bluuebunny/crossref_metadata_2025 huggingface dataset:
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach
Authors: Burillo-Sanz Sergio , Montes-Cano Marco-Antonio , García-Lozano José-Raúl , Ortiz-Fernández Lourdes , Ortego-Centeno Norberto , García-Hernández Francisco-José , Espinosa Gerard , Graña-Gil Genaro , Sánchez-Bursón Juan , Rosa Juliá María , Solans Roser , Blanco Ricardo , Barnosi-Marín Ana-Celia , Gómez De la Torre Ricardo , Fanlo Patricia , Rodríguez-Carballeira Mónica , Rodríguez-Rodríguez Luis , Camps Teresa , Castañeda Santos , Alegre-Sancho Juan-Jose , Martín Javier , González-Escribano María Francisca
Published: August 2017

Behçet’s disease (BD) is an immune-mediated systemic disorder with a well-established association with HLA class I and other genes. BD has clinical overlap with many autoinflammatory diseases (AIDs). The aim of this study was to investigate the role of rare variants in seven genes involved in AIDs: CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A using a next generation sequencing (NGS) approach in 355 BD patients. To check global association of each gene, 4 tests: SKAT, CollapseBt, C(α) and weighted KBAC were used. Databases: 1000 Genomes Project Phase 3, Infevers, HGMD and ClinVar and algorithms: PolyPhen2 and SIFT were consulted to collect information of the 62 variants found. All the genes resulted associated using SKAT but only 3 (MVK, NOD2 and PSTPIP1) with C(α) and weighted KBAC. When all the genes are considered, 40 variants were associated to AIDs in clinical databases and 25 were predicted as pathogenic at least by one of the algorithms. Including only MVK, NOD2 and PSTPIP1, the associated to AIDs variants found in BD were 20 and the predicted as pathogenic, 12. The maxima contribution corresponds to NOD2. This study supports influence of rare variants in genes involved in AIDs in the pathogenesis of BD.
Genome-wide Association Studies for Female Fertility Traits in Chinese and Nordic Holsteins
Authors: Liu Aoxing , Wang Yachun , Sahana Goutam , Zhang Qin , Liu Lin , Lund Mogens Sandø , Su Guosheng
Published: August 2017

Reduced female fertility could cause considerable economic loss and has become a worldwide problem in the modern dairy industry. The objective of this study was to detect quantitative trait loci (QTL) for female fertility traits in Chinese and Nordic Holsteins using various strategies. First, single-trait association analyses were performed for female fertility traits in Chinese and Nordic Holsteins. Second, the SNPs with P-value < 0.005 discovered in Chinese Holsteins were validated in Nordic Holsteins. Third, the summary statistics from single-trait association analyses were combined into meta-analyses to: (1) identify common QTL for multiple fertility traits within each Holstein population; (2) detect SNPs which were associated with a female fertility trait across two Holstein populations. A large numbers of QTL were discovered or confirmed for female fertility traits. The QTL segregating at 31.4~34.1 Mb on BTA13, 48.3~51.9 Mb on BTA23 and 34.0~37.6 Mb on BTA28 shared between Chinese and Nordic Holsteins were further ascertained using a validation approach and meta-analyses. Furthermore, multiple novel variants identified in Chinese Holsteins were validated with Nordic data as well as meta-analyses. The genes IL6R, SLC39A12, CACNB2, ZEB1, ZMIZ1 and FAM213A were concluded to be strong candidate genes for female fertility in Holsteins.
Electron transfer in ZnO–Fe2O3aqueous slurry systems and its effects on visible light photocatalytic activity
Authors: Lachheb H. , Ajala F. , Hamrouni A. , Houas A. , Parrino F. , Palmisano L.
Published: August 2017

The strong interactions between ZnO and Fe2O3modify the nanocomposite's electronic structure producing efficient charge separation and superior photoactivity.
Bio-mimicking TiO2 architectures for enhanced photocatalytic activity under UV and visible light
Authors: Hashemizadeh Iman , Tsang Daniel C. W. , Ng Yun Hau , Wu Zhijie , Golovko Vladimir , Yip Alex C. K.
Published: August 2017

A multi-step chemical replication method using natural green leaves as templates can produce a porous, visible-light active TiO2-based photocatalyst.
Infrared spectroscopy on the role of surfactants during methane hydrate formation
Authors: Rauh Florian , Pfeiffer Jens , Mizaikoff Boris
Published: August 2017

Studies on the role of surfactants at a molecular level during gas hydrate formation via in situ fiberoptic infrared spectroscopy.
Bis-isoquinolinium and bis-pyridinium acetylcholinesterase inhibitors: in vitro screening of probes for novel selective insecticides
Authors: Hrabcova Veronika , Korabecny Jan , Manyova Brigita , Matouskova Lenka , Kucera Tomas , Dolezal Rafael , Musilek Kamil , Gorecki Lukas , Nepovimova Eugenie , Kuca Kamil , Jun Daniel
Published: August 2017

Library screening of pyridinium-based compounds, acting as acetylcholinesterase inhibitors, for their potential insecticidal efficacy.
Highly promoted removal of Hg(ii) with magnetic CoFe2O4@SiO2 core–shell nanoparticles modified by thiol groups
Authors: Zhu He , Shen Yi , Wang Qin , Chen Kuan , Wang Xi , Zhang Ganwei , Yang Jingjing , Guo Yongfu , Bai Renbi
Published: August 2017

A simple and environmentally friendly material, CoFe2O4@SiO2–SH, was prepared successfully with CoFe2O4 nanoparticles coated by SiO2 which was further functionalized with thiol groups (–SH).
2,6-Di(thiophenyl)-1,5-dihydrodipyrrolopyrazine (DT-DPP) structural isomers as donor–acceptor–donor molecules and their optoelectronic investigation
Authors: Meti Puttavva , Gong Young-Dae
Published: August 2017

We report the synthesis and characterization of two new D–A–D molecules via Pd catalyzed C–C and C–N coupling reactions. This illustrates the potential of DT-DPP for promising optoelectronic applications.
A new 3D crosslinked polymer strategy for highly efficient oxygen reduction Fe–Nx/C catalysts
Authors: Shao Zonggui , Tong Lei , Qian Yasheng , Dun Rongmin , Li Wenmu
Published: August 2017

The development of non-precious metal (NPM) catalysts with superior performance to replace Pt/C is critical for the wide application of proton-exchange membrane fuel cells.
Structural, magnetic and electrical properties in Al-substitued NiZnCo ferrite prepared via the sol–gel auto-combustion method for LTCC technology
Authors: Li Le-Zhong , Zhong Xiao-Xi , Wang Rui , Tu Xiao-Qiang , He Lei , Guo Rong-Di , Xu Zhi-Yong
Published: August 2017

Al-substituted NiZnCo ferrite, Ni0.4Zn0.5Co0.1AlxFe2−xO4 (0 ≤ x ≤ 0.20), were synthesized by the sol–gel auto-combustion method.
Novel sulfonate-containing halogen-free flame-retardants: effect of ternary and quaternary sulfonates centered on adamantane on the properties of polycarbonate composites
Authors: Zhu Dong Yu , Guo Jian Wei , Xian Jia Xing , Fu Shu Qin
Published: August 2017

Two efficient sulfonate flame retardants based on adamantane endow PC composites with excellent flame retardancy and mechanical property.
Bacteria-white-rot fungi joint remediation of petroleum-contaminated soil based on sustained-release of laccase
Authors: Liu Boqun , Liu Jinpeng , Ju Meiting , Li Xiaojing , Wang Ping
Published: August 2017

This research adopted a new way for white-rot fungi to play a full part in the degradation ability of both bacteria and fungi.
A novel semi-aromatic polyamide TFC reverse osmosis membrane fabricated from a dendritic molecule of trimesoylamidoamine through a two-step amine-immersion mode
Authors: Wu Hao , Chen Xiao-Lin , Huang Xiang , Ruan Hui-Min , Ji Yan-Li , Liu Li-Fen , Gao Cong-Jie
Published: August 2017

In this work, a novel semi-aromatic polyamide RO membrane was fabricated from a new dendritic molecule of trimesoylamidoamine (TMAAM) combined 1,3-diamino-2-propanol (DAP) to react with trimesoyl chloride (TMC) via a new two-step amine immersion method.
Quantification of ionic organo(fluoro)phosphates in decomposed lithium battery electrolytes
Authors: Menzel Jennifer , Schultz Hannah , Kraft Vadim , Badillo Juan Pablo , Winter Martin , Nowak Sascha
Published: August 2017

Simultaneous identification and quantification of organofluorophosphates via the developed setup.
Asymmetric synthesis of chromene skeletons via organocatalytic domino reactions of in situ generated ortho-quinone methide with malononitrile and β-functionalized ketone
Authors: Zhang Lili , Zhou Xiao , Li Pengfei , Liu Zhantao , Liu Yang , Sun Yong , Li Wenjun
Published: August 2017

Enantioselective organocatalytic domino reactions of in situ generated ortho-quinone methides with malononitrile and β-functionalized ketones have been developed. This strategy could generate various chiral chromenes in high yields and stereoselectivities.
Performance of underprepared students in traditional versus animation-based flipped-classroom settings
Authors: Gregorius R. Ma.
Published: August 2017

Student performance in a flipped classroom with an animation-based content knowledge development system for the bottom third of the incoming first year college students was compared to that in a traditional lecture-based teaching method. 52% of these students withdrew from the traditionally taught General Chemistry course, compared to 22% in a similar course taught in a flipped classroom teaching method. Of the students who persisted in the course and obtained a grade, there was an increase in A's and B's as well as an increase in D's and F's for students taught in a flipped classroom teaching method when compared to those in the traditional setting. When the course that was initially taught in a flipped classroom method reverted to a traditional teaching method, students in that course generally performed worse than students who were in a traditionally taught course all throughout.
Nonergodicity parameters of confined hard-sphere glasses
Authors: Mandal Suvendu , Lang Simon , Boţan Vitalie , Franosch Thomas
Published: August 2017

Within a recently developed mode-coupling theory for fluids confined to a slit we elaborate numerical results for the long-time limits of suitably generalized intermediate scattering functions.
Bio-inspired liquid transport via elastocapillary interaction of a thin membrane with a liquid meniscus
Authors: Samy R. A. , George D. , Sen A. K.
Published: August 2017

We report bio-inspired (from a hummingbird’s tongue) liquid transport via elastocapillary interaction of a thin membrane with a liquid meniscus.
Heterologous perylene diimide arrays: potential non-fullerene acceptors in organic solar cells
Authors: Wang Helin , Chen Lingcheng , Xiao Yi
Published: August 2017

A new family of perylene diimide (PDI) arrays, heterologous ones, were efficiently developed for non-fullerene organic solar cells with a superior PCE of 4.55%.
Quantity Matters: Children With Dyslexia Are Impaired in a Small, but Not Large, Number of Exposures During Implicit Repeated Sequence Learning
Authors: He Xinjie , Tong Shelley Xiuli
Published: August 2017

Purpose

The present study investigated the onset of statistical learning and examined whether the number of exposures to a repeated sequence influences the learning performance of children with dyslexia on a serial reaction time task.

Method

Three groups of children (29 with dyslexia, 29 age-matched controls, and 30 reading level–matched controls) were administered a serial reaction time task, and their statistical learning performances after a small and a large number of exposures (40 vs. 180 exposures) were recorded and compared.

Results

Children with dyslexia showed impaired statistical learning after a small number of exposures to a sequence, but intact statistical learning after a large number of exposures. In contrast, the age-matched and reading level–matched control groups showed intact statistical learning after both small and large numbers of exposures. Children with dyslexia also exhibited a slower learning rate than either control group.

Conclusion

These results suggest that the amount of exposure to statistical patterns influences statistical learning performance in children with dyslexia.
Prosthodontic Management of Velopharyngeal Dysfunction in Speakers With Neurological Conditions
Authors: Beukelman David , Hakel Mark , Fager Susan Koch , Marshall Julie , Pfeifer Chase
Published: August 2017

The purpose of this article is to describe the use of palatal lift and nasal obturator interventions for children and adults with velopharyngeal dysfunction due to neurological conditions. These intervention procedures are illustrated with brief summaries of an adult and a child with velopharyngeal dysfunction due to traumatic brain injury. The use of 3D printing to produce nasal obturators is introduced.
A Review of Psychosocial Risks and Management for Children with Cleft Lip and/or Palate
Authors: Crerand Canice E. , M. Kapa Hillary , Litteral Jennifer
Published: August 2017

This article reviews the psychosocial risks associated with congenital craniofacial conditions with a specific focus on the most common condition, cleft lip and/or palate (CL/P). Risks will be detailed from infancy through adolescence for both children and their families. Families of children with CL/P are at risk for adjustment problems, which may in turn impact child social and behavioral functioning. Children with CL/P are vulnerable to internalizing and externalizing problems, social stigmatization, as well as learning problems. Children and their families may also experience distress related to surgery and other aspects of their cleft treatment. Strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, and utilization of regular screening and referral to empirically supported psychological interventions will be described.
We've Got Some Growing Up to Do: An Evidence-Based Service Delivery Model for the Transition of Care for the Young Adult with Cleft Lip and Palate
Authors: Vallino Linda D. , Louw Brenda
Published: August 2017

As a child approaches adulthood, many transitions take place; physically and psychosocially. There are new roles and responsibilities. For the young adult with cleft lip and palate (CLP), one of the most significant transitions is moving from the pediatric interdisciplinary team to the adult-centered health care system. There is a shift in focus from the cleft itself and clinician-reported outcomes to patient self-report about the perceived impact of the cleft on quality of life. Transition also befalls the parents and team providers who, through the course of some 18 years, were active participants in the young person's care. Their roles, too, have changed. The International Classification of Functioning, Disability, and Health (ICF; World Health Organization, 2001, 2004) is a conceptual framework for considering the totality of the cleft by addressing the interaction between the person and their personal and social environment. This model is suitably applicable to the transition of care of the young adult with CLP. In this paper, we propose an evidence-based person-centered delivery model of care using the concepts of the ICF to facilitate the transition of care for this population. A case example is presented highlighting the use of these concepts for the speech-language pathologist.
Investigation on de-trapping mechanisms related to non-monotonic kink pattern in GaN HEMT devices
Authors: Sharma Chandan , Laishram Robert , Amit  , Rawal Dipendra Singh , Vinayak Seema , Singh Rajendra
Published: August 2017

This article reports an experimental approach to analyze the kink effect phenomenon which is usually observed during the GaN high electron mobility transistor (HEMT) operation. De-trapping of charge carriers is one of the prominent reasons behind the kink effect. The commonly observed non-monotonic behavior of kink pattern is analyzed under two different device operating conditions and it is found that two different de-trapping mechanisms are responsible for a particular kink behavior. These different de-trapping mechanisms are investigated through a time delay analysis which shows the presence of traps with different time constants. Further voltage sweep and temperature analysis corroborates the finding that different de-trapping mechanisms play a role in kink behavior under different device operating conditions.
Output channel design for collecting closely-spaced particle streams from spiral inertial separation devices
Authors: Mohamed Yousuff Caffiyar , B Hamid Nor Hisham , Kamal Basha Ismail Hussain , Wei Ho Eric Tatt
Published: August 2017

Recent advances in inertial microfluidics designs have enabled high throughput, label-free separation of cells for a variety of bioanalytical applications. Various device configurations have been proposed for binary separation with a focus on enhancing the separation distance between particle streams to improve the efficiency of separate particle collection. These configurations have not demonstrated scaling beyond 3 particle streams either because the channel width is a constraint at the collection outlets or particle streams would be too closely spaced to be collected separately. We propose a method to design collection outlets for inertial focusing and separation devices which can collect closely-spaced particle streams and easily scale to an arbitrary number of collection channels without constraining the outlet channel width, which is the usual cause of clogging or cell damage. According to our approach, collection outlets are a series of side-branching channels perpendicular to the main channel of egress. The width and length of the outlets can be chosen subject to constraints from the position of the particle streams and fluidic resistance ratio computed from fluid dynamics simulations. We show the efficacy of this approach by demonstrating a successful collection of upto 3 particle streams of 7μm, 10μm and 15μm fluorescent beads which have been focused and separated by a spiral inertial device with a separation distance of only 10μm -15μm. With a throughput of 1.8mL/min, we achieved collection efficiency exceeding 90% for each particle at the respective collection outlet. The flexibility to use wide collection channels also enabled us to fabricate the microfluidic device with an epoxy mold that was created using xurography, a low cost, and imprecise fabrication technique.
Heterodyne x-ray diffuse scattering from coherent phonons
Authors: Kozina M. , Trigo M. , Chollet M. , Clark J. N. , Glownia J. M. , Gossard A. C. , Henighan T. , Jiang M. P. , Lu H. , Majumdar A. , Zhu D. , Reis D. A.
Published: August 2017

Here, we report Fourier-transform inelastic x-ray scattering measurements of photoexcited GaAs with embedded ErAs nanoparticles. We observe temporal oscillations in the x-ray scattering intensity, which we attribute to inelastic scattering from coherent acoustic phonons. Unlike in thermal equilibrium, where inelastic x-ray scattering is proportional to the phonon occupation, we show that the scattering is proportional to the phonon amplitude for coherent states. The wavevectors of the observed phonons extend beyond the excitation wavevector. The nanoparticles break the discrete translational symmetry of the lattice, enabling the generation of large wavevector coherent phonons. Elastic scattering of x-ray photons from the nanoparticles provides a reference for heterodyne mixing, yielding signals proportional to the phonon amplitude.
Quantitative assessment of spinal cord injury using circularly polarized coherent anti-Stokes Raman scattering microscopy
Authors: Bae Kideog , Zheng Wei , Huang Zhiwei
Published: August 2017

We report the quantitative assessment of spinal cord injury using the circularly polarized coherent anti-Stokes Raman scattering (CP-CARS) technique together with Stokes parameters in the Poincaré sphere. The pump and Stokes excitation beams are circularly polarized to suppress both the linear polarization-dependent artifacts and the nonresonant background of tissue CARS imaging, enabling quantitative CP-CARS image analysis. This study shows that CP-CARS imaging uncovers significantly increased phase retardance of injured spinal cord tissue as compared to normal tissue, suggesting that CP-CARS is an appealing label-free imaging tool for determining the degree of tissue phase retardance, which could serve as a unique diagnostic parameter associated with nervous tissue injury.
Self-consistent calculation of protein folding pathways
Authors: Orioli S. , a Beccara S. , Faccioli P.
Published: August 2017

We introduce an iterative algorithm to efficiently simulate protein folding and other conformational transitions, using state-of-the-art all-atom force fields. Starting from the Langevin equation, we obtain a self-consistent stochastic equation of motion, which directly yields the reaction pathways. From the solution of this set of equations we derive a stochastic estimate of the reaction coordinate. We validate this approach against the results of plain MD simulations of the folding of a small protein, which were performed on the Anton supercomputer. In order to explore the computational efficiency of this algorithm, we apply it to generate a folding pathway of a protein that consists of 130 amino acids and has a folding rate of the order of s−1.
Effect of doped substrates on the growth of GaAs nanowires via metal organic chemical vapor deposition
Authors: Liu Yan , Peng Yan , Guo Jingwei , La Dongsheng , Xu Zhaopeng , Wang Haiyan
Published: August 2017

Vertical GaAs nanowires were grown on different doped substrates via Metal Organic Chemical Vapor Deposition by catalyst assisted vapor-liquid-solid mechanism. It is found that both n and p type doped substrates affect catalyst distribution during the formation of alloy catalysts. The catalyst density decreases with an increase in the doping concentration of the substrates. In the growth of GaAs nanowires, the growth rate, which is mostly determined by the atoms diffusion from the pyrolysis of precursors on the surface of nanowires and substrates, is proportional to the catalyst densities. Moreover, the structures of as-grown nanowires are all pure zinc blende without any defects. These results will be valuable for the applications of nanowire-based optical and electrical devices.
Breeding in the fat-tailed dunnart following ovarian suppression with the gonadotrophin-releasing hormone agonist Lucrin® Depot
Authors: Witt Ryan R. , Rodger John J. , Rodger John C.
Published: August 2017

Lucrin Depot (AbbVie), a 1-month microsphere gonadotrophin-releasing hormone (GnRH) agonist preparation, was investigated as a potential agent to synchronise cycling in the fat-tailed dunnart (Sminthopsis crassicaudata). Forty-eight randomly selected females were treated with 5 or 10 mg kg−1 Lucrin Depot (n = 24 per dose). Eighteen females per treatment had their reproductive activity scored at 4, 8, 12 and 16 weeks using two ovarian (Graafian follicle and corpus luteum status) and two reproductive tract (uterine and vaginal muscularity and vascularity) parameters that formed a reproductive activity score. Six females per treatment were paired with a male at 4 weeks. Fertility was assessed between 8 and 16 weeks by pouch check, and thereafter by dissection. The effects of the 5 and 10 mg kg−1 doses were statistically equivalent. Females showed suppression at 4–8 weeks, an increase in reproductive activity at 8–12 weeks and all were cycling normally at 16 weeks. Six pouch young were born at 12 weeks to two females treated with the 5 mg kg−1 dose. Nine embryos were recovered at 16 weeks from two females treated with the 10 mg kg−1 dose. In conclusion, Lucrin Depot can suppress breeding, and fertile mating can occur in subsequent cycles in the dunnart. There is potential for Lucrin Depot to be used as an assisted breeding tool, but it may need to be combined with ovarian stimulation treatment to achieve practical levels of synchronisation in the fat-tailed dunnart.
Liquid-phase electron microscopy of molecular drug response in breast cancer cells reveals irresponsive cell subpopulations related to lack of HER2 homodimers
Authors: Peckys Diana B. , Korf Ulrike , Wiemann Stefan , de Jonge Niels
Published: August 2017

The development of drug resistance in cancer poses a major clinical problem. An example is human epidermal growth factor receptor 2 (HER2) overexpressing breast cancer often treated with anti-HER2 antibody therapies, such as trastuzumab. Because drug resistance is rooted mainly in tumor cell heterogeneity, we examined the drug effect in different subpopulations of SKBR3 breast cancer cells and compared the results with those of a drug-resistant cell line, HCC1954. Correlative light microscopy and liquid-phase scanning transmission electron microscopy were used to quantitatively analyze HER2 responses upon drug binding, whereby many tens of whole cells were imaged. Trastuzumab was found to selectively cross-link and down-regulate HER2 homodimers from the plasma membranes of bulk cancer cells. In contrast, HER2 resided mainly as monomers in rare subpopulations of resting and cancer stem cells (CSCs), and these monomers were not internalized after drug binding. The HER2 distribution was hardly influenced by trastuzumab for the HCC1954 cells. These findings show that resting cells and CSCs are irresponsive to the drug and thus point toward a molecular explanation behind the origin of drug resistance. This analytical method is broadly applicable to study membrane protein interactions in the intact plasma membrane, while accounting for cell heterogeneity.
CRISPR-DAV: CRISPR NGS data analysis and visualization pipeline
Authors: Wang Xuning , Tilford Charles , Neuhaus Isaac , Mintier Gabe , Guo Qi , Feder John N , Kirov Stefan
Published: August 2017

The simplicity and precision of CRISPR/Cas9 system has brought in a new era of gene editing. Screening for desired clones with CRISPR-mediated genomic edits in a large number of samples is made possible by next generation sequencing (NGS) due to its multiplexing. Here we present CRISPR-DAV (CRISPR Data Analysis and Visualization) pipeline to analyze the CRISPR NGS data in a high throughput manner. In the pipeline, Burrows-Wheeler Aligner and Assembly Based ReAlignment are used for small and large indel detection, and results are presented in a comprehensive set of charts and interactive alignment view.

Availability and implementation

CRISPR-DAV is available at GitHub and Docker Hub repositories: https://github.com/pinetree1/crispr-dav.git and https://hub.docker.com/r/pinetree1/crispr-dav/.
Diverging effects of enalapril or eplerenone in primary prevention against doxorubicin-induced cardiotoxicity
Authors: Hullin Roger , Métrich Mélanie , Sarre Alexandre , Basquin Denis , Maillard Marc , Regamey Julien , Martin David
Published: August 2017

Aims

Clinical studies suggest beneficial effects of renin–angiotensin system blockade for prevention of left ventricular (LV) dysfunction after chemotherapy. However, the efficacy of this strategy as primary prevention has been poorly studied. This study aimed at identifying the pathophysiological mechanisms by which mineralocorticoid receptor antagonism (MRA) or angiotensin converting enzyme inhibition (ACEi) provide protection against doxorubicin-induced cardiotoxicity (DIC) in mouse models of acute and chronic toxicity.

Methods and results

Acute DIC was induced by a single injection of Dox at 15 mg/kg and chronic DIC applied 5 injections of Dox at 4 mg/kg/week. MRA was achieved using eplerenone or cardiomyocyte-specific ablation of the MR gene in transgenic mice and ACEi using enalapril. Drugs were provided with the first dose of Dox and applied until the end of the study. In both model of DIC, Dox induced cardiac atrophy with decreased LV volume, reduced cardiomyocyte cell size, and cardiac dysfunction. In the acute model, neither MRA nor ACEi protected against these manifestations of DIC. In the chronic model, concomitant treatment with eplerenone did not protect against DIC and drastically increased plasma aldosterone levels and cardiac levels of angiotensin II type 1 receptor and of connective tissue growth factor (CTGF), as observed in acute DIC. Enalapril treatment in the chronic model, however, protected against cardiac dysfunction and cardiomyocyte atrophy and was associated with increased activation of the PI3K/AKT/mTOR pathway along with normal levels of CTGF.

Conclusion

Enalapril and eplerenone disparately impact on cellular signalling in DIC. Eplerenone, on top of Dox treatment was not protective and associated with increased levels of plasma aldosterone and of cardiac CTGF. In contrast, we show that primary prevention with enalapril preserves LV morphology and function in a clinically relevant model of chronic DIC, with increased stimulation of the PI3K/AKT/mTOR axis and normal CTGF levels suggesting potential therapeutic implications.
A Brief History of Limb Lengthening
Authors: Birch John G.
Published: August 2017

In the last 35 years, orthopaedic surgeons have witnessed 3 major advances in the technique of limb lengthening: “distraction osteogenesis” facilitated by Gavriil Ilizarov method and infinitely-adaptable circular fixator with fine-wire bone fragment fixation; the introduction of the “6-strut” computer program-assisted circular fixators to effect complex deformity correction simultaneously; and the development of motorized intramedullary lengthening nails. However, the principles and associated complications of these techniques are on the basis of observations by Codivilla, Putti, and Abbott from as much as 110 years ago. This review notes the contribution of these pioneers in limb lengthening, and the contribution of Thor Heyerdahl principles of tolerance and diversity to the dissemination of Ilizarov principles to the Western world.
Fassier-Duval Telescopic System: How I Do It?
Authors: Fassier Francois
Published: August 2017

The author describes step-by-step the technique for Fassier-Duval rodding of both femurs and tibiae in osteogenesis imperfecta. Preoperative evaluations and planning, postoperative care and place of bisphosphonates as explained. Emphasis is given on the different tricks to avoid intraoperative problems.
Lower Extremity Deformity Management in Amyoplasia: When and How
Authors: Song Kit
Published: August 2017

This article presents an approach to the musculoskeletal problems of children with amyoplasia. Although a very high percentage of children with have ambulatory potential, activity and function decline over time. Strong consideration of external resources and support available to the child and family are important considerations in recommending surgery as is the timing of interventions to align with childhood development.
Peripheral Blunt Dissection: Using a Microhoe-Facilitated Method for Descemet Membrane Endothelial Keratoplasty Donor Tissue Preparation
Authors: Borovik Armand M. , Perez Mauricio , Lifshitz Tova , Einan-Lifshitz Adi , Sorkin Nir , Boutin Tanguy , Showail Mahmood , Rosenblatt Amir , Rootman David S.
Published: August 2017

Purpose:

To describe a modified technique for Descemet membrane donor tissue preparation that facilitates the original Melles stripping technique.

Methods:

Descemet membrane is prepared using a Rootman/Goldich modified Sloane microhoe, using a blunt instrument as opposed to a sharp blade or needle and begins dissection within the trabecular meshwork. The trabecular tissue is dissected for 360 degrees, and then Descemet membrane is stripped to approximately 50%. A skin biopsy punch is then used to create fenestration in the cornea, which is used to mark an “F.” on the stromal side of Descemet membrane to aid in orientation of the graft. Trephination of the membrane is then performed and stripping is completed. The tissue is stained with 0.06% trypan blue and aspirated into an injector for insertion into the anterior chamber.

Results:

Before converting to the technique described, 5 of 75 (6.7%) tissues were wasted and 7 of 75 (9.3%) tissues with radial tears were salvaged for use. Since converting to the new technique, only 1 of 171 (0.6%) (P = 0.01) tissues was wasted and 7 of 171 (4.1%) (P = 0.2) tissues with radial tears were salvaged.

Conclusions:

The peripheral blunt dissection technique offers an improvement over the technique originally described by Melles et al, as the incidence of tissue wastage and tears is lower, it is easy to learn, has low stress, and is reproducible. Combining this with a stromal surface letter mark ensures correct orientation of the tissue against the corneal stroma of the recipient.
Recognition and Management of Acute Dacryocystic Retention
Authors: McGrath Lindsay A. , Satchi Kahmi , McNab Alan A.
Published: August 2017

Purpose:

Acute noninfectious dacryocystic retention is an under-recognized condition heralded by painful lacrimal sac swelling, obstruction, and epiphora. This longitudinal chart review aimed to estimate the incidence of this condition in an urban Australian population, while further defining the signs and symptoms of the disease and options for management.

Methods:

We retrospectively reviewed the charts of 1,593 consecutive patients presenting with acquired nasolacrimal duct obstruction and epiphora between 1990 and 2015. The records of patients with acute dacryocystic retention were analyzed for age, gender, clinical features, and management.

Results:

Of all patients presenting with nasolacrimal duct obstruction, 20 were found to have acute dacryocystic retention. The mean age was 42.2 ± 9.3. There was an equal distribution of laterality, and only 2 cases (10%) were bilateral. There was a statistically significant female predominance, and most patients presented reporting 2 to 3 previous episodes. At presentation, 30% of patients reported spontaneous passage of a dacryolith. Despite this, 70% of affected patients required surgical management, with a 64% incidence of stones noted at the time of dacryocystorhinostomy.

Conclusions:

Acute dacryocystic retention is an uncommon, but even less frequently identified condition, most common in middle-aged women. Improved understanding of this condition and its natural history is likely to enhance patient counseling and avoid ineffective use of antibiotics in affected patients.
Surface-Engineered Blood Adsorption Device for Hyperphosphatemia Treatment
Authors: Shi Quan , Jolly Michael , Mccord Marian G. , Joy Melanie S.
Published: August 2017

Correspondence: Melanie S. Joy, PharmD, PhD, University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, Department of Pharmaceutical Sciences, Mail Stop C238, Room V20-4108, 12850 East Montview Blvd, Aurora, CO 80045. Email: Melanie.Joy@ucdenver.edu The research employed surface engineering methods to develop, optimize, and characterize a novel textile-based hemoadsorption device for hyperphosphatemia in hemodialysis-dependent end-stage kidney disease. Phosphate adsorbent fabrics (PAFs) were prepared by thermopressing alumina powders to polyester filtration fabrics and treatment with trimesic acid (TMA). For static experiments, phosphate adsorption capacity in buffer solution, plasma, and blood were evaluated by submersing the PAFs in 100 ml. For dynamic experiments, PAFs were equipped in a device prototype and incorporated in a pump-driven circuit. Phosphates were determined by a colorimetric assay and an Ortho Clinical Diagnostics Vitros 5600 Integrated analyzer. The maximum loading amount of TMA-alumina on PAFs was approximately 35 g/m2 under 260°C processing temperature. Phosphate adsorption capacity increased with initial concentration. Adsorption isotherms from buffer demonstrated a maximum phosphate adsorption capacity of approximately 893 mg/m2 at 37.5°C, pH 7.4, with similar results from plasma and whole blood. Measured phosphate concentrations during simulations demonstrated a 42% reduction, confirming the high capacity of the PAFs for removing phosphate from whole blood. Results from the current study indicated that an alumina-TMA treated PAF can dramatically reduce phosphate concentrations from biological samples. The technology could potentially be used as a tunable adsorbent for managing hyperphosphatemia in kidney disease.
Quality Assessment of Prognostic Studies Using Cancer Stem Cell Markers in Oral Squamous Cell Carcinoma
Authors: Teixeira Marina G. , Corrêa Luciana
Published: August 2017

Cancer stem cells (CSC) have been investigated as prognostic markers in oral squamous cell carcinoma (OSCC). However, an assessment of the reporting quality of these studies has not been performed yet. The aim of this study was to describe the reporting quality of prognostic studies involving CSCs and OSCC, focusing mainly on the immunohistochemical reproducibility. By means a systematic review, 34 articles were selected. Analyses of both general reporting quality and immunohistochemistry technique were performed by using checklists for multiple aspects related to study reproducibility. A total of 21 different CSC markers were cited in the selected studies, evaluated by means of a wide range of antibodies, most of them (40.3%) without clone description. Discrepancies in intracellular immunolabeling were noted for some markers. The mean global score for general quality assessment revealed limits in the quality of the articles. The main problems were related to lack of report on OSCC characteristics and treatment, sample size rationale, and sensitivity analysis or internal validation of the markers. Although there was a high frequency of studies having “good or very good” score for immunohistochemistry reproducibility, the frequency of articles with “poor or very poor” score for individual items was expressive, mainly for description of immunolabeling analysis (38.2% of the studies were poorly described). In conclusion, although there is a significant range of CSC markers with promising results for prognosis of OSCC, the inadequate reporting of important sections in the published studies, including immunohistochemistry technique, may limit the quality of the investigation.
The Utility of NKX2.2 and TLE1 Immunohistochemistry in the Differentiation of Ewing Sarcoma and Synovial Sarcoma
Authors: Rooper Lisa M. , Sharma Rajni , Gocke Christopher D. , Belchis Deborah A.
Published: August 2017

Although molecular testing can definitively distinguish Ewing sarcoma (EWS) from synovial sarcoma (SS) it is frequently desirable to provide a confident preliminary diagnosis before such analysis can be completed. Recently, the nuclear markers NKX2.2 and TLE1 have been shown to have good sensitivity but imperfect specificity, respectively, for EWS and SS. However, the performance of these markers has not been extensively evaluated within this specific differential diagnosis. This study performed NKX2.2, TLE1, and CD99 immunohistochemistry in a group of EWS and SSs confirmed by reverse transcription-polymerase chain reaction to evaluate the utility of these novel markers in this context. NKX2.2 staining was overall 75% sensitive and 91.7% specific for EWS and was never seen in SS. Although the specificity of TLE1 staining was impacted by antibody used, it was at best only 75% specific for SS. However, a lack of reactivity had a 100% negative predictive value against a SS diagnosis. Overall, immunohistochemistry for NKX2.2 and TLE1 can provide a useful first step in helping to distinguish EWS and SS.
FISH Analysis of TOP2A and HER-2 Aberrations in Female Breast Carcinoma on Archived Material: Egyptian NCI Experience
Authors: Badawy Omnia M. , Loay Iman
Published: August 2017

Background:

HER-2 and TOP2A genes are considered of great importance in breast cancer. Their copy number variability has been proposed to be a marker for the degree of chromosomal instability. Owing to the close proximity of TOP2A gene to HER-2 gene chromosome 17, TOP2A status is believed to affect therapeutic plan. The percentage of TOP2A aberrations is greatly variable among different studies.

Aim of Work:

Is to investigate the relation between TOP2A and HER-2 gene amplification using fluorescence in situ hybridization technique.

Materials and Methods:

Archival blocks of 112 breast cancer Egyptian female patients were retrieved from the pathology department at NCI, Cairo University were retrieved and investigated using fluorescence in situ hybridization technique for TOP2A and HER-2 gene assessment. In addition, correlation with some clinicopathologic parameters was done.

Results:

HER-2 gene amplification was encountered in about 33% of cases. TOP2A gene amplification and deletion were detected in 23.9% and 2.8% of studied cases. Moderate agreement was obtained between results of HER-2 gene and TOP2A gene amplification.

Conclusions:

HER-2 and TOP2A genes amplification are 2 separate genetic yet closely related events in breast cancer. Polysomy of chromosome 17 is proposed to be an early event in occurrence of TOP2A gene amplification. Further studies regarding effect of TOP2A gene in response to anthracyclines in Egyptian population should be planned for to establish its role in therapeutic planning.
Basic Hemodynamic Monitoring Using Ultrasound or Electrical Cardiometry During Transportation of Neonates and Infants*
Authors: Boet Angele , Jourdain Gilles , Demontoux Serge , Hascoet Sebastien , Tissieres Pierre , Rucker-Martin Catherine , De Luca Daniele
Published: August 2017

Objectives:

Electrical cardiometry and heart ultrasound might allow hemodynamic evaluation during transportation of critically ill patients. Our aims were 1) to test feasibility of stroke volume monitoring using electrical cardiometry or ultrasound during transportation and 2) to investigate if transportation impacts on electrical cardiometry and ultrasound reliability.

Design:

Prospective, pragmatic, feasibility cohort study.

Setting:

Mobile ICUs specialized for neonatal and pediatric transportation.

Patients:

Thirty hemodynamically stable neonates and infants.

Interventions:

Patients enrolled underwent paired stroke volume measurements (180 before/after and 180 during the transfer) by electrical cardiometry (SVEC) and ultrasound (SVUS).

Measurements and Main Results:

No problems or malfunctioning occurred neither with electrical cardiometry nor with ultrasound. Ultrasound lasted on average 90 (10) seconds, while 45 (15) seconds were needed to instigate electrical cardiometry monitoring. Coefficient of variation was higher for SVUS (before/after: 0.57; during: 0.66) than for SVEC (before/after: 0.38; during: 0.36). Correlations between SVEC and SVUS before/after and during the transfer were r equal to 0.57 and r equal to 0.8, respectively (p always < 0.001). Bland-Altman analysis showed that stroke volume tends to be higher if measured by electrical cardiometry. SVEC measured before (5.5 [2.4] mL), during (5.4 [2.4] mL), and after the transfer (5.4 [2.3] mL) are similar (p = 0.955); same applies for SVUS before (2.6 [1.5] mL), during (2.4 [2] mL), and after (2.9 [2] mL) the transfer (p = 0.268).

Conclusions:

Basic hemodynamic monitoring is feasible during pediatric and neonatal transportation both with electrical cardiometry and ultrasound. These two techniques show comparable reliability, although stroke volume was higher if measured by electrical cardiometry. The transportation itself does not affect the reliability of stroke volume measurements.
The Antimalarial Drug Artesunate Attenuates Cardiac Injury in A Rodent Model of Myocardial Infarction
Authors: Khan Areeg I. , Kapoor Amar , Chen Jianmin , Martin Lukas , Rogazzo Mara , Mercier Thomas , Decosterd Laurent , Collino Massimo , Thiemermann Christoph
Published: August 2017

Ischemic heart disease remains the leading cause of morbidity and mortality in the Western world. Artesunate is the WHO-recommended drug of choice for complicated malaria (with organ failure). The administration of high doses of artesunate is safe in healthy volunteers (up to 8 mg/kg i.v.) and patients with severe malaria (2.4 mg/kg i.v.). We investigated the effects of artesunate (1 mg/kg) or its active metabolite dihydroartemisinin (DHA; 0.1 mg/kg) in a model of transient myocardial ischemia/reperfusion (I/R) and evaluated the mechanism of action of the observed cardioprotective effects of artesunate and DHA. We report here for the first time that the administration of artesunate at the onset of reperfusion attenuates the myocardial injury associated with I/R. The observed beneficial effects of artesunate are associated with activation of the PI3K/Akt/ERK 1/2 (RISK) pathway, activation of endothelial nitric oxide synthase, inhibition of glycogen synthase kinase-3β, inhibition of nuclear factor kappa B, and activation of the STAT3 (SAFE) pathway. In conclusion, as artesunate has an excellent safety profile, the above data should stimulate clinical trials in patients with acute coronary syndromes.
Science with no fiction: measuring the veracity of scientific reports by citation analysis
Authors: Grabitz Peter , Lazebnik Yuri , Nicholson Josh , Rife Sean
Published: August 2017

The current crisis of veracity in biomedical research is enabled by the lack of publicly accessible information on whether the reported scientific claims are valid. One approach to solve this problem is to replicate previous studies by specialized reproducibility centers. However, this approach is costly or unaffordable and raises a number of yet to be resolved concerns that question its effectiveness and validity. We propose to use an approach that yields a simple numerical measure of veracity, the R-factor, by summarizing the outcomes of already published studies that have attempted to test a claim. The R-factor of an investigator, a journal, or an institution would be the average of the R-factors of the claims they reported. We illustrate this approach using three studies recently tested by a replication initiative, compare the results, and discuss how using the R-factor can help improve the veracity of scientific research.
Post-transcriptional regulation of mouse neurogenesis by Pumilio proteins
Authors: Zhang Meng , Chen Dong , Xia Jing , Han Wenqi , Cui Xiekui , Neuenkirchen Nils , Hermes Gretchen , Sestan Nenad , Lin Haifan
Published: August 2017

Despite extensive studies on mammalian neurogenesis, its post-transcriptional regulation remains under-explored. Here we report that neural-specific inactivation of two murine post-transcriptional regulators, Pumilio 1 (Pum1) and Pum2, severely reduced the number of neural stem cells (NSCs) in the postnatal dentate gyrus (DG), drastically increased perinatal apoptosis, altered DG cell composition, and impaired learning and memory. Consistently, the mutant DG neurospheres generated fewer NSCs with defects in proliferation, survival, and differentiation, supporting a major role of Pum1 and Pum2 in hippocampal neurogenesis and function. Cross-linking immunoprecipitation revealed that Pum1 and Pum2 bind to thousands of mRNAs, with at least 694 common targets in multiple neurogenic pathways. Depleting Pum1 and/or Pum2 did not change the abundance of most target mRNAs but up-regulated their proteins, indicating that Pum1 and Pum2 regulate the translation of their target mRNAs. Moreover, Pum1 and Pum2 display RNA-dependent interaction with fragile X mental retardation protein (FMRP) and bind to one another's mRNA. This indicates that Pum proteins might form collaborative networks with FMRP and possibly other post-transcriptional regulators to regulate neurogenesis.