bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dentinogenesis imperfecta type II‐ genotype and phenotype analyses in three Danish families
Authors: Taleb Kawther , Lauridsen Eva , Daugaard‐Jensen Jette , Nieminen Pekka , Kreiborg Sven 
Published: March 2018

AbstractBackgroundDentinogenesis imperfecta (DI) is a rare debilitating hereditary disorder affecting dentin formation and causing loss of the overlying enamel. Clinically, DI sufferers have a discolored and weakened dentition with an increased risk of fracture.The aims of this study were to assess genotype‐phenotype findings in three families with DI–II with special reference to mutations in the DSPP gene and clinical, histological, and imaging manifestations.MethodsNine patients participated in the study (two from family A, four from family B, and three from family C). Buccal swab samples were collected from all participants and extracted for genomic DNA. Clinical and radiographic examinations had been performed longitudinally, and the dental status was documented using photographic images. Four extracted and decalcified tooth samples were prepared for histological analysis to assess dysplastic manifestations in the dentin. Optical coherence tomography (OCT) was applied to study the health of enamel tissue from in vivo images and the effect of the mutation on the function and structure of the DSPP gene was analyzed using bioinformatics software programs.ResultsThe direct DNA sequence analysis revealed three distinct mutations, one of which was a novel finding. The mutations caused dominant phenotypes presumably by interference with signal peptide processing and protein secretion. The clinical and radiographic disturbances in the permanent dentition indicated interfamilial variability in DI–II manifestations, however, no significant intrafamilial variability was observed.ConclusionThe different mutations in the DSPP gene were accompanied by distinct phenotypes. Enamel defects suggested deficit in preameloblast function during the early stages of amelogenesis.
Parent pain catastrophizing predicts child depressive symptoms in youth with sickle cell disease
Authors: Goldstein‐Leever Alana , Cohen Lindsey L. , Dampier Carlton , Sil Soumitri 
Published: March 2018

AbstractBackgroundYouth with sickle cell disease (SCD) are at risk for recurrent pain and depressive symptoms, both of which contribute to poorer health outcomes. Furthermore, youth and family coping with child pain, including pain catastrophizing, is known to be associated with poorer psychosocial adjustment and greater functional disability among youth with SCD. In particular, child catastrophizing about pain and parent catastrophizing about their child's pain have been linked to increased pain and depressive symptoms in youth with chronic pain conditions. Despite this, the impact of child and parent pain catastrophizing on depressive symptoms remains unexplored in pediatric SCD.ProcedureThe current study evaluated the predictive value of child and parent pain catastrophizing on child depressive symptoms in a sample of 100 youth with SCD. Differences in child and parent pain catastrophizing across youth with and without clinically elevated depressive symptoms were also examined.ResultsPain frequency and parent and child pain catastrophizing accounted for 35.9% of variance in child depressive symptoms, with only pain frequency and parent pain catastrophizing emerging as unique predictors of clinically elevated depressive symptoms. Additionally, parents of youth with clinically elevated depressive symptoms showed increased helplessness relative to parents of youth with minimal to mild depressive symptoms.ConclusionsFindings support the value of depression screening and interventions to promote parent self‐efficacy in managing childhood SCD pain.
Phase 1 trial, pharmacokinetics, and pharmacodynamics of dasatinib combined with crizotinib in children with recurrent or progressive high‐grade and diffuse intrinsic pontine glioma
Authors: Broniscer Alberto , Jia Sujuan , Mandrell Belinda , Hamideh Dima , Huang Jie , Onar‐Thomas Arzu , Gajjar Amar , Raimondi Susana C. , Tatevossian Ruth G. , Stewart Clinton F. 
Published: March 2018

AbstractBackgroundProgressive/recurrent high‐grade and diffuse intrinsic pontine gliomas (DIPGs) are fatal. Treatments targeting molecular pathways critical for these cancers are needed.MethodsWe conducted a phase 1 study (rolling‐six design) to establish the safety and maximum tolerated dose (MTD) of dasatinib, an oral platelet‐derived growth factor receptor A (PDGFRA) inhibitor, and crizotinib, an oral c‐Met inhibitor, in such patients. Pharmacokinetics of both agents were performed. Biomarkers of cellular pathway activation in peripheral‐blood mononuclear cells (PBMC) were evaluated before and after administration of dasatinib. PDGFRA and MET amplification, and PDGFRA mutations were studied in tumor samples.ResultsTwenty‐five patients were enrolled in this study (median age: 11.9 years). Eleven patients had DIPG. Glioblastoma accounted for 40% of cases. Dasatinib at 50 mg/m2 and crizotinib at 130 mg/m2 or 100 mg/m2 were poorly tolerated when administered twice daily. Drug administration was then switched to once daily. Dasatinib administered at 50 mg/m2 and crizotinib at 215 mg/m2 once daily was the MTD. Dose‐limiting toxicities consisted of diarrhea, fatigue, proteinuria, hyponatremia, rash, and grade 4 neutropenia. Only two patients received therapy for at least 6 months. No objective radiologic responses were observed. Pharmacokinetics of dasatinib and crizotinib were comparable to previous studies. A statistically significant decrease in the ratio of p‐AKT/total AKT in PBMC occurred after dasatinib administration. PDGFRA and MET amplification were found in four and two cases, respectively. Only one of 10 tumors harbored a PDGFRA mutation.ConclusionsThis drug combination was poorly tolerated and its activity was minimal. We do not recommend further testing of this combination in children.
Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions
Authors: Lin Shaobin , Shi Shanshan , Zhou Yi , Ji Yuanjun , Huang Peizhi , Wu Jianzhu , Chen Baojiang , Luo Yanmin 
Published: March 2018

AbstractObjectiveTo investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion.MethodsThis study reviewed 2262 consecutive fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis between October 2014 and December 2016. Cases carrying the 16p11.2 recurrent microdeletion were further genetically analyzed, and their clinical features were reviewed.ResultsThe 16p11.2 recurrent microdeletion was identified in 12 fetuses, who had skeletal malformations (5/12), cardiovascular malformations (4/12), or isolated ultrasound markers (3/12). Approximately 0.5% (12/2262) of the fetuses with abnormal ultrasound findings harbored the deletion. The 5 fetuses with skeletal malformations displayed vertebral defects, particularly in the hemivertebra and butterfly vertebra. The detection rate of the 16p11.2 recurrent microdeletion was statistically significant (P < .05) among fetuses with skeletal malformations (3.6%, 5/140), fetuses with cardiovascular malformations (1.1%, 4/367), and fetuses with isolated ultrasound markers (0.4%, 3/702).ConclusionThe most frequent ultrasound findings in fetuses with 16p11.2 recurrent microdeletions are skeletal malformations (particularly vertebral malformations), followed by cardiovascular malformations, and isolated ultrasound markers.
Stapled ghrelin peptides as fluorescent imaging probes
Authors: Lalonde Tyler , Shepherd Trevor G. , Dhanvantari Savita , Luyt Leonard G. 
Published: March 2018

AbstractFluorescently labelled ghrelin is an effective imaging probe for ex vivo biopsy analysis, in vivo distribution studies, and cell‐based analyses. The objective of our study was to improve the receptor affinity and stability of this ghrelin probe through cyclization, thereby providing a chemical probe with advantages in specificity and sensitivity as compared to immunohistochemical approaches. Truncation of ghrelin to its first 20 essential binding amino acids simplifies chemical synthesis, but reduces the α‐helical content of the peptide, which is important for receptor recognition. To overcome this limitation, we used a “staple scan” to synthesize stable α‐helical cyclic ghrelin(1‐20) analogues using a lactam bridge in either the i, i + 4 or i, i + 7 position. Stapling improved helicity in every case when compared to the linear sequence; however, the binding affinity to the receptor was dependent on the staple position. The peptide with the greatest improvement resulted in a [θ]222/[θ]208 ratio of 0.84, and an IC50 of 7.85 nM. The lead analogue was fluorescently labeled on the C‐terminal lysine of the peptide and microscopy experiments confirmed receptor binding in cells expressing GHS‐R1a. We postulate that the lead stapled peptide can be used as a cancer cell‐specific fluorescent stain with potential research and clinical applications.
Covalent conjugation of cationic antimicrobial peptides with a β‐lactam antibiotic core
Authors: Li Wenyi , O'Brien‐Simpson Neil M. , Holden James A. , Otvos Laszlo , Reynolds Eric C. , Separovic Frances , Hossain Mohammed Akhter , Wade John D. 
Published: March 2018

AbstractTo combat the serious issue of increasing global antibiotic resistance, new antimicrobial therapies are urgently required. As one alternative, previously used antibiotics are being investigated for use in combination with more modern antibiotics including antimicrobial peptides. Towards this goal, 7‐aminocephalosporanic acid, the precursor to the conventional β‐lactam antibiotic, cephalosporin, and the related compound, 7‐aminodesacetoxycephalosporanic acid, were each chemically modified to enable their use in solid phase peptide synthesis for covalent conjugation via their 7‐amino group and a glycolic linker to the N‐terminus of a series of cationic antimicrobial peptides, MSI‐78, CA(1‐7)M(2‐9)NH2 and des‐Chex1‐Arg20. Chemically functionalized Cα‐Fm‐protected 7‐aminocephalosporanic acid and 7‐aminodesacetoxycephalosporanic acid building blocks were separately prepared and attached by their 7‐amino group to the N‐terminus of each peptide on the solid phase via a glutaric anhydride linker. The resulting conjugated AMPs were assessed for antibacterial activity against a panel of six Gram‐negative bacteria, including clinically isolated multi‐drug resistant (MDR) pathogens. Only the conjugated MSI‐78 analogues displayed significant activity against Acinetobacter baumannii and MDR A. baumannii 156 and enhanced activity against Klebsiella pneumoniae. Further work is required to optimize the conjugation of AMPs to 7‐cephalosporanic acid and/or 7‐aminodesacetoxycephalosporanic acid to universally induce an enhanced effect on killing of drug sensitive and MDR bacterial strains that are common causes of hospital‐acquired infections.
Hierarchical fiducial marker design for pose estimation in large‐scale scenarios
Authors: Wang Hao , Shi Zongying , Lu Geng , Zhong Yisheng 
Published: March 2018

AbstractIn this paper, a hierarchical fiducial marker, called HArCo, is designed to guarantee a smooth pose estimation for large‐scale applications. HArCo markers have a visually identifiable structure on multiple scales, so they can be used for consistent pose estimation across a range of altitudes. Experimental results are presented to validate the performance of the proposed methodologies; oscillating platform landing experiments were conducted to show the ability of HArCo to be used in real landing tasks on the deck of a ship.
The AutoSOAR autonomous soaring aircraft, part 1: Autonomy algorithms
Authors: Depenbusch Nathan T. , Bird John J. , Langelaan Jack W. 
Published: March 2018

AbstractAutonomous soaring has the potential to greatly improve both the range and endurance of small robotic aircraft. This paper describes an autonomous soaring system that generates a dynamic map of lift sources (thermals) in the environment and uses this map for online flight planning and decision making. Components of the autonomy algorithm include thermal mapping, explore/exploit decision making, navigation, optimal airspeed computation, thermal centering control, and energy state estimation. A finite state machine manages the aircraft behavior during flight and determines when changing behavior is appropriate. A complete system to enable autonomous soaring is described with special attention paid to practical considerations encountered during flight testing. A companion paper describes the hardware implementation of this system and the results of a flight test campaign conducted at Aberdeen Proving Ground in September 2015.
Necklace‐Like Silicon Carbide and Carbon Nanocomposites Formed by Steady Joule Heating
Authors: Xie Hua , Fu Kun , Yang Chunpeng , Yao Yonggang , Rao Jiancun , Zhou Yubing , Liu Boyang , Kirsch Dylan , Hu Liangbing 
Published: March 2018

AbstractSilicon carbide (SiC)/carbon nanocomposites exhibit outstanding physical properties as well as chemical stability and can be utilized in a variety of potential applications. To synthesize SiC/C nanocomposites requires high specific surface area, moderate agglomeration, and good interfacial interaction with the substrate. However, the synthesis of these desired SiC/C nanocomposites requires amelioration in two critical aspects—improving the bond strength between C and SiC and dispersing SiC homogenously to avoid agglomeration. In this work, a Joule heating method is used to synthesize SiC/C necklace‐like nanocomposite fibers from electrospun C/Si nanofibers. A controlled current is induced to heat the C/Si nanofibers to ≈2000 K, promoting the in situ reaction between Si nanoparticles and carbon fibers to create SiC nanoparticles. SiC nanoparticles are uniformly formed in the composites with high specific surface area and strong bonding with the carbon nanofibers. The synthesis of SiC demonstrates feasibility toward in situ fabrication of unagglomerated carbide nanoparticles on a carbon‐based nanofiber with desirable interconnection bond strength.
Quantifying Seining Detection Probability for Fishes of Great Plains Sand‐Bed Rivers
Authors: Mollenhauer Robert , Logue Daniel , Brewer Shannon K. 
Published: March 2018

AbstractSpecies detection error (i.e., imperfect and variable detection probability) is an essential consideration when investigators map distributions and interpret habitat associations. When fish detection error that is due to highly variable instream environments needs to be addressed, sand‐bed streams of the Great Plains represent a unique challenge. We quantified seining detection probability for diminutive Great Plains fishes across a range of sampling conditions in two sand‐bed rivers in Oklahoma. Imperfect detection resulted in underestimates of species occurrence using naïve estimates, particularly for less common fishes. Seining detection probability also varied among fishes and across sampling conditions. We observed a quadratic relationship between water depth and detection probability, in which the exact nature of the relationship was species‐specific and dependent on water clarity. Similarly, the direction of the relationship between water clarity and detection probability was species‐specific and dependent on differences in water depth. The relationship between water temperature and detection probability was also species dependent, where both the magnitude and direction of the relationship varied among fishes. We showed how ignoring detection error confounded an underlying relationship between species occurrence and water depth. Despite imperfect and heterogeneous detection, our results support that determining species absence can be accomplished with two to six spatially replicated seine hauls per 200‐m reach under average sampling conditions; however, required effort would be higher under certain conditions. Detection probability was low for the Arkansas River Shiner Notropis girardi, which is federally listed as threatened, and more than 10 seine hauls per 200‐m reach would be required to assess presence across sampling conditions. Our model allows scientists to estimate sampling effort to confidently assess species occurrence, which maximizes the use of available resources. Increased implementation of approaches that consider detection error promote ecological advancements and conservation and management decisions that are better informed.
Complex Langevin simulation of a random matrix model at nonzero chemical potential
Authors: Bloch J. , Glesaaen J. , Verbaarschot J. J. M. , Zafeiropoulos S. 
Published: March 2018

AbstractIn this paper we test the complex Langevin algorithm for numerical simulations of a random matrix model of QCD with a first order phase transition to a phase of finite baryon density. We observe that a naive implementation of the algorithm leads to phase quenched results, which were also derived analytically in this article. We test several fixes for the convergence issues of the algorithm, in particular the method of gauge cooling, the shifted representation, the deformation technique and reweighted complex Langevin, but only the latter method reproduces the correct analytical results in the region where the quark mass is inside the domain of the eigenvalues. In order to shed more light on the issues of the methods we also apply them to a similar random matrix model with a milder sign problem and no phase transition, and in that case gauge cooling solves the convergence problems as was shown before in the literature.
Maximally supersymmetric AdS solutions and their moduli spaces
Authors: Lüst Severin , Rüter Philipp , Louis Jan 
Published: March 2018

AbstractWe study maximally supersymmetric AdSDsolutions of gauged supergravities in dimensionsD≥ 4. We show that such solutions can only exist if the gauge group after spontaneous symmetry breaking is a product of two reductive groupsHR×Hmat, whereHRis uniquely determined by the dimensionDand the number of supersymmetries$$ \mathcal{N} $$NwhileHmatis unconstrained. This resembles the structure of the global symmetry groups of the holographically dual SCFTs, whereHRis interpreted as the R-symmetry andHmatas the flavor symmetry. Moreover, we discuss possible supersymmetry preserving continuous deformations, which correspond to the conformal manifolds of the dual SCFTs. Under the assumption that the scalar manifold of the supergravity is a symmetric space we derive general group theoretical conditions on these moduli. Using these results we determine the AdS solutions of all gauged supergravities with more than 16 real supercharges. We find that almost all of them do not have supersymmetry preserving deformations with the only exception being the maximal supergravity in five dimensions with a moduli space given by SU(1,1)/U(1). Furthermore, we determine the AdS solutions of four-dimensional$$ \mathcal{N} $$N= 3 supergravities and show that they similarly do not admit supersymmetric moduli.
A Morally Permissible Moral Mistake? Reinterpreting a Thought Experiment as Proof of Concept
Authors: Emmerich Nathan , Gordjin Bert 
Published: March 2018

Abstract
This paper takes the philosophical notion of suberogatory acts or morally permissible moral mistakes and, via a reinterpretation of a thought experiment from the medical ethics literature, offers an initial demonstration of their relevance to the field of medical ethics. That is, at least in regards to this case, we demonstrate that the concept of morally permissible moral mistakes has a bearing on medical decision-making. We therefore suggest that these concepts may have broader importance for the discourse on medical ethics and should receive fuller consideration by those working the field. The focus of the discussion we present is on a particular thought experiment originally presented by Sulmasy and Sugarman. Their case formed the basis of an exchange about the moral equivalence of withdrawing and withholding life-saving treatment. The analysis Sulmasy and Sugarman set out is significant because, contrary to common bioethical opinion, it implies that the difference between withdrawing and withholding life-saving treatment holds, rather than lacks, moral significance. Following a brief discussion of rejoinders to Sulmasy and Sugarman’s article, we present a constructive reinterpretation of the thought experiment, one that draws on the idea of suberogatory acts or “morally permissible moral mistakes.” Our analysis, or so we suggest, accounts for the differing moral intuitions that the case prompts. However, it also calls into question the degree to which this thought experiment can be thought of as illustrating the moral (non)equivalence of withdrawing and withholding life-saving treatment. Rather, we conclude that it primarily illuminates something about the ethical parameters of healthcare when family members, particularly parents, are involved in decision-making.
Taxonomic status of some species of Aspidostomatidae (Bryozoa, Cheilostomata) from the Oligocene and Miocene of Patagonia (Argentina)
Authors: Pérez Leandro M. , López-Gappa Juan , Griffin Miguel 
Published: March 2018

AbstractThe bryozoan genusAspidostomaHincks, 1881 has been regarded as the only representative of the Aspidostomatidae Jullien, 1888 in Argentina to date. Its type species,Aspidostoma giganteum(Busk, 1854), is presently distributed in the Magellanic Region (Argentina and Chile) and has been recorded in Oligocene and Miocene fossil deposits of Santa Cruz and Chubut, respectively. New material from San Julián (late Oligocene), Monte León (early Miocene), Chenque (early to middle Miocene), and Puerto Madryn (late Miocene) formations suggests, however, thatA. giganteumis not represented in the fossil record. Material from Puerto Madryn Formation previously regarded asA. giganteumis here recognized asAspidostoma roveretoinew species.Aspidostoma ortmanniCanu, 1904 is revalidated for the species from the San Julián Formation.Aspidostoma armatumnew species andAspidostoma tehuelchenew species are introduced for material from the Monte León and Chenque formations, respectively.Aspidostoma incrustansCanu, 1908, from the early Miocene, is redescribed.MelychocellaGordon and Taylor, 1999, which differs fromAspidostomain having vicarious avicularia and lacking a median ridge and a quadrangular process proximal to the opesia-orifice, is so far represented by three Paleogene species from the Chatham Islands (Southwest Pacific). The material from Monte León allowed us to transferAspidostoma flammulumCanu, 1908 toMelychocella, resulting in the new combinationMelychocella flammula(Canu, 1908).Melychocella biperforatanew species is described from the lower Miocene Monte León and Chenque formations. The presence ofMelychocellain the Neogene of Patagonia extends its geographic distribution and its temporal range.UUID:http://zoobank.org/d84df2d8-cab2-4e74-82b8-7c67d938a58f