bluuebunny/crossref_metadata_2025_split huggingface dataset:
Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study
Authors: Wei Yuxia , Zhan Yiqiang , Löfvenborg Josefin E. , Tuomi Tiinamaija , Carlsson Sofia 
Published: May 2022

Abstract
Aims/hypothesis
Observational studies have found an increased risk of latent autoimmune diabetes in adults (LADA) associated with low birthweight and adult overweight/obese status. We aimed to investigate whether these associations are causal, using a two-sample Mendelian randomisation (MR) design. In addition, we compared results for LADA and type 2 diabetes.

Methods
We identified 43 SNPs acting through the fetal genome as instrumental variables (IVs) for own birthweight from a genome-wide association study (GWAS) of the Early Growth Genetics Consortium (EGG) and the UK Biobank. We identified 820 SNPs as IVs for adult BMI from a GWAS of the UK Biobank and the Genetic Investigation of ANthropometric Traits consortium (GIANT). Summary statistics for the associations between IVs and LADA were extracted from the only GWAS involving 2634 cases and 5947 population controls. We used the inverse-variance weighted (IVW) estimator as our primary analysis, supplemented by a series of sensitivity analyses.

Results
Genetically determined own birthweight was inversely associated with LADA (OR per SD [~500 g] decrease in birthweight 1.68 [95% CI 1.01, 2.82]). In contrast, genetically predicted BMI in adulthood was positively associated with LADA (OR per SD [~4.8 kg/m2] increase in BMI 1.40 [95% CI 1.14, 1.71]). Robust results were obtained in a range of sensitivity analyses using other MR estimators or excluding some IVs. With respect to type 2 diabetes, the association with birthweight was not stronger than in LADA while the association with adult BMI was stronger than in LADA.

Conclusions/ interpretation
This study provides genetic support for a causal link between low birthweight, adult overweight/obese status and LADA.

Graphical abstract
Using AI and ML to optimize information discovery in under-utilized, Holocaust-related records
Authors: Carter Kirsten Strigel , Gondek Abby , Underwood William , Randby Teddy , Marciano Richard 
Published: May 2022

AbstractDigital cultural assets are often thought to exist in separate spheres based on their two principal points of origin: digitized and born digital. Increasingly, advances in digital curation are blurring this dichotomy, by introducing so-called “collections as data,” which regardless of their origination make cultural assets more amenable to the application of new computational tools and methodologies. This paper brings together archivists, scholars, and technologists to demonstrate computational treatments of digital cultural assets using Artificial Intelligence (AI) and Machine Learning (ML) techniques that can help unlock hard-to-reach archival content. It describes an extended, iterative study applied to digitized and datafied WWII-era records housed at the FDR Presidential Library, rich content that is regrettably under-utilized by scholars examining American responses to the Holocaust. Authors detail the benefits of interdisciplinary collaboration for evaluating user needs, identifying and applying tools and methodologies (including ML through object detection and AI through Named Entity Recognition or NER), and reaching the real-world outcome of public access to augmented data. They also discuss issues of digital representation, relational context, and interface design to enable new modes of public and scholarly access. While based on a case study, we believe that this work is a substantial contribution to revealing the strengths and weaknesses of using AI/ML systems in cultural organizations. We give particular care to lessons learned, and generalize the approach taken across broad classes of collections with a focus on responsive iterations, reproducibility, and the relevance of data and its structures to users.
Fine mapping and candidate gene analysis of a dravet syndrome modifier locus on mouse chromosome 11
Authors: Kearney Jennifer A. , Copeland-Hardin Letonia D. , Duarte Samantha , Zachwieja Nicole A. , Eckart-Frank Isaiah K. , Hawkins Nicole A. 
Published: May 2022

AbstractPathogenic variants in SCN1A result in a spectrum of phenotypes ranging from mild febrile seizures to Dravet syndrome, a severe infant-onset epileptic encephalopathy. Individuals with Dravet syndrome have developmental delays, elevated risk for sudden unexpected death in epilepsy (SUDEP), and have multiple seizure types that are often refractory to treatment. Although most Dravet syndrome variants arise de novo, there are cases where an SCN1A variant was inherited from mildly affected parents, as well as some individuals with de novo loss-of-function or truncation mutations that presented with milder phenotypes. This suggests that disease severity is influenced by other factors that modify expressivity of the primary mutation, which likely includes genetic modifiers. Consistent with this, the Scn1a+/− mouse model of Dravet syndrome exhibits strain-dependent variable phenotype severity. Scn1a+/− mice on the 129S6/SvEvTac (129) strain have no overt phenotype and a normal lifespan, while [C57BL/6Jx129]F1.Scn1a+/− mice have severe epilepsy with high rates of premature death. Low resolution genetic mapping identified several Dravet syndrome modifier (Dsm) loci responsible for the strain-dependent difference in survival of Scn1a+/− mice. To confirm the Dsm5 locus and refine its position, we generated interval-specific congenic strains carrying 129-derived chromosome 11 alleles on the C57BL/6J strain and localized Dsm5 to a 5.9 Mb minimal region. We then performed candidate gene analysis in the modifier region. Consideration of brain-expressed genes with expression or coding sequence differences between strains along with gene function suggested numerous strong candidates, including several protein coding genes and two miRNAs that may regulate Scn1a transcript.
Super Graphs on Groups, I
Authors: Arunkumar G. , Cameron Peter J. , Nath Rajat Kanti , Selvaganesh Lavanya 
Published: May 2022

AbstractLet G be a finite group. A number of graphs with the vertex set G have been studied, including the power graph, enhanced power graph, and commuting graph. These graphs form a hierarchy under the inclusion of edge sets, and it is useful to study them together. In addition, several authors have considered modifying the definition of these graphs by choosing a natural equivalence relation on the group such as equality, conjugacy, or equal orders, and joining two elements if there are elements in their equivalence class that are adjacent in the original graph. In this way, we enlarge the hierarchy into a second dimension. Using the three graph types and three equivalence relations mentioned gives nine graphs, of which in general only two coincide; we find conditions on the group for some other pairs to be equal. These often define interesting classes of groups, such as EPPO groups, 2-Engel groups, and Dedekind groups. We study some properties of graphs in this new hierarchy. In particular, we characterize the groups for which the graphs are complete, and in most cases, we characterize the dominant vertices (those joined to all others). Also, we give some results about universality, perfectness, and clique number.
Deferral of non-emergency cardiac procedures is associated with increased early emergency cardiovascular hospitalizations
Authors: Andreß Stefanie , Stephan Tilman , Felbel Dominik , Mack Alex , Baumhardt Michael , Kersten Johannes , Buckert Dominik , Pott Alexander , Dahme Tillman , Rottbauer Wolfgang , Imhof Armin , Rattka Manuel 
Published: May 2022

Abstract
Background
During the COVID-19 pandemic, in anticipation of a demand surge for high-care hospital beds, many hospitals postponed non-emergency interventions of cardiac patients.

Aim
The aim of this study was to assess the outcomes of cardiac patients whose non-emergency interventions had been deferred during the COVID-19 pandemic.

Methods
Patients whose non-emergency cardiac intervention had been cancelled between March 19th and April 30th, 2020 were included (study group). All patients were considered as deferrable according to current recommendations. Patients’ outcomes after 12 months were compared to a seasonal control group who underwent non-emergency interventions in 2019 as scheduled. The primary endpoint was a composite of emergency cardiovascular hospitalization and death. Secondary endpoints were levels of symptoms and cardiac biomarkers.

Results
Outcomes of 193 consecutive patients in the study group were assessed and compared to 216 controls. The primary endpoint occurred significantly more often in the study group (HR 2.42, 95%CI 1.63–3.61, p < 0.001). This was driven by an increase in hospitalizations. Subgroup analyses showed that especially patients with a deferred transcatheter heart valve intervention experienced early emergency hospitalization (HR 9.55, 95%CI 3.70–24.62, p < 0.001). These findings were accompanied by more pronounced symptoms and higher biomarker levels.

Conclusions
Deferral of non-emergency cardiac interventions to meet the higher demand for hospital beds during the COVID-19 crisis is associated with early emergency cardiovascular hospitalizations. Patients suffering from valvular heart disease especially constitute a vulnerable group. Consequently, our results suggest that current recommendations on the management of cardiovascular disease during the COVID-19 pandemic need revision.

Graphical abstract
Systematic literature review of the epidemiology of glyphosate and neurological outcomes
Authors: Chang Ellen T. , Odo Nnaemeka U. , Acquavella John F. 
Published: May 2022

Abstract
Purpose
Human health risk assessments of glyphosate have focused on animal toxicology data for determining neurotoxic potential. Human epidemiological studies have not yet been systematically reviewed for glyphosate neurotoxicity hazard identification. The objective of this systematic literature review was to summarize the available epidemiology of glyphosate exposure and neurological outcomes in humans.

Methods
As of December 2021, 25 eligible epidemiological studies of glyphosate exposure and neurological endpoints were identified and assessed for five quality dimensions using guidance from the U.S. Environmental Protection Agency. Studies that assessed personal use of glyphosate were prioritized, whereas those assessing indirect exposure (other than personal use) were rated as low quality, since biomonitoring data indicate that indirect metrics of glyphosate exposure almost always equate to non-detectable glyphosate doses.

Results
Overall, the scientific evidence on glyphosate and neurotoxicity in humans is sparse and methodologically limited, based on nine included epidemiological studies of neurodegenerative outcomes (two high quality), five studies of neurobehavioral outcomes (two high quality), six studies of neurodevelopmental outcomes (none high quality), and five studies of other and mixed neurological outcomes (one high quality). The five high-quality studies showed no association between glyphosate use and risk of depression, Parkinson disease, or peripheral nerve conduction velocity. Results were mixed among the eight moderate-quality studies, which did not demonstrate consistent associations with any neurological endpoints or categories. Low-quality studies were considered uninformative about possible neurotoxic effects due primarily to questionable assessments of indirect exposure.

Conclusions
No association has been demonstrated between glyphosate and any neurological outcomes in humans. To move the state of science forward, epidemiological studies should focus on scenarios involving direct and frequent use of glyphosate while collecting information on validated health outcomes, concomitant agricultural exposures, and relevant personal characteristics.
Feasibility, efficacy, and cautionary note of endoscopic resection for gastric tube cancer after esophagectomy
Authors: Inokuchi Yasuhiro , Watanabe Mamoru , Hayashi Kei , Kaneta Yoshihiro , Furuta Mitsuhiro , Machida Nozomu , Maeda Shin 
Published: May 2022

Abstract
Background
Gastric tube cancer (GTC), whose usual histology is adenocarcinoma, occurs frequently as a result of improved survival after esophagectomy. Whether endoscopic resection (ER) for GTC is safe and suitable and guidelines for treatment and follow-up remains unclear.

Methods
Patients with GTC who underwent ER at Kanagawa Cancer Center Hospital between 1997 and 2020 were studied retrospectively to evaluate clinical characteristics and short- and long-term outcomes.

Results
Twenty-two consecutive patients with 43 lesions were treated in 42 sessions of ER. Lesions were discovered at a median of 9.0 (0–21.8) years after esophageal surgery. Nine (40.9%) patients had multiple lesions at the time of the initial ER session. However, six (54.5%) of the 11 co-existing lesions were overlooked. The location of the middle third was an estimated risk factor for overlooking (p = 0.028). In endoscopic submucosal dissection (ESD) cases, the en bloc dissection rate was as high as 97.1%, and the rates of bleeding, perforation, and aspiration pneumonitis were 17.6%, 0%, and 2.9%, respectively. The bleeding rate was relatively higher than that in usual gastric ESD. Twelve patients (54.5%) experienced synchronous and/or metachronous multiple GTCs during their life span. Thirteen (61.9%) patients died during the median follow-up period of 5.9 (0.7–15.5) years. One patient (7.7%) died of GTC recurrence, 15.4 years after the initial non-curative ER date; 3 (23.1%) patients died of esophageal cancer recurrence, and 3 (23.1%) died of other organ malignancies. The 5-year overall survival rate was 85.0%, and the 5-year disease-specific survival rate was 100%.

Conclusions
ER is feasible for GTCs. However, the rate of bleeding was high in ESD cases. Life-long endoscopic screening of metachronous lesions is desirable. Care should be taken not to overlook lesions in the middle third of the gastric tube. Early detection of esophageal cancer recurrence and other organ malignancies may improve prognosis.
Prevalence of scoliosis and impaired pulmonary function in patients with type III osteogenesis imperfecta
Authors: Keuning M. C. , Leeuwerke S. J. G. , van Dijk P. R. , Harsevoort A. G. J. , Grotjohan H. P. , Franken A. A. M. , Janus G. J. M. 
Published: May 2022

Abstract
Purpose
Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.

Methods
This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior–posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.

Results
All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β − 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.

Conclusions
Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI.
Neurovascular and infectious disease phenotype of acute stroke patients with and without COVID-19
Authors: Beretta Simone , Iannuzzi Francesca , Diamanti Susanna , Bianchi Elisa , D’Urbano Luca , Elisa Colella , Rugova Alban , Morotti Colleoni Carlo , Beghi Ettore , Bonfanti Paolo , Ferrarese Carlo 
Published: May 2022

Abstract

Background
The infectious disease phenotype of acute stroke associated with COVID-19 has been poorly characterized.

Objective
We investigated the neurovascular and infectious disease phenotype of stroke patients with and without COVID-19 infection, and their effect on in-hospital mortality.

Methods
This is a retrospective cohort study of consecutive patients with acute stroke, admitted to any ward of a hub hospital for stroke in Lombardy, Italy, during the first wave of COVID-19. Demographic, neurovascular, infectious disease, and respiratory characteristics were collected. The effect of clinical variables on survival was evaluated using logistic regression models.

Results
One hundred thirty-seven patients with acute stroke were recruited; 30 (21.9%) patients had COVID-19 and represented 2.5% of the 1218 COVID-19 patients hospitalized in the study period. Demographics, comorbidities, stroke type, stroke severity, and etiology did not differ between COVID + stroke patients and non-COVID stroke patients, except for an excess of multi-embolic ischemic stroke in the COVID + group. Most COVID + stroke patients had symptomatic infection (60%) and interstitial pneumonia (70%). COVID + stroke patients required more frequently respiratory support (77% versus 29%; p < 0.0001) and had higher in-hospital mortality (40% versus 12%; p = 0.0005) than non-COVID stroke patients. Mortality was independently associated with symptomatic interstitial pneumonia (aOR 6.7; 95% CI 2.0–22.5; p = 0.002) and, to a lesser extent, with NIHSS on admission (aOR 1.1; 95% CI 1.03–1.2; p = 0.007) and recanalization therapies (aOR 0.2; 95% CI 0.04–0.98; p = 0.046).

Conclusion
Symptomatic interstitial pneumonia was the major driver of in-hospital mortality in COVID + stroke patients.
What Can Educational Psychology Learn From, and Contribute to, Theory Development Scholarship?
Authors: Greene Jeffrey A. 
Published: May 2022

AbstractOne of the field of psychology’s stated goals is to produce scholarship with findings that benefit the world. Over the last 10 years, psychology scholarship and its presumed societal benefits have been called into question due to the field’s history of questionable research practices, racism, and epistemic oppression. Calls for methodological, ethical, and practical reforms are essential to building a psychological science that is just, effective, reliable, and beneficial. Recently, these calls have been complemented by a push to reform how theory is developed and used in psychology. There is great need for better understanding and implementation of theory development, both in the field of psychology broadly as well as in its subdisciplines, including educational psychology. At the same time, educational psychologists have much to contribute to the tripartite calls for methodological, ethical, and theory reforms. In this paper, I explore theory development in psychology by discussing the importance of developing both the descriptive and explanatory aspects of theory as well as the need to refine how theory is evaluated and integrated. Then, I review how innovations and practices in educational psychology can inform the broader theory reform movement in psychology writ large. Finally, I identify important future directions for further advancing theory reform in psychology, including addressing ableism in the field, increasing the field’s hospitability for theory revision, furthering theory development transparency, and more deeply integrating theory development into preparation programs.
Use of AERONET-OC for validation of SGLI/GCOM-C products in Ariake Sea, Japan
Authors: Ishizaka Joji , Yang Mengmeng , Fujii Naoki , Katano Toshiya , Hori Masahiro , Mine Takayuki , Saitoh Katsuya , Murakami Hiroshi 
Published: May 2022

AbstractA station of AErosol RObotic NETwork Ocean Color (AERONET-OC) has been set on the Ariake Observation Tower of Saga University on April, 2018, for verification of the Second generation Global Imager (SGLI)/Global Change Observation Mission-Climate (GCOM-C). Remote sensing reflectance (Rrs) observed by the AERONET-OC was used for verification of SGLI. SGLI Version 1 data underestimated the shortwave Rrs and Rrs (380) and Rrs(412) were mostly negative, while the estimation was improved by Version 2 with the correction of Rrs(412) to be positive. It was indicated that absorptive aerosol was influenced to SGLI atmospheric correction and caused the underestimation of Rrs. Simple linear correction method to improve shortwave Rrs also worked well for specifically Version 1 data. Water constituents, chlorophyll-a (Chl-a), total suspended matter (TSM) and colored dissolved organic matter (CDOM) of the SGLI were also verified by the ship observation data. All constituents were improved from Version 1 to 2 with the correction of Rrs, although Version 2 underestimated Chl-a and CDOM. Simple regression algorithms were also examined with in situ as well as SGLI Rrs data, and it indicated that more sophisticated algorithms may be required. Time series of water constituents derived from AERONET-OC and SGLI data were compared to river discharge and spring–neap tidal cycle. The results indicated that the behavior, such as the increase of Chl-a after river discharge and interaction of Chl-a and TSM with the spring–neap tidal cycles were observed, although estimations of water constituents were not completely separated by the algorithms.
Medicines prescribing for homeless persons: analysis of prescription data from specialist homelessness general practices
Authors: Khan Aleena , Kurmi Om , Lowrie Richard , Khanal Saval , Paudyal Vibhu 
Published: May 2022

Abstract
Background
Specialist homelessness practices remain the main primary care access point for many persons experiencing homelessness. Prescribing practices are poorly understood in this population.

Objective
This study aims to investigate prescribing of medicines to homeless persons who present to specialist homelessness primary care practices and compares the data with the general population.

Setting
Analyses of publicly available prescribing and demographics data pertaining to primary care in England.

Methods
Prescribing data from 15 specialist homelessness practices in England were extracted for the period 04/2019-03/2020 and compared with data from (a) general populations, (b) the most deprived populations, and (c) the least deprived populations in England.

Main outcome measure
Prescribing rates, measured as the number of items/1000 population in key disease areas.

Results
Data corresponding to 20,572 homeless persons was included. Marked disparity were observed in regards to prescribing rates of drugs for Central Nervous System disorders. For example, prescribing rates were 83-fold (mean (SD) 1296.7(1447.6) vs. 15.7(9.2) p = 0.033) items), and 12-fold (p = 0.018) higher amongst homeless populations for opioid dependence and psychosis disorders respectively compared to the general populations. Differences with populations in the least deprived populations were even higher. Prescribing medicines for other long-term conditions other than mental health and substance misuse was lower in the homeless than in the general population.

Conclusions
Most of the prescribing activities in the homeless population relate to mental health conditions and substance misuse. It is possible that other long-term conditions that overlap with homelessness are under-diagnosed and under-managed. Wide variations in data across practices needs investigation.