bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder
Authors: Tammimies Kristiina , Li Danyang , Rabkina Ielyzaveta , Stamouli Sofia , Becker Martin , Nicolaou Veronika , Berggren Steve , Coco Christina , Falkmer Torbjörn , Jonsson Ulf , Choque-Olsson Nora , Bölte Sven 
Published: July 2019

AbstractChallenges in social communication and interaction are core features of autism spectrum disorder (ASD) for which social skills group training (SSGT) is a commonly used intervention. SSGT has shown modest and heterogeneous effects. One of the major genetic risk factors in ASD is rare copy number variation (CNV). However, limited information exists whether CNV profiles could be used to aid intervention decisions. Here, we analyzed the rare genic CNV carrier status for 207 children, of which 105 received SSGT and 102 standard care as part of a randomized clinical trial for SSGT. We found that being a carrier of rare genic CNV did not have an impact on the SSGT outcome measured by the parent-report Social Responsiveness Scale (SRS). However, when stratifying by pathogenicity and size of the CNVs, we identified that carriers of clinically significant and large genic CNVs (>500 kb) showed inferior SRS outcomes at post-intervention (P = 0.047 and P = 0.036, respectively) and follow-up (P = 0.008 and P = 0.072, respectively) when adjusting for standard care effects. Our study provides preliminary evidence that carriers of clinically significant and large genic CNVs might not benefit as much from SSGT as non-carriers. Our results indicate that genetic information might help guide the modifications of interventions in ASD.
Evaluation of an Electro-Pneumatic Device for Artificial Capillary Pulse Generation used in a Prospective Study in Animals for Surgical Neck Wound Healing
Authors: Foltyn J. , Proto A. , Oczka D. , Halfar R. , Klinkovsky T. , Skoloudik L. , Cerny M. , Chrobok V. , Ryska A. , Radochova V. , Litschmannova M. , Penhaker M. , Mejzlik J. 
Published: July 2019

AbstractThe paper examines the development and testing of an electro-pneumatic device for wound healing therapy after surgery in the neck area. The device generates air pressure values in a miniaturized cuff using electronic circuitry to drive an electro-valve and air compressor. The device works in two distinct modes: continuous pressure mode and pulsating pressure mode. The pressure value setting can vary from 3 to 11 mmHg, and the pulsating pressure mode’s operating frequency range is approximately 0.1 to 0.3 Hz. Laboratory measurements were conducted to evaluate the device’s correct functioning in both continuous and pulsating pressure modes. A four-day prospective study with animals (n = 10) was also conducted to evaluate neck wound healing therapy using the electro-pneumatic device. Out of the twelve histological parameters analysed to reveal the differences between the experimental and control wounds, only one demonstrated a significant difference. Out of the ten animals treated with the device, three showed a significant difference in terms of benefit after therapy. We can therefore conclude that the device potentially improves the wound healing process in the neck area if the pre-set air pressure value does not exceed 8 mmHg.
Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing
Authors: Lorca Víctor , Rueda Daniel , Martín-Morales Lorena , Fernández-Aceñero María Jesús , Grolleman Judith , Poves Carmen , Llovet Patricia , Tapial Sandra , García-Barberán Vanesa , Sanz Julián , Pérez-Segura Pedro , de Voer Richarda M. , Díaz-Rubio Eduardo , de la Hoya Miguel , Caldés Trinidad , Garre Pilar 
Published: July 2019

AbstractAttenuated adenomatous polyposis (AAP) is a heterogeneous syndrome in terms of clinical manifestations, heritability and etiology of the disease. Genetic heterogeneity and low penetrance alleles are probably the best explanation for this variability. Certainly, it is known that APC and MUTYH are high penetrance predisposition genes for adenomatous polyposis, but they only account for 5–10% of AAP. Other new predisposition genes, such as POLE, POLD1, NTHL1, AXIN2 or MSH3, have been recently described and have been associated with AAP, but their relative contribution is still not well defined. In order to evaluate the genetic predisposition to AAP in a hospital based population, germline DNAs from 158 AAP subjects were screened for genetic variants in the coding regions and intron-exon boundaries of seven associated genes through a next-generation sequencing (NGS) custom gene panel. Splicing, segregation studies, somatic mutational screening and RNA quantitative expression assays were conducted for selected variants. In four of the probands the adenoma susceptibility could be explained by actionable mutations in APC or MUTYH, and one other patient was a double carrier of two truncating variants in both POLE and NTHL1. Furthermore, 16 additional patients harbored uncertain significance variants in the remaining tested genes. This report gives information about the contribution of the newly described adenomatous polyposis predisposition genes in a Spanish attenuated polyposis cohort. Our results highly support the convenience of NGS multigene panels for attenuated polyposis genetic screening and reveals POLE frameshift variants as a plausible susceptibility mechanism for AAP.
Forest understories controlled the soil organic carbon stock during the fallow period in African tropical forest: a 13C analysis
Authors: Sugihara Soh , Shibata Makoto , Mvondo Ze Antoine D. , Tanaka Haruo , Kosaki Takashi , Funakawa Shinya 
Published: July 2019

AbstractSoil organic carbon (SOC) dynamics after slash-burn agriculture are poorly understood in African tropical forest, though recent studies have revealed C4 grass invasion as a forest understory influences SOC dynamics after deforestation. This study aimed to quantify the relative SOC contribution of C4 and C3 plants separately through the sequential fallow periods of forest (cropland, or 4–7, 20–30, or >50 years of fallow forest) in the tropical forest of eastern Cameroon. We evaluated the SOC stock and natural 13C abundance for each layer. The SOC stock was largest in 4–7 years fallow forest (136.6 ± 8.8 Mg C ha−1; 100 cm depth, and C4:C3 = 58:42), and decreased with increasing fallow period. SOC from C4 plants was larger in the 4–7 and 20–30 years fallow forests (57.2–60.4 ± 5.8 Mg C ha−1; 100 cm depth), while it clearly decreased in >50 years fallow forest (35.0 ± 4.1 Mg C ha−1; 100 cm depth), resulting in the smallest SOC in this mature forest (106.4 ± 12.9 Mg C ha−1; 100 cm depth). These findings indicate that C4 grass understories contributed to the SOC restoration during early fallow succession in the tropical forest of eastern Cameroon.
Expression of RRBP1 in epithelial ovarian cancer and its clinical significance
Authors: Ma Jing , Ren Sujing , Ding Jing , Liu Shuang , Zhu Jiaqi , Ma Rong , Meng Fanling 
Published: July 2019

Abstract
Hematopoietic pre-B cell leukemia transcription factor (PBX)-interacting protein (RRBP1) has been shown to participate in various aspects of malignancies. The clinical significance of RRBP1 and its involvement in the epithelial ovarian cancer have yet to be studied. The aim of the present study was to investigate the expression of RRBP1 in epithelial ovarian cancer (EOC) and its relationship with clinical characteristics and prognosis. We evaluated the mRNA and protein expression levels of RRBP1 by quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting (n=45). Immunohistochemistry and data analysis were used to examine the relationship between the expression level of RRBP1 and the clinicopathological features and prognosis of epithelial ovarian cancer. RRBP1 was highly expressed in EOC (P&lt;0.001). The specimens were obtained from 108 patients undergoing surgery to treat epithelial ovarian cancer. RRBP1 expression was obviously related to Federation International of Gynecologie and Obstetrigue (FIGO) stage (P&lt;0.001), histological grade (P=0.021), histological type (P=0.004), and lymph node metastasis (P=0.012) but was not related to patient age (P=0.385) or preoperative carbohydrate antigen125 (CA125) level (P=0.238). Univariate analysis showed that the prognosis of the epithelial ovarian cancer patients was related to the age of the patients, the FIGO stage, and the expression level of RRBP1 (P&lt;0.05). Patients with higher RRBP1 expression had significantly worse overall survival (OS) (P=0.003) and disease-free survival (DFS) (P&lt;0.001). Multivariate survival analysis proved that RRBP1 was an independent predictor of OS (P=0.003) and DFS (P&lt;0.001). RRBP1 plays an important role in predicting the prognosis of EOC. These results show that RRBP1 is a potential target for the treatment of epithelial ovarian cancer.
Soluble ST2 promotes oxidative stress and inflammation in cardiac fibroblasts: an in vitro and in vivo study in aortic stenosis
Authors: Matilla Lara , Ibarrola Jaime , Arrieta Vanessa , Garcia-Peña Amaia , Martinez-Martinez Ernesto , Sádaba Rafael , Alvarez Virginia , Navarro Adela , Fernández-Celis Amaya , Gainza Alicia , Santamaría Enrique , Fernández-Irigoyen Joaquín , Bayes-Genis Antoni , Rossignol Patrick , López-Andrés Natalia 
Published: July 2019

Abstract
Background: Soluble ST2 (interleukin 1 receptor-like 1) (sST2) is involved in inflammatory diseases and increased in heart failure (HF). We herein investigated sST2 effects on oxidative stress and inflammation in human cardiac fibroblasts and its pathological role in human aortic stenosis (AS).
Methods and results: Using proteomics and immunodetection approaches, we have identified that sST2 down-regulated mitofusin-1 (MFN-1), a protein involved in mitochondrial fusion, in human cardiac fibroblasts. In parallel, sST2 increased nitrotyrosine, protein oxidation and peroxide production. Moreover, sST2 enhanced the secretion of pro-inflammatory cytokines interleukin (IL)-6, IL-1β and monocyte chemoattractant protein-1 (CCL-2). Pharmacological inhibition of transcriptional factor nuclear factor κB (NFκB) restored MFN-1 levels and improved oxidative status and inflammation in cardiac fibroblasts. Mito-Tempo, a mitochondria-specific superoxide scavenger, as well as Resveratrol, a general antioxidant, attenuated oxidative stress and inflammation induced by sST2. In myocardial biopsies from 26 AS patients, sST2 up-regulation paralleled a decrease in MFN-1. Cardiac sST2 inversely correlated with MFN-1 levels and positively associated with IL-6 and CCL-2 in myocardial biopsies from AS patients.
Conclusions: sST2 affected mitochondrial fusion in human cardiac fibroblasts, increasing oxidative stress production and inflammatory markers secretion. The blockade of NFκB or mitochondrial reactive oxygen species restored MFN-1 expression, improving oxidative stress status and reducing inflammatory markers secretion. In human AS, cardiac sST2 levels associated with oxidative stress and inflammation. The present study reveals a new pathogenic pathway by which sST2 promotes oxidative stress and inflammation contributing to cardiac damage.
Network modeling of single-cell omics data: challenges, opportunities, and progresses
Authors: Blencowe Montgomery , Arneson Douglas , Ding Jessica , Chen Yen-Wei , Saleem Zara , Yang Xia 
Published: July 2019

Abstract
Single-cell multi-omics technologies are rapidly evolving, prompting both methodological advances and biological discoveries at an unprecedented speed. Gene regulatory network modeling has been used as a powerful approach to elucidate the complex molecular interactions underlying biological processes and systems, yet its application in single-cell omics data modeling has been met with unique challenges and opportunities. In this review, we discuss these challenges and opportunities, and offer an overview of the recent development of network modeling approaches designed to capture dynamic networks, within-cell networks, and cell–cell interaction or communication networks. Finally, we outline the remaining gaps in single-cell gene network modeling and the outlooks of the field moving forward.
Technical Obstacles for Low-Volume Surgeons in Primary Anterior Cruciate Ligament Reconstruction
Authors: Harato Kengo , Kobayashi Shu , Toyoda Takashi , Hasegawa Takayuki , Tsukimura Yasunori , Niki Yasuo 
Published: July 2019

AbstractA longer surgical time will lead to postoperative complications in orthopaedic surgery. According to previous reports, surgeon volume affects a surgical time in anterior cruciate ligament (ACL) reconstruction. However, little attention has been paid to difference of a surgical time between high- and low-volume surgeons in ACL reconstruction. The purpose of the present study was to investigate the surgical time for both high- and low-volume surgeons and to clarify technical obstacles as well as the important technique to reduce the surgical time in ACL reconstruction. A total of 103 knees in 103 patients with ACL tear were enrolled. All the procedures were performed by 13 different surgeons. The surgeons were divided into two surgeon groups (high- and low-volume groups) based on the number of annual cases. The operative technique was divided into the same five steps to perform comparisons of step-by-step surgical time between the surgeon groups of different volumes. The statistical comparison was done between high- and low-volume groups in terms of surgical time in each step. Total operation times were 87.8 ± 17.6 and 129.9 ± 42.9 minutes in high- and low-volume group, respectively. Low-volume surgeons took much time in tendon harvesting and bone tunnel creation using arthroscopy. Low-volume surgeons took more time for primary ACL reconstruction, especially in tendon harvesting, compared with high-volume surgeons. Tendon harvesting was extremely important, as well as bone tunnel creation, for low-volume surgeons to reduce surgical time in primary ACL reconstruction.
Preoperative Estimated Width of the Patellar Tendon for Anterior Cruciate Ligament Reconstruction
Authors: Gupta Sunny , Bartolozzi Arthur R. , Miller Lawrence , Morgan Craig , Anyangwe Victor , Cavinatto Leonardo 
Published: July 2019

AbstractThis study aims to compare the actual patellar tendon width with the skin and magnetic resonance imaging (MRI) measurements and to describe a more accurate method to predict the actual patellar tendon width before anterior cruciate ligament reconstruction (ACLR).Thirty-nine patients undergoing primary ACLR were identified. Patients with patellar tendon width of less than 30 mm by skin or MRI measurements were excluded from the study. The actual patellar tendon width was measured as an intraoperative reading taken after surgical exposure. Mean difference between the skin and actual measurement and mean difference between the MRI and actual measurement was calculated. Paired t-test was run to determine any significant differences. A difference was also calculated between the actual measurement and the average sum of skin and MRI measurements for each patient. Skin thickness was compared to Δ (Δ = preincision skin measurement of patellar tendon width minus postincision actual measurement) by Spearman's correlation test. Mean difference between skin and actual measurements was 2.5 mm, with p = 0.001. Mean difference between MRI and actual measurement was −2.7 mm with p = 0.001. However, the mean difference between the actual and the average sum of skin and MRI measurements was 0.13 mm with p = 0.76. The Pearson's correlation coefficient, r
s, between average sum of skin and MRI measurements and the actual measurement was 0.6 with p = 0.001. There was no correlation found between the skin thickness and Δ∙. This study indicates that there is a significant difference between the actual patellar tendon width and the measurement of the tendon taken using a ruler on the skin or using MRI image software. However, the average sum of skin and MRI measurements, which is not significantly different from the actual width, can accurately predict the actual patellar tendon width before ACLR. The study reflects level IV evidence.
Characterization of saponins and phenolic compounds: antioxidant activity and inhibitory effects on α-glucosidase in different varieties of colored quinoa (Chenopodium quinoa Willd)
Authors: Han Yameng , Chi Jianwei , Zhang Mingwei , Zhang Ruifen , Fan Sanhong , Huang Fei , Xue Kaming , Liu Lei 
Published: July 2019

ABSTRACT
This study investigated the contents of saponins and phenolic compounds in relation to their antioxidant activity and α-glucosidase inhibition activity of 7 colored quinoa varieties. The total saponin content was significantly different among 7 varieties and ranged from 7.51 to 12.12 mg OAE/g DW. Darker quinoa had a higher content of phenolic compounds, as well as higher flavonoids and antioxidant activity than that of light varieties. Nine individual phenolic compounds were detected in free and bound form, with gallic acid and ferulic acid representing the major compounds. The free and bound phenolic compounds (gallic acid and ferulic acid in particular) exhibited high linear correlation with their corresponding antioxidant values. In addition, the free phenolic extracts from colored quinoa exhibited higher inhibitory activity against α-glucosidase than the bound phenolic extracts. These findings imply that colored quinoa with abundant bioactive phytochemicals could be an important natural source for preparing functional food.
Super-resolution x-ray phase-contrast and dark-field imaging with a single 2D grating and electromagnetic source stepping
Authors: Rix Kristian R , Dreier Till , Shen Tao , Bech Martin 
Published: July 2019

Abstract
Here we report a method for increased resolution of single exposure three modality x-ray images using super-resolution. The three x-ray image modalities are absorption-, differential phase-contrast-, and dark-field-images. To create super-resolution, a non-mechanically movable micro-focus x-ray source is used. A series of almost identical x-ray projection images is obtained while the point source is translated in a two-dimensional grid pattern. The three image modalities are extracted from fourier space using spatial harmonic analysis, also known as the single-shot method. Using super-resolution on the low-resolution series of the three modalities separately results in high-resolution images for the modalities. This approach allows to compensate for the inherent loss in resolution caused by the single-shot method without increasing the need for stability or algorithms accounting for possible motion.
Quantizing neutrino billiards: an expanded boundary integral method
Authors: Yu Pei , Dietz B , Huang L 
Published: July 2019

AbstractWith the pioneering fabrication of graphene the field of relativistic quantum chaos emerged. We will focus on the spectral properties of massless spin-1/2 particles confined in a bounded two-dimensional region, named neutrino billiards by Berry and Mondragon in 1987. A commonly used method for the determination of the eigenvalues is based on a boundary integral equation originating from Green’s theorem. Yet, in the quantization one might face problems similar to those occurring for non-relativistic quantum billiards. Especially in cases where the eigenvalue spectrum contains near degeneracies the identification of complete sequences of eigenvalues might be extremely elaborate, if not unfeasible. We propose an expanded boundary integral method, which yields complete eigenvalue sequences with a considerably lower numerical effort than the standard one. Actually, it corresponds to an extension of the method introduced in Vebleet al(2007New J. Phys.915) to relativistic quantum billiards. To demonstrate its validity and its superior efficiency compared to the standard method, we apply both methods to a circular billiard of which the eigenvalues are known analytically and exhibit near degeneracies. Finally, we employ it for the quantization of a neutrino billiard with a hole, of which the spectrum contains many close lying levels and exhibits unusual fluctuation properties.
Application of generalized additive models with P-Spline basis for infant mortality rate data
Authors: Ahya D , Miftahuddin  
Published: July 2019

Abstract
Infant Mortality Rate (IMR) is an indicator of health that reflects the state of the health status of a population. The infant mortality rate in Aceh province period of 2014 has the highest position compared to the previous 4 years that amounted to 15/1000 live births. Generalized Additive Models (GAM) is a method that can handle the condition of the data which response variable does not have to be normally distributed and related with the predictor variable also does not have to be linear. Fitting GAM models with P-spline base can produce a smoother curve and avoid the occurrence of misfitting models. Application of GAM P-spline bases in this research is used data number of IMR in Aceh province period of 2012-2015. The purpose of this research is to get the best fitting model of IMR with GAM models P-spline bases. The results show that the best model of GAM P-spline which can be explain IMR in Aceh Province period of 2012-2015 with knots 7 and GCV is 0,0723.
The use of bentonite of Bener Meriah Aceh to improve the mechanical properties of Polypropylene-Montmorillonite Nanocomposite
Authors: Julinawati J , Gea S , Eddiyanto E , Wirjosentono B , Ichwana I 
Published: July 2019

AbstractThe research on application of bentonite Bener Meriah of Aceh to improve the mechanical properties of polypropylene-montmorillonite nanocomposite has been conducted. Bentonite was isolated into the nano-sized montmorillonite and was used as a filler of polypropylene-montmorillonite nanocomposites with the addition of PP-g-MA as a compatibilizer and octadecylamine as a modifier of MMT. The results showed that bentonite of Bener Meriah Aceh contained montmorillonite with 70.6% content. Based on the result of mechanical properties test, it was ddiscovered that montmorillonite isolated from Bentonite of Bener Meriah could improve the mechanical properties of PP-MMT nanocomposite in composition ratio of PP/PP-g-MA/MMT is 85/10/5.
Comparison between maceration and microwave extraction techniques of strawberry fruit (fragaria sp) and antioxidant activity test
Authors: Fitri N , Halimatussa’diah  , Fitriastuti D 
Published: July 2019

Abstract
Extraction of strawberry fruit (Fragaria sp) by maceration and microwave and antioxidant activity test was studied. The objectives of this research are (1) to compare the maceration and microwave extraction techniques, and (2) to determine the antioxidant activity of strawberry fruit extract. The research steps consist of sample preparation, maceration and microwave extraction with 96% ethanol solution, phytochemical screening test and antioxidant activity test with DPPH method. The yield of extraction of 5.77%, 2.12%, 1.55% and 2.58% is achieved at 24 hours maceration and 3, 5 and 7 min microwaves, respectively. The phytochemical screening result shows that the strawberry fruit ethanol extract contains tannins, flavanoids, alkaloids, and saponins compounds. The identification result of flavanoids compounds by UV-Vis spectophotometer reveals that the strawberry fruit ethanol extract is interpreted to contain isoflavones compounds. The FTIR spectra displays the existence of specific function groups of flavanoids compound such as OH, C-O alcohol, C=C aromatic, C-H aromatic, C-H alifatic, C=O and C-O ether. Antioxidant activity test by DPPH method reveals that strawberry fruit ethanol extract at 24 h maceration and 3, 5 and 7 min microwave containing IC50 of 50.61 ppm and 67.97, 118.45 and 61.42 ppm, respectively. Moreover, LC-MS-MS analysis indicates the presence of isoflavones compounds peak i.e. formononetin and daidzin.