bluuebunny/crossref_metadata_2025_split huggingface dataset:
Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome
Authors: Kubota Yasuo , Uryu Kumiko , Ito Tatsuya , Seki Masafumi , Kawai Tomoko , Isobe Tomoya , Kumagai Tadayuki , Toki Tsutomu , Yoshida Kenichi , Suzuki Hiromichi , Kataoka Keisuke , Shiraishi Yuichi , Chiba Kenichi , Tanaka Hiroko , Ohki Kentaro , Kiyokawa Nobutaka , Kagawa Jiro , Miyano Satoru , Oka Akira , Hayashi Yasuhide , Ogawa Seishi , Terui Kiminori , Sato Atsushi , Hata Kenichiro , Ito Etsuro , Takita Junko 
Published: August 2019

AbstractChildren with Down syndrome (DS) are at a 20‐fold increased risk for acute lymphoblastic leukemia (ALL). Compared to children with ALL and no DS (non‐DS‐ALL), those with DS and ALL (DS‐ALL) harbor uncommon genetic alterations, suggesting DS‐ALL could have distinct biological features. Recent studies have implicated several genes on chromosome 21 in DS‐ALL, but the precise mechanisms predisposing children with DS to ALL remain unknown. Our integrated genetic/epigenetic analysis revealed that DS‐ALL was highly heterogeneous with many subtypes. Although each subtype had genetic/epigenetic profiles similar to those found in non‐DS‐ALL, the subtype distribution differed significantly between groups. The Philadelphia chromosome‐like subtype, a high‐risk B‐cell lineage variant relatively rare among the entire pediatric ALL population, was the most common form in DS‐ALL. Hypermethylation of RUNX1 on chromosome 21 was also found in DS‐ALL, but not non‐DS‐ALL. RUNX1 is essential for differentiation of blood cells, especially B cells; thus, hypermethylation of the RUNX1 promoter in B‐cell precursors might be associated with increased incidence of B‐cell precursor ALL in DS patients.
Rexiella, a new name for Rexia S. Stenroos, Pino‐Bodas & Ahti (2018), non Rexia D. A. Casamatta, S. R. Gomez & J. R. Johansen (2006)
Authors: Stenroos Soili , Pino‐Bodas Raquel , Ahti Teuvo 
Published: August 2019

AbstractA new generic name, Rexiella, is published to replace the recently published name Rexia S. Stenroos, Pino‐Bodas and Ahti, which turned out to be an illegitimate later homonym of the cyanobacterial genus Rexia D. A. Casamatta, S. R. Gomez and J. R. Johansen.
Development of an Integrated Platform Using Multidisciplinary Real‐World Data to Facilitate Biomarker Discovery for Medical Products
Authors: Dabic Stefan , Azarbaijani Yasameen , Karapetyan Tigran , Loyo‐Berrios Nilsa , Simonyan Vahan , Kitchner Terrie , Brilliant Murray , Torosyan Yelizaveta 
Published: August 2019

Translational multidisciplinary research is important for the Center for Devices and Radiological Health's efforts for utilizing real‐world data (RWD) to enhance predictive evaluation of medical device performance in patient subpopulations. As part of our efforts for developing new RWD‐based evidentiary approaches, including in silico discovery of device‐related risk predictors and biomarkers, this study aims to characterize the sex/race‐related trends in hip replacement outcomes and identify corresponding candidate single nucleotide polymorphisms (SNPs). Adverse outcomes were assessed by deriving RWD from a retrospective analysis of hip replacement hospital discharge data from the National Inpatient Sample (NIS). Candidate SNPs were explored using pre‐existing data from the Personalized Medicine Research Project (PMRP). High‐Performance Integrated Virtual Environment was used for analyzing and visualizing putative associations between SNPs and adverse outcomes. Ingenuity Pathway Analysis (IPA) was used for exploring plausibility of the sex‐related candidate SNPs and characterizing gene networks associated with the variants of interest. The NIS‐based epidemiologic evidence showed that periprosthetic osteolysis (PO) was most prevalent among white men. The PMRP‐based genetic evidence associated the PO‐related male predominance with rs7121 (odds ratio = 4.89; 95% confidence interval = 1.41−17.05) and other candidate SNPs. SNP‐based IPA analysis of the expected gene expression alterations and corresponding signaling pathways suggested possible role of sex‐related metabolic factors in development of PO, which was substantiated by ad hoc epidemiologic analysis identifying the sex‐related differences in metabolic comorbidities in men vs. women with hip replacement‐related PO. Thus, our in silico study illustrates RWD‐based evidentiary approaches that may facilitate cost/time‐efficient discovery of biomarkers for informing use of medical products.
Intraneural granular cell tumor: Histologic spectrum and histogenetic implication
Authors: Chow Louis T. C. , Chow Maria B. C. Y. 
Published: August 2019

AbstractGranular cell tumor (GCT), despite its putative neural origin, commonly occurs in extraneural sites; only six single case reports of intraneural GCT have been described. We report an unique case as the only one with motor dysfunction, the longest duration of symptoms, and largest tumor size with resultant muscle atrophy and fatty infiltration. Upon review of these cases, the striking feature of intraneural GCT lies in its histologic variety, ranging from benign GCT, through plexiform, hybrid GCT and perineurioma to malignant GCT, encompassing the full spectrum of extraneural GCT. As the immunophenotypes of schwannoma and GCT are not exactly identical, together with evidence from ultrastructural studies, the more reasonable and likely possibility is that GCT originates from undifferentiated mesenchymal cells acquiring partial schwannian differentiation. Such postulation by virtue of the widespread occurrence of mesenchymal cells in the soft tissue, better explains the topographic distribution of GCT in extraneural and intraneural location.
“Discover and Explore”: Creating Impactful STEAM Learning Experiences for Museum Professionals
Authors: Saraniero Patricia , Kelton Molly L. 
Published: August 2019

AbstractProjects that blend Science, Technology, Engineering, Arts, and Mathematics (STEAM) can present a number of challenges, including the integration of disparate concepts or ideas. Weaving the arts together with mathematics and the sciences for museum visitors in meaningful ways is currently an area of development for many museum professionals. This article examines five essential elements for museum professionals’ learning and development. These elements are examined through a case study of a professional development program designed to support museum professionals to collaboratively develop STEAM programming and exhibits. Drawing on this research, recommendations for future learning opportunities are offered.
Cardiomyopathy presenting prenatally with functional tricuspid and pulmonary atresia
Authors: Patel Reema , Peterson Renuka 
Published: August 2019

AbstractCardiomyopathy is a rare diagnosis in the fetus that usually presents as a dilated, poorly functioning ventricle. We present the case of a fetus that developed functional tricuspid and pulmonary atresia due to progressive right ventricular cardiomyopathy. The baby was supported with prostaglandin and inotropic infusions after delivery, eventually weaning off without need for surgical intervention. This case illustrates the prenatal findings that evolved and the successful postnatal management.
Bacillus pumilus and Stenotrophomonas maltophilia as two potentially causative agents involved in Persian oak decline in Zagros forests (Iran)
Authors: Ahmadi Elahe , Kowsari Mojegan , Azadfar Davood , Salehi Jouzani Gholamreza 
Published: August 2019

AbstractThe oak decline is known as one of the most destructive complex diseases causing high economic losses around the world, especially in Iran. The main objective of the present study was to investigate the possible role of bacteria as causative agents of oak decline in the Zagros forests of Iran. To do this, stem, root and leaf samples were taken from symptomatic Persian oak trees (Quercus brantii) in different zones of Zagros forests (Ilam Province, Iran). From 150 bacterial isolates, 20 showed pathogenicity against Geranium seedlings. Among 20 hypersensitivity test positive strains, four strains showed pathogenicity against oak saplings. Based on morphological and 16S rRNA gene sequence analysis, three strains were identified as Bacillus pumilus and one strain as non‐sporulating Gram‐negative Stenotrophomonas maltophilia. Pathogenicity studies of different B. pumilus and S. maltophilia strains revealed that they have potential to cause the disease in oak saplings and symptoms of disorder in Persian oak trees. To our knowledge, there are no previous records of B. pumilus and S. maltophilia causing decline on Fagaceous trees like Q. brantii. More detailed field and molecular studies are required to confirm the absolute role of such bacteria in occurrence of oak decline in Zagros forests.
A study of selected hematopoietic stem cell donors provided by an intermediate size registry
Authors: Nicoloso Grazia , Kürsteiner Oliver , Bussmann Felix , Marbacher Monika , Tiercy Jean‐Marie 
Published: August 2019

AbstractObjectivePlanning new hematopoietic stem cell (HSC) donor recruitment strategies requires a sound understanding of the factors underlying donor selection, especially considering HLA‐matching criteria.MethodA total of 182 consecutive workups of Swiss donors performed from 2014 to 2017 were analyzed for HLA match level, locus disparities, number of potentially 10/10 matched donors in the international database, donor ranking on the lists, donor date of registration, age, ABO, CMV, gender matching, patient genotype frequency, and country performing the search.ResultsMatching status of the selected donors was 10/10 for 38.5%, 10‐12/12 for 35.1%, and 8‐9/10 for 26.4% donors, without differences in average donor age in the three categories. HLA‐A and ‐C mismatches were most frequent and ‐DRB1 very rare. 8.2% patients were matched for HLA‐DPB1 (12/12). ABO matching was 46.3%, and CMV matching was 59.1%. Based on “HaploStat”‐derived genotype frequencies, 50.3% patients belonged to the “good,” 38.5% to the “fair,” and 11.2% to the “poor” search prognosis categories. 37.9% of transplants were gender‐mismatched, and 42.3% of donors were female.ConclusionHLA typing quality (high resolution, all loci typed), great diversity of haplotypes and donor age are main factors impacting the selection of Swiss donors, while gender and ABO matching seem to be of secondary importance.
An Analysis of College Choice Information Provided on Graduate Program Websites: Implications for Improving Applicant Diversity in Educational Measurement
Authors: Rios Joseph A. , Randall Jennifer , Donnelly Marina 
Published: August 2019

AbstractThere has long been a concern about the lack of representation of ethnic minorities in the field of educational measurement. As previous research has shown that graduate programs primarily rely on their websites for recruiting efforts, the objective of this study was to conduct a content analysis of all U.S. educational measurement program websites to evaluate the availability of college choice information found to be useful for underrepresented ethnic minority applicants. In terms of program climate, results revealed that less than 10% of programs directly encouraged ethnic minorities to apply or included an antidiscrimination statement with regard to application review on their websites. Moreover, only a few program websites indicated the availability of flexible programming—previously found to be important for underrepresented ethnic minority students—such as part‐time options (16%), evening courses (10%), and online course/program availability (8%). Recommendations for how measurement programs can improve their websites to include desirable college choice information for underrepresented ethnic minority applicants are discussed.
Vocalisation and its association with androgens and corticosterone in a night frog (Nyctibatrachus humayuni) with unique breeding behaviour
Authors: Joshi Amruta M. , Narayan Edward J. , Gramapurohit Narahari Prabhakar 
Published: August 2019

AbstractIn anurans, vocalisation is used to communicate within and between the sexes during reproduction. Knowledge of vocal repertoire and its diversity is essential in understanding its significance in sexual selection. In this context, we studied the vocal behaviour of Nyctibatrachus humayuni and quantified the urinary metabolites of androgens and corticosterone to understand the associations among hormones, body condition index and vocalisation. Our results show that males of N. humayuni produce an amplitude‐modulated call consisting of a train of pulses. Interestingly, a high degree of inter‐individual variation was observed in the call parameters. The dominant frequency and pulse interval were negatively correlated with male body size, whereas pulse duration and pulse duty cycle were positively correlated with it. Dominant frequency was negatively correlated with androgens and corticosterone, whereas pulse interval was negatively correlated with corticosterone. Further, pulse duty cycle, pulse duration and pulses per call were positively associated with corticosterone. Surprisingly, none of the acoustic parameters was associated with male body temperature and body condition. A significant variation was evident in the vocal effort, dominant frequency and amplitude of advertisement calls produced under different social situations. Calls produced during territory establishment had lower dominant frequency but higher vocal effort, whereas those produced during courtship had higher amplitude and vocal effort than the calls produced in the absence of a competitor/female. Our results suggest that greater inter‐male variability in the advertisement call of N. humayuni could be important in female choice as it may help females to assess the quality of a male. Further, androgens and corticosterone could be important in modulating crucial parameters of the advertisement call.
Targeting the gut‐skin axis—Probiotics as new tools for skin disorder management?
Authors: Szántó Magdolna , Dózsa Anikó , Antal Dóra , Szabó Kornélia , Kemény Lajos , Bai Péter 
Published: August 2019

AbstractThe existence of a gut‐skin axis is supported by increasing evidence, but its translational potential is not widely recognized. Studies linked inflammatory skin diseases to an imbalanced gut microbiome; hence, the modulation of the gut microbiota to improve skin condition seems to be a feasible approach. Today, there is a growing interest in natural products as alternatives to synthetic drugs. In this respect, oral probiotics could be a simple, safe and cheap modality in the therapeutic management of skin inflammation. Unfortunately, very few studies have looked into how probiotic supplementation influences inflammatory skin disorders. The result, though promising, are difficult to implement in clinical practice due to the heterogeneity of the applied supplemental regimen in the different studies. In this Viewpoint, we aim to encourage the conduction of more research in that direction to explore unambiguously the therapeutic potential of oral probiotics in dermatology. We focus on the most common inflammatory skin diseases (atopic dermatitis, psoriasis, rosacea, acne vulgaris) with an associated gut dysbiosis, but we also discuss some less common, but very serious skin pathologies (eg erythema nodosum, pyoderma gangrenosum, hidradenitis suppurativa) that are possibly linked to a disturbed gut flora composition. We dissect the possible mechanisms along the gut‐skin axis and highlight novel points where probiotics could interfere in this communication in the diseased state.
A highly conserved δ‐opioid receptor region determines RGS4 interaction
Authors: Karoussiotis Christos , Marti‐Solano Maria , Stepniewski Tomasz Maciej , Symeonof Alexandra , Selent Jana , Georgoussi Zafiroula 
Published: August 2019

The δ‐opioid receptor (δ‐OR) couples to Gi/Go proteins to modulate a variety of responses in the nervous system. Τhe regulator of G protein signalling 4 (RGS4) was previously shown to directly interact within the C‐terminal region of δ‐OR using its N‐terminal domain to negatively modulate opioid receptor signalling. Herein, using molecular dynamics simulations and in vitro pull‐down experiments we delimit this interaction to 12 helix 8 residues of δ‐ΟR and to the first 17 N‐terminal residues (NT) of RGS4. Monitoring the complex arrangement and stabilization between RGS4 and δ‐OR by molecular dynamics simulations combined with mutagenesis studies, we defined that two critical interactions are formed: one between Phe329 of helix8 of δ‐ΟR and Pro9 of the NT of RGS4 and the other a salt bridge between Glu323 of δ‐ΟR and Lys17 of RGS4. Our observations allow drafting for the first time a structural model of a ternary complex including the δ‐opioid receptor, a G protein and a RGS protein. Furthermore, the high degree of conservation among opioid receptors of the RGS4‐binding region, points to a conserved interaction mode between opioid receptors and this important regulatory protein.
Adaptive bycatch reduction in penaeid trawls via rapid adjustments to headline height
Authors: Kennelly Steven J. , Melli Valentina , Broadhurst Matt K. 
Published: August 2019

AbstractPenaeid trawling is among the world's least selective fishing methods; a characteristic that has evoked spatial closures being implemented in some fisheries if certain bycatch limits are exceeded. For decades, considerable work has been done to develop modifications to penaeid trawls that reduce unwanted bycatches, with most focussed at the posterior section (i.e. codend). More recently, efforts have examined ways to prevent bycatch entry into trawls entirely—via modifications to anterior components. This study assessed the utility of proactively lowering the headlines of Australian penaeid trawls, using clips at the otter boards, to 68% and 54% of their conventional height, and demonstrated mean total bycatch reductions (by weight) of 69% and 79%, respectively, with no effects on the targeted Metapenaeus macleayi (Haswell). The results provide insights into the location and behaviour of various species in the water column preceding capture, and support a simple and easy method for regional fishers to use in situ to avoid excessive bycatch and associated fishing closures. More broadly, the data support ongoing efforts in other penaeid‐trawl fisheries to reduce bycatches via similar, rapid adjustments to anterior components, depending on species‐specific behaviours during capture.
Zones of influence for soil organic matter dynamics: A conceptual framework for data and models
Authors: Cagnarini Claudia , Blyth Eleanor , Emmett Bridget A. , Evans Chris D. , Griffiths Robert I. , Keith Aidan , Jones Laurence , Lebron Inma , McNamara Niall P. , Puissant Jeremy , Reinsch Sabine , Robinson David A. , Rowe Edwin C. , Thomas Amy R.C. , Smart Simon M. , Whitaker Jeanette , Cosby Bernard J. 
Published: August 2019

AbstractSoil organic matter (SOM) is an indicator of sustainable land management as stated in the global indicator framework of the United Nations Sustainable Development Goals (SDG Indicator 15.3.1). Improved forecasting of future changes in SOM is needed to support the development of more sustainable land management under a changing climate. Current models fail to reproduce historical trends in SOM both within and during transition between ecosystems. More realistic spatio‐temporal SOM dynamics require inclusion of the recent paradigm shift from SOM recalcitrance as an ‘intrinsic property’ to SOM persistence as an ‘ecosystem interaction’. We present a soil profile, or pedon‐explicit, ecosystem‐scale framework for data and models of SOM distribution and dynamics which can better represent land use transitions. Ecosystem‐scale drivers are integrated with pedon‐scale processes in two zones of influence. In the upper vegetation zone, SOM is affected primarily by plant inputs (above‐ and belowground), climate, microbial activity and physical aggregation and is prone to destabilization. In the lower mineral matrix zone, SOM inputs from the vegetation zone are controlled primarily by mineral phase and chemical interactions, resulting in more favourable conditions for SOM persistence. Vegetation zone boundary conditions vary spatially at landscape scales (vegetation cover) and temporally at decadal scales (climate). Mineral matrix zone boundary conditions vary spatially at landscape scales (geology, topography) but change only slowly. The thicknesses of the two zones and their transport connectivity are dynamic and affected by plant cover, land use practices, climate and feedbacks from current SOM stock in each layer. Using this framework, we identify several areas where greater knowledge is needed to advance the emerging paradigm of SOM dynamics—improved representation of plant‐derived carbon inputs, contributions of soil biota to SOM storage and effect of dynamic soil structure on SOM storage—and how this can be combined with robust and efficient soil monitoring.
Forced migrations and Externalization of European Union Border Control: Serbia on the Balkan Migration Route
Authors: Bobić Mirjana , Šantić Danica 
Published: August 2019

AbstractThe article argues that the recent “migration crisis” has been constructed as a security threat to the European Union, which conceals both the multiple causes of forced migrations, and the inability of the Union to respond to the massive influx of people in need of protection. Serbia had taken up a “refugee‐friendly” policy, which implied a humanitarian approach. However, due to a change of political discourse in connection with the EU accession, a shift towards the security position occurred. This article sheds light on the actual status of migrants and asylum seekers in Serbia, as well as the state response to the growing challenges in the area of acceptance and protection, following the official closure of the Balkan route. In the conclusion, the authors tentatively plead for return to a balanced humanitarian approach, since there is clear evidence that mixed migration flows will resume in the times to come.
Limits to consent in cosmetic interventions: an update
Authors: Holden Alexander C. L. , Stewart Cameron 
Published: August 2019

AbstractThis update restates the legal limits of consent to medical treatment. It reviews the classic statement of law set down by the case of R v Brown, where ‘proper medical treatment’ was stated to be exempted from the ordinary laws of consent. This position has been recently developed further by the 2018 English case of R v BM where a non‐medical body modification artist was convicted for having carried out substantive body modification procedures. This article considers how these developments may affect Australian law, particularly laws pertaining to cosmetic procedures.
Oesophageal food bolus obstruction and eosinophilic oesophagitis
Authors: Cook Dane , Zala Alkesh , Bollipo Steven , Potter Michael D. E. , Walker Marjorie M. , Talley Nicholas J. 
Published: August 2019

AbstractEosinophilic oesophagitis (EoE) is now a well‐recognised cause of dysphagia and food bolus obstruction (FBO). The diagnosis requires histologic confirmation, and the yield is greatest when at least 4 to 6 oesophageal biopsies are taken from different sites. Previous case reports of FBO have demonstrated a low biopsy rate, and as such cases of EoE may have been missed. In this review, the medical records of 123 patients aged 18 years or older, who had presented with FBO over a 2 year period, were reviewed. EoE was the most common diagnosis, and was found in 81.3% of patients with FBO aged 40 years or less. 45.5% of patients with FBO were biopsied, and of those, 33.9% were confirmed to have had at least 4 biopsies. EoE is a common cause of FBO and requires appropriate oesophageal sampling to confirm the diagnosis. Cases of EoE may otherwise be missed.