bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka
Authors: Javadiyan Shari , Lucas Sionne E. M. , Wangmo Dechen , Ngy Meng , Edussuriya Kapila , Craig Jamie E. , Rudkin Adam , Casson Robert , Selva Dinesh , Sharma Shiwani , Lower Karen M. , Meucke James , Burdon Kathryn P. 
Published: May 2018

AbstractBackgroundPediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations.MethodsWe screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing.ResultsWe identified 24 rare (frequency <1% in public databases) or novel protein coding variants in 12 probands and confirmed segregation of variants with disease in the extended family where possible. Of these, six are predicted to be the cause of disease in the patient, with four other variants also highly likely to be pathogenic.ConclusionThis study found that 20%–30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%–70% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.
Isodose feature‐preserving voxelization (IFPV) for radiation therapy treatment planning
Authors: Liu Hongcheng , Xing Lei 
Published: May 2018

PurposeInverse planning involves iterative optimization of a large number of parameters and is known to be a labor‐intensive procedure. To reduce the scale of computation and improve characterization of isodose plan, this paper presents an isodose feature‐preserving voxelization (IFPV) framework for radiation therapy applications and demonstrates an implementation of inverse planning in the IFPV domain.MethodsA dose distribution in IFPV scheme is characterized by partitioning the voxels into subgroups according to their geometric and dosimetric values. Computationally, the isodose feature‐preserving (IFP) clustering combines the conventional voxels that are spatially and dosimetrically close into physically meaningful clusters. A K‐means algorithm and support vector machine (SVM) runs sequentially to group the voxels into IFP clusters. The former generates initial clusters according to the geometric and dosimetric information of the voxels and SVM is invoked to improve the connectivity of the IFP clusters. To illustrate the utility of the formalism, an inverse planning framework in the IFPV domain is implemented, and the resultant plans of three prostate IMRT and one head‐and‐neck cases are compared quantitatively with that obtained using conventional inverse planning technique.ResultsThe IFPV generates models with significant dimensionality reduction without compromising the spatial resolution seen in traditional downsampling schemes. The implementation of inverse planning in IFPV domain is demonstrated. In addition to the improved computational efficiency, it is found that, for the cases studied here, the IFPV‐domain inverse planning yields better treatment plans than that of DVH‐based planning, primarily because of more effective use of both geometric and dose information of the system during plan optimization.ConclusionsThe proposed IFPV provides a low parametric representation of isodose plan without compromising the essential characteristics of the plan, thus providing a practically valuable framework for various applications in radiation therapy.
Direct estimation of 17O MR images (DIESIS) for quantification of oxygen metabolism in the human brain with partial volume correction
Authors: Kurzhunov Dmitry , Borowiak Robert , Reisert Marco , Özen Ali Caglar , Bock Michael 
Published: May 2018

PurposeTo provide a data post‐processing method that corrects for partial volume effects (PVE) and fast

decay in dynamic 17O MRI for the mapping of cerebral metabolic rates of oxygen consumption (CMRO2).MethodsCMRO2 is altered in neurodegenerative diseases and tumors and can be measured after 17O gas inhalation using dynamic 17O MRI. CMRO2 quantification is difficult because of PVE. To correct for PVE, a direct estimation of the MR images (DIESIS) method is proposed and used in 4 dynamic 17O MRI data sets of a healthy volunteer acquired on a 3T MRI system. With DIESIS, 17O MR signal time curves in selected regions were directly estimated based on parcellation of a coregistered 1H MPRAGE image.ResultsProfile likelihood analysis of the DIESIS method showed identifiability of CMRO2. In white matter (WM), DIESES reduced CMRO2 from 0.97 ± 0.25 µmol/gtissue/min with Kaiser‐Bessel gridding reconstruction to 0.85 ± 0.21 µmol/gtissue/min, whereas in gray matter (GM) it increases from 1.3 ± 0.31 µmol/gtissue/min to 1.86 ± 0.36 µmol/gtissue/min; both values are closer to the literature values from the 15O‐PET studies.ConclusionDIESIS provided an increased separation of CMRO2 values in GM and WM brain regions and corrected for partial volume effects in 17O‐MRI inhalation experiments. DIESIS could also be applied to more heterogeneous tissues such as glioblastomas if subregions of the tumor can be represented as additional parcels.
Accelerated 3D‐GRASE imaging improves quantitative multiple post labeling delay arterial spin labeling
Authors: Boland Markus , Stirnberg Rüdiger , Pracht Eberhard D. , Kramme Johanna , Viviani Roberto , Stingl Julia , Stöcker Tony 
Published: May 2018

PurposeTo investigate the impact of accelerated, single‐shot 3D‐GRASE acquisition on quantitative arterial spin labeling (ASL) with multiple and single post‐labeling delay (PLD) in terms of perfusion‐weighted SNR per unit scan time (TSNRPW) and quantification accuracy.MethodsFive subjects were scanned on a 3T MRI scanner using the pseudo‐continuous arterial spin labeling (PCASL) technique with a 3D‐GRASE imaging sequence capable of parallel imaging acceleration. A 3‐inversion pulse background suppression was simulated and implemented in the sequence. Three time‐matched single PLD measurements, a segmented one without acceleration, 1 with conventional GRAPPA, and 1 with CAIPIRINHA sampling, were used to compare TSNRPW. Three time‐matched multiple PLD measurements with the identical imaging parameters were additionally evaluated (no acceleration vs. CAIPIRINHA sampling vs. CAIPIRINHA sampling with doubled number of PLDs). Cerebral blood flow and arterial transit time fit uncertainties were compared and used as a quality measure.ResultsThe single PLD measurements show an 11% TSNRPW increase using CAIPIRINHA sampling instead of GRAPPA sampling, while the non‐accelerated scan exhibits 35% higher TSNRPW compared to the GRAPPA scan. However, taking advantage of the increased number of averages for multiple PLD acquisitions, a 14%/16% (gray matter) and 34%/36% (white matter) reduction of CBF fit uncertainty is observed with CAIPIRINHA sampling (6 PLDs/12 PLDs) compared to no acceleration.ConclusionAccelerated single‐shot 3D‐GRASE with PCASL allows for smaller quantification uncertainties than time‐matched segmented acquisitions. Corresponding single‐shot acquisitions with acceptable blurring and no intra‐volume motion render state‐of‐the‐art ASL methods in a clinically feasible time possible.
Effect of head motion on MRI B0 field distribution
Authors: Liu Jiaen , de Zwart Jacco A. , van Gelderen Peter , Murphy‐Boesch Joseph , Duyn Jeff H. 
Published: May 2018

PurposeTo identify and characterize the sources of B0 field changes due to head motion, to reduce motion sensitivity in human brain MRI.MethodsB0 fields were measured in 5 healthy human volunteers at various head poses. After measurement of the total field, the field originating from the subject was calculated by subtracting the external field generated by the magnet and shims. A subject‐specific susceptibility model was created to quantify the contribution of the head and torso. The spatial complexity of the field changes was analyzed using spherical harmonic expansion.ResultsMinor head pose changes can cause substantial and spatially complex field changes in the brain. For rotations and translations of approximately 5 º and 5 mm, respectively, at 7 T, the field change that is associated with the subject's magnetization generates a standard deviation (SD) of about 10 Hz over the brain. The stationary torso contributes to this subject‐associated field change significantly with a SD of about 5 Hz. The subject‐associated change leads to image‐corrupting phase errors in multi‐shot ‐weighted acquisitions.ConclusionThe B0 field changes arising from head motion are problematic for multishot ‐weighted imaging. Characterization of the underlying sources provides new insights into mitigation strategies, which may benefit from individualized predictive field models in addition to real‐time field monitoring and correction strategies.
Study on the coil–globule transition and dynamics of polymer chain confined in slit
Authors: Luo Meng‐Bo , Tian Ran‐Ran , Yang Xiao , Huang Jian‐Hua , Mamat Mamatrishat 
Published: May 2018

ABSTRACTThe coil–globule transition and dynamics of a lattice self‐avoiding bond fluctuation polymer chain confined in slit are studied by Monte Carlo simulations. The coil–globule transition temperature of polymer chain is increased at intermediate slit height H (H ∼ RG0 with RG0 the radius of gyration of polymer in dilute solution) due to the squeeze of the polymer in the repulsive slit, but it is decreased by surface attraction as the polymer is extended along the surface. We have compared the difference between the rotational relaxation time τR for the reorientation of end‐to‐end vector and the relaxation time τ for the polymer diffusing over a distance of the size of polymer. We find that τR is clearly distinct from τ as they have different scaling exponents in their slit height‐dependent behaviors
and
for the polymer in the extended coil state, that is, αR > α. And both exponents increase with an increase in the intrapolymer attraction and surface attraction. However, these scaling relations are destroyed by strong surface attraction when the polymer is adsorbed on surfaces. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part B: Polym. Phys. 2018, 56, 1053–1062
Child symptoms, parent behaviors, and family strain in long‐term survivors of childhood acute lymphoblastic leukemia
Authors: Huang I‐Chan , Brinkman Tara M. , Mullins Larry , Pui Ching‐Hon , Robison Leslie L. , Hudson Melissa M. , Krull Kevin R. 
Published: May 2018

AbstractObjectiveHow family environment and parental factors affect health status and symptoms in childhood cancer survivors is understudied. We examined the influence of family cohesion, parent distress, and overprotection on child symptom burden and health‐related quality of life (HRQOL) and family strain in survivors of childhood acute lymphoblastic leukemia.MethodsParents of 213 children treated with chemotherapy only completed a survey when survivors were at least 5‐year postdiagnosis. Family Environment Scale, Brief Symptom Inventory‐18, Parent Protection Scale, Pediatric Quality of Life Inventory, and Impact on Family were used to assess family cohesion, parental distress, overprotection, child symptom burden and HRQOL, and family strain, respectively. Path analysis was conducted to quantify effects of family cohesion on family strain through parental distress, overprotection, child symptoms, and HRQOL.ResultsLower family cohesion (β = 0.06, 95% CI, 0.01‐0.13), higher parental distress (β = 0.35, 95% CI, 0.20‐0.45), and overprotection (β = 0.17, 95% CI, 0.01‐0.32) were associated with more child symptom burden. More symptom burden were associated with poorer child HRQOL (β = 0.66, 95% CI, 0.57‐0.75), which in turn was associated with more family strain (β = 0.11, 95% CI, 0.01‐0.22). Lower maternal education was associated with overprotection (β = −0.23, 95% CI, −0.33 to −0.12), more child symptoms (β = −0.30, 95% CI, −0.41 to −0.16), poorer child HRQOL (β = −0.36, 95% CI, −0.46 to −0.21), and more family strain (β = −0.15, 95% CI, −0.23 to −0.08).ConclusionsFamily and parental factors contributed to health outcomes of childhood acute lymphoblastic leukemia survivors. Interventions to enhance family cohesion, decrease parental distress and overprotection, and ameliorate child symptoms may improve family functioning.
Micromechanical Investigation of Debonding Processes in Composite Solid Propellants
Authors: Li Gaochun , Wang Yufeng , Jiang Aiming , Yang Ming , Li JinFei 
Published: May 2018

AbstractThe micromechanical damage of a composite solid propellant was observed by in situ scanning electron microscopy. Based on the damage characteristics, a cohesive interfacial element was adopted to model the debonding processes along the particles and the binder interface. The effects of interfacial strength and microcracks in the binder on the debonding process of propellant were also examined. The results show that interfacial debonding is the propellant's main failure mode under tension. Finite element method analyses with a cohesive interfacial element could predict the heterogeneous strain and stress fields as well as the processes of the particles separated from the binder. Interfacial strength plays a significant role in macroscopic behaviors of the propellant. Microcracks in the binder significantly influence the debonding process. The numerical simulation results reasonably reflect the corresponding experimental results. These results provide the basis for the prediction of mechanical properties and the optimal design of the composite solid propellant.
X‐ray crystal structures of the type IVb secretion system DotB ATPases
Authors: Prevost Marie S. , Waksman Gabriel 
Published: May 2018

AbstractHuman infections by the intracellular bacterial pathogen Legionella pneumophila result in a severe form of pneumonia, the Legionnaire's disease. L. pneumophila utilizes a Type IVb secretion (T4bS) system termed “dot/icm” to secrete protein effectors to the host cytoplasm. The dot/icm system is powered at least in part by a functionally critical AAA+ ATPase, a protein called DotB, thought to belong to the VirB11 family of proteins. Here we present the crystal structure of DotB at 3.19 Å resolution, in its hexameric form. We observe that DotB is in fact a structural intermediate between VirB11 and PilT family proteins, with a PAS‐like N‐terminal domain coupled to a RecA‐like C‐terminal domain. It also shares critical structural elements only found in PilT. The structure also reveals two conformers, termed α and β, with an αβαβαβ configuration. The existence of α and β conformers in this class of proteins was confirmed by solving the structure of DotB from another bacterial pathogen, Yersinia, where, intriguingly, we observed an ααβααβ configuration. The two conformers co‐exist regardless of the nucleotide‐bound states of the proteins. Our investigation therefore reveals that these ATPases can adopt a wider range of conformational states than was known before, shedding new light on the extraordinary spectrum of conformations these ATPases can access to carry out their function. Overall, the structure of DotB provides a template for further rational drug design to develop more specific antibiotics to tackle Legionnaire's disease.PDB Code(s): Will; be; provided
Predator performance: inferring predator switching behaviors based on nutritional indices in a coccinellid–psylla–aphid system
Authors: Jalali M Amin , Mehrnejad M Reza , Ellsworth Peter C , Ranjbar Fateme , Ziaaddini Mahdi 
Published: May 2018

AbstractBACKGROUNDKnowledge of the nutritional ecology of predatory coccinellids is important for the selection of efficient biocontrol agents. We examined five species common in pistachio orchards and determined their nutritional indices
when fed on the key psylla pest of the system, Agonoscena pistaciae, in contrast to an alternative prey common on herbaceous plants in orchards, Aphis gossypii.RESULTSFeeding experiments revealed that Oenopia conglobata contaminata and Adalia bipunctata may be more efficient as biocontrol agents for A. pistaciae than for A. gossypii, as A. bipunctata had a high efficiency of conversion of ingested food and a high relative growth rate and O. conglobata contaminata had a high consumption index on psylla prey. In contrast, the nutritional indices of Coccinella undecimpunctata aegyptica, Hippodamia variegata and Exochomus nigripennis suggest that A. gossypii was a more suitable host food.CONCLUSIONWhere both the psyllids and the aphids occur in pistachio orchards, especially under conditions of unlimited access to A. gossypii, C. undecimpunctata aegyptica, H. variegata and E. nigripennis may prefer to move from psylla‐infested leaves of pistachio trees and travel to and stay on weeds to feed on A. gossypii. The value of using nutritional ecology as a means of understanding and predicting biocontrol outcomes and selecting better candidates for mass rearing is discussed. © 2018 Society of Chemical Industry
A Chinese route to sustainability: Postsocialist transitions and the construction of ecological civilization
Authors: Liu Chen , Chen Lily , Vanderbeck Robert M. , Valentine Gill , Zhang Mei , Diprose Kristina , McQuaid Katie 
Published: May 2018

AbstractThis article explores the concept of sustainability in a postsocialist context through an analysis of official discourses relating to sustainability in more than 700 articles published in the Chinese‐language newspaper People's Daily in 2015. The Chinese conception of sustainability, which emerges as a top‐down model built upon traditional ideologies and Chinese socialist legacies, inclusive of economic growth, environmental sustainability, social justice and quality of life. This Chinese official discourse of sustainability places less emphasis on individuals' rights and more on the state's interests, and is encompassed in the Chinese concept of the “ecological civilization.” This article argues that if we are to build a full picture of the internationalized idea of sustainability we need to adopt a more international approach to thinking about the issue, drawing upon the sustainability‐related discourses constructed from different national contexts using local languages and rhetoric.
Ultrahigh sensitivity SIMS analysis of oxygen in silicon
Authors: Jakiela R. , Barcz A. , Sarnecki J. , Celler G.K. 
Published: May 2018

We report on the detection of very low oxygen concentration in silicon by a secondary‐ion mass spectrometry (SIMS) method. Using a magnetic IMS 6F Cameca SIMS spectrometer and applying a very high primary Cs+ ion flux, prolonged presputtering, extensive vacuum chamber baking, titanium sublimation pump, and an LN trap, we have reached a detection limit of ~2 × 1015 O atoms/cm3 in chemical vapor deposition epitaxial Si films. This value appears to be at least 10 times lower than in any published or unpublished source known to the authors, including the reference sensitivities listed by the instrument manufacturer. Most likely, the key improvement that has allowed us to drive the detection limit to 1015 at/cm3 is the use of an ion pump in the analysis chamber. The working pressure in our analysis chamber is ~10−10 Thorr, ie, 1 decade lower than that the commercially equipped with a turbo pump. This paper demonstrates optimized analytical conditions for the oxygen measurements in Si, as a function of depth: (i) Very shallow profiles are practically impossible to measure accurately because of native oxide at the surface. (ii) Shallow‐to‐medium range profiles, up to ~20 μm, are the most amenable to SIMS measurements. (iii) Medium‐to‐deep (~20‐50 μm) range is required to follow interdiffusion and segregation in epitaxial layers when the oxygen‐free layer is grown on a CZ Si substrate. (iv) Extremely deep profiles, up to full thickness of the wafer, definitely necessitate beveling.
Effects of gold‐induced crystallization process on the structural and electrical properties of germanium thin films
Authors: Kabacelik Ismail , Kulakci Mustafa , Turan Rasit , Unal Nuri 
Published: May 2018

Gold‐induced (Au‐) crystallization of amorphous germanium (α‐Ge) thin films was investigated by depositing Ge on aluminum‐doped zinc oxide and glass substrates through electron beam evaporation at room temperature. The influence of the postannealing temperatures on the structural properties of the Ge thin films was investigated by employing Raman spectra, X‐ray diffraction, and scanning electron microscopy. The Raman and X‐ray diffraction results indicated that the Au‐induced crystallization of the Ge films yielded crystallization at temperature as low as 300°C for 1 hour. The amount of crystallization fraction and the film quality were improved with increasing the postannealing temperatures. The scanning electron microscopy images show that Au clusters are found on the front surface of the Ge films after the films were annealed at 500°C for 1 hour. This suggests that Au atoms move toward the surface of Ge film during annealing. The effects of annealing temperatures on the electrical conductivity of Ge films were investigated through current‐voltage measurements. The room temperature conductivity was estimated as 0.54 and 0.73 Scm−1 for annealed samples grown on aluminum‐doped zinc oxide and glass substrates, respectively. These findings could be very useful to realize inexpensive Ge‐based electronic and photovoltaic applications.
Subsurface investigation of the surface modification of polydimethylsiloxane by 172‐nm vacuum ultraviolet irradiation using ToF‐SIMS and VUV spectrometry
Authors: Hashimoto Yuki , Matsuzawa Satoshi , Yamamoto Takatoki 
Published: May 2018

We investigate the mechanism of polydimethylsiloxane (PDMS) surface modification by 172‐nm vacuum ultraviolet (VUV) light. Time‐of‐flight secondary ion mass spectrometry and optical spectrometry are used to measure the chemical composition and VUV transmittance of the PDMS before and after surface modification, respectively. For modified samples of bulk PDMS, the VUV transmittance and the depth of the modified region increased with increasing VUV dose. This can be explained by the following self‐reinforcing cycle of (1) modification of PDMS by VUV light to a more silica‐like composition, (2) improvement of the VUV light transparency, and (3) deeper modification. For thin‐film samples of PDMS formed on sapphire substrates, the transmittance at 172 nm also increased with increasing VUV dose and exceeded that of sapphire in the region from 172 to 300 nm. Finally, thin‐film samples of PDMS formed on silicon substrates, which function as a VUV reflector, were also investigated. For these samples, the secondary ion depth profiles for several chemical species in the PDMS were oscillatory, probably due to the interference of the incident and reflected VUV light. These results strongly suggest that the photon energy of the VUV light plays an important role in modifying PDMS.