bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart
Authors: Auxerre-Plantié Emilie , Nielsen Tanja , Grunert Marcel , Olejniczak Olga , Perrot Andreas , Özcelik Cemil , Harries Dennis , Matinmehr Faramarz , Dos Remedios Cristobal , Mühlfeld Christian , Kraft Theresia , Bodmer Rolf , Vogler Georg , Sperling Silke R. 
Published: October 2020

ABSTRACT
The causal genetic underpinnings of congenital heart diseases, which are often complex and multigenic, are still far from understood. Moreover, there are also predominantly monogenic heart defects, such as cardiomyopathies, with known disease genes for the majority of cases. In this study, we identified mutations in myomesin 2 (MYOM2) in patients with Tetralogy of Fallot (TOF), the most common cyanotic heart malformation, as well as in patients with hypertrophic cardiomyopathy (HCM), who do not exhibit any mutations in the known disease genes. MYOM2 is a major component of the myofibrillar M-band of the sarcomere, and a hub gene within interactions of sarcomere genes. We show that patient-derived cardiomyocytes exhibit myofibrillar disarray and reduced passive force with increasing sarcomere lengths. Moreover, our comprehensive functional analyses in the Drosophila animal model reveal that the so far uncharacterized fly gene CG14964 [herein referred to as Drosophila myomesin and myosin binding protein (dMnM)] may be an ortholog of MYOM2, as well as other myosin binding proteins. Its partial loss of function or moderate cardiac knockdown results in cardiac dilation, whereas more severely reduced function causes a constricted phenotype and an increase in sarcomere myosin protein. Moreover, compound heterozygous combinations of CG14964 and the sarcomere gene Mhc (MYH6/7) exhibited synergistic genetic interactions. In summary, our results suggest that MYOM2 not only plays a critical role in maintaining robust heart function but may also be a candidate gene for heart diseases such as HCM and TOF, as it is clearly involved in the development of the heart.
This article has an associated First Person interview with Emilie Auxerre-Plantié and Tanja Nielsen, joint first authors of the paper.
Neuro-schistosomiasis with palm tree contrast enhancement pattern, a report of three cases, and review of literature
Authors: El Beltagi Ahmed , Salem Khalid , Hanoun Mohamed 
Published: October 2020

We describe three cases of neuroschistosomiasis, two cases with cerebral schistosomiasis due to Schistosoma japonicum, with multiple pseudotumoral lesions presented with seizures and hemiparesis respectively, and a spinal cord conus medullaris schistosomiasis due to Schistosoma mansoni presented with conus medullaris syndrome. In the two cases with cerebral schistosomiasis imaging with CT revealed multiple areas of brain edema, and gyriform calcifications in both cerebral hemispheres, which suggested cerebral parasitemia, chronic venous hypertension, multifocal cerebral vascular malformation, or a forme fruste Sturge Weber syndrome. Further MRI revealed corresponding blooming, T2W (weighted) -FLAIR (fluid attenuated inversion recovery) ibright signal intensity and enhancing lesions. In the third case with spinal cord involvement MRI revealed signal abnormality on T1W and T2W images with patchy and punctate post i.v. contrast enhancement of the conus medullaris. Excision biopsy and histopathological examination were undertaken for the first brain case and spinal cord case and showed multiple schistosomal granulomas in different evolution phases. In the second brain case, the diagnosis was suggested based on our experience with prior cases, positive laboratory tests, and urinary bladder wall biopsy. Neuroschistosomiasis must be considered in the differential diagnosis of multiple cerebral calcifications, and multiple nodular and linear like lesions with characteristic arborized enhancement pattern, especially for patients coming from endemic areas for Schistosomiasis.
Transcutaneous bilirubin level to predict hyperbilirubinemia in preterm neonates
Authors: Rahmawati Dewi , Sampurna Mahendra Tri Arif , Etika Risa , Utomo Martono Tri , Bos Arend F. 
Published: October 2020

Background: Hyperbilirubinemia commonly occurs in neonates, with a higher prevalence among preterm neonates, which can lead to severe hyperbilirubinemia. Assessment of total serum bilirubin (TSB) and the use of transcutaneous bilirubinometry (TcB) are existing methods which can identify and predict hyperbilirubinemia. This study aimed to determine TcB cut-off values during the first day for preterm neonates, in order to predict hyperbilirubinemia at 48 and 72 hours. Methods: This cohort study was conducted at Dr. Soetomo General Hospital from September 2018 to January 2019, studying a total of 90 neonates born at ≤35 weeks. They were divided into two groups (Group I: 1000-1500 grams; Group II: 1501-2000 grams). The bilirubin levels were measured at the sternum, using TcB at the ages of 12, 24, and 72 hours. TSB measurements were taken on the third day or if the TcB level reached phototherapy threshold ± 1.24 mg/dL and if TcB showed abnormal results (Group I: 5.76-8.24 mg/dL; Group II: 8.76-11.24 mg/dL). Hyperbilirubinemia was defined as TSB ≥7 mg/dL for Group I and >10 mg/dL for Group II. Results: In total, 38 Group I neonates and 48 Group II neonates were observed. Approximately onehalf of the neonates in Group I (45%) suffered from hyperbilirubinemia at 48 hours, along with 46% of Group II at 72 hours. The best 24-hour-old TcB cut-off values to predict hyperbilirubinemia at 48 hours were calculated to be 4.5 mg/dL for Group I and 5.8 mg/dL for Group II. The determined 24-hour-old TcB value to predict hyperbilirubinemia at 72 hours was 5.15 mg/dL for Group II. Conclusion: TcB values on the first day of life can be used as hyperbilirubinemia predictors on the following days for preterm neonates. Close monitoring should be managed for those with TcB values higher than the calculated cut-off values.
HPAStainR: a Bioconductor and Shiny app to query protein expression patterns in the Human Protein Atlas
Authors: Nieuwenhuis Tim O. , Halushka Marc K. 
Published: October 2020

The Human Protein Atlas is a website of protein expression in human tissues. It is an excellent resource of tissue and cell type protein localization, but only allows the query of a single protein at a time. We introduce HPAStainR as a new Shiny app and Bioconductor/R package used to query the scored staining patterns in the Human Protein Atlas with multiple proteins/genes of interest. This allows the user to determine if an experimentally-generated protein/gene list associates with a particular cell type. We validated the tool using the Panglao Database cell type specific marker genes and a Genotype Expression (GTEx) tissue deconvolution dataset. HPAStainR identified 92% of the Panglao cell types in the top quartile of confidence scores limited to tissue type of origin results. It also appropriately identified the correct cell types from the GTEx dataset. HPAStainR fills a gap in available bioinformatics tools to identify cell type protein expression patterns and can assist in establishing ground truths and exploratory analysis. HPAStainR is available from:https://32tim32.shinyapps.io/HPAStainR/
Covid-19 Estimating the burden of symptomatic disease in the community and the impact of public health measures on physical, mental and social wellbeing: a study protocol
Authors: Troya M. Isabela , Khashan Ali , Kearney Patricia M. , Arensman Ella , Hoevel Philipp , Buckley Claire , Fitzgerald Margaret , Humphries Rory , Kiely Elizabeth , Mulchrone Kieran , Murphy Mike , O'Connor Lois , O'Donnell Joan , O’Reilly Eilis , O'Riordain Micheal , Spillane Mary , Wieczorek Sebastian , Perry Ivan J 
Published: October 2020

Introduction: Covid-19 was declared a pandemic in March 2020. Since then, governments have implemented unprecedented public health measures to contain the virus. This study will provide evidence to inform responses to the pandemic by: i) estimating population prevalence and trends of self-reported symptoms of Covid-19 and the proportions of symptomatic individuals and household contacts testing positive for Covid-19; ii) describing acceptance and compliance with physical-distancing measures, explore effects of public health measures on physical, mental and social wellbeing; iii) developing a mathematical network model to inform decisions on the optimal levels of physical distancing measures. Methods: Two cross-sectional nationally-representative telephone surveys will be conducted in Ireland using random digit-dialling, with response rates estimates based on proportion of non-operational and non-answering numbers. The first survey with four waves in May and June will address adherence to social distancing measures and whether the respondent or other household members are or have been unwell during the preceding two weeks with one or more symptoms of Covid-19. The second survey with three waves in June, July and September will address knowledge, attitudes, and compliance towards physical-distancing measures and physical, mental and social wellbeing. The mathematical network model will be developed for all-Ireland (on various levels of spatial granularity including the scale of counties and electoral divisions) based on outputs from both cross-sectional surveys and relevant publicly available data to inform decisions on optimal levels and duration of physical distancing measures. Discussion: This study will contribute to our understanding of the impact and sustainability of public health measures of the Covid-19 pandemic. Findings will have long-lasting benefits, informing decision-making on the best levels, and duration of physical-distancing measures, balancing a range of factors including capacity of the health service with the effects on individuals’ wellbeing and economic disruption. Findings will be shared with key policy-makers.
Prevalence and patterns of multi-morbidity in the productive age group of 30-69 years: A cross-sectional study in Pathanamthitta District, Kerala.
Authors: C Rohini , Jeemon Panniyammakal 
Published: October 2020

Background: Multi-morbidity is the coexistence of multiple chronic conditions in individuals and families. With advancing epidemiological and demographic transitions, the burden of multi-morbidity is expected to increase India. Methods: A cross-sectional representative survey was conducted among 410 participants aged 30-69 years in Pathanamthitta District, Kerala. A multi-stage cluster sampling method was employed to identify households for the survey. We interviewed all eligible participants in the selected households. A structured interview schedule was used to assess socio-demographic variables, behavioral risk factors and prevailing clinical conditions. We used the PHQ-9 questionnaire for depression screening. Further, we conducted active measurements of both blood sugar and blood pressure. Multiple logistic regression was used to identify variables associated with multi-morbidity. Results: Overall, the prevalence of multi-morbidity was 45.4% (95% CI: 40.5-50.3%). Nearly a quarter of the study participants (25.4%) reported only one chronic condition (21.3-29.9%). Further, 30.7% (26.3-35.5), 10.7% (7.9-14.2), 3.7% (2.1-6.0) and 0.2% reported two, three, four and five chronic conditions, respectively. At least one person with multi-morbidity was present in around seven out of ten households (72%, 95% CI: 65-78%). Further, one in five households (22%, 95% CI: 16.7-28.9%) reported more than one person with multi-morbidity. Diabetes and hypertension was the most frequent dyad (30.9%, 95% CI: 26.5-35.7%), followed by hypertension and depression (7.8%, 95% CI: 5.5-10.9%). Diabetes, hypertension and ischemic heart disease was the common triad in males (8.5%, 95% CI: 4.8-14.1%), while it was diabetes, hypertension and depression (6.9%, 95% CI: 4.2-11.1%) in females. Age, sex, and employment status were associated with multi-morbidity. Conclusion: Multi-morbidity is prevalent in one of two participants in the productive age group of 30-69 years. Further, seven of ten households have at least one person with multi-morbidity. The high burden of multi-morbidity calls for integrated preventive and management strategies for multiple chronic conditions.
Conflict-Driven Heuristics for Mixed Integer Programming
Authors: Witzig Jakob , Gleixner Ambros 
Published: October 2020

Two essential ingredients of modern mixed-integer programming solvers are diving heuristics, which simulate a partial depth-first search in a branch-and-bound tree, and conflict analysis, which learns valid constraints from infeasible subproblems. So far, these techniques have mostly been studied independently: primal heuristics for finding high-quality feasible solutions early during the solving process and conflict analysis for fathoming nodes of the search tree and improving the dual bound. In this paper, we pose the question of whether and how the orthogonal goals of proving infeasibility and generating improving solutions can be pursued in a combined manner such that a state-of-the-art solver can benefit. To do so, we integrate both concepts in two different ways. First, we develop a diving heuristic that simultaneously targets the generation of valid conflict constraints from the Farkas dual and the generation of improving solutions. We show that, in the primal, this is equivalent to the optimistic strategy of diving toward the best bound with respect to the objective function. Second, we use information derived from conflict analysis to enhance the search of a diving heuristic akin to classic coefficient diving. In a detailed computational study, both methods are evaluated on the basis of an implementation in the source-open-solver SCIP. The experimental results underline the potential of combining both diving heuristics and conflict analysis.Summary of Contribution. This original article concerns the advancement of exact general-purpose algorithms for solving one of the largest and most prominent problem classes in optimization, mixed-integer linear programs. It demonstrates how methods for conflict analysis that learn from infeasible subproblems can be combined successfully with diving heuristics that aim at finding primal solutions. For two newly designed diving heuristics, this paper features a thoroughly computational study regarding their impact on the overall performance of a state-of-the-art MIP solver.
Going All City: Struggle and Survival in LA’s Graffiti Subculture, Stefano Bloch (2020)
Authors: Ross Jeffrey Ian 
Published: October 2020

Review of: Going All City: Struggle and Survival in LA’s Graffiti Subculture, Stefano Bloch (2020)
Chicago, IL: University of Chicago Press, 240 pp.,
ISBN 978-0-22649-358-9, p/bk, $11.49
On a conjecture of Pappas and Rapoport about the standard local model for GL_
d
Authors: Muthiah Dinakar , Weekes Alex , Yacobi Oded 
Published: October 2020

Abstract
In their study of local models of Shimura varieties for totally ramified extensions, Pappas and Rapoport posed a conjecture about the reducedness of a certain subscheme of

n
×
n

{n\times n}

matrices. We give a positive answer to their conjecture in full generality. Our main ideas follow naturally from two of our previous works. The first is our proof of a conjecture of Kreiman, Lakshmibai, Magyar, and Weyman on the equations defining type A affine Grassmannians. The second is the work of the first two authors and Kamnitzer on affine Grassmannian slices and their reduced scheme structure. We also present a version of our argument that is almost completely elementary: the only non-elementary ingredient is the Frobenius splitting of Schubert varieties.
Sengende Hitze, Eiseskälte oder Mond? Zum Echo zoroastrischer eschatologischer Vorstellungen am Beispiel des koranischen zamharīr
Authors: Bitsch Sebastian 
Published: October 2020

Abstract
This article discusses eventual Qurʾānic allusions to Zoroastrian texts by using the example of zamharīr (Q 76:13). In the early tafsīr and ḥadīth-literature the term is most commonly understood as a piercing cold, which has frequently been interpreted as a punishment in hell. This idea, it is argued, has significant parallels to the concept of cold as a punishment in hell or to the absence of cold as a characteristic of paradise in the Avestan and Middle-Persian literature. In addition, Christian and Jewish texts that emphasize a similar idea and have not been discussed in research so far are brought into consideration. The article thus aims to contribute to the inclusion of Zoroastrian texts in locating the genesis of the Qurʾān – or early Islamic exegesis – in the “epistemic space ” of late antiquity.
Genome-Wide Association Study Reveals the Genetic Architecture of Seed Vigor in Oats
Authors: Huang Ching-Ting , Klos Kathy Esvelt , Huang Yung-Fen 
Published: October 2020

AbstractSeed vigor is crucial for crop early establishment in the field and is particularly important for forage crop production. Oat (Avena sativa L.) is a nutritious food crop and also a valuable forage crop. However, little is known about the genetics of seed vigor in oats. To investigate seed vigor-related traits and their genetic architecture in oats, we developed an easy-to-implement image-based phenotyping pipeline and applied it to 650 elite oat lines from the Collaborative Oat Research Enterprise (CORE). Root number, root surface area, and shoot length were measured in two replicates. Variables such as growth rate were derived. Using a genome-wide association (GWA) approach, we identified 34 and 16 unique loci associated with root traits and shoot traits, respectively, which corresponded to 41 and 16 unique SNPs at a false discovery rate &lt; 0.1. Nine root-associated loci were organized into four sets of homeologous regions, while nine shoot-associated loci were organized into three sets of homeologous regions. The context sequences of five trait-associated markers matched to the sequences of rice, Brachypodium and maize (E-value &lt; 10−10), including three markers matched to known gene models with potential involvement in seed vigor. These were a glucuronosyltransferase, a mitochondrial carrier protein domain containing protein, and an iron-sulfur cluster protein. This study presents the first GWA study on oat seed vigor and data of this study can provide guidelines and foundation for further investigations.
Loss of Pseudouridine Synthases in the RluA Family Causes Hypersensitive Nociception inDrosophila
Authors: Song Wan , Ressl Susanne , Tracey W Daniel 
Published: October 2020

AbstractNociceptive neurons of Drosophila melanogaster larvae are characterized by highly branched dendritic processes whose proper morphogenesis relies on a large number of RNA-binding proteins. Post-transcriptional regulation of RNA in these dendrites has been found to play an important role in their function. Here, we investigate the neuronal functions of two putative RNA modification genes, RluA-1 and RluA-2, which are predicted to encode pseudouridine synthases. RluA-1 is specifically expressed in larval sensory neurons while RluA-2 expression is ubiquitous. Nociceptor-specific RNAi knockdown of RluA-1 caused hypersensitive nociception phenotypes, which were recapitulated with genetic null alleles. These were rescued with genomic duplication and nociceptor-specific expression of UAS-RluA-1-cDNA. As with RluA-1, RluA-2 loss of function mutants also displayed hyperalgesia. Interestingly, nociceptor neuron dendrites showed a hyperbranched morphology in the RluA-1 mutants. The latter may be a cause or a consequence of heightened sensitivity in mutant nociception behaviors.
Strategies used by professional rugby union clubs to manage players for artificial turf exposure
Authors: McKay Carly , Cross Matthew , Kemp Simon , Stokes Keith 
Published: October 2020

Background: The use of artificial turf on rugby pitches is increasingly commonplace but there is limited evidence around its effects on injury, recovery, and performance. It is unclear whether this uncertainty influences player management strategies in professional clubs.
Objectives: To understand how professional rugby union clubs in England approach player management for artificial turf, to explore how the beliefs of medical and strength/conditioning staff influence these decisions, and to determine whether differences exist between clubs with different levels of exposure to artificial surfaces.
Methods: The study was a cross-sectional mixed methods study. Twenty-three medical and strength/conditioning staff members from 12 English Premiership Rugby Union clubs completed two bespoke questionnaires and participated in a semi-structured interview.
Results: Two-thirds of the participants described formal club-level approaches to artificial turf. All participants from low- exposure clubs (<50% training and match time on artificial pitches) reported adjusting player recovery strategies following games on artificial turf to mitigate elevated muscle soreness and fatigue. Clubs with artificial surfaces at their home venues were less likely to adapt recovery than clubs with natural turf pitches. Regardless of exposure participants believed switching between surface types was a risk factor for injury. Medics reported that acute injuries associated with artificial turf exposure typically occurred at the foot or ankle, whereas abrasions and overuse injuries were more common and often affected the knees, hips and lower back. Players with compromised joints were less likely to be selected for matches on artificial surfaces.
Conclusion: Player management around artificial turf is a focus for staff at professional rugby union clubs. Club practices vary by exposure and may consequently influence injury risk estimates.