bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heart valve disease in hypocomplementemic urticarial vasculitis syndrome: from immune-mediated degeneration to embolic complications of infective endocarditis—a case report
Authors: Scheggi Valentina , Marchionni Niccolò , Stefàno Pier Luigi 
Published: August 2021

Abstract

Background
Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease due to small vessel inflammation and characterized by chronic urticarial vasculitis and arthritis. Multi-organ manifestations may include glomerulonephritis, ocular inflammation (uveitis, episcleritis), and recurrent abdominal pain. To the best of our knowledge, just other nine cases of HUVS with cardiac valvular involvement have been reported in the literature.

Case summary
A 32-year-old woman presented to the emergency department because of a cerebral haemorrhage. She suffered from a severe HUVS form with cardiac valvular involvement. In the previous years, she underwent cardiac surgery twice for aortic and mitral valves immune-mediated degeneration. The neurologic event was secondary to Listeria monocytogenes aortic endocarditis, complicated by a cerebral embolism and periaortic abscess.

Discussion
Patients with HUVS rarely present valvular heart disease. The latter is mostly secondary to an inflammatory process. Valve degeneration and immunosuppressive therapy increase the risk of infective endocarditis, with dramatic consequences for the prognosis of these patients. Valvular involvement is a sporadic but potentially fatal complication of HUVS, which should be taken in mind in the multidisciplinary evaluation of these patients.
Day-to-day measurement of physical activity and risk of atrial fibrillation
Authors: Bonnesen Mathias Pinto , Frodi Diana My , Haugan Ketil Jørgen , Kronborg Christian , Graff Claus , Højberg Søren , Køber Lars , Krieger Derk , Brandes Axel , Svendsen Jesper Hastrup , Diederichsen Søren Zöga 
Published: August 2021

Abstract

Aims
The aim of this study was to investigate the association between within-individual changes in physical activity and onset of atrial fibrillation (AF).

Methods and results
A total of 1410 participants from the general population (46.2% women, mean age 74.7 ± 4.1 years) with risk factors but with no prior AF diagnosis underwent continuous monitoring for AF episodes along with daily accelerometric assessment of physical activity using an implantable loop recorder during ≈3.5 years. The combined duration of monitoring was ≈1.6 million days, where 10 851 AF episodes lasting ≥60 min were detected in 361 participants (25.6%) with a median of 5 episodes (2, 25) each. The median daily physical activity was 112 (66, 168) min/day. A dynamic parameter describing within-individual changes in daily physical activity, i.e. average daily activity in the last week compared to the previous 100 days, was computed and used to model the onset of AF. A 1-h decrease in average daily physical activity was associated with AF onset the next day [odds ratio 1.24 (1.18–1.31)]. This effect was modified by overall level of activity (P &lt; 0.001 for interaction), and the signal was strongest in the tertile of participants with lowest activity overall [low: 1.62 (1.41–1.86), mid: 1.27 (1.16–1.39), and high: 1.10 (1.01–1.19)].

Conclusions
Within-individual changes in physical activity are associated with the onset of AF episodes as detected by continuous monitoring in a high-risk population. For each person, a 1-h decrease in daily physical activity during the last week increased the odds of AF onset the next day by ≈25%, while the strongest association was seen in the group with the lowest activity overall.

Clinical Trial Registration
ClinicalTrials.gov, identifier: NCT02036450.
Cardiac resynchronization therapy with or without defibrillator in patients with heart failure
Authors: Schrage Benedikt , Lund Lars H , Melin Michael , Benson Lina , Uijl Alicia , Dahlström Ulf , Braunschweig Frieder , Linde Cecilia , Savarese Gianluigi 
Published: August 2021

Abstract

Aims
Randomized data on the efficacy/safety of cardiac resynchronization therapy with vs. without defibrillator (CRT-D,-P) in heart failure with reduced ejection fraction (HFrEF) are scarce. We aimed to evaluate survival associated with use of CRT-D vs. CRT-P in a contemporary cohort with HFrEF.

Methods and results
Patients from Swedish HF Registry treated with CRT-D/CRT-P and fulfilling criteria for primary prevention defibrillator use were included. Logistic regression was used to evaluate predictors of CRT-D non-use. All-cause mortality was compared in CRT-D vs. CRT-P by Cox regression in a 1 : 1 propensity-score-matched cohort. Of 1988 patients with CRT, 1108 (56%) had CRT-D and 880 (44%) CRT-P. Older age, higher ejection fraction (EF), female sex, and the lack of referral to HF nurse-led outpatient clinic were major determinants of CRT-D non-use. After matching, 645 CRT-D patients were compared with 645 with CRT-P. The CRT-D use was associated with lower 1- and 3-year all-cause mortality [hazard ratio (HR):0.76, 95% confidence interval (CI):0.58–0.98; HR: 0.82, 95% CI: 0.68–0.99, respectively]. Results were consistent in all pre-specified subgroups except for CRT-D use being associated with lower 3-year mortality in patients with an EF &lt; 30% but not in those with an EF ≥ 30% (HR: 0.73, 95% CI: 0.59–0.89 and HR: 1.24, 95% CI: 0.83–1.85, respectively; P-interaction = 0.02).

Conclusion
In a contemporary HFrEF cohort, CRT-D was associated with lower mortality compared with CRT-P. The CRT-D use was less likely in older patients, females, and in patients not referred to HF nurse-led outpatient clinic. Our findings support the use of CRT-D vs. CRT-P in HFrEF, in particular with severely reduced EF.
Linking knowledge with action when engagement is out of reach: three contextual features of effective public health communication
Authors: Emmelhainz Roger , Zarychta Alan , Grillos Tara , Andersson Krister 
Published: August 2021

Abstract
Scholars and practitioners often promote direct engagement between policymakers, health workers and researchers as a strategy for overcoming barriers to utilizing scientific knowledge in health policy. However, in many settings public health officials rarely have opportunities to interact with researchers, which is a problem further exacerbated by the coronavirus disease 2019 pandemic. One prominent theory argues that policy actors will trust and utilize research findings when they perceive them to be salient, credible and legitimate. We draw on this theory to examine the conditions facilitating greater uptake of new knowledge among health officials when engagement is out of reach and they are instead exposed to new ideas through written mass communication. Using data from a survey experiment with about 260 health workers and administrators in Honduras, we find that messages from a technocratic sender based on statistical evidence improved perceptions of salience, credibility and legitimacy (SCL). Additionally, perceptions of SCL are three contextual features that operate as joint mediators between knowledge and action, and several individual characteristics also influence whether officials trust research findings enough to apply them when formulating and implementing health policies. This research can help inform the design of context-sensitive knowledge translation and exchange strategies to advance the goals of evidence-based public health, particularly in settings where direct engagement is difficult to achieve.
Myotonic dystrophy type 1 (DM1) clinical subtypes and CTCF site methylation status flanking the CTG expansion are mutant allele length-dependent
Authors: Morales Fernando , Corrales Eyleen , Zhang Baili , Vásquez Melissa , Santamaría-Ulloa Carolina , Quesada Hazel , Sirito Mario , Estecio Marcos R , Monckton Darren G , Krahe Ralf 
Published: August 2021

Abstract
Myotonic dystrophy type 1 (DM1) is a complex disease with a wide spectrum of symptoms. The exact relationship between mutant CTG repeat expansion size and clinical outcome remains unclear. DM1 congenital patients (CDM) inherit the largest expanded alleles, which are associated with abnormal and increased DNA methylation flanking the CTG repeat. However, DNA methylation at the DMPK locus remains understudied. Its relationship to DM1 clinical subtypes, expansion size and age-at-onset is not yet completely understood. Using pyrosequencing-based methylation analysis on 225 blood DNA samples from Costa Rican DM1 patients, we determined that the size of the estimated progenitor allele length (ePAL) is not only a good discriminator between CDM and non-CDM cases (with an estimated threshold at 653 CTG repeats), but also for all DM1 clinical subtypes. Secondly, increased methylation at both CTCF sites upstream and downstream of the expansion was almost exclusively present in CDM cases. Thirdly, levels of abnormal methylation were associated with clinical subtype, age and ePAL, with strong correlations between these variables. Fourthly, both ePAL and the intergenerational expansion size were significantly associated with methylation status. Finally, methylation status was associated with ePAL and maternal inheritance, with almost exclusively maternal transmission of CDM. In conclusion, increased DNA methylation at the CTCF sites flanking the DM1 expansion could be linked to ePAL, and both increased methylation and the ePAL could be considered biomarkers for the CDM phenotype.
Maternal education and cognitive development in 15 European very-preterm birth cohorts from the RECAP Preterm platform
Authors: Sentenac Mariane , Benhammou Valérie , Aden Ulrika , Ancel Pierre-Yves , Bakker Leonhard A , Bakoy Hannah , Barros Henrique , Baumann Nicole , Bilsteen Josephine Funck , Boerch Klaus , Croci Ileana , Cuttini Marina , Draper Elizabeth , Halvorsen Thomas , Johnson Samantha , Källén Karin , Land Tuuli , Lebeer Jo , Lehtonen Liisa , Maier Rolf F , Marlow Neil , Morgan Andrei , Ni Yanyan , Raikkonen Katri , Rtimi Anass , Sarrechia Iemke , Varendi Heili , Vollsaeter Maria , Wolke Dieter , Ylijoki Milla , Zeitlin Jennifer 
Published: August 2021

Abstract

Background
Studies are sparse and inconclusive about the association between maternal education and cognitive development among children born very preterm (VPT). Although this association is well established in the general population, questions remain about its magnitude among children born VPT whose risks of medical and developmental complications are high. We investigated the association of maternal education with cognitive outcomes in European VPT birth cohorts.

Methods
We used harmonized aggregated data from 15 population-based cohorts of children born at &lt;32 weeks of gestational age (GA) or &lt;1500 g from 1985 to 2013 in 13 countries with information on maternal education and assessments of general development at 2–3 years and/or intelligence quotients between 4 and 15 years. Term-born controls (≥37 weeks of GA) were available in eight cohorts. Maternal education was classified as: low (primary/lower secondary); medium (upper secondary/short tertiary); high (bachelor’s/higher). Pooled standardized mean differences (SMDs) in cognitive scores were estimated (reference: high educational level) for children assessed at ages 2–3, 4–7 and 8–15 years.

Results
The study included 10 145 VPT children from 12 cohorts at 2–3 years, 8829 from 12 cohorts at 4–7 years and 1865 children from 6 cohorts at 8–15 years. Children whose mothers had low, compared with high, educational attainment scored lower on cognitive measures [pooled unadjusted SMDs: 2–3 years = −0.32 (95% confidence intervals: −0.43 to −0.21); 4–7 years = −0.57 (−0.67; −0.47); 8–15 years = −0.54 (−0.72; −0.37)]. Analyses by GA subgroups (&lt;27 vs ≥27 weeks) in children without severe neonatal morbidity and term controls yielded similar results.

Conclusions
Across diverse settings and regardless of the degree of prematurity, low maternal education was associated with lower cognition.
Assessment of ceftolozane/tazobactam stability in elastomeric devices and suitability for continuous infusion via outpatient parenteral antimicrobial therapy
Authors: Jamieson Conor , Drummond Felicity , Hills Tim , Ozolina Laima , Gilchrist Mark , Seaton R Andrew , Santillo Mark , Wilkinson Alan-Shaun , Allwood Michael C 
Published: August 2021

Abstract

Objectives
To investigate the stability of ceftolozane/tazobactam 5 mg/mL and 20 mg/mL solutions for infusion in two elastomeric devices: FOLFusor LV10 (Baxter Healthcare) and Easypump® II (B. Braun Medical Ltd) and determine if an extended shelf life of up to 8 days storage at 2–8°C plus 24 h ‘in use’ at 32°C was achievable.

Methods
Testing was as per the latest NHS Pharmaceutical Quality Assurance Committee Yellow Cover Document (YCD) requirements. A stability-indicating LC method was used for assessing the stability of solutions of ceftolozane/tazobactam at 5 mg/mL and 20 mg/mL (combined concentration of both actives) respectively, tested in two batches in triplicate (n = 3) at five timepoints according to the requirements of the YCD.

Results
Ceftolozane/tazobactam, diluted in 0.9% w/v sodium chloride at 5 mg/mL and 20 mg/mL, degraded during in-use storage at 32°C with &lt;95% remaining after 18 h for some device/concentration combinations and all device/concentration combinations at 24 h, respectively. The data does support extended storage of up to 8 days at 2–8°C plus 12 h at 32°C ‘in-use’ when using either FOLFusor LV10 or Easypump® II devices and is compliant with YCD.

Conclusions
Solutions of ceftolozane/tazobactam can be administered in outpatient parenteral antimicrobial therapy (OPAT) services following refrigerated storage for up to 8 days, when limited to a 12 h infusion at in-use temperature of 32°C. For UK OPAT services where twice daily dosing is feasible, our data provides another treatment option for challenging infections. In countries where a 10% loss of ceftolozane/tazobactam is acceptable, a 24 h infusion is supported by the data.
Longitudinal Tracking of Extractable Nuclear Antigen (ENA) Antibodies in a Quaternary Hospital Laboratory Cohort Reveals Dynamic Antibody Profiles
Authors: Lee Adrian Y S , Brown David A , McDonald David , Lin Ming-Wei 
Published: August 2021

Abstract

Background
Antiextractable nuclear antigens (anti-ENAs) are regarded as diagnostic tests with no established value for serial monitoring. We therefore sought to establish the stability over time of anti-ENAs in a large diagnostic immunopathology laboratory.

Methods
A retrospective review of all patients who had a serial anti-ENA ordered at the Westmead Hospital (Sydney, Australia) was performed over 24 months. Anti-ENA characterization was performed using line immunoassay, and historical data were available from 2013 onward. The earliest available densitometry readings were compared with the latest available to examine for a change in quantitation or qualitative (serostatus) result (from negative to positive, and vice versa). Medical records were examined for clinical correlations.

Results
A total of 283 patients (24.1%) had serial testing of anti-ENA in the audit period, with each patient having an average of 3.9 ± 2.9 tests each. Most patients were diagnosed with systemic lupus erythematosus or primary Sjögren’s syndrome. About 25% and 58% of patients had a qualitative and quantitative change, respectively, in at least 1 anti-ENA in the study period. Changes in anti-ENA levels correlated with erythrocyte sedimentation rate and disease activity. Increasing duration between serial tests increased the probability of observing a change in anti-ENA levels.

Conclusion
Certain anti-ENAs are dynamic autoantibodies that may have significance for monitoring disease activity. Laboratories may consider reporting quantitative results. Further disease- and autoantibody-specific studies are required to determine the clinical significance of changes in anti-ENAs.
Development and validation of techniques for phenotyping ST-elevation myocardial infarction encounters from electronic health records
Authors: Somani Sulaiman , Yoffie Stephen , Teng Shelly , Havaldar Shreyas , Nadkarni Girish N , Zhao Shan , Glicksberg Benjamin S 
Published: August 2021

Abstract

Objectives
Classifying hospital admissions into various acute myocardial infarction phenotypes in electronic health records (EHRs) is a challenging task with strong research implications that remains unsolved. To our knowledge, this study is the first study to design and validate phenotyping algorithms using cardiac catheterizations to identify not only patients with a ST-elevation myocardial infarction (STEMI), but the specific encounter when it occurred.

Materials and Methods
We design and validate multi-modal algorithms to phenotype STEMI on a multicenter EHR containing 5.1 million patients and 115 million patient encounters by using discharge summaries, diagnosis codes, electrocardiography readings, and the presence of cardiac catheterizations on the encounter.

Results
We demonstrate that robustly phenotyping STEMIs by selecting discharge summaries containing “STEM” has the potential to capture the most number of STEMIs (positive predictive value [PPV] = 0.36, N = 2110), but that addition of a STEMI-related International Classification of Disease (ICD) code and cardiac catheterizations to these summaries yields the highest precision (PPV = 0.94, N = 952).

Discussion and Conclusion
In this study, we demonstrate that the incorporation of percutaneous coronary intervention increases the PPV for detecting STEMI-related patient encounters from the EHR.
Natural language processing for automated annotation of medication mentions in primary care visit conversations
Authors: Ganoe Craig H , Wu Weiyi , Barr Paul J , Haslett William , Dannenberg Michelle D , Bonasia Kyra L , Finora James C , Schoonmaker Jesse A , Onsando Wambui M , Ryan James , Elwyn Glyn , Bruce Martha L , Das Amar K , Hassanpour Saeed 
Published: August 2021

AbstractObjectivesThe objective of this study is to build and evaluate a natural language processing approach to identify medication mentions in primary care visit conversations between patients and physicians.Materials and MethodsEight clinicians contributed to a data set of 85 clinic visit transcripts, and 10 transcripts were randomly selected from this data set as a development set. Our approach utilizes Apache cTAKES and Unified Medical Language System controlled vocabulary to generate a list of medication candidates in the transcribed text and then performs multiple customized filters to exclude common false positives from this list while including some additional common mentions of the supplements and immunizations.ResultsSixty-five transcripts with 1121 medication mentions were randomly selected as an evaluation set. Our proposed method achieved an F-score of 85.0% for identifying the medication mentions in the test set, significantly outperforming existing medication information extraction systems for medical records with F-scores ranging from 42.9% to 68.9% on the same test set.DiscussionOur medication information extraction approach for primary care visit conversations showed promising results, extracting about 27% more medication mentions from our evaluation set while eliminating many false positives in comparison to existing baseline systems. We made our approach publicly available on the web as an open-source software.ConclusionIntegration of our annotation system with clinical recording applications has the potential to improve patients’ understanding and recall of key information from their clinic visits, and, in turn, to positively impact health outcomes.
Well-Being and Health
Authors: Kim Richard , Haybron Daniel M 
Published: August 2021

AbstractThis introduction to the special issue on well-being and health explores the ways that philosophical inquiry into well-being can play a productive role in understanding health and medicine. We offer an explanation of the concept of well-being, central theories of well-being, and how these key topics, along with other cutting-edge issues such as disability and cross-cultural reflections, can contribute to the discourse on the nature of health and medicine. We also provide brief overviews of the essays in this special issue and highlight the significant philosophical implications they have for understanding both well-being and health.
Can the Future-Like-Ours Argument Survive Ontological Scrutiny?
Authors: Adams Matthew , Rimell Nicholas 
Published: August 2021

Abstract
We argue that the future-like-ours argument against abortion rests on an important assumption. Namely, in the first trimester of an aborted pregnancy, there exists something that would have gone on to enjoy conscious mental states, had the abortion not occurred. To accommodate this assumption, we argue, a proponent of the future-like-ours argument must presuppose that there is ontic vagueness. We anticipate the objection that our argument achieves “too much” because it also applies mutatis mutandis to conscious humans. We respond by showing that an explanation can be given for why it is wrong to kill conscious humans that is independent of the underlying metaphysics. Our response brings into focus a reason why—at least in the context of an ethical argument like the future-like-ours argument—appeal to a highly controversial metaphysics is ad hoc. Such metaphysics is not necessary to explain the wrongness of killing conscious humans, only nonconscious fetuses.
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
Authors: Mobuchon Lenha , Derrien Anne-Céline , Houy Alexandre , Verrier Thibault , Pierron Gaëlle , Cassoux Nathalie , Milder Maud , Deleuze Jean-François , Boland Anne , Scelo Ghislaine , Cancel-Tassin Géraldine , Cussenot Olivier , Rodrigues Manuel , Noirel Josselin , Machiela Mitchell J , Stern Marc-Henri 
Published: August 2021

Abstract

Background
Uveal melanoma (UM), a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. UMs carrying a monosomy 3 (M3) frequently relapse mainly in the liver, whereas UMs with disomy 3 (D3) are associated with more favorable outcome. Here, we explored the UM genetic predisposition factors in a large genome-wide association study (GWAS) of 1142 European UM patients and 882 healthy controls .

Methods
We combined 2 independent datasets (Global Screening Array) with the dataset described in a previously published GWAS in UM (Omni5 array), which were imputed separately and subsequently merged. Patients were stratified according to their chromosome 3 status, and identified UM risk loci were tested for differential association with M3 or D3 subgroups. All statistical tests were 2-sided.

Results
We recapitulated the previously identified risk locus on chromosome 5 on CLPTM1L (rs421284: odds ratio [OR] =1.58, 95% confidence interval [CI] = 1.35 to 1.86; P = 1.98 × 10-8) and identified 2 additional risk loci involved in eye pigmentation: IRF4 locus on chromosome 6 (rs12203592: OR = 1.76, 95% CI = 1.44 to 2.16; P = 3.55 × 10-8) and HERC2 locus on chromosome 15 (rs12913832: OR= 0.57, 95% CI = 0.48 to 0.67; P = 1.88 × 10-11). The IRF4 rs12203592 single-nucleotide polymorphism was found to be exclusively associated with risk for the D3 UM subtype (ORD3 = 2.73, 95% CI = 1.87 to 3.97; P = 1.78 × 10-7), and the HERC2 rs12913832 single-nucleotide polymorphism was exclusively associated with risk for the M3 UM subtype (ORM3 = 2.43, 95% CI = 1.79 to 3.29; P = 1.13 × 10-8). However, the CLPTM1L risk locus was equally statistically significant in both subgroups.

Conclusions
This work identified 2 additional UM risk loci known for their role in pigmentation. Importantly, we demonstrate that UM tumor biology and metastatic potential are influenced by patients’ genetic backgrounds.