Job Brian L 
Published: September 2021

Abstract
UN peacekeeping became a flagship activity of the liberal international order (LIO) in the post-Cold War era, characterized by globalization, liberal norms and western leadership. Western states' diminished support for LIO UN peacekeeping has left it increasingly open to challenge, but significant changes are only likely if a strong group of states coalesces around an alternative model of UN peacekeeping. This article highlights African actors and China as well positioned to play pivotal roles in such a coalition. African states, who host the preponderance of UN missions and furnish almost half of the UN's uniformed peacekeepers, support globalized UN peacekeeping, show relatively weak support for the most liberal peacebuilding principles and assert the need for African-led solutions to continental crises. China's influence reflects its P5 status, financial and personnel contributions to UN peacekeeping and engagement with regional actors, notably in Africa. Aspiring to global leadership and a ‘new world order’, China endorses globalized UN peacekeeping but proposes a non-liberal (and non-western led) notion of ‘developmental peace’ to guide it. The complementarities between African and Chinese priorities raise the possibility of a profound challenge to LIO peacekeeping. Rather than heralding deglobalization, however, this challenge illustrates that post-LIO international institutions may instead be characterized by deliberalization and dewesternization.
Innovating Big Tech firms and competition policy: favoring dynamic over static competition
Authors: Petit Nicolas , Teece David J 
Published: September 2021

AbstractThis paper gives a fresh account of competition in the digital economy. Economic analysis in the field of industrial organization remains largely focused on a sophisticated version of the Schumpeter–Arrow debate, which is unresolved and largely irrelevant. We posit the need to look at competition anew. Static models of monopoly firms and markets in equilibrium are often used to characterize Big Tech firms’ size and scope. We suggest that this characterization is inappropriate because the growth and diversification of many digital firms lead to a situation of broad-spectrum competition that cuts across markets. Current market positions do not reflect entrenched monopoly power but are vulnerable to competitive pressure of disequilibrating forces arising from the use of data-driven operating models, astute resource orchestration, and the exercise of dynamic capabilities. A few strategic errors by management in the handling of internal transitions and/or external challenges and they could be competitively impaired. The implications of a more dynamic understanding of the competition process in the tech sector are explored. We consider how big data and entrepreneurial management impacts firm performance. We also explore the nature of different types of rents (Schumpeterian, Ricardian, and monopoly rents) and suggest a modified long-term consumer welfare standard for competition policy. We formulate preliminary tests and predictors to assess dynamic competition. Our perspective advances a policy stance that favors innovation.
Determining the global outcomes of traumatic brain injury in low-, middle- and high- income countries: a prospective, global neurosurgery, multicenter cohort study (Global NeuroSurg 1 Study Protocol)
Authors: Negida Ahmed , Teton Zoe , Stedelin Brittany , Nerison Caleb , Al-Shami Hieder , Hegazy Ahmed , Raslan Ahmed M T 
Published: September 2021

Abstract
Globally, traumatic brain injury (TBI) affects 69 million individuals every year. However, there are wide variations in the management of TBI across low-, middle- and high-income countries which reflects on the outcomes of TBI worldwide. This study aims to provide a comprehensive global picture of the surgical and nonsurgical management and outcomes of TBI. The Global NeuroSurg 1 study is a prospective international multicentre cohort study conducted in self-selected registered centers. Any hospital receiving and managing TBI patients is eligible to participate (registration through www.globalneurosurg.org). After obtaining institutional ethical approvals, collaborator teams collect consecutive TBI patient data within any 2 weeks from the 1 June 2019 to the 30 September 2021 with 90 days of follow-up for every patient. Data items include (1) patient demographics, (2) TBI timing, severity and mechanism, (3) clinical status of the patient, (4) radiographic findings, (5) surgical and nonsurgical management and (6) patient survival and Glasgow outcome score. All data are submitted to the secure RedCap system of Oregon Health and Science University, OR. Binary logistic regression analysis will be conducted to evaluate the predictors of 30-day mortality. The odds ratios and the corresponding 95% confidence intervals will be calculated for each variable. Then variables that are independently contributing to the mortality will be selected and examined. Study ethical approvals or ethical approval waivers are obtained from all participating centers. All collected data are kept confidential and will be used only for the purpose of this study.
Mandating the COVID-19 Vaccine for U.S. Service Members: An Exploration of Ethical Arguments
Authors: Krick Jeanne A , Reese Tyler R 
Published: September 2021

ABSTRACT
As the COVID-19 pandemic continues across the globe, the advent of novel vaccines has created a possible path to prepandemic life for many. Still, many individuals, including those in the U.S. military, remain hesitant about getting vaccinated. The U.S. Food and Drug Administration recently granted full approval to the Pfizer-BioNTech mRNA vaccine (Comirnaty). Consistent with messaging from President Biden, the Department of Defense leadership has instructed the military to prepare for mandatory vaccination. While many have praised this declaration, others have raised concerns regarding the suppression of individual service member autonomy. This commentary explains the different ethical principles relevant to individual autonomy and how they are understood in a military context and then explores the ethical arguments both for and against mandating vaccination for all U.S. service members.