bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
Authors: Abicht Angela , Scharf Florentine , Kleinle Stephanie , Schön Ulrike , Holinski‐Feder Elke , Horvath Rita , Benet‐Pagès Anna , Diebold Isabel 
Published: November 2018

AbstractBackgroundThe diagnosis of mitochondrial disorders is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next‐Generation Sequencing (NGS) technology offers a robust high‐throughput platform for nuclear and mitochondrial DNA (mtDNA) analyses.MethodWe developed a custom Agilent SureSelect Mitochondrial and Nuclear Disease Panel (Mito‐aND‐Panel) capture kit that allows parallel enrichment for subsequent NGS‐based sequence analysis of nuclear mitochondrial disease‐related genes and the complete mtDNA genome. Sequencing of enriched mtDNA simultaneously with nuclear genes was compared with the separated sequencing of the mitochondrial genome and whole exome sequencing (WES).ResultsThe Mito‐aND‐Panel permits accurate detection of low‐level mtDNA heteroplasmy due to a very high sequencing depth compared to standard diagnostic procedures using Sanger sequencing/SNaPshot and WES which is crucial to identify maternally inherited mitochondrial disorders.ConclusionWe established a NGS‐based method with combined sequencing of the complete mtDNA and nuclear genes which enables a more sensitive heteroplasmy detection of mtDNA mutations compared to traditional methods. Because the method promotes the analysis of mtDNA variants in large cohorts, it is cost‐effective and simple to setup, we anticipate this is a highly relevant method for sequence‐based genetic diagnosis in clinical diagnostic applications.
Functional variants of the ATG7 gene promoter in acute myocardial infarction
Authors: Zhang Pei , Zhang Jie , Zhang Yexin , Wang Shuai , Pang Shuchao , Yan Bo 
Published: November 2018

AbstractBackgroundCoronary artery disease including acute myocardial infarction (AMI) is mainly caused by atherosclerosis, an inflammatory and metabolic disease. Autophagy has been demonstrated to play critical roles in lipid metabolism and inflammation. Altered autophagic activity has been reported in AMI patients. However, molecular basis for dysfunctional autophagy in AMI remains unexplained.MethodsIn this study, the promoter of the ATG7 gene, encoding a core protein for autophagy, was genetically and functionally analyzed in large cohorts of AMI patients (n = 355) and ethnic‐matched healthy controls (n = 363). Related molecular mechanisms were also explored.ResultsA total of 19 DNA sequence variants (DSVs) including single‐nucleotide polymorphisms (SNPs) were found in the ATG7 gene promoter. Two novel DSVs and five SNPs were only identified in AMI patients group. These DSVs and SNPs, except one SNP, significantly altered the transcriptional activity of the ATG7 gene promoter in both HEK‐293 and H9c2 cells (p < 0.05). Further electrophoretic mobility shift assay revealed that the DSVs and SNPs evidently affected the binding of transcription factors.ConclusionsATG7 gene DSVs and SNPs identified in AMI patients may alter the transcriptional activity of the ATG7 gene promoter and change ATG7 level, contributing to the AMI development as a rare risk factor.
Evidence for the reliability and preliminary validity of the Adult ADHD Self‐Report Scale v1.1 (ASRS v1.1) Screener in an adolescent community sample
Authors: Green Jennifer Greif , DeYoung Gerrit , Wogan Mary Ellen , Wolf Erika J. , Lane Kathleen Lynne , Adler Lenard A. 
Published: November 2018

AbstractObjectivesThere is a need for brief and publicly‐available assessments of attention deficit hyperactivity disorder (ADHD) easily administered in large‐scale survey efforts monitoring symptoms among adolescents. The ADHD Self‐Report Scale v1.1 (ASRS; Kessler et al., 2005) Screener, a six‐item measure of ADHD symptoms, is a valid and reliable screening instrument for ADHD among adults. The current study provides initial evidence for the reliability and validity of the ASRS Screener among a community sample of U.S. adolescents.MethodsMiddle and high school students in grades 6 through 12 (N = 2,472) completed the ASRS Screener, along with the Strengths and Difficulties Questionnaire (SDQ; Goodman, 2001) and several questions about school functioning.ResultsThe ASRS Screener demonstrated good internal consistency, with items captured by a single underlying latent variable, which was invariant across subsamples differing by gender. The ASRS Screener scores were associated with the SDQ subscale measuring hyperactivity/inattention (r = 0.58) and significantly less strongly associated with other SDQ subscale scores (r = −0.15–0.41). The ASRS Screener scores were also significantly associated with student‐reported school functioning.ConclusionFindings suggest directions for future research and provide preliminary support for use of the ASRS Screener as a brief tool for identifying symptoms of ADHD among adolescents.
Effects of Reaction Operation Policies on Properties of Core–Shell Polymer Supports Used for Preparation of Highly Active Biocatalysts
Authors: Pinto Martina Costa Cerqueira , de Souza e Castro Nathany Lisbôa , Cipolatti Eliane Pereira , Fernandez‐Lafuente Roberto , Manoel Evelin Andrade , Freire Denise Maria Guimarães , Pinto José Carlos 
Published: November 2018

AbstractCore–shell polymer supports with different morphological features and compositions are prepared through combined suspension and emulsion polymerizations. It is shown that proper manipulation of the divinylbenzene (DVB) feed content allows for maximization of specific areas, porosities, and mechanical resistances. Additionally, it is shown that feeding of previously prepared miniemulsions leads to core–shell particles with smaller specific areas, due to less efficient coating of the cores. Particularly, the combined manipulation of polymerization times and DVB feed compositions allows for production of particles with pronounced specific area (50 m2 g−1) and porosity (0.30 cm3 g−1). Produced core–shell polymer particles are employed as supports for the immobilization of lipase B from Candida antarctica, and the obtained enzymatic activities for both hydrolysis (A
hyd) and esterification (A
est) reactions are very high (A
hyd = 34.7 ± 3.8 U/g; A
est = 3564.6 ± 581 U/g), even when compared to activities obtained using the reference commercial biocatalyst Novozym 435 (A
hyd = 7.6 ± 1.8 U/g, A
est = 2384.7 ± 307.2 U/g). Finally, biocatalysts prepared with the core–shell supports present higher enzymatic activities than biocatalysts prepared with supports of higher specific area obtained through conventional emulsion polymerizations, indicating that the porous structure of the shell can be beneficial for the immobilization and activity of the enzymes.
High resolution in‐vivo DT‐CMR using an interleaved variable density spiral STEAM sequence
Authors: Gorodezky Margarita , Ferreira Pedro F. , Nielles‐Vallespin Sonia , Gatehouse Peter D. , Pennell Dudley J. , Scott Andrew D. , Firmin David N. 
Published: November 2018

PurposeDiffusion tensor cardiovascular magnetic resonance (DT‐CMR) has a limited spatial resolution. The purpose of this study was to demonstrate high‐resolution DT‐CMR using a segmented variable density spiral sequence with correction for motion, off‐resonance, and T2*‐related blurring.MethodsA single‐shot stimulated echo acquisition mode (STEAM) echo‐planar‐imaging (EPI) DT‐CMR sequence at 2.8 × 2.8 × 8 mm3 and 1.8 × 1.8 × 8 mm3 was compared to a single‐shot spiral at 2.8 × 2.8 × 8 mm3 and an interleaved spiral sequence at 1.8 × 1.8 × 8 mm3 resolution in 10 healthy volunteers at peak systole and diastasis. Motion‐induced phase was corrected using the densely sampled central k‐space data of the spirals. STEAM field maps and T2* measures were obtained using a pair of stimulated echoes each with a double spiral readout, the first used to correct the motion‐induced phase of the second.ResultsThe high‐resolution spiral sequence produced similar DT‐CMR results and quality measures to the standard‐resolution sequence in both cardiac phases. Residual differences in fractional anisotropy and helix angle gradient between the resolutions could be attributed to spatial resolution and/or signal‐to‐noise ratio. Data quality increased after both motion‐induced phase correction and off‐resonance correction, and sharpness increased after T2* correction. The high‐resolution EPI sequence failed to provide sufficient data quality for DT‐CMR reconstruction.ConclusionIn this study, an in vivo DT‐CMR acquisition at 1.8 × 1.8 mm2 in‐plane resolution was demonstrated using a segmented spiral STEAM sequence. Motion‐induced phase and off‐resonance corrections are essential for high‐resolution spiral DT‐CMR. Segmented variable density spiral STEAM was found to be the optimal method for acquiring high‐resolution DT‐CMR data.
Passage Route and Upstream Migration Success: A Case Study of Snake River Salmonids Ascending Lower Granite Dam
Authors: Morrisett Christina N. , Skalski John R. , Kiefer Russell B. 
Published: November 2018

Abstract
Lower Granite Dam is the last dam that federally protected Snake River salmonids Oncorhynchus spp. must ascend during their spawning migration. The dam has an adult fish ladder equipped with a trapping system to facilitate fisheries research and hatchery broodstock collection. There are three possible passage routes through the adult ladder: trapped, shunted, and free passage. During the adult trapping season, all fish must swim through 0.305-m shunt pipes outfitted with PIT tag arrays that allow the selection of fish for trapping. Selected fish use the “trapped” route and are kept in a holding area for up to 20 h before being sampled and returned to the ladder. Unselected fish use the “shunted” route and immediately resume upstream migration after swimming through the pipes. When the trap is not in operation, the shunted route is inaccessible, and all fish use the “free passage” route to ascend the ladder without additional impediment. In 2016, a temporary change in ladder operations permitted free passage for a portion of the trapping season. Our study used this rare opportunity to evaluate how different passage routes affect in-ladder transit time and upstream homing success for five salmonid stocks: Sockeye Salmon Oncorhynchus nerka; steelhead O. mykiss; and spring-, summer-, and fall-run Chinook Salmon O. tshawytscha. In 2016, only Sockeye Salmon and spring- and summer-run Chinook Salmon were given access to free passage, and we found evidence that free passage increased subsequent detection at natal sites upstream. An expanded analysis of shunted versus trapped fish during the years 2012–2016 found no difference in rates of detection to home tributaries by route of passage for any of the five fish stocks examined.
The utility of routine surveillance screening with magnetic resonance imaging to detect tumor recurrence/progression in children with high‐grade central nervous system tumors: a systematic review
Authors: Stevens Simon P. , Main Caroline , Bailey Simon , Pizer Barry , English Martin , Phillips Bob , Peet Andrew , Avula Shivaram , Wilne Sophie , Wheatley Keith , Kearns Pamela R. , Wilson Jayne S. 
Published: November 2018

AbstractBackgroundSurveillance magnetic resonance imaging (MRI) is routinely used to detect recurrence in children with high‐grade central nervous system (CNS) tumors, although no consensus has been reached regarding its effectiveness and whether earlier detection is associated with improved patient outcomes. This review aimed to evaluate this practice and any associated benefits and harms.MethodsSystematic searches for relevant studies were undertaken in a number of databases, including MEDLINE and EMBASE, from 1985 to August 2018. Study selection and data extraction was undertaken independently by two reviewers. Due to heterogeneity between studies, no pooling of data was undertaken. Reporting followed Preferred Reporting Items for Systematic Reviews and Meta‐Analyses (PRISMA) guidelines.ResultsNo comparative studies were identified. Three retrospective observational studies involving 306 patients were reviewed. All had high risk of bias by virtue of study design. Two studies reported outcomes by symptomatic status—both recurrence rates and overall survival for asymptomatic patients were comparable with those for clinically symptomatic patients. No quality‐of‐life outcomes were reported.ConclusionThere is a paucity of evidence to guide clinical practice as to the effectiveness of MRI surveillance in pediatric patients with high‐grade CNS tumors. These studies do not clearly demonstrate benefit or harm for the practice. With more research needed, there is a role for researchers to build into future trials data collection on surveillance imaging to give more information for the assessment of imaging frequency and duration in asymptomatic patients. This is an important question not only to clinicians and patients and their families but also from a health service resource perspective.
Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2
Authors: Agresta Laura , Salloum Ralph , Hummel Trent R. , Ratner Nancy , Mangano Francesco T. , Fuller Christine , McMasters Richard L. , Pater Luke , Jones Blaise V. , Szabo Sara , Pressey Joseph G. 
Published: November 2018

AbstractMalignant peripheral nerve sheath tumor (MPNST) is a rare soft‐tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Here, we describe the clinicopathological and genomic features of a peripheral nerve sheath tumor (PNST), with a primary diagnosis of a neurofibroma, as it transforms into a high‐grade MPNST in the context of NF2.
Physician perspectives on compassionate use in pediatric oncology
Authors: Moerdler Scott , Zhang Lindy , Gerasimov Elena , Zhu Chong , Wolinsky Tamar , Roth Michael , Goodman Nancy , Weiser Daniel A. 
Published: November 2018

AbstractBackgroundTargeted cancer treatments are almost always first studied in adults, even when there is a biologically plausible potential for efficacy in children. Through compassionate use programs, children who are not eligible for a clinical trial and for whom there are no known effective therapies may obtain access to investigational agents, including drugs under development for adults. However, little is known about pediatric oncologists’ experiences with applying for and obtaining compassionate use agents.MethodsThis study surveyed 132 pediatric oncologists to assess awareness and utilization of compassionate use programs, to identify barriers to their use, and to evaluate available institutional support and resources.ResultsWe found that the process of applying for access to drugs in development is poorly understood, which presents a barrier to obtaining investigational drugs. Fifty‐seven percent of the pediatric oncologists applied for compassionate use. Providers from larger institutions or with more than 15 years of clinical experience were more likely to complete an application and obtain investigational agents for their patients.ConclusionIdentified perceived and actual barriers to compassionate use application submission suggest pediatric oncologists may benefit from educational resources and support to ensure children with cancer equal access to investigational agents and care.
The effect of preoperative chemotherapy on histological subtyping and staging of Wilms tumors: The United Kingdom Children's Cancer Study Group (UKCCSG) Wilms tumor trial 3 (UKW3) experience
Authors: Vujanić Gordan M. , D'Hooghe Ellen , Popov Sergey D. , Sebire Neil J. , Kelsey Anna 
Published: November 2018

AbstractBackgroundTwo principal approaches to Wilms tumor (WT) treatment are immediate surgery (IS) and preoperative chemotherapy (PCT), and both treatments use the risk‐adapted approach that includes histological subclassification of the tumor, combined with additional prognostic factors. In the UKW3 trial, these two approaches were compared. The aim of the present study was to compare histological features between the two groups, to assess the impact of PCT on distribution of histological subtyping and staging and to evaluate whether PCT resulted in more staging discrepancies between local and central pathology review (CPR).Materials and methodsThe cases were identified from the UKW3 trial database. The criteria for inclusion in the study were unilateral, nonmetastatic, nonanaplastic WTs, and submitted for CPR with an adequate number of slides. They were subclassified according to the NWTS and later the SIOP 9301 criteria.ResultsThere were 244 WTs in the IS and 182 in the PCT group subclassified as follows: blastemal 86 (35%) vs 9 (5%), epithelial 34 (14%) vs 12 (7%), stromal 12 (5%) vs 25 (14%), mixed 112 (46%) vs 45 (25%), respectively, plus 40% regressive and 10% completely necrotic WTs in the PCT group. The differences between the two groups for blastemal and mixed types were statistically significant. In the PCT group, there was a significant decrease in stage III tumors. The discrepancies in staging between local and CPR were not significant.ConclusionPCT significantly altered histological features and typing of WTs. It resulted in fewer stage III tumors, and staging discrepancies were equally represented in both groups.
Synthesis of π‐conjugated poly(arylene)s by polycondensation of 1,4‐bis(3‐methylpyridin‐2‐yl)benzene and aryl dibromides through regiospecific C‐H functionalization process
Authors: Yamashita Akira , Nishiyama Hiroki , Inagi Shinsuke , Tomita Ikuyoshi 
Published: November 2018

ABSTRACTOn the basis of the Ru‐catalyzed regiospecific direct double arylation of benzene rings possessing 3‐methylpyridin‐2‐yl substituents to produce 1‐aryl‐2‐(3‐methylpyridin‐2‐yl)benzene derivatives, the synthesis of poly(p‐phenylene) derivatives having 2,5‐bis(3‐methylpyridin‐2‐yl) substituents is described. The reaction of 1,4‐bis(3‐methylpyridin‐2‐yl)benzene with bromobenzene (2 equiv) was carried out in the presence of [RuCl2(η6‐C6H6)]2 (5 mol %) in 1‐methyl‐2‐pyrrolidone at 120°C for 24 h to produce 1,4‐bis(3‐methylpyridin‐2‐yl)‐2,5‐diphenylbenzene in 99% yield as a sole product. Neither 2,6‐diphenylated nor further phenylated products was produced under the examined conditions. This regiospecific double arylation process was then applied to the synthesis of π‐conjugated polymers by use of aryl dibromides such as 1,4‐dibromobenzene, 2,7‐dibromo‐9,9‐dihexylfluorene, and 2,5‐dibromothiophene. For example, a polymer was obtained in 73% yield by using 1,4‐dibromobenzene, whose Mn and Mw/Mn were estimated to be 3300 and 1.51, respectively. The bathochromic shift of the ultraviolet (UV)–visible absorption spectrum with respect to that of the model compound, 1,4‐bis(3‐methylpyridin‐2‐yl)‐2,5‐diphenylbenzene, indicated the extension of the π‐conjugation. The blue fluorescence was also observed for the polymer upon the UV irradiation. © 2018 Wiley Periodicals, Inc. J. Polym. Sci., Part A: Polym. Chem. 2018, 56, 2771–2777
The Competitive Dynamic Binding of Some Blood Proteins Adsorbed on Gold Nanoparticles
Authors: Zhang Xiaoning , Shi Haimei , Zhang Rutan , Zhang Junting , Xu Fuxing , Qiao Liang , Yu Shaoning 
Published: November 2018

AbstractNanoparticle (NP) surfaces are modified immediately by the adsorption of proteins when injected into human blood, leading to the formation of a protein corona. The protein‐coated NPs may be recognized by living cells. Furthermore, the adsorption of serum proteins is a continuous competitive dynamic process that is the key to exploring the bioapplication and biosafety of NPs. In this study, the competitive dynamic adsorption of some serum proteins on gold nanoparticles (AuNPs) is investigated by fluorescence emission, dynamic light scattering, and sodium dodecyl sulfate‐polyacrylamide gel electrophoresis. Serum proteins with different AuNPs binding affinities are used to address the competitive dynamic process of protein‐AuNP interactions in vitro. The results show that more abundant serum proteins, such as human serum albumin, adsorb on AuNPs first, and then the higher binding affinity and lower concentration serum proteins, such as fibrinogen (FIB), replace the abundant and lower binding affinity serum proteins. However, the lower binding affinity serum proteins, such as hemoglobin, do not replace the higher binding affinity proteins from the protein‐AuNP conjugates. During the dynamic exchange process, the larger the binding affinities difference between two proteins, the faster the exchange rate. This dynamic exchange process usually takes longer in inner protein‐AuNP conjugates (hard corona) than the external surface of protein‐AuNP conjugates (soft corona).
On efficient construction and evaluation of runs rules–based control chart for known and unknown parameters under different distributions
Authors: Mehmood Rashid , Lee Muhammed Hisyam , Hussain Shahzad , Riaz Muhammad 
Published: November 2018

AbstractIn this study, we have considered two design structures of
control chart by covering the situations of known and unknown parameters, variety of probability distributions, and runs rules. The design structures are dependent on constants which generally considered hard to compute analytically. For construction of constants and also for evaluating performance of the design structures through performance measures, we have illustrated Monte Carlo simulation procedure/algorithm for researcher and practitioners. Furthermore, based on the Monte Carlo simulation procedures, we have established a program in R language to compute values of different constants and performance measures. Results illustrated that design structures for known and unknown parameters under variety of runs rules and probability distributions have outstanding performance in contrast to existing structures. Moreover, design structure for unknown parameters behaves alike the design structure for known parameters. This indicates that design structure for unknown parameters has the ability to resolve the issue of runs rules which generally occur when parameters are estimated. Besides, two real‐life examples have been included in which physicochemical characteristic of groundwater and plasticizer characteristic of petrochemical process are monitored through design structures.