bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of potential modifier genes in Chinese patients with Wilson disease
Authors: Zhou Donghu , Jia Siyu , Yi Liping , Wu Zhen , Song Yi , Zhang Bei , Li Yanmeng , Yang Xiaoxi , Xu Anjian , Li Xiaojin , Zhang Wei , Duan Weijia , Li Zhenkun , Qi Saiping , Chen Zhibin , Ouyang Qin , Jia Jidong , Huang Jian , Ou Xiaojuan , You Hong 
Published: March 2022

Abstract
The mutations in modifier genes may contribute to some inherited diseases including Wilson disease (WD). This study was designed to identify potential modifier genes that contribute to WD. A total of 10 WD patients with single or no heterozygous ATP7B mutations were recruited for whole-exome sequencing (WES). Five hundred and thirteen candidate genes, of which the genetic variants present in at least two patients, were identified. In order to clarify which proteins might be involved in copper transfer or metabolism processes, the isobaric tags for relative and absolute quantitation (iTRAQ) was performed to identify the differentially expressed proteins between normal and CuSO4-treated cell lines. Thirteen genes/proteins were identified by both WES and iTRAQ, indicating that disease-causing variants of these genes may actually contribute to the aberrant copper ion accumulation. Additionally, the c.86C &gt; T (p.S29L) mutation in the SLC31A2 gene (coding CTR2) has a relative higher frequency in our cohort of WD patients (6/191) than reported (0.0024 in gnomAD database) in our healthy donors (0/109), and CTR2S29L leads to increased intracellular Cu concentration and Cu-induced apoptosis in cultured cell lines. In conclusion, the WES and iTRAQ approaches successfully identified several disease-causing variants in potential modifier genes that may be involved in the WD phenotype.
Functions of consciousness: conceptual clarification
Authors: Niikawa Takuya , Miyahara Katsunori , Hamada Hiro Taiyo , Nishida Satoshi 
Published: March 2022

Abstract
There are many theories of the functions of consciousness. How these theories relate to each other, how we should assess them, and whether any integration of them is possible are all issues that remain unclear. To contribute to a solution, this paper offers a conceptual framework to clarify the theories of the functions of consciousness. This framework consists of three dimensions: (i) target, (ii) explanatory order, and (iii) necessity/sufficiency. The first dimension, target, clarifies each theory in terms of the kind of consciousness it targets. The second dimension, explanatory order, clarifies each theory in terms of how it conceives of the explanatory relation between consciousness and function. The third dimension, necessity/sufficiency, clarifies each theory in terms of the necessity/sufficiency relation posited between consciousness and function. We demonstrate the usefulness of this framework by applying it to some existing scientific and philosophical theories of the functions of consciousness.
Response: Collective Moral Agents and Their Collective-Level Virtues
Authors: MacKay Kathryn 
Published: March 2022

AbstractIn this short piece, I attempt to respond to some of the challenges raised by Jessica Nihlén Fahlquist and Karen Meagher in their commentaries on my paper, ‘Public Health Virtue Ethics’. While these authors have made many insightful and challenging remarks, I mostly focus on two questions here: first, about the nature of collectives as moral agents, in response to Nihlén Fahlquist, and second, about the concept of a collective-level virtue, in response to Meagher.
How Do Inheritances Shape Wealth Inequality? Theory and Evidence from Sweden
Authors: Nekoei Arash , Seim David 
Published: March 2022

Abstract
This article aims to measure and understand the role of inheritances in shaping wealth inequality. We use a quasi-experimental design and Swedish administrative data to document that the average heir depletes her inheritance within a decade while the inheritances of wealthy heirs remain intact. These different depletion rates are not due to different consumption or labour supply responses but due to different rates of return on inherited wealth. Upon their receipt, inheritances reduce relative measures of wealth inequality, such as top shares or percentile ratios. Theoretically, this reduction in inequality could be due to either a compressed inheritance distribution or similar chances of having wealthy parents (high intergenerational mobility). Empirically, the first force is more significant in Sweden. Within a decade, however, the effect is reversed: inheritances increase wealth inequality since the different depletion rates widen the inequality in inherited wealth over time. This implies that inheritance taxation can reduce long run wealth inequality only through the taxation of wealthy heirs.
URANIUM AND 210PO RADIONUCLIDES IN DRINKING WATER IN SOUTHERN BULGARIA AND EXPECTED RADIATION DOSES
Authors: Slavchev Bozhidar , Tonev Dimitar , Dobrev Lyuben , Geleva Elena , Veleva Blagorodka , Protohristov Hristo , Goutev Nikolay , Demerdjiev Anguel , Dimitrova Desislava 
Published: March 2022

Abstract
The activity concentrations of the naturally occurring radionuclides 238U, 234U and 210Po have been determined for the first time in drinking water from certain sources in Southern Bulgaria using nuclear and radiochemical methods. The results obtained for the water samples vary in the intervals 0.6–678 mBq l−1 for 238U, 1.4–1484 mBq l−1 for 234U, &lt;0.3–13.6 mBq l−1 for 210Po and 1.04–10.6 for the 234U/238U ratio. The annual effective dose from 238U, 234U and 210Po ranges from 1.09 to 44.1 μSv y−1, 0.78 to 46.8 μSv y−1 and 0.77 to 62.8 μSv y−1 for infants, children and adults, respectively. The annual effective dose due to consumption of drinking water is below the individual dose criterion of 100 μSv y−1 recommended by the World Health Organization. The natural radioactivity of the water sources investigated is below the national and international limits.
Improving Accuracy in Documenting Cardiopulmonary Arrest Events
Authors: Joseph Bridgid , Sulmonte Kimberlyann , DeSanto-Madeya Susan , Koeniger-Donohue Rebecca , Cocchi Michael 
Published: March 2022

ABSTRACT

Purpose:
Traditional paper documentation of cardiopulmonary arrest (CPA) events is often inaccurate and incomplete. Electronic documentation supports appropriate process improvements and optimal patient care and contributes to greater accuracy in national databases from which national benchmarks are derived. The aim of this quality improvement initiative was to compare the timeliness and accuracy of paper-based versus electronic documentation of live CPA events.

Methods:
Nurses on four medical–surgical pilot units received training on the use of a handheld electronic device with a documentation app (Full Code Pro) to document live CPA events. The data were downloaded into an Excel file and compared for completeness and accuracy with the data downloaded from the LIFEPAK 15 defibrillator using CODE-STAT 10.0 software. Electronic documentation and traditional paper documentation of events from units where the intervention wasn't implemented (control units) were also compared with the CODE-STAT data.

Results:
There were 26 CPA events: six on the pilot units were documented using the electronic app, 12 on the pilot units were documented using the paper-based method (the latter were excluded from analysis), and eight on the control units were documented using the existing paper forms. Data accuracy was significantly greater in the electronic group compared with the paper-based group for recorded rhythm (100% versus 13%, P = 0.01) and end-tidal carbon dioxide (67% versus 0%, P = 0.02). The electronic method significantly outperformed the paper-based method in legibility (100% versus 13%, P < 0.01). Staff reported increased satisfaction with the electronic documentation method.

Conclusion:
Using electronic handheld devices to document live resuscitation events demonstrated the inaccuracies of paper-based documentation, supporting the findings of previous studies. Electronic documentation was superior to paper in overall documentation quality and allowed providers to identify and quickly document the initial rhythm of the event. A larger study using electronic documentation to capture more ventricular fibrillation and ventricular tachycardia arrests would show a greater accuracy of timing, which would have large positive effects on overall resuscitation quality.
Secondary Data in Nursing Research
Authors: Keeler Courtney , Curtis Alexa Colgrove 
Published: March 2022

ABSTRACT:
Editor's note: This is the ninth article in a series on clinical research by nurses. The series is designed to give nurses the knowledge and skills they need to participate in research, step by step. Each column will present the concepts that underpin evidence-based practice—from research design to data interpretation. The articles will be accompanied by a podcast offering more insight and context from the authors. To see all the articles in the series, go to https://links.lww.com/AJN/A204.
Does An Osteotomy Performed in Congenital Pseudarthrosis of the Tibia Heal?
Authors: Nahm Nickolas J. , Makarewich Christopher A. , Rosenwasser Katherine A. , Herzenberg John E. , McClure Philip K. 
Published: March 2022

Background:
Shortening and deformity of the tibia commonly occur during the treatment of congenital pseudarthrosis of the tibia (CPT). The role of osteotomies in lengthening and deformity correction remains controversial in CPT. This study evaluates the approach to and outcome after osteotomy performed in CPT.

Methods:
We performed an IRB approved retrospective review of consecutive patients with CPT treated at our institution from 2010 through 2019. Patients who underwent osteotomies were included in this study.

Results:
Nine patients (10 osteotomies—5 proximal metaphyseal and 5 diaphyseal) with a median age at osteotomy of 8.9 years (range: 4 to 21 y) were included. Six patients had neurofibromatosis-1, 1 had cleidocranial dysplasia, and 2 patients had idiopathic CPT. Four osteotomies were performed for deformity correction, 3 osteotomies to allow intramedullary instrumentation, and 3 osteotomies for lengthening. Five osteotomies were preceded by zolendronate treatment before surgery. Nine were fixed with a rod supplemented with external fixation (7) or locking plates (2). One osteotomy was stabilized with locked intramedullary nailing alone. Four osteotomies were supplemented with autologous bone graft, and bone morphogenic protein-2 was utilized in 3 osteotomies. Median time to healing was 222.5 days (range: 124 to 323 d). One osteotomy (locked intramedullary nailing) required grafting at 5.5 months and then healed uneventfully. Median healing index for patients undergoing lengthening was 57.9 days/cm (range: 35 to 81 d/cm). All 3 osteotomies performed for lengthening required a second osteotomy for preconsolidation at a mean of 34 days. Other complications included compartment syndrome requiring fasciotomy (n=2), tibial osteomyelitis (n=1), and fracture distal to cross-union (n=1).

Conclusions:
Contrary to much of the established practice, osteotomies may be safely performed in CPT for various indications. All osteotomies healed with only 1 osteotomy requiring secondary bone grafting. Although time to healing of the osteotomy was generally prolonged, this study suggests, somewhat surprisingly, that preconsolidation can occur frequently in lengthening procedures.

Level of Evidence:
Level IV—case series.
Corneal Epithelial Thickness Mapping in the Diagnosis of Ocular Surface Disorders Involving the Corneal Epithelium: A Comparative Study
Authors: Levy Arielle , Georgeon Cristina , Knoeri Juliette , Tourabaly Moïse , Leveziel Loïc , Bouheraoua Nacim , Borderie Vincent M. 
Published: March 2022

Purpose:
The purpose of this study was to analyze the role of corneal epithelial thickness (ET) mapping provided by spectral domain optical coherence tomography in the diagnosis of ocular surface disorders (OSDs) involving the corneal epithelium.

Design:
This was a retrospective comparative study.

Methods:
Institutional settings are as follows. Study population includes 303 eyes with an OSD and 55 normal eyes (controls). Observation procedures include spectral domain optical coherence tomography with epithelial mapping in the central 6 mm. Main outcome measures include ET map classification (normal, doughnut, spoke-wheel, localized/diffuse, and thinning/thickening patterns) and ET data and statistics (minimum, maximum, and SD). A quantitative threshold was determined with receiver operating curves to distinguish pathological from normal corneas. Sensitivity and specificity of classification and quantitative data were calculated using all eyes to assess the ability to distinguish corneas with a given corneal disorder from other conditions.

Results:
Classification of full agreement between 3 readers was obtained in 75.4% to 99.4% of cases. Main OSD features were keratoconus (135 eyes), doughnut pattern (sensitivity/specificity = 56/94%), and max–min ET ≥ 13 μm (84/43%); limbal deficiency (56 eyes), spoke-wheel pattern (66/98%), and max–min ET ≥ 14 μm (91/59%); epithelial basement membrane dystrophy (55 eyes), inferior thickening pattern (55/92%), and central ET > 56 μm (53/81%); dry eye (21 eyes), superior thinning pattern (67/88%), and minimal ET ≤ 44 μm (86/48%); pterygium (10 eyes), nasal thickening pattern (100/86%), and nasal ET > 56 μm (80/71%); and in situ carcinoma (11 eyes), max ET > 60 μm (91/60%), and ET SD >5 μm (100/58%).

Conclusions:
The epithelial map pattern recognition combined with quantitative analysis of ET is relevant for the diagnosis of OSDs and for distinguishing various OSDs from each other. Deep learning analysis of big data could lead to the fully automated diagnosis of these disorders.
Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status
Authors: Antrobus Mark R. , Brazier Jon , Callus Peter , Herbert Adam J. , Stebbings Georgina K. , Day Stephen H. , Kilduff Liam P. , Bennett Mark A. , Erskine Robert M. , Raleigh Stuart M. , Collins Malcolm , Pitsiladis Yannis P. , Heffernan Shane M. , Williams Alun G. 
Published: March 2022

Objective:
Concussions are common match injuries in elite rugby, and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby status and 8 concussion-associated risk polymorphisms. We hypothesized that concussion-associated risk genotypes and alleles would be underrepresented in elite rugby athletes compared with nonathletes.

Design:
A case–control genetic association study.

Setting:
Institutional (university).

Participants:
Elite White male rugby athletes [n = 668, mean (SD) height 1.85 (0.07) m, mass 102 (12) kg, and age 29 (7) years] and 1015 nonathlete White men and women (48% men).

Interventions:
Genotype was the independent variable, obtained by PCR of genomic DNA using TaqMan probes.

Main Outcome Measure:
Elite athlete status with groups compared using χ2 and odds ratio (OR).

Results:
The COMT rs4680 Met/Met (AA) genotype, Met allele possession, and Met allele frequency were lower in rugby athletes (24.8%, 74.6%, and 49.7%, respectively) than nonathletes (30.2%, 77.6%, and 54.0%; P < 0.05). The Val/Val (GG) genotype was more common in elite rugby athletes than nonathletes (OR 1.39, 95% confidence interval 1.04-1.86). No other polymorphism was associated with elite athlete status.

Conclusions:
Elite rugby athlete status is associated with COMT rs4680 genotype that, acting pleiotropically, could affect stress resilience and behavioral traits during competition, concussion risk, and/or recovery from concussion. Consequently, assessing COMT rs4680 genotype might aid future individualized management of concussion risk among athletes.
Defining the Concept and Clinical Features of Epistemic Trust
Authors: Knapen Saskia , van Diemen Roos , Hutsebaut Joost , Fonagy Peter , Beekman Aartjan 
Published: March 2022

Abstract
Early identification of “patients at risk” for not completing regular treatment or not benefitting (sufficiently) from treatment might be among the most cost-effective strategies in mental health care. The recently introduced concept of epistemic trust (ET) may have the potential value to predict patients at risk and therefore act as a marker of treatment outcome. We argue that ET may be the final common pathway through which aversive relational experiences in the past result in interpersonal dysfunctioning, which in turn result in dysfunctional therapeutic relationships, rendering it difficult for patients to trust whatever is offered to learn in therapy. Hence, the concept of ET can play an essential role in personalized medicine, allowing for a more tailored treatment assignment to specific patients' characteristics, which may improve treatment outcomes. In this brief report, we define the clinical features of ET by describing its core domains based on consensus of expert opinion on the concept. The response rate was high, and there was a high level of agreement across experts, demonstrating a strong consensus between experts on the definition and clinical features of ET and mistrust and its significance to the understanding of personality disorders.
By means of having a clear definition of the clinical features of ET, we hope to make it accessible for assessment.
Ethical Dilemmas in Global Plastic Surgery: Divergent Perspectives of Local and Visiting Surgeons
Authors: Schoenbrunner Anna R. , McIntyre Joyce K. , Nthumba Peter , Muchemwa Faith Chengetavyi , Sigler Alicia , Gosman Amanda A. 
Published: March 2022

Background:
As more of the world’s resources are directed toward improving patient access to safe surgical and anesthesia care, there is a growing concern that volunteer surgeons’ “desire to help” has numerous unintended consequences. The purpose of this study was to ask in-country, local surgeons and visiting volunteer plastic surgeons about the frequency of ethical dilemmas for different types of global surgery collaborations and to assess their perception of compliance with the concepts of autonomy, beneficence, nonmaleficence, and justice.

Methods:
A cross-sectional email survey tool was sent to a representative sample of domestic American Society of Plastic Surgeons members, all international members of the American Society of Plastic Surgeons, and international partners of the Volunteers in Plastic Surgery committee of the Plastic Surgery Foundation. The survey response rate was 7.7 percent, with 356 respondents from 65 countries.

Results:
This survey data showed a statistically significant divergence of perspectives between local and visiting surgeons in regard to scope of practice, quality of patient care, impact on local health care systems, perception of the quality of care by local providers, the integrity of the informed consent process, and photography in global plastic surgery collaborations. Though the short-term mission trip model was particularly polarizing when comparing the responses of local and visiting surgeons, educational and research exchanges may also significantly interrupt local health care and incite ethical lapses.

Conclusion:
This survey provides quantitative insight into the impact of current global plastic surgery collaborations and highlights ethical areas of disagreement between local and visiting surgeons.
Neutralization of Omicron BA.1, BA.2, and BA.3 SARS-CoV-2 by 3 doses of BNT162b2 vaccine
Authors: Kurhade Chaitanya , Zou Jing , Xia Hongjie , Cai Hui , Yang Qi , Cutler Mark , Cooper David , Muik Alexander , Jansen Kathrin U. , Xie Xuping , Swanson Kena A. , Shi Pei-Yong 
Published: March 2022

AbstractThe newly emerged Omicron SARS-CoV-2 has 3 distinct sublineages: BA.1, BA.2, and BA.3. BA.1 accounts for the initial surge and is being replaced by BA.2, whereas BA.3 is at a low prevalence at this time. Here we report the neutralization of BNT162b2-vaccinated sera (collected at 1 month after dose 3) against the three Omicron sublineages. To facilitate the neutralization testing, we engineered the complete BA.1, BA.2, or BA.3 spike into an mNeonGreen USA-WA1/2020 SRAS-CoV-2. All BNT162b2-vaccinated sera neutralized USA-WA1/2020, BA.1-, BA.2-, and BA.3-spike SARS-CoV-2s with titers of >20; the neutralization geometric mean titers (GMTs) against the four viruses were 1211, 336, 300, and 190, respectively. Thus, the BA.1-, BA.2-, and BA.3-spike SARS-CoV-2s were 3.6-, 4.0-, and 6.4-fold less efficiently neutralized than the USA-WA1/2020, respectively. Our data have implications in vaccine strategy and understanding the biology of Omicron sublineages.
Localized and Distributed Representations of Person Knowledge for Faces
Authors: Shehzad Zarrar , Taylor JohnMark , McCarthy Gregory 
Published: March 2022

AbstractModular neural models of face processing posit that face-associated person-knowledge is localized in, or accessed through, the ventral anterior temporal lobe (vATL). However, some studies have suggested that person-knowledge is more widely distributed within a larger face-processing network that includes the mid-fusiform gyrus (‘fusiform face area’). Here, we conducted an fMRI study to distinguish whether person-knowledge is localized or distributed by comparing brain responses evoked by synthetic faces, for which participants had learned person-knowledge (biographical facts) and faces for which the subjects had learned only physical facts. After extensive training, participants were cued to recall a particular biographical or physical fact about the upcoming face. In an alternate passive-viewing task, participants were shown the same faces but were not cued to recall biographical or physical facts. Classification analyses (MVPA) were performed on several a priori chosen face-selective regions (ROIs) in the ventral temporal cortex. Within each ROI tested in isolation, MVPA discriminated faces associated with person-knowledge from faces only associated with physical facts. This result is consistent with a distributed model for person-knowledge. However, when tested in a single model to separate shared and unique information, unique information was limited to the left mid-fusiform and vATL posterior (vATL-p) ROIs. Moreover, the feature weights from these two areas showed that only left vATL-p was specialized for processing biographical facts. This latter result was obtained only when these biographical facts were explicitly retrieved in the cueing task. Thus, our results indicate that the left vATL-p represents explicit recall of face-associated person-knowledge.New & NoteworthyWhether person knowledge for faces is localized in a domain-specific region, vATL, or distributed in many domain-general brain regions, including the mid-fusiform gyrus, is hotly contested. We resolve this debate by using multivariate analyses to partial fMRI signal from different brain regions into unique and shared variance. Our findings show that unique information for person knowledge is found in both the vATL and mid-fusiform but only the vATL represents explicit recall of face-associated person knowledge.