bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integrated Polygenic Tool Substantially Enhances Coronary Artery Disease Prediction
Authors: Riveros-Mckay Fernando , Weale Michael E. , Moore Rachel , Selzam Saskia , Krapohl Eva , Sivley R. Michael , Tarran William A. , Sørensen Peter , Lachapelle Alexander S. , Griffiths Jonathan A. , Saffari Ayden , Deanfield John , Spencer Chris C.A. , Hippisley-Cox Julia , Hunter David J. , O’Sullivan Jack W. , Ashley Euan A. , Plagnol Vincent , Donnelly Peter 
Published: March 2021

Background:
There is considerable interest in whether genetic data can be used to improve standard cardiovascular disease risk calculators, as the latter are routinely used in clinical practice to manage preventative treatment.

Methods:
Using the UK Biobank resource, we developed our own polygenic risk score for coronary artery disease (CAD). We used an additional 60 000 UK Biobank individuals to develop an integrated risk tool (IRT) that combined our polygenic risk score with established risk tools (either the American Heart Association/American College of Cardiology pooled cohort equations [PCE] or UK QRISK3), and we tested our IRT in an additional, independent set of 186 451 UK Biobank individuals.

Results:
The novel CAD polygenic risk score shows superior predictive power for CAD events, compared with other published polygenic risk scores, and is largely uncorrelated with PCE and QRISK3. When combined with PCE into an IRT, it has superior predictive accuracy. Overall, 10.4% of incident CAD cases were misclassified as low risk by PCE and correctly classified as high risk by the IRT, compared with 4.4% misclassified by the IRT and correctly classified by PCE. The overall net reclassification improvement for the IRT was 5.9% (95% CI, 4.7–7.0). When individuals were stratified into age-by-sex subgroups, the improvement was larger for all subgroups (range, 8.3%–15.4%), with the best performance in 40- to 54-year-old men (15.4% [95% CI, 11.6–19.3]). Comparable results were found using a different risk tool (QRISK3) and also a broader definition of cardiovascular disease. Use of the IRT is estimated to avoid up to 12 000 deaths in the United States over a 5-year period.

Conclusions:
An IRT that includes polygenic risk outperforms current risk stratification tools and offers greater opportunity for early interventions. Given the plummeting costs of genetic tests, future iterations of CAD risk tools would be enhanced with the addition of a person’s polygenic risk.
Personal Autonomy and its Direct Constitutional Limits – a Polish Perspective
Authors: Podkowik Jan 
Published: March 2021

Abstract
The article discusses the concept of personal autonomy as a constitutional fundamental right protected by the Polish Constitution of 1997. Autonomy is not only a constitutional value of an unspecified character but also a right with its own specific normative content. Personal autonomy, also called the right to self-determination, is rooted in natural law. The scope of its constitutional protection is determined and – simultaneously – limited by constitutional standards of an absolute character such as human dignity, non-discrimination, and the like. Autonomy as a constitutional right may be subjected to further restrictions imposed by the legislator in accordance with the principle of proportionality. The legal status of an individual’s right to self determination is thus determined by all the prohibitions and orders resulting directly from the Constitution as well as sub-constitutional statutory provisions which respect the principle of proportionality requirements.
Quantifications of the Secondary Qualities, Heat and Cold, on the Earliest Scales of Thermoscopes
Authors: Heeffer Albrecht 
Published: March 2021

Abstract
While scaled thermoscopes were developed only at the beginning of the seventeenth century, the medical tradition had already started to quantify some secondary qualities towards the end of sixteenth century. However, degrees of heat and cold were only meaningful in connection with Galenic-Aristotelean ontology, consisting of elements, temperaments and degrees of the four humours. The first graduated thermoscopes transformed the prevailing conceptualizations of heat and cold. By delegating some specific senses of heat and cold to an external contrivance, together with the evolution towards a linear numerical scale, these qualities became objectified as observable phenomena. The degree of expansion and compression of air, and later liquid, became an observable measure of temperature and narrowed down the existing conceptualizations of temperature. The paper also discusses the three types of scale that were used in the early thermoscopes between 1610 and 1640.
The MJO-QBO Relationship in a GCM with Stratospheric Nudging
Authors: Martin Zane , Orbe Clara , Wang Shuguang , Sobel Adam 
Published: March 2021

AbstractObservational studies show a strong connection between the intraseasonal Madden-Julian oscillation (MJO) and the stratospheric quasi-biennial oscillation (QBO): the boreal winter MJO is stronger, more predictable, and has different teleconnections when the QBO in the lower stratosphere is easterly versus westerly. Despite the strength of the observed connection, global climate models do not produce an MJO-QBO link. Here the authors use a current-generation ocean-atmosphere coupled NASA Goddard Institute for Space Studies global climate model (Model E2.1) to examine the MJO-QBO link. To represent the QBO with minimal bias, the model zonal mean stratospheric zonal and meridional winds are relaxed to reanalysis fields from 1980-2017. The model troposphere, including the MJO, is allowed to freely evolve. The model with stratospheric nudging captures QBO signals well, including QBO temperature anomalies. However, an ensemble of nudged simulations still lacks an MJO-QBO connection.
How Personal Experience Affects Perception of and Decisions Related to Climate Change: A Psychological View
Authors: Brügger Adrian , Demski Christina , Capstick Stuart 
Published: March 2021

AbstractThe proportion of the world’s population exposed to above-average monthly temperatures has been rising consistently in recent decades and will continue to grow. This and similar trends make it more likely that people will personally experience extreme weather events and seasonal changes related to climate change. A question that follows from this is to what extent experiences may influence climate-related beliefs, attitudes, and the willingness to act. Although research is being done to examine the effects of such experiences, many of these studies have two important shortcomings. First, they propose effects of experiences but remain unclear on the psychological processes that underlie those effects. Second, if they do make assumptions about psychological processes, they do not typically corroborate them with empirical evidence. In other words, a considerable body of research in this field rests on relatively unfounded intuitions. To advance the theoretical understanding of how experiences of climate change could affect the motivation to act on climate change, we introduce a conceptual framework that organizes insights from psychology along three clusters of processes: 1) noticing and remembering, 2) mental representations, and 3) risk processing and decision-making. Within each of these steps, we identify and explicate psychological processes that could occur when people personally experience climate change, and we formulate theory-based, testable hypotheses. By making assumptions explicit and tying them to findings from basic and applied research from psychology, this paper provides a solid basis for future research and for advancing theory.
Differential Pulley Release in Trigger Finger: A Prospective, Randomized Clinical Trial
Authors: Wu Robin T. , Walker Marc E. , Peck Connor J. , Liu Yuen-Jong , Hetzler Peter , Le Nicole K. , Smetona John , Thomson J. Grant 
Published: March 2021

Background: The palmar aponeurosis or “A0 pulley” may play a role in trigger finger pathology. This study assesses the involvement of the A0 pulley in patients receiving trigger finger release. Methods: This single-surgeon, prospective, randomized clinical trial was conducted among consenting patients with symptomatic trigger finger. Intraoperative coin toss was used to randomize initial release of either the A0 or A1 pulley. Following release, active flexion and extension of the affected digit were examined. The remaining pulley was then released in sequence, and clinical trigger status was recorded. Results: Thirty fingers from 24 patients were released; 17 fingers received A0 release first, and 13 received A1 release. Following initial A0 release, 8 fingers (47%) demonstrated complete resolution of symptoms, 4 (24%) demonstrated improvement but incomplete resolution of triggering, and 5 (29.4%) demonstrated no improvement. Following initial A1 release, 6 fingers (46%) demonstrated complete resolution, 3 (23%) demonstrated improvement but incomplete resolution of triggering, and 4 (31%) demonstrated no improvement. All patients demonstrated complete resolution after surgical release of both sites. Neither initial A1 release nor initial A0 release was statistically associated with complete, incomplete, or failed symptom resolution. Conclusions: These data implicate the A0 pulley as the primary cause of 31% to 47% of trigger fingers in our study. Although larger trials are needed to validate these results, our study suggests that release of both A0 and A1 pulleys may offer greater symptom resolution than release of the A1 pulley alone.
Sport- and Gender-Based Differences in Head Impact Exposure and Mechanism in High School Sports
Authors: Huber Colin M. , Patton Declan A. , McDonald Catherine C. , Jain Divya , Simms Katherine , Lallo Valerie A. , Margulies Susan S. , Master Christina L. , Arbogast Kristy B. 
Published: March 2021

Background: Repeated head impacts sustained by athletes have been linked to short-term neurophysiologic deficits; thus, there is growing concern about the number of head impacts sustained in sports. Accurate head impact exposure data obtained via head impact sensors may help identify appropriate strategies across sports and between genders to mitigate repetitive head impacts. Purpose: To quantify sport- and gender-based differences in head impact rate and mechanism for adolescents. Study Design: Cohort study; Level of evidence, 2. Methods: High school female and male varsity soccer, basketball, lacrosse, and field hockey (female only) teams were instrumented with headband-mounted impact sensors during games over 2 seasons of soccer and 1 season of basketball, lacrosse, and field hockey. Video review was used to remove false-positive sensor-recorded events, and the head impact rate per athlete-exposure (AE) was calculated. Impact mechanism was categorized as equipment to head, fall, player to head, or head to ball (soccer only). Results: Male players had significantly higher head impact rates as compared with female players in soccer (3.08 vs 1.41 impacts/AE; rate ratio, 2.2 [95% CI, 1.8-2.6]), basketball (0.90 vs 0.25; 3.6 [2.6-4.6]), and lacrosse (0.83 vs 0.06; 12.9 [10.1-15.8]). Impact mechanism distributions were similar within sports between boys and girls. In soccer, head to ball represented 78% of impacts, whereas at least 88% in basketball were player-to-player contact. Conclusion: Across sports for boys and girls, soccer had the highest impact rate. Male high school soccer, basketball, and lacrosse teams had significantly higher head impact rates than did female teams of the same sport. For girls, basketball had a higher head impact rate than did lacrosse and field hockey, and for boys, basketball had a similar impact rate to lacrosse, a collision sport. Sport differences in the distribution of impact mechanisms create sport-specific targets for reducing head impact exposure.
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration
Authors: Dolin Robert H. , Gothi Shaileshbhai R. , Boxwala Aziz , Heale Bret S. E. , Husami Ammar , Jones James , Khangar Himanshu , Londhe Shubham , Naeymi-Rad Frank , Rao Soujanya , Rapchak Barbara , Shalaby James , Suraj Varun , Xie Ning , Chamala Srikar , Alterovitz Gil 
Published: March 2021

Abstract
Background
VCF formatted files are the lingua franca of next-generation sequencing, whereas HL7 FHIR is emerging as a standard language for electronic health record interoperability. A growing number of FHIR-based clinical genomics applications are emerging. Here, we describe an open source utility for converting variants from VCF format into HL7 FHIR format.

Results
vcf2fhir converts VCF variants into a FHIR Genomics Diagnostic Report. Conversion translates each VCF row into a corresponding FHIR-formatted variant in the generated report. In scope are simple variants (SNVs, MNVs, Indels), along with zygosity and phase relationships, for autosomes, sex chromosomes, and mitochondrial DNA. Input parameters include VCF file and genome build (‘GRCh37’ or ‘GRCh38’); and optionally a conversion region that indicates the region(s) to convert, a studied region that lists genomic regions studied by the lab, and a non-callable region that lists studied regions deemed uncallable by the lab. Conversion can be limited to a subset of VCF by supplying genomic coordinates of the conversion region(s). If studied and non-callable regions are also supplied, the output FHIR report will include ‘region-studied’ observations that detail which portions of the conversion region were studied, and of those studied regions, which portions were deemed uncallable. We illustrate the vcf2fhir utility via two case studies. The first, 'SMART Cancer Navigator', is a web application that offers clinical decision support by linking patient EHR information to cancerous gene variants. The second, 'Precision Genomics Integration Platform', intersects a patient's FHIR-formatted clinical and genomic data with knowledge bases in order to provide on-demand delivery of contextually relevant genomic findings and recommendations to the EHR.

Conclusions
Experience to date shows that the vcf2fhir utility can be effectively woven into clinically useful genomic-EHR integration pipelines. Additional testing will be a critical step towards the clinical validation of this utility, enabling it to be integrated in a variety of real world data flow scenarios. For now, we propose the use of this utility primarily to accelerate FHIR Genomics understanding and to facilitate experimentation with further integration of genomics data into the EHR.
Protective effects of intracerebroventricular adiponectin against olfactory impairments in an amyloid β1–42 rat model
Authors: Guzmán-Ruiz Mara A. , Herrera-González Amor , Jiménez Adriana , Candelas-Juárez Alan , Quiroga-Lozano Crystal , Castillo-Díaz Claudia , Orta-Salazar Erika , Organista-Juárez Diana , Díaz-Cintra Sofía , Guevara-Guzmán Rosalinda 
Published: March 2021

AbstractBackgroundAlzheimer’s disease (AD) is characterized by cognitive impairment that eventually develops into dementia. Amyloid-beta (Aβ) accumulation is a widely described hallmark in AD, and has been reported to cause olfactory dysfunction, a condition considered an early marker of the disease associated with injuries in the olfactory bulb (OB), the hippocampus (HIPP) and other odor-related cortexes. Adiponectin (APN) is an adipokine with neuroprotective effects. Studies have demonstrated that APN administration decreases Aβ neurotoxicity and Tau hyperphosphorylation in the HIPP, reducing cognitive impairment. However, there are no studies regarding the neuroprotective effects of APN in the olfactory dysfunction observed in the Aβ rat model. The aim of the present study is to determine whether the intracerebroventricular (i.c.v) administration of APN prevents the early olfactory dysfunction in an i.c.v Amyloid-beta1–42(Aβ1–42) rat model. Hence, we evaluated olfactory function by using a battery of olfactory tests aimed to assess olfactory memory, discrimination and detection in the Aβ rat model treated with APN. In addition, we determined the number of cells expressing the neuronal nuclei (NeuN), as well as the number of microglial cells by using the ionized calcium-binding adapter molecule 1 (Iba-1) marker in the OB and, CA1, CA3, hilus and dentate gyrus (DG) in the HIPP. Finally, we determined Arginase-1 expression in both nuclei through Western blot.ResultsWe observed that the i.c.v injection of Aβ decreased olfactory function, which was prevented by the i.c.v administration of APN. In accordance with the olfactory impairment observed in i.c.v Aβ-treated rats, we observed a decrease in NeuN expressing cells in the glomerular layer of the OB, which was also prevented with the i.c.v APN. Furthermore, we observed an increase of Iba-1 cells in CA1, and DG in the HIPP of the Aβ rats, which was prevented by the APN treatment.ConclusionThe present study describes the olfactory impairment of Aβ treated rats and evidences the protective role that APN plays in the brain, by preventing the olfactory impairment induced by Aβ1–42. These results may lead to APN-based pharmacological therapies aimed to ameliorate AD neurotoxic effects.
Epidemiological factors associated with recent HIV infection among newly-diagnosed cases in Singapore, 2013–2017
Authors: Ang Li Wei , Low Carmen , Wong Chen Seong , Boudville Irving Charles , Toh Matthias Paul Han Sim , Archuleta Sophia , Lee Vernon Jian Ming , Leo Yee Sin , Chow Angela , Lin Raymond Tzer-Pin 
Published: March 2021

AbstractBackgroundEarly diagnosis is crucial in securing optimal outcomes in the HIV care cascade. Recent HIV infection (RHI) serves as an indicator of early detection in the course of HIV infection. Surveillance of RHI is important in uncovering at-risk groups in which HIV transmission is ongoing. The study objectives are to estimate the proportion of RHI among persons newly-diagnosed in 2013–2017, and to elucidate epidemiological factors associated with RHI in Singapore.MethodsAs part of the National HIV Molecular Surveillance Programme, residual plasma samples of treatment-naïve HIV-1 positive individuals were tested using the biotinylated peptide-capture enzyme immunoassay with a cutoff of normalized optical density ≤ 0.8 for evidence of RHI. A recent infection testing algorithm was applied for the classification of RHI. We identified risk factors associated with RHI using logistic regression analyses.ResultsA total of 701 newly-diagnosed HIV-infected persons were included in the study. The median age at HIV diagnosis was 38 years (interquartile range, 28–51). The majority were men (94.2%), and sexual route was the predominant mode of HIV transmission (98.3%). Overall, 133/701 (19.0, 95% confidence interval [CI] 16.2–22.0%) were classified as RHI. The proportions of RHI in 2015 (31.1%) and 2017 (31.0%) were significantly higher than in 2014 (11.2%). A significantly higher proportion of men having sex with men (23.4, 95% CI 19.6–27.6%) had RHI compared with heterosexual men (11.1, 95% CI 7.6–15.9%). Independent factors associated with RHI were: age 15–24 years (adjusted odds ratio [aOR] 4.18, 95% CI 1.69–10.31) compared with ≥55 years; HIV diagnosis in 2015 (aOR 2.36, 95% CI 1.25–4.46) and 2017 (aOR 2.52, 95% CI 1.32–4.80) compared with 2013–2014; detection via voluntary testing (aOR 1.91, 95% CI 1.07–3.43) compared with medical care; and self-reported history of HIV test(s) prior to diagnosis (aOR 1.72, 95% CI 1.06–2.81).ConclusionAlthough there appears to be an increasing trend towards early diagnosis, persons with RHI remain a minority in Singapore. The strong associations observed between modifiable behaviors (voluntary testing and HIV testing history) and RHI highlight the importance of increasing the accessibility to HIV testing for at-risk groups.
Effects of body mass index and range of motion on intraoperative change in pelvic tilt during total hip arthroplasty using the direct anterior approach
Authors: Okamoto Masanori , Kawasaki Masashi , Okura Toshiaki , Seki Taisuke , Imagama Shiro 
Published: March 2021

Abstract
Background
Intraoperative pelvic tilt changes that occurs during total hip arthroplasty (THA) in the supine position affects cup placement and sometimes causes malalignment. The relationship between body mass index (BMI) and pelvic movement has been reported for some procedures, but not the direct anterior approach (DAA). The purpose of this study was to investigate intraoperative pelvic tilt changes that occurs during DAA.

Methods
In this single-center, retrospective study, we reviewed 200 hips that underwent primary THA via DAA in the supine position using an accelerometer-based navigation system. Intraoperative changes in pelvic tilt and axial rotation from the start of surgery to cup placement were assessed using the navigation system. Preoperative clinical factors that increased pelvic tilt and axial rotation toward the surgical side by > 10° were analyzed via univariate and multiple logistic regression analyses.

Results
The mean pelvic tilt value increased by 7.6° ± 3.8° (95% confidence interval [CI], 7.1–8.2; range, − 5.0–19.0) intraoperatively, and the axial rotation increased by 3.2° ± 2.7° (95% CI, 2.7–3.7; range, − 13.0–12.0). Univariate analysis revealed that the group with increased pelvic tilt showed significantly greater range of abduction and internal rotation, and significantly lower BMI than the group with no increased tilt. Pre-incisional pelvic tilt was significantly greater in the group with increased axial rotation than in the group with no increased rotation. On logistic regression analysis, BMI (odds ratio [OR], 0.889; 95% CI, 0.809–0.977; p = 0.014) and the range of internal rotation (OR, 1.310; 95% CI, 1.002–1.061; p = 0.038) were predictors of large increases in pelvic tilt. No predictors of large increases in axial rotation were identified.

Conclusion
Significant forward pelvic tilt was observed in patients with a low BMI values and high ranges of internal rotation via THA using the DAA. Findings indicated that surgeons should pay attention to intraoperative pelvic movements, which may help identify patients with significant pelvic tilt changes.