bluuebunny/crossref_metadata_2025_split huggingface dataset:
The pathobiology of vascular malformations: insights from human and model organism genetics
Authors: Wetzel‐Strong Sarah E , Detter Matthew R , Marchuk Douglas A 
Published: November 2016

AbstractVascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature
Authors: Kreger Emily M. , Singer Sylvia T. , Witt Russell G. , Sweeters Nancy , Lianoglou Billie , Lal Ashutosh , Mackenzie Tippi C. , Vichinsky Elliott 
Published: November 2016

AbstractObjectiveAlpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described.MethodsWe retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence. A systematic review was performed, and additional reported cases are discussed.ResultsThree patients who underwent IUT for ATM were identified, and review of the literature revealed 17 reported cases. Of patients who received IUT, reported neurodevelopmental deficits occurred in 29% (4/14) and anatomic abnormalities in 55% (11/20). Four patients eventually underwent successful hematopoietic cell transplantation. Transfusion volumes were less than suggested guidelines for other causes of fetal anemia in 91.7% of the transfusions.ConclusionThis series demonstrates the potential for achieving full fetal development with normal neurologic outcomes in those affected by ATM. It provides support for continued patient and provider education about current benefits and risks of active prenatal therapy for fetuses with ATM, as well as continued research to optimize therapeutic strategies such as in utero transplantation. © 2016 John Wiley & Sons, Ltd.
Enhancement of electrical conductivity and other related properties of epoxidized natural rubber/carbon nanotube composites by optimizing concentration of 3‐aminopropyltriethoxy silane
Authors: Nakaramontri Yeampon , Nakason Charoen , Kummerlöwe Claudia , Vennemann Norbert 
Published: November 2016

Carbon nanotube (CNT)‐filled epoxidized natural rubber (ENR) composites were prepared by mixing in an internal mixer and thereafter on a two‐roll mill. Silane coupling agent, namely 3‐aminopropyltriethoxy silane (APTES), was directly incorporated in the ENR‐CNT composites during mixing of rubber and CNTs in the mixer, to perform in situ functionalization. It was found that pre‐crosslinking of ENR and APTES occurred especially at high APTES concentrations, such as 0.06 mL/(g of CNTs) and caused strong CNT agglomeration in the ENR matrix. However, the pre‐crosslinking could be reduced or avoided by decreasing the APTES concentration. In the concentration range 0.01–0.015 mL/(g of CNTs) of APTES, the APTES molecules were grafted on the CNT surfaces and generated new chemical linkages with the ENR. This improved the CNT dispersion in the ENR matrix and enhanced the composite properties. A very low approximately 0.5 phr of CNT threshold concentration for electric percolation was achieved in this type of composites. Also, three‐dimensional connected CNT networks were found to form in the ENR matrix at very low APTES levels. Thus, the electrical conductivity achieved in these composites reached the level required of conductive materials. POLYM. ENG. SCI., 57:381–391, 2017. © 2016 Society of Plastics Engineers
The putative involvement of actin‐binding proteins and cytoskeleton proteins in pathological mechanisms of ketamine cystitis—Revealed by a prospective pilot study using proteomic approaches
Authors: Yang Hsueh‐Hui , Zhai Wei‐Jun , Kuo Hann‐Chorng 
Published: November 2016

PurposeKetamine‐induced cystitis (KC) among chronic ketamine young abusers has increased dramatically and it has brought attention for Urologists. The underlying pathophysiological mechanism(s) of KC is still unclear. Therefore, the purpose of this study is to elucidate the possible pathophysiological mechanism(s) of KC through proteomic techniques.Experimental designBladder tissues are obtained from seven patients with KC, seven patients with interstitial cystitis/bladder pain syndrome, and five control subjects who underwent video‐urodynamic study followed by augmentation enterocystoplasty to increase bladder capacity. 2DE/MS/MS‐based approach, functional classifications, and network analyses are used for proteomic and bioinformatics analyses and protein validation is carried out by Western blot analysis.ResultsAmong the proteins identified, bioinformatics analyses revealed that several actin binding related proteins such as cofilin‐1, myosin light polypeptide 9, filamin A, gelsolin, lamin A are involved in the apoptosis. Besides, the contractile proteins and cytoskeleton proteins such as myosin light polypeptide 9, filamin A, and calponin are found downregulated in KC bladders.Conclusions and clinical relevanceIncreased apoptosis in KC might be mediated by actin‐binding proteins and a Ca2+‐activated protease. Rapid detrusor contraction in KC might be induced by contractile proteins and cytoskeleton proteins.
Appraisal of transplant‐related stressors, coping strategies, and psychosocial adjustment following kidney transplantation
Authors: Pisanti Renato , Lombardo Caterina , Luszczynska Aleksandra , Poli Luca , Bennardi Linda , Giordanengo Luca , Berloco Pasquale Bartolomeo , Violani Cristiano 
Published: November 2016

AbstractThis study examined the relations between appraisal of transplant‐related stressors, coping, and adjustment dimensions following kidney transplantation (KT). Two models were tested: (1) the main effects model proposing that stress appraisal and coping strategies are directly associated with adjustment dimensions; and (2) the moderating model of stress proposing that each coping strategy interacts with stress appraisal. Importantly, there is a lack of research examining the two models simultaneously among recipients of solid organ transplantation.A total of 174 KT recipients completed the questionnaires. Predictors of post‐transplant adjustment included appraisal of transplant‐related stressors and coping strategies (task‐, emotion‐, and avoidance‐focused). Adjustment dimensions were psychological distress, worries about the transplant, feelings of guilt, fear of disclosure of transplant, adherence, and responsibility for the functioning of the new organ. The main and moderating effects were tested with regression analyses.Appraisal of transplant‐related stressors and emotion‐oriented coping were related to all adjustment dimensions, except of adherence and responsibility. Task‐oriented coping was positively related to responsibility. Avoidance‐oriented coping was negatively correlated with adherence. Only 1 out of 18 hypothesized interactive terms was significant, yielding a synergistic interaction between appraisal of transplant‐related stressors and emotion‐oriented coping on the sense of guilt.The findings have the potential to inform interventions promoting psychosocial adjustment among KT recipients.
Secreted Ectodomain of Sialic Acid-Binding Ig-Like Lectin-9 and Monocyte Chemoattractant Protein-1 Synergistically Regenerate Transected Rat Peripheral Nerves by Altering Macrophage Polarity
Authors: Kano Fumiya , Matsubara Kohki , Ueda Minoru , Hibi Hideharu , Yamamoto Akihito 
Published: November 2016

Abstract
Peripheral nerves (PNs) exhibit remarkable self-repairing reparative activity after a simple crush or cut injury. However, the neuronal transection involving a nerve gap overwhelms their repairing activity and causes persistent paralysis. Here, we show that an implantation of the serum-free conditioned medium from stem cells from human exfoliated deciduous teeth (SHED-CM) immersed in a collagen sponge into the nerve gap formed by rat facial nerves transection restored the neurological function. In contrast, SHED-CM specifically depleted of a set of anti-inflammatory M2 macrophage inducers, monocyte chemoattractant protein-1 (MCP-1) and the secreted ectodomain of sialic acid-binding Ig-like lectin-9 (sSiglec-9) lost the ability to restore neurological function in this model. Notably, the combination of MCP-1 and sSiglec-9 induced the polarization of M2 macrophages in vitro, resulting in the expression of multiple trophic factors that enhanced proliferation, migration, and differentiation of Schwann cells, blood vessel formation, and nerve fiber extension. Furthermore, the implantation of a collagen graft containing MCP-1/sSiglec-9 into the nerve gap induced anti-inflammatory M2 macrophage polarization, generated a Schwann-cell bridge instead of fibrotic scar, induced axonal regrowth, and restored nerve function. The specific elimination of M2 macrophages by Mannosylated-Clodrosome suppressed the MCP-1/sSiglec-9-mediated neurological recovery. Taken together, our data suggest that MCP-1/sSiglec-9 regenerates PNs by inducing tissue-repairing M2 macrophages and may provide therapeutic benefits for severe peripheral nerve injuries.
Evolution acceptance and epistemological beliefs of college biology students
Authors: Borgerding Lisa A. , Deniz Hasan , Anderson Elizabeth Shevock 
Published: November 2016

AbstractEvolutionary theory is central to biology, and scientifically accurate evolution instruction is promoted within national and state standards documents. Previous literature has identified students’ epistemological beliefs as potential predictors of evolution acceptance. The present work seeks to explore more directly how student views of evolution are related to their epistemological beliefs. We hypothesize that evolution acceptance may be related to students’ epistemological beliefs and that this relationship may vary depending on students’ relationship to the field of biology, either as an experienced major, a new major, or a non‐major. Specifically, this manuscript investigates how college students’ evolution acceptance may be connected to Perry developmental levels for three distinct groups of students: upper‐level majors, first‐year majors, and non‐majors. A sequential explanatory mixed methods approach entailing quantitative surveys followed by individual interviews was employed. In total, 395 college‐level biology students from three classes were surveyed, and 44 students were interviewed. Descriptive quantitative trends were identified, and evolution acceptance varied predictably by both Perry level and Class. Qualitative analysis explained these quantitative findings in terms of participants’ identification with science, views of authority, views of the compatibility of evolution and religion, and appreciation for the tentative nature of science with respect to evolution. Potential implications for science educators at the college level are discussed. © 2016 Wiley Periodicals, Inc. J Res Sci Teach 54: 493–519, 2017
Surgical Treatment Results of Burn‐Related Oesophageal Strictures
Authors: Włodarczyk Janusz , Smęder Tomasz , Kużdżał Jarosław 
Published: November 2016

AbstractBackgroundPost‐burn oesophageal stricture is a late complication, which may require surgical intervention. The aim of the study was to compare gastric and colonic conduits and to evaluate the safety, efficacy and complications of these techniques.MethodsRetrospective analysis of all patients treated for burn‐related oesophageal strictures between 1989 and 2013. Oesophagectomy was performed via laparotomy and right thoracotomy, and/or cervical incision.ResultsForty‐six patients, including 29 men, aged 17–67 years (mean: 41 years), had burn‐related oesophageal strictures. The post‐operative follow‐up period ranged between 3 months and 30 years. Colonic transposition was used in 23 patients. In 21 patients, the oesophageal substitute was introduced through the posterior mediastinum, and in two patients the retrosternal route was used. Gastric conduit in was used in 21 patients and jejunal interposition in one patient. One patient underwent segmental oesophageal resection with end‐to‐end anastomosis. One patient had necrosis of the colonic conduit with anastomotic leakage, two patients had oesophago‐colonic anastomosis leakage, five developed anastomotic stenosis, and two had respiratory insufficiency. Among patients with a gastric conduit, anastomotic leakage occurred in four, cervical anastomotic stenosis occurred in two, and respiratory insufficiency occurred in three, and one patient had impaired gastric emptying that required surgical re‐intervention. Operative mortality was three patients (6.5%).ConclusionsThe use of colonic and gastric conduit is an effective and safe method for restoring the continuity of the gastrointestinal tract, with an acceptable rate of post‐operative complications. Patients who undergo oesophageal resection for post‐burn stricture require post‐operative systematic endoscopic control.
High-throughput FTIR-based bioprocess analysis of recombinant cyprosin production
Authors: Sampaio Pedro N , Sales Kevin C , Rosa Filipa O , Lopes Marta B , Calado Cecília R C 
Published: November 2016

Abstract
To increase the knowledge of the recombinant cyprosin production process in Saccharomyces cerevisiae cultures, it is relevant to implement efficient bioprocess monitoring techniques. The present work focuses on the implementation of a mid-infrared (MIR) spectroscopy-based tool for monitoring the recombinant culture in a rapid, economic, and high-throughput (using a microplate system) mode. Multivariate data analysis on the MIR spectra of culture samples was conducted. Principal component analysis (PCA) enabled capturing the general metabolic status of the yeast cells, as replicated samples appear grouped together in the score plot and groups of culture samples according to the main growth phase can be clearly distinguished. The PCA-loading vectors also revealed spectral regions, and the corresponding chemical functional groups and biomolecules that mostly contributed for the cell biomolecular fingerprint associated with the culture growth phase. These data were corroborated by the analysis of the samples’ second derivative spectra. Partial least square (PLS) regression models built based on the MIR spectra showed high predictive ability for estimating the bioprocess critical variables: biomass (R2 = 0.99, RMSEP 2.8%); cyprosin activity (R2 = 0.98, RMSEP 3.9%); glucose (R2 = 0.93, RMSECV 7.2%); galactose (R2 = 0.97, RMSEP 4.6%); ethanol (R2 = 0.97, RMSEP 5.3%); and acetate (R2 = 0.95, RMSEP 7.0%). In conclusion, high-throughput MIR spectroscopy and multivariate data analysis were effective in identifying the main growth phases and specific cyprosin production phases along the yeast culture as well as in quantifying the critical variables of the process. This knowledge will promote future process optimization and control the recombinant cyprosin bioprocess according to Quality by Design framework.
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner‐Hanhart syndrome
Authors: Soares Diogo C. , Stroparo Mariana N. , Lian Yu C. , Takakura Cristina Y. , Wolf Sabrina , Betz Regina , Kim Chong A. 
Published: November 2016

AbstractRichner‐Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model
Authors: Pirzadeh‐Miller Sara , Robinson Linda S. , Read Parker , Ross Theodora S. 
Published: November 2016

AbstractThis study explores the potential impact of the genetic counseling assistant (GCA) position on the efficiency of the genetic counseling field, evaluates attitudes regarding expansion of the genetic counseling field to include the GCA, and presents data on GCA endeavors and GCA job tasks as reported by GCAs, certified genetic counselors (CGCs), and program directors (PDs). Data on GCA roles and attitudes toward different aspects of the GCA position were collected via surveys of CGCs who have worked with GCAs, PDs who have and have not had experience with GCAs in their programs, and GCAs. We analyzed responses from 63 individuals: 27 PDs, 22 CGCs, and 14 GCAs. GCAs’ impact on efficiency was calculated via internal analysis of genetic patient volume per genetic counselor within the University of Texas Southwestern (UTSW) patient database prior to, and since the addition of, a GCA to the practice. The response rates for PDs, CGCs, and GCAs were 27 %, 79 %, and 61 %, respectively. Every CGC stated the GCA increased their efficiency. CGCs with a GCA reported a 60 % average increase in patient volume. This figure was congruent with internal data from the UTSW cancer genetics program (58.5 % increase). Appropriate responsibilities for GCAs as reported by CGCs and PDs (>90 %) include: data entry, shipping tests, administrative tasks, research, and ordering supplies. Regarding GCAs delivering test results, there was response variation whether this should be a job duty: 42 % of CGCs agreed to GCAs delivering negative results to patients, compared to 22 % of program directors. Twenty‐two percent of PDs expressed concern about the job title “Genetic Counseling Assistant.” Ninety percent of CGCs felt that GCA was a career path to becoming a CGC, compared to 42 % of PDs. Eighty‐three percent of GCAs who decided to apply to CGC graduate programs were accepted. We conclude the addition of a GCA to a genetic counseling practice contributes to increased efficiency and is one way to expand the reach of the profession.
INCREASING THE VERACITY OF IMPLICITLY BIASED RANKINGS
Authors: Jönsson Martin L. , Sjödahl Julia 
Published: November 2016

ABSTRACTIn spite of our good intentions and explicit egalitarian convictions, we habitually disfavor the underprivileged. The rapidly growing literature on implicit bias – unconscious, automatic tendencies to associate negative traits with members of particular social groups – points towards explanations of this dissonance, although rarely towards generalizable solutions. In a recent paper, Jennifer Saul (2013) draws attention to the alarming epistemological problems that implicit bias carries with it; since our judgments about each other are likely influenced by implicit bias, we have good reason to doubt their veracity. In this paper we explore a novel way to come to terms with the epistemological problem as it manifests itself in ranking situations, i.e. how we can know that the way in which we have ranked a group of people for a certain position, reflects their actual competence (or the best estimate of their competence given the evidence). On our approach, rather than attempting to make people less biased, we suggest that biased behavior can sometimes be corrected after the fact. In particular, the veracity of rankings can sometimes be improved by modifying the rankings directly. We investigate three methods that modify biased rankings, and argue that the last of these solves the epistemological problem that we are concerned with.
Oracle-guided scheduling for controlling granularity in implicitly parallel languages
Authors: ACAR UMUT A. , CHARGUÉRAUD ARTHUR , RAINEY MIKE 
Published: November 2016

AbstractA classic problem in parallel computing is determining whether to execute a thread in parallel or sequentially. If small threads are executed in parallel, the overheads due to thread creation can overwhelm the benefits of parallelism, resulting in suboptimal efficiency and performance. If large threads are executed sequentially, processors may spin idle, resulting again in sub-optimal efficiency and performance. This “granularity problem” is especially important in implicitly parallel languages, where the programmer expresses all potential for parallelism, leaving it to the system to exploit parallelism by creating threads as necessary. Although this problem has been identified as an important problem, it is not well understood—broadly applicable solutions remain elusive. In this paper, we propose techniques for automatically controlling granularity in implicitly parallel programming languages to achieve parallel efficiency and performance. To this end, we first extend a classic result, Brent's theorem (a.k.a. the work-time principle) to include thread-creation overheads. Using a cost semantics for a general-purpose language in the style of lambda calculus with parallel tuples, we then present a precise accounting of thread-creation overheads and bound their impact on efficiency and performance. To reduce such overheads, we propose an oracle-guided semantics by using estimates of the sizes of parallel threads. We show that, if the oracle provides accurate estimates in constant time, then the oracle-guided semantics reduces the thread-creation overheads for a reasonably large class of parallel computations. We describe how to approximate the oracle-guided semantics in practice by combining static and dynamic techniques. We require the programmer to provide the asymptotic complexity cost for each parallel thread and use runtime profiling to determine hardware-specific constant factors. We present an implementation of the proposed approach as an extension of the Manticore compiler for Parallel ML. Our empirical evaluation shows that our techniques can reduce thread-creation overheads, leading to good efficiency and performance.