bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader‐Willi male
Authors: Eldar‐Geva Talia , Gross‐Tsur Varda , Hirsch Harry J. , Altarescu Gheona , Segal Reeval , Zeligson Sharon , Golomb Eliahu , Epsztejn‐Litman Silvina , Eiges Rachel 
Published: July 2018

AbstractBackgroundPrader‐Willi syndrome (PWS) is a multisystem genetic disorder characterized by lack of satiety leading to morbid obesity, variable degrees of mental retardation, behavior disorders, short stature, and hypogonadism. The underlying genetic cause for PWS is an imprinting defect resulting from a lack of expression of several paternally inherited genes embedded within the 15q11.2‐q13 region. Although the clinical expression of hypogonadism in PWS is variable, there are no known cases of fertility in PWS men. In this paper, we described a pure, nearly diploid seminoma in an apparently 32 year‐old infertile man with PWS due to maternal uniparental disomy (UPD) on chromosome 15. The development of a germ cell tumor in this subject was an unanticipated result. The aim of this study was to explore the origin of the germ cell tumor in this PWS male patient.MethodsTo explain the origin of the germ cell tumor (seminoma) in our PWS patient we have characterized the tumor for cell morphology and tumor type by pathological examination (H&E and immuno‐stainings), evaluated its karyotype by chromosomal microarray analysis and confirmed its UPD origin by haplotype analysis. In addition, DNA methylation status of the PWS‐ and H19‐ imprinting centers in wild‐type and affected fibroblasts, patient derived induced pluripotent stem cells (iPSCs), and PWS seminoma were determined by bisulfite DNA colony sequencing.ResultsTo explain the apparent contradiction between the existence of a germ cell tumor and hypogonadism we first confirmed the germ cell origin of the tumor. Next, we determined the tumor chromosomal composition, and validated the presence of a maternal UPD in all examined cell types from this patient. Finally, we characterized the maternal imprints in the PWS and H19 imprinting centers in the tumor and compared them with patient's fibroblasts and iPSCs derived from them. Unpredictably, methylation was reduced to 50% in the tumor, while preserved in the other cell types.ConclusionWe infer from this assay that the loss of methylation in the PWS‐IC specifically in the tumor of our patient is most likely a locus‐specific event resulting from imprint relaxation rather than from general resetting of the imprints throughout the genome during germ line specification.
Parent–child communication surrounding genetic testing for Li–Fraumeni syndrome: Living under the cloud of cancer
Authors: Valdez Jessica M. , Walker Breya , Ogg Susan , Gattuso Jami , Alderfer Melissa A. , Zelley Kristin , Ford Carol A. , Baker Justin N. , Mandrell Belinda N. , Nichols Kim E. 
Published: July 2018

AbstractBackgroundAdvances in the application of genetic technologies reveal a growing number of heritable disorders associated with an increased risk to develop cancer during childhood. As genetic testing is increasingly employed in the clinical setting, it is essential to understand whether parents communicate with their children about test results and to elucidate the factors that influence the content and outcomes of these conversations.MethodsSemistructured interviews were conducted with 14 parents whose children tested positive for Li–Fraumeni syndrome (LFS). Semantic content analysis was performed on transcribed interviews, focusing on questions related to parent–child conversations about the genetic testing process and disclosure of positive test results.ResultsAll parents emphasized the importance of involving children in conversations about LFS. The majority (93%) identified as being part of “cancer families” in which prior experiences with cancer created opportunities for communication. While all had spoken with their children about cancer, only seven (50%) specifically disclosed to their children that they had tested positive for LFS. The most common reason cited for nondisclosure at the time of this study was the young age of the children.ConclusionParents of children with LFS desire open conversations about genetic testing and cancer risk. These conversations are challenging yet essential to enable child understanding of genetic risk status and enhance compliance with health‐promoting and cancer surveillance measures. Development of age‐appropriate educational materials and novel clinical models to facilitate parent–child conversations about genetic test results and risk status for cancer are needed.
Prenatal and perinatal risk factors for solid childhood malignancies: A questionnaire‐based study
Authors: Li Sihui , Cai Siyu , Huang Cheng , Chai Xi , Wang Xindi , Wang Xisi , Zhao Wen , Nie Xiaolu , Peng Xiaoxia , Ma Xiaoli 
Published: July 2018

AbstractImportanceChildhood solid tumors account for the highest proportion of childhood cancers and are one of the leading causes of death in childhood. However, their pathogenesis is unclear.ObjectiveTo explore prenatal and perinatal risk factors for solid malignancies in children.MethodsWe enrolled 71 consecutive pediatric patients (44 boys and 27 girls; median age, 30 months) with solid tumors who were diagnosed and treated at our center from January 2013 to December 2016 as the case group. We also enrolled 211 age‐ and residence‐matched healthy children (ratio of approximately 3:1 with the case group) as the control group. We conducted a questionnaire‐based survey with the parents of these 282 children. Univariate and multivariate conditional logistic regression analyses of the collected data were performed.ResultsConfirmed solid malignancies included neuroblastoma (n = 32), rhabdomyosarcoma (n = 18), retinoblastoma (n = 7), renal tumors (n = 3), and other tumors (n = 11). Risk factors for solid childhood tumors in the univariate analysis were the parents’ age, gravidity, parity, abortion history, vaginal bleeding, family history of malignancy, and prenatal use of folic acid or hematinics/iron supplements (P < 0.05), and those in the multivariate analysis were higher parity (odds ratio [OR], 2.482; 95% confidence interval [CI], 1.521–4.048), family history of malignancy (OR, 3.667; 95% CI, 1.679–8.009), and prenatal use of hematinics/iron supplements (OR, 2.882; 95% CI, 1.440–5.767). In contrast, use of prenatal folic acid was protective (OR, 0.334; 95% CI, 0.160–0.694).InterpretationA family history of malignancy, use of prenatal hematinics/iron supplements, and higher parity are risk factors for solid childhood tumors, whereas use of prenatal folic acid is a protective factor.
Successful treatment of a female pediatric patient with carbamazepine‐induced toxic epidermal necrolysis: Active wound care and systemic therapy
Authors: Liang Yuan , Chu Yan , Xu Zigang , Ma Lin 
Published: July 2018

AbstractWe describe a 6‐year‐old female patient who developed carbamazepine‐associated toxic epidermal necrolysis. With active wound care, systemic methylprednisolone and intravenous immunoglobulin pulse therapies and multidisciplinary supportive care, the patient improved significantly. This case indicates that improving the management of Stevens‐Johnson syndrome/Toxic epidermal necrolysis patients requires attention not only to the process of wound management but also to individual supportive care and active therapeutic intervention. Only through this can standardized care, including muco‐cutaneous and visceral wound care, be delivered to provide high‐quality care with improved clinical prognosis and quality of life.
Spiromesifen and spirotetramat resistance in field populations of Bemisia tabaci Gennadius in Spain
Authors: Bielza Pablo , Moreno Inmaculada , Belando Ana , Grávalos Carolina , Izquierdo Josep , Nauen Ralf 
Published: July 2018

AbstractBACKGROUNDSpiromesifen and spirotetramat are novel insecticides belonging to the chemical class of tetronic and tetramic acid derivatives. Both compounds have proven very effective against field populations of Bemisia tabaci around the world. However, several growers have recently reported control failures in Spain. Therefore, we studied the resistance level to these insecticides in field populations reporting control failures. In addition, we further selected a spiromesifen‐resistant strain to study the mechanisms involved and the cross‐resistance pattern.RESULTSAll the new field populations collected were significantly more resistant to spiromesifen than the susceptible population, confirming the presence of resistance. Several populations showing high levels of resistance to spiromesifen (>10 000‐fold), exhibited cross‐resistance to spirotetramat, but resistance ratios were much lower (130‐fold). The spiromesifen laboratory‐selected strain was very resistant to spiromesifen (LC50 > 30 000 mg L−1) and spirotetramat (LC50 = 368.1 mg L−1), but lacks any cross‐resistance to other insecticides, thus providing options for resistance management. None of the synergists tested significantly restored the susceptibility of B. tabaci to either spiromesifen or spirotetramat.CONCLUSIONThis is the first report of resistance to spiromesifen and spirotetramat in B. tabaci, and such high levels of resistance have not been reported before in any field collected pest. Our results suggest that enhanced detoxification does not critically contribute to resistance to ketoenols in B. tabaci. The obvious lack of a metabolic resistance mechanism either suggests a target‐site resistance mechanism or a metabolic mechanism insensitive to the synergists tested. © 2018 Society of Chemical Industry
Sequential experimentation approach for robust design
Authors: Ríos Armando J. , Guerrero Guadalupe 
Published: July 2018

AbstractThe Taguchi approach for robust design has been a common practice in industrial experimentation for many years. However, these designs possess serious disadvantages such as the inability to estimate control × control interactions. In this article, we propose the application of the R3 algorithm as an augmentation tool for Taguchi experiments. The augmented Taguchi designs were compared with its competitors, mixed resolution designs, and D‐optimal augmentation, using performance indicators. The results showed that Taguchi designs augmented with the R3 algorithm are capable of estimating control × control interactions, possess similar values for performance indicators when compared with other techniques, and in most cases require less runs.
The size Ramsey number of short subdivisions of bounded degree graphs
Authors: Kohayakawa Yoshiharu , Retter Troy , Rödl Vojtěch 
Published: July 2018

AbstractFor graphs G and F, write if any coloring of the edges of G with colors yields a monochromatic copy of the graph F. Suppose is obtained from a graph S with s vertices and maximum degree d by subdividing its edges h times (that is, by replacing the edges of S by paths of length h + 1). We prove that there exists a graph G with no more than edges for which holds, provided that . We also extend this result to the case in which Q is a graph with maximum degree d on q vertices with the property that every pair of vertices of degree greater than 2 are distance at least h + 1 apart. This complements work of Pak regarding the size Ramsey number of “long subdivisions” of bounded degree graphs.
Synthesis of Fluorescent BODIPY‐Labeled Analogue of Miltefosine for Staining of Acanthamoeba.
Authors: Courrier Emilie , Maret Corentin , Charaoui‐Boukerzaza Sana , Lambert Victor , De Nicola Antoinette , Muzuzu Wenziz , Ulrich Gilles , Raberin Hélène , Flori Pierre , Moine Baptiste , He Zhiguo , Gain Philippe , Thuret Gilles 
Published: July 2018

AbstractAmoebae pose a potential health risk as pathogenic agents i. e. in the central nervous system or the cornea, early diagnostics are important to implement rapid treatments and reduce impact on human health. Thus, development of selective fluorescent tags for Amoebae is an important issue. Analogues of Miltefosine, a drug effective against various strains of free‐living amoebae, have been synthesized. They are derivatives of the 11‐aminoundecylphosphocholine. Via a peptide bond, a strong emitting BODIPY was embedded to the structure. This compound (1) was used to selectively stain for Acanthamoeba castellanii. In order to test the effect of the insertion of the amide function in the alkylbackbone of this modified Miltefosine, a model molecule (2) was prepared by replacing the dye by the anisidyl moiety. Anti‐amoebic activity was evaluated for both.
Synthesis of Multinuclear Zn(II) Complexes Involving 8‐Aminoquinoline‐ Based Schiff‐Base Ligand: Structural Diversity, DNA Binding Studies and Theoretical Calculations.
Authors: Ghorai Pravat , Brandão Paula , Bauzá Antonio , Frontera Antonio , Saha Amrita 
Published: July 2018

AbstractFour novel Zn(II) complexes [Zn2L2X2] (1), [Zn4L4X(OH)(OH2)][ZnX4]⋅H2O⋅CH3OH (2,3) and [Zn4L4X(OH)(OH2)](N(CN)2)(NO3)⋅ 2H2O⋅CH3OH (4) [where HL=(E)‐2‐methoxy‐6‐((quinolin‐8‐ylimino)methyl)phenol and X= N3−, SCN−, SeCN−, N(CN)2− for 1–4 respectively] were synthesized and characterized by elemental analysis and different spectroscopic techniques viz. IR spectroscopy, UV‐vis spectroscopy and X‐ray crystallography. Complex 1 is hetero (μ‐azido and μ‐phenoxo) bridged dinuclear Zn(II) complex whereas complexes 2, 3 and 4 are tetranuclear Zn(II) complexes with corner‐defective cubane structure. Complexes 2–4 bare the rare examples of presence of three different binding modes (mono, di and triply (μ3) bridging) of phenoxo group of a Schiff base ligand in a single platform. All four complexes exhibit groove binding as well as weak electrostatic interaction with CT‐DNA (calf thymus‐DNA). DFT (density functional theory) and MEP (Molecular electrostatic potential) analysis are also studied for complexes 1–4.
Overview of the Results and Recommendations
Authors: Sosnovsky Sergey , Mercat Christian , Pohjolainen Seppo 
Published: July 2018

AbstractThe two EU Tempus-IV projects MetaMath (www.metamath.eu) and MathGeAr (www.mathgear.eu) have brought together mathematics educators, TEL specialists and experts in education quality assurance from 21 organizations across six countries. A comprehensive comparative analysis of the entire spectrum of math courses in the EU, Russia, Georgia and Armenia has been conducted. Its results allowed the consortium to pinpoint and introduce several curricular modifications, while preserving the overall strong state of the university math education in these countries. The methodology, the procedure and the results of this analysis are presented here.
Fish, Family, and the Gendered Politics of Descent Along Uganda’s Southern Littorals
Authors: Johnson Jennifer L. 
Published: July 2018

Abstract:This article examines historic gendered negotiations over identity, descent, and access to land along Uganda’s southern littorals by thinking about belonging with an exceptionally diverse assemblage of small fish. Based on accounts from contemporary littoral residents, the comparative historic ethnographic record, and fisheries scientists, the article describes the reproductive practices of enkejje as they may have been visible from Uganda’s southern littorals and situates the practices of raising socially recognized children within broader historical developments of clanship and public healing. Attending to these small fish in moments and in places where groups are under construction reorients analyses of descent politics beyond an often implicit focus on male interests towards the work of grandmothers, aunts, and mothers in debating the qualities of the most foundational units of the body politic – male and female children constituted relationally as persons through their status as legitimate family members.
Risk factors for surgical site infection after kidney and pancreas transplantation
Authors: Natori Yoichiro , Albahrani Salma , Alabdulla Mohammed , Vu James , Chow Edwin , Husain Shahid , Kumar Deepali , Humar Atul , Schiff Jeffrey , Cattral Mark , Rotstein Coleman 
Published: July 2018

AbstractObjectiveTo evaluate the incidence of surgical site infection (SSI) in a cohort of pancreas transplant recipients and assess predisposing risk factors for SSIDesignRetrospective cohort studySettingSingle transplant center in CanadaPatientsPatients who underwent any simultaneous pancreas and kidney (SPK) or pancreas after kidney (PAK) transplant procedures between January 2000 and December 2015MethodsIn this retrospective cohort evaluation of SPK or PAK recipients, we assessed the incidence of SSI and risk factors associated with superficial, deep, and organ/space SSI. Multivariate logistic regression was used to identify independent risk factors for SSI in SPK and PAK recipients.ResultsIn total, 445 adult transplant recipients were enrolled. The median age of these patients was 51 years (range, 19–71 years), and 64.9% were men. SSIs were documented in 108 patients (24.3%). Organ/space SSIs predominated (59 patients, 54.6%), followed by superficial SSIs (47 patients, 43.5%) and deep SSIs (3 patients, 2.8%). Factors predictive of SSIs in the multivariate analysis were cold pancreas ischemic time (odds ratio [OR], 1.002; P=.019) and SPK transplant (compared to PAK transplant recipients; OR, 2.38; P=.038). Patients with SSIs developed graft loss more frequently (OR, 16.99; P<.001).ConclusionsOrgan/space SSIs remain a serious and common complication after SPK and PAK. Prolonged cold ischemic time and SPK transplant were the risk factors predictive of SSIs. Appropriate perioperative prophylaxis in high-risk patients targeting the potential pathogens producing SSIs in kidney and/or pancreas transplant recipients and a reduction in cold ischemia may prove beneficial in reducing these SSIs.
Late Quaternary geomorphology and geoarchaeology in the rivers of the Holy Cross Mountains region, central Europe
Authors: Kalicki Tomasz , Frączek Marcin , Przepióra Paweł , Kusztal Piotr , Kłusakiewicz Edyta , Malęga Emanuela 
Published: July 2018

AbstractLate Quaternary terraces and sediments in the Holy Cross Mountain region of Poland, emplaced within an environment that had evolved following multiple Pleistocene glaciations, provide evidence of increasing anthropogenic influence on landscape development since the Middle Ages, as revealed by research in the Kamionka, Kamienna, Czarna Konecka, and Nida valleys. The development of the “anthropogenic small-scale water retention system” (ASWRS), including numerous artificial ponds, channels, and forges and mills along the watercourses, resulted in changes in river patterns, with additional anthropogenic channels, which in turn reduced the maximum flood-stage levels during the Little Ice Age. With the collapse of the industries and the disappearance of the ASWRS, several major flood events took place. Unknown in the earlier Holocene, and caused by hydrotechnical failures, the geomorphic effects of these catastrophic flash floods significantly exceeded those of natural processes.
Detrital zircon characterization of early Cambrian sandstones from East Avalonia and SE Ireland: implications for terrane affinities in the peri-Gondwanan Caledonides
Authors: WALDRON JOHN W.F. , SCHOFIELD DAVID I. , PEARSON GRAHAM , SARKAR CHIRANJEEB , LUO YAN , DOKKEN ROBERT 
Published: July 2018

AbstractThe Caledonides of Britain and Ireland include terranes attributed to both Laurentian and Gondwanan sources, separated along the Solway line. Gondwanan elements to the south have been variably assigned to the domains Ganderia and East Avalonia. The Midland Platform forms the core of East Avalonia but its provenance is poorly known. Laser ablation split-stream analysis yields information about detrital zircon provenance by providing simultaneous U–Pb and Lu–Hf data from the same ablated volume. A sample of Red Callavia Sandstone from uppermost Cambrian Stage 3 of the Midland Platform yields a U–Pb age spectrum dominated by Neoproterozoic and Palaeoproterozoic sources, resembling those in the Welsh Basin, the Meguma Terrane of Nova Scotia and NW Africa. Initial εHf values suggest that the Neoproterozoic zircon component was derived mainly from crustal sources &lt; 2 Ga, and imply that the more evolved Palaeoproterozoic grains were transported into the basin from an older source terrane, probably the Eburnean Orogen of West Africa. A sample from Cambrian Stage 4 in the Bray Group of the Leinster–Lakesman Terrane shows, in contrast, a distribution of both U–Pb ages and εHf values closely similar to those of the Gander Terrane in Newfoundland and other terranes attributed to Ganderia, interpreted to be derived from the margin of Amazonia. East Avalonia is clearly distinct from Ganderia, but shows evidence for older crustal components not present in West Avalonia of Newfoundland. These three components of the Appalachian–Caledonide Orogen came from distinct sources on the margin of Cambrian Gondwana.
Commit, hide and escape: the story ofPlasmodiumgametocytes
Authors: Beri Divya , Balan Balu , Tatu Utpal 
Published: July 2018

AbstractMalaria is the major cause of mortality and morbidity in tropical countries. The causative agent,Plasmodiumsp., has a complex life cycle and is armed with various mechanisms which ensure its continuous transmission. Gametocytes represent the sexual stage of the parasite and are indispensable for the transmission of the parasite from the human host to the mosquito. Despite its vital role in the parasite's success, it is the least understood stage in the parasite's life cycle. The presence of gametocytes in asymptomatic populations and induction of gametocytogenesis by most antimalarial drugs warrants further investigation into its biology. With a renewed focus on malaria elimination and advent of modern technology available to biologists today, the field of gametocyte biology has developed swiftly, providing crucial insights into the molecular mechanisms driving sexual commitment. This review will summarise key current findings in the field of gametocyte biology and address the associated challenges faced in malaria detection, control and elimination.
Phytoplankton in the embayments of King George Island (Antarctic Peninsula): a review with emphasis on diatoms
Authors: Lange Priscila Kienteca , Ligowski Ryszard , Tenenbaum Denise Rivera 
Published: July 2018

ABSTRACTConsidering that phytoplankton assemblages are good bioindicators of environmental conditions, the sensitivity of the Western Antarctic Peninsula (WAP) to climate change, and the importance of some areas of its islands as Antarctic Specially Managed Areas, this work assembles published datasets on phytoplankton biodiversity and ecology in confined coastal areas (embayments) of King George Island, WAP. Over 33 years (1980–2013), 415 species from 122 genera have been identified to species level, being mostly diatoms (371 species), with 10 new species described with local material (6 diatoms, 4 cyanobacteria). The importance of diatoms was indicated by the frequent occurrence ofCorethron pennatum,Pseudogomphonema kamtshaticum, and abundant benthic genera in the plankton (e.g.Navicula,Cocconeis). The increased contribution of dinoflagellates after 2010 suggests marked changes in the water column. Early-summer blooms differ between the bays' eastern and western shores, with terrestrial melting and wind-driven upwelling inducing the dominance of benthic species at eastern shores, whereas planktonic diatoms (Thalassiosira,Pseudo-nizschia, andChaetoceros) are most abundant along western shores and central areas. The importance of an accurate identification of organisms that are becoming key ecological components of the region is discussed, as recent changes in the microflora may affect the entire marine food web.