bluuebunny/crossref_metadata_2025_split huggingface dataset:
What Genomic Sequencing Can Offer Universal Newborn Screening Programs
Authors: Powell Cynthia M. 
Published: August 2018

AbstractMassively parallel sequencing, also known as next‐generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries—and it is under study for broader and more widespread use, including as a core part of newborn screening programs. Sequencing technology has the potential to significantly improve these essential public health programs. For many of the conditions that newborns are already screened for, sequencing can return more specific and more sensitive results. The technology could also enable newborn screening programs to expand the list of rare pediatric conditions that they look for, thereby identifying more infants who can benefit from immediate care.
My Diagnostic Odyssey—A Call to Expand Access to Genomic Testing for the Next Generation
Authors: Michelson Jeremy 
Published: August 2018

AbstractI attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth.
Interaction of triorganotin(IV) moiety with quinolone antibacterial drug ciprofloxacin: Synthesis, spectroscopic investigation, electronic structure calculation, and biological evaluation
Authors: Joshi Rachana , Yadav Swatantra K. , Mishra Hirdyesh , Pandey Nidhi , Tilak Ragini , Pokharia Sandeep 
Published: August 2018

AbstractNew triorganotin(IV) derivatives of ciprofloxacin (HL) with general formula R3Sn(L) (where R = Me (1)/Cy (2) and L is the monoanion of ciprofloxacin) have been synthesized and structurally characterized on the basis of elemental analysis, IR, Raman, multinuclear (1H‐, 13C‐ and 119Sn‐) NMR, ESI‐MS, UV‐Visible, and emission spectroscopy. A distorted trigonal bipyramidal geometry around tin has been tentatively proposed for these triorganotin(IV) derivatives in which the ligand may act as monoanionic bidentate coordinating through the Ocarboxylate and Opyridone. The proposed structure has been validated by density functional theory (DFT)‐based electronic structure calculations at B3LYP/6‐31G(d,p)/Def2‐SVP(Sn) level of theory. The atomic charges have been calculated at the selected atoms, and the reactive sites have been assigned on the surface of the molecules through molecular electrostatic potential map. The frontier molecular orbitals and selected conceptual‐DFT‐based global reactivity descriptors have been calculated to obtain an insight into the structure and reactivity behavior of the complexes. A comparative analysis of the experimental vibrational frequencies and simulated harmonic frequencies indicates good correlation between them. The complexes were screened for their in vitro antibacterial activity against two Gram‐positive and five Gram‐negative bacterial strains. The results revealed that both the complexes exhibited promising antibacterial activity against the chosen strains (MIC: 0.062‐0.125 μg/mL).
Sustained‐release ruxolitinib: Findings from a phase 1 study in healthy subjects and a phase 2 study in patients with myelofibrosis
Authors: Verstovsek Srdan , Yeleswaram Swamy , Hou Kevin , Chen Xuejun , Erickson‐Viitanen Sue 
Published: August 2018

AbstractRuxolitinib is the first Janus kinase (JAK) inhibitor approved for the treatment of myelofibrosis, where its efficacy is often associated with cytopenia. It is possible that the severity of cytopenia is in part driven by Cmax. A once‐daily sustained‐release (SR) formulation of ruxolitinib was therefore developed to decrease the Cmax/Cmin ratio relative to twice‐daily immediate‐release (IR) ruxolitinib. An SR formulation was identified based on pharmacokinetic evaluation in a phase 1 study in healthy adults (N = 9). This was followed by an open‐label phase 2 study in patients with myelofibrosis (N = 41). Ruxolitinib SR treatment was well tolerated with blood cell counts relatively unchanged through week 16. In terms of efficacy, 7 patients (17.1%) had clinical improvement and 33 (80.5%) had stable disease. While this study has raised the possibility of an increased therapeutic index for ruxolitinib via an SR formulation, further studies are required to validate the hypothesis.
Ethical Validation: Reframing Research Ethics in Engineering Education Research To Improve Research Quality
Authors: Sochacka Nicola W. , Walther Joachim , Pawley Alice L. 
Published: August 2018

AbstractBackgroundPrior to undertaking studies involving human subjects, engineering education researchers are required to consider the ethical implications of their work by obtaining approval from an ethical review board.Purpose/HypothesisRecent research suggests that some unintended consequences of this procedure are that it externalizes and inflexibly formalizes ethical considerations, and limits researchers’ readiness to systematically identify and consider ethical questions that arise while conducting research.Design/MethodWe used a collaborative inquiry approach to examine such ethically important moments that emerged in two of our interpretive research projects. We drew on Walther, Sochacka, and Kellam's framework for interpretive research quality as the departure point for our shared sense‐making process.ResultsOur explorations revealed two insights that connect research ethics to research quality in novel ways. First, we found that the quality of our work improved when we critically explored the intersections between our motivations and intentions for investigating particular research topics and broader cultural agendas and assumptions. Second, we found that when we actively sought to do justice to the participants, co‐investigators, and readers of our research, we were afforded with opportunities to increase the quality of our work, in sometimes quite unexpected ways.ConclusionsWe synthesized the findings from our collaborative inquiry into a process‐oriented model for ethical validation, which we propose as a sixth construct to our prior five‐construct framework for interpretive research quality.
Dietary exclusion of fructose and lactose after positive breath tests improved rapid‐transit constipation in children
Authors: Waingankar Kasturi , Lai Christoper , Punwani Vishal , Wong Jeremy , Hutson John M , Southwell Bridget R 
Published: August 2018

AimsExclusion of fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAPs) from the diet is effective in alleviating symptoms of irritable bowel syndrome (IBS) in adults. Rapid‐transit constipation (RTC) is a recently discovered subset of chronic constipation and has been linked to food intolerance. The aim of this study was to audit the effect of specific FODMAP elimination diets in children with RTC.MethodsThis was an audit of children presenting to a tertiary children's hospital surgeon with refractory chronic constipation who had rapid transit in the proximal colon on nuclear imaging; had hydrogen/methane breath tests for fructose, lactose, and/or sorbitol intolerance; and were advised to exclude positive sugar under clinical supervision. Patients filled in a questionnaire rating severity of constipation, abdominal pain, and pain on defecation with a visual analogue scale (VAS, 0 = none, 10 = high) and stool consistency for 6 months before and after dietary exclusion.ResultsIn responses from 29 children (5–15 years, 21 males), 70% eliminated fructose, and 40% eliminated lactose. There was a significant reduction in the severity of constipation (VAS mean ± SEM, pre 5.8 ± 0.5 vs post 3.3 ± 0.6, P < 0.0001), abdominal pain (5.1 ± 0.6 vs 2.8 ± 0.5, P = 0.0004), pain on defecation (5.8 ± 0.6 vs 2.6 ± 0.5, P < 0.0001), and increase in stool wetness (Bristol Stool Scale pre 3.3 ± 0.3 vs post 3.9 ± 0.2, P = 0.004).ConclusionChildren with RTC showed significant improvements in constipation and pain after excluding the sugar indicated by positive breath tests, suggesting that specific sugar‐exclusion diets may have a role in the management of RTC in children.
The early ontogeny of carapace armoring in hawksbill sea turtles (Eretmochelys imbricata), with comparisons to its close relatives (Loggerhead, Caretta caretta; Kemp's ridley, Lepidochelys kempii)
Authors: Salmon Michael , Coppenrath Christina , Higgins Benjamin 
Published: August 2018

AbstractIn this study, we compare and contrast armoring strategies during early ontogeny among three related species of marine turtles: the hawksbill, a species that diverged about 29 mya from the loggerhead and Kemp's ridley, which diverged from one another about 16 mya. Our purpose was to determine whether there was a correlation between divergence time and the evolution of unique morphological armoring specializations among these species. To find out, we completed a more detailed analysis of shell morphology for all of the species that revealed the following patterns. First, each species has evolved a somewhat different armoring strategy, suggesting that shell morphological evolution is surprisingly flexible. Second, hawksbills possess armoring features that are unique among all marine turtle species, suggesting a correlation between divergence through time and divergence in morphology. However, hawksbills also frequent coral reefs and selection pressures promoting their survival in those habitats may also have shaped their unique morphology. In contrast, loggerhead and Kemp's ridley turtles share similar armoring features that differ primarily in when during ontogeny they appear and in their degree of expression. Third, the armoring adaptations shown generally by juvenile marine turtles resemble those found among marine fishes of comparable size, probably because both small turtles and fishes are exposed to similar predators that promote evolutionarily similar adaptations.
Synthesis of florisil materials modified with aliphatic or aromatic groups and the application for pipette‐tip solid‐phase extraction of rutin in orange peel
Authors: Sun Liping , Ma Yuxin , Wang Hongying , Zhu Tao 
Published: August 2018

AbstractAfter being coupled, florisil was modified with four kinds of aliphatic or aromatic groups and were applied to the determination of rutin in orange peel sample by a pipette‐tip solid‐phase extraction method. The materials were characterized by scanning electron microscopy, Fourier transform infrared spectroscopy, thermogravimetric analysis and specific surface area by Brunauer Emmett Teller N2 adsorption desorption analysis. Florisil and five modified materials were tested by static adsorption, and the result showed that the material with 4‐bromoanisole had the best adsorption amount for rutin. Under optimum conditions: 4 mg of the adsorbent, 1 mL of MeOH as washing solvent, and 1 mL of MeOH/acetic acid (85:15, v/v) as elution solvent were used in the pipette‐tip solid‐phase extraction procedure. The calibration graphs of rutin in MeOH were linear over 1–200 μg/mL, and the limits of detection and quantification were 0.13 and 0.42 μg/mL. The method recoveries of rutin were in the range of 83.66–98.40% with associated intra‐ and interday relative standard deviations in the range of 1.31–3.50% and 1.04–2.03%, respectively. The material with 4‐bromoaniline showed satisfactory results (recovery: 98.40%). It was potential for the rapid purification of rutin in orange peel sample combined with pipette‐tip solid‐phase extraction.
Effects of test procedures and lithology on estimating the mode I fracture toughness of rocks using empirical relations
Authors: Bao H. , Wu F.Q. , Niu J.R. 
Published: August 2018

AbstractEmpirical estimation is a common method for getting mode I fracture toughness KIC of rock. By collecting data from tests in this study and literature, 204 sets of KIC and tensile strength σt test data are obtained for new empirical KIC‐σt relations regression. The empirical relations make the estimation of KIC values from σt conveniently, but test procedures and lithology will influence its reasonability and reliability. Results indicate that the empirical KIC‐σt relations obtained from the four different suggested KIC test methods are all in good but obviously different linear relationship. The analyses show that cracked chevron notch Brazilian disc specimen (CCNBD) test‐based empirical relation is more accurate for estimating KIC than the other three test‐based empirical relations. As to different lithology, isotropic rocks such as sandstone and carbonatite may be more appropriate for the application of empirical estimation method. However, for coarse grained or anisotropic rocks such as granite and marble, estimation method should be applied carefully because of possibly weak KIC‐σt relations.
Genomic landscape and mutational impacts of recurrently mutated genes in cancers
Authors: Liu Baolin , Hu Fei‐Fei , Zhang Qiong , Hu Hui , Ye Zheng , Tang Qin , Guo An‐Yuan 
Published: August 2018

AbstractBackgroundCancer genes tend to be highly mutated under positive selection. Better understanding the recurrently mutated genes (RMGs) in cancer is critical for explicating the mechanisms of tumorigenesis and providing vital clues for therapy. Although some studies have investigated functional impacts of RMGs in specific cancer types, a comprehensive analysis of RMGs and their mutational impacts across cancers is still needed.MethodsWe obtained data from The Cancer Genome Atlas (TCGA) and calculated mutation rate of each gene in 31 cancer types. Functional analysis was performed to identify the important signaling pathways and enriched protein types of RMGs. In order to evaluate functional impacts of RMGs, differential expression, survival, and pairwise mutation patterns analyses were performed.ResultsTotally, we identified 897 RMGs and 624 of them were specifically mutant in only a single cancer type. Functional analysis demonstrated that these RMGs were enriched in hydrolases, cytoskeletal protein, and pathways like MAPK, cell cycle, PI3K‐Akt, ECM receptor interaction, and energy metabolism. The differentially expressed genes potentially affected by the same common RMG showed a relatively low overlap across different cancer types. For the 19 Mucin (MUC) family genes, nine of them were RMGs and four of them (MUC17, MUC5B, MUC4, and MUC16) were common RMGs shared in 8 to 17 cancer types. The results showed that recurrent mutations in MUC genes were significantly associated with better survival prognosis. Only a small part of RMGs was differentially expressed due to their own mutations and most of them were downregulated. In addition, pairwise mutation pattern analysis revealed the high frequency of co‐occurred mutations among RMGs in STAD.ConclusionThrough the functional analysis of RMGs, we found that six signaling pathways were disrupted in most cancer types and that energy metabolism was abnormal in tumors. The results also revealed a strong correlation between recurrently mutated genes from MUC family and human survival. In addition, gene expression and survival prognosis were associated with different mutation types of RMGs.
Modified back‐projection method in acoustic resolution‐based photoacoustic endoscopy for improved lateral resolution
Authors: Wang Bo , Wei Ningning , Peng Kuan , Xiao Jiaying 
Published: August 2018

PurposeAcoustic resolution photoacoustic endoscopy (ARPAE) is an emerging tool for gastrointestinal tract and esophagus imaging. However, high resolution over large depth of field in ARPAE is still a challenge to be addressed due to the usage of fixed‐focus transducers.MethodsTo solve this problem, a modified back‐projection reconstruction algorithm is proposed in this work, which was demonstrated in two dimensions (2D). By employing data from multiple transducer positions and at the meantime considering the geometry of the transducer detection surface, this method offers a significantly improved lateral resolution throughout the imaging depth. The proposed method was evaluated with extensive numerical simulations and phantom experiments.ResultsNumerical simulations showed that the depth of focus (DOF) is greatly improved with our proposed method. Results also indicated that the improvement of the lateral resolution is more notable when the transducer has larger numerical aperture (NA) and higher central frequency, and the transducer focus is placed further from the rotation center. Experimental data further indicate there is a 30% to 40% improvement in the lateral resolution of targets in the out‐of‐focus region with our proposed new method.ConclusionThis work can readily be employed in most current ARPAE systems to improve the obtained image quality, and may promote the advancement of ARPAE toward clinical applications.
Weak Gravity Conjecture From Low Energy Observers' Perspective
Authors: Furuuchi Kazuyuki 
Published: August 2018

AbstractThe Weak Gravity Conjecture (WGC) was proposed to constrain Effective Field Theories (EFTs) with Abelian gauge symmetry coupled to gravity. In this article, I study the WGC from low energy observers' perspective, and revisit the issue of to what extent the WGC actually constrains EFTs. For this purpose, for a given EFT, I introduce associated idealized low energy observers who only have access to the energy scale below the UV cut‐off scale of the EFT. In the framework of EFT, there is a clear difference between the particles lighter than the UV cut‐off scale and the particles which are heavier than the UV cut‐off scale, as the lighter particles can be created below the UV cut‐off scale while the heavier particles are not. This difference implies that the knowledge of the low energy observers on the stable heavy particles can be limited, as the availability of the stable heavy particles is determined by the environment prepared by some UV theory unknown to the low energy observers. The limitation of the knowledge of the low energy observers regarding the stable heavy particles whose mass is above the UV cut‐off scale of the EFT leads to the limitation of the WGC for constraining EFTs. To illustrate these points in an example, I analyze a model proposed by Saraswat[1] which respects the WGC at high energy, but which may appear to violate the WGC for the low energy observers. Implications of the analysis to the bottom‐up model buildings using EFTs are discussed.
Comparisons of bin and bulk microphysics schemes in simulations of topographic winter precipitation with radar and radiometer measurements
Authors: Han Mei , Braun Scott A. , Matsui Toshihisa , Iguchi Takamichi 
Published: August 2018

The Hebrew University Cloud Model (HUCM) bin scheme and the Thompson bulk scheme in the Weather Research and Forecasting (WRF) model are compared to assess biases often found in simulated brightness temperature and radar reflectivity. Compared to our preceding study that evaluated several bulk schemes in the WRF model, the current study obtains a reduction of the bias from excessive microwave scattering by precipitation ice for both HUCM bin and the Thompson bulk microphysics schemes for a topographic winter precipitation event associated with an atmospheric river. The Thompson particle size distributions (PSDs) and snow particle density assumption are implemented into the Goddard Satellite Data Simulator Unit (G‐SDSU) and have produced improvements. Despite the greater sophistication of the bin scheme in representing cloud and precipitation processes, the simulation with the Thompson bulk scheme is generally in better agreement with observations for this winter event.The explicitly resolved hydrometeor PSDs in HUCM enable analysis of mass spectra variations in response to changes in microphysics assumptions. Two HUCM sensitivity runs tested the enhancement of snow particle breakup and the influence of ice nuclei (IN) concentration. Higher IN concentration resulted in increased snow mass and broadened the spectrum toward small‐size particles. Modified snow mass spectra and resultant changes in graupel contributed to modifications in scattering and reflectivity simulations. The article demonstrates the bin scheme's capability to provide a new means to improve our understanding of uncertainties in mesoscale weather models and radiative transfer models.
Highly Efficient Bifunctional Electrocatalyst Using Structurally Architectured N‐doped Cobalt Oxide
Authors: Mers Sathianesan Vimala Sheen , Maruthapandian Viruthasalam , Ganesh Venkatachalam 
Published: August 2018

AbstractIn this work, N‐doped cobalt oxide (Co3O4) is prepared in the forms of cubes and spheres using dopamine as a nitrogen source and its application as a bifunctional electrocatalyst for oxygen evolution reaction (OER) and hydrogen evolution reaction (HER) associated with alkaline water electrolysis is demonstrated. Initially dopamine incorporated two dimensional Co3O4 aggregates are prepared using wet chemical method and subsequently annealed at two different temperatures namely 200°C and 400°C. Depending upon the annealing temperature, resultant materials showed varied structural morphology which influences their electrocatalytic behaviour. Electrocatalytic activities of two important reactions associated with water splitting reaction namely OER and HER are systematically investigated by grafting such materials onto Ni foam. Among the two, CoDA‐400 sample exhibited higher bifunctional activity for OER and HER applications when compared to CoDA‐200. Interestingly, CoDA‐400 displays a lower overpotential of 378 mV for obtaining 100 mA/cm2 current density towards OER and shows a lower overpotential of 147 mV for obtaining 10 mA/cm2 current density towards HER enabling its potential use as a promising bifunctional electrocatalyst. Moreover, this particular material exhibits appreciable long‐term stability for both these electrocatalytic processes. The difference in catalytic activity is assigned to the presence of oxygen vacancies, doped graphene like structures and Co−N bonds present in the resultant product.
From Exceptional Properties to Stability Challenges of Perovskite Solar Cells
Authors: Gholipour Somayeh , Saliba Michael 
Published: August 2018

AbstractThe discovery and development of organic–inorganic halide perovskites with exceptional properties has become an active research area in the field of photovoltaics. Perovskite solar cells (PSCs) have attracted much attention in recent years due to various attractive advantages, such as simple solution processing, low manufacturing cost, and high performances with power conversion efficiencies now reaching certified values close to 23% within a very short time frame of five years. Despite this rapid progress, the inferior device stability remains a great challenge. This review focuses on the factors limiting the stability of PSCs, such as humidity, heat, and irradiation, summarizing recent strategies to overcome stability and fabrication obstacles in order to open new perspectives to achieve highly durable perovskite devices toward future industrialization.