bluuebunny/crossref_metadata_2025 huggingface dataset:
Surgeon and patient perceptions of cure in advanced gastrointestinal malignancies: Are we on the same page?
Authors: Lafaro Kelly J. , Li Arthur , Rodriguez Jenny , Clark Karen , Loscalzo Matthew , Wong F. Lennie , Melstrom Laleh G. , Warner Susanne G.
Published: May 2020

Background and Objectives

Effective communication is essential to complex shared decision making and is associated with improved recovery and pain control. However, patients and surgeons often have disparate expectations of treatment efficacy and perceptions of cure for advanced malignancies. This study measures correlation of patient and surgeon expectations with perceptions of cure.

Methods

Our prospective study surveying surgeon‐patient dyads before and after surgical consultation was performed for advanced abdominal malignancy between July and November 2017 at a single NCI designated cancer center using electronic questionnaires.

Results

Patients and surgeons' own opinions regarding surgical candidacy (Q1), chance at cure (Q2), and life expectancy (Q3) did not measurably change from pre‐ to postvisit survey as evidenced by unchanged response concordance (patients Q1 P = .82; Q2 P = .81; and Q3 P = .53; surgeon responses Q1: P = .17; Q2: P = .32; and Q3: P = .50). Patient and surgeon perception of likelihood of cure and of estimated life expectancy remained discordant in pre‐ and postvisit surveys (Q2: P = .006 and Q3: P = .03).

Conclusions

These data highlight the stark differences between patient and surgeon perceptions of cure and prognosis of gastrointestinal cancers. These results prove that a larger scale study using this electronic questionnaire is feasible and important to better understand these differences and enhance shared decision making.
Screening gas‐phase chemical kinetic models: Collision limit compliance and ultrafast timescales
Authors: Yalamanchi Kiran K. , Tingas Efstathios‐Al , Im Hong G. , Sarathy S. Mani
Published: May 2020

Detailed gas‐phase chemical kinetic models are widely used in combustion research, and many new mechanisms for different fuels and reacting conditions are developed each year. Recent works have highlighted the need for error checking when preparing such models, but a useful community tool to perform such analysis is missing. In this work, we present a simple online tool to screen chemical kinetic mechanisms for bimolecular reactions exceeding collision limits. The tool is implemented on a user‐friendly website, cloudflame.kaust.edu.sa, and checks three different classes of bimolecular reactions; (ie, pressure independent, pressure‐dependent falloff, and pressure‐dependent PLOG). In addition, two other online modules are provided to check thermodynamic properties and transport parameters to help kinetic model developers determine the sources of errors for reactions that are not collision limit compliant. Furthermore, issues related to unphysically fast timescales can remain an issue even if all bimolecular reactions are within collision limits. Therefore, we also present a procedure to screen ultrafast reaction timescales using computational singular perturbation. For demonstration purposes only, three versions of the rigorously developed AramcoMech are screened for collision limit compliance and ultrafast timescales, and recommendations are made for improving the models. Larger models for biodiesel surrogates, tetrahydropyran, and gasoline surrogates are also analyzed for exemplary purposes. Numerical simulations with updated kinetic parameters are presented to show improvements in wall‐clock time when resolving ultrafast timescales.
Risk Assessment and Early Mobilization Pathway Following Pediatric Tracheostomy: A Pilot Study
Authors: Sioshansi Pedrom C. , Byrne Eilish , Freccero Allison , Meister Kara D. , Sidell Douglas R.
Published: May 2020

Objectives/Hypothesis

To confirm the standard of care pertaining to postoperative mobilization practices following initial tracheostomy, to establish face validity of novel early mobilization tools, and to conduct a safety and feasibility pilot study.

Study Design

Multi‐institutional survey and prospective cohort study.

Methods

Experts at our tertiary‐care children's hospital developed an Early Pediatric Mobility Pathway for tracheostomy patients utilizing a novel risk‐assessment tool. Surveys were distributed to professional colleagues in similar children's hospitals to establish face validity and incorporate respondent feedback. Additional surveys were disseminated to tertiary‐care children's hospitals across the country to establish the current standard of care, and a pilot study was conducted.

Results

Seventy‐seven percent of respondents from tertiary hospitals across the country confirmed the standard of care to defer mobilization until the first trach change. Greater than 83% of the respondents used to establish face validity of the tools agreed with the clinical components and scoring structure. The safety and feasibility of early mobilization prior to initial trach change was confirmed with a pilot of 10 pediatric patients without any adverse events.

Conclusions

Mobilization of pediatric patients prior to initial trach change is feasible and can be safe when risk factors are assessed by a multidisciplinary team.

Level of Evidence

4 Laryngoscope, 131:E653–E658, 2021
The Pediatric Sinus Staging System: A Computed Tomography–Based Approach to Grading Pediatric Sinus Disease
Authors: Melder Katie , Shaffer Amber , Govil Nandini , Stapleton Amanda
Published: May 2020

Objectives/Hypothesis

Pediatric chronic rhinosinusitis (CRS) is a prevalent disease with few objective measurements available to predict which patients will require surgical intervention. The Lund‐Mackay (LM) score for computed tomography (CT) scans is one objective data point available for the adult population; however, a dedicated scoring system in the pediatric population has not been popularized. We present a Pediatric Sinus Staging System (PSSS) that considers both opacification and the varying developmental stages of each sinus.

Study Design

Retrospective chart review.

Methods

We analyzed CT scans of pediatric patients with a diagnosis of CRS. Both LM and PSSS scores were calculated for each scan. Groups were formed based on treatment outcomes and included patients who were treated successfully with medical therapy and/or adenoidectomy (med/adenoid), patients who required functional endoscopic sinus surgery (FESS), and patients who required revision FESS.

Results

Overall, 76 patient scans were reviewed. PSSS values were significantly less than LM for the control group (P = .001) and significantly higher for patients with cystic fibrosis (P = .027) and with CRS with polyps (P = .001). The ideal cutoff for PSSS to distinguish between med/adenoid and single FESS treatment with a sensitivity 90.6% and specificity of 50.0% was ≥2.

Conclusions

The PSSS gives a more descriptive score by accounting for the opacification and pneumatization of each sinus. Our current results show similar values between PSSS and LM scores, which suggests internal validity. In addition, a PSSS score of ≥2 may help physicians better counsel families on the likelihood of requiring FESS. Further investigation is needed to fully validate the PSSS.

Level of Evidence

3b Laryngoscope, 131:E642–E648, 2021
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations
Authors: Yang Mingxin , Weng Qinjie , Pan Xiaoxia , Hussain Hafiz Muhammad Jafar , Yu Shuwen , Xu Jing , Yu Xialian , Liu Yunzi , Jin Yuanmeng , Zhang Chunli , Li Xiao , Ren Hong , Chen Nan , Xie Jingyuan
Published: May 2020

Background

Lipoprotein glomerulopathy (LPG) is a rare kidney disease caused by APOE mutations. The aim of this study was to correlate the genetic and clinical features of LPG.

Methods

Totally eight LPG patients were recruited in this study and Sanger sequencing of APOE was performed for all available family members. Clinical and histological features were analyzed. A literature review of LPG was also conducted.

Results

Genetic analysis revealed five patients with APOE‐Kyoto, two with APOE‐Osaka/Kurashiki, and one with APOE‐Chicago mutations. LPG patients with urine protein reduced more than 50% had a slower decrease in renal function than those with less urine protein reduction (estimated glomerular filtration rate reduction rate −5.0 ± 0.8 vs. 1.5 ± 0.7 ml/min per 1.73 m2⋅month−1, p = .03). We then enrolled 95 LPG patients from previous studies and this study. LPG patients had higher blood pressure (mean arterial pressure: 109.4 ± 19.4 vs. 94.4 ± 11.1 mmHg, p < .001) than the control group. Interestingly, patients with APOE mutations in the LDL receptor binding region had higher serum apolipoprotein E (apoE) levels [ln(apoE): 2.7 ± 0.4 vs. 2.0 ± 0.5 mg/dl, p < .001] in comparison to other domains.

Conclusion

Here, we report for the first time APOE‐Osaka/Kurashiki and APOE‐Chicago mutations in the Chinese population. LPG was associated with higher blood pressure and serum apoE levels were higher in patients with mutations in LDL receptor binding region. In addition, the findings further indicated that treatment of proteinuria might slow down renal function progression in these patients.
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
Authors: Mizobuchi Kei , Hayashi Takaaki , Yoshitake Kazutoshi , Fujinami Kaoru , Tachibana Toshiaki , Tsunoda Kazushige , Iwata Takeshi , Nakano Tadashi
Published: May 2020

Background

Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with biallelic CLN3 missense variants are not well elucidated.

Methods

We described a 26‐year‐old Japanese male patient with isolated retinal dystrophy. Whole‐exome sequencing (WES) and transmission electron microscopy (TEM) were performed.

Results

Whole‐exome sequencing identified a novel homozygous CLN3 missense variant [c.482C>T; p.(Ser161Leu)]. Ophthalmoscopy revealed retinal degeneration and macular atrophy, and later attenuated retinal vessels. Severely reduced responses were observed in both rod and cone electroretinograms. In TEM of the patient's lymphocytes, fingerprint profiles, which are specific findings in CLN3‐associated JNCL, were observed in 16/624 (2.56%) lymphocytes of the patient, who has never exhibited neurological signs during the 13‐year follow‐up period.

Conclusion

Our results indicated that this novel CLN3 missense variant is associated with teenage‐onset isolated retinal dystrophy. This is the first report of any patient with CLN3‐associated disorder in the Japanese population. Although fingerprint profiles have never been reported in CLN3‐associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types.
Nonprofit organisations, management and marketing strategies for survival: The case of philharmonic bands
Authors: Fonseca Inês , Paço Arminda , Figueiredo Vítor
Published: May 2020

Philharmonic bands, as nonprofit organizations (NPO's), need to adopt a perception of themselves as self‐sustaining systems and implement a viable business plan that plausibly demonstrates how the organisation can deliver products and services valued by its surrounding environment and thereby obtain the resources necessary for growth and sustainability. There is a gap in the literature, especially in the field of philharmonic marketing. Therefore, this study seeks to contribute towards boosting knowledge about marketing in the philharmonic band sector, leading to continued research in this artistic field that has so often proven crucial to community development. It seeks specifically to analyse strategies for capturing and maintaining the loyalty of potential musicians as well as the tools deployed by entities to promote and stage their activities and attract audiences, sponsors and services. This research adopted qualitative methodology with information being collected through a questionnaire with open questions sent by email to a selected sample of 200 philharmonic bands in Portugal. The results indicate that philharmonic bands currently find it more difficult to attract members, the attraction process has become more demanding and so they must become more efficient in this task. This analysis found similarities in the strategies applied by philharmonic bands to capture resources and for promotion, particularly focusing on potential musicians, resources, audiences and investors.
Associations between effort, importance, and self‐monitoring during and after a 12‐week behavioural weight management program
Authors: Eastman Abraham , Dixon Brittney N. , Ross Kathryn M.
Published: May 2020

Objective

Self‐monitoring of weight and caloric intake has been associated with improved weight loss and weight loss maintenance in behavioural weight loss programs; however, participants' adherence to self‐monitoring tends to decrease over time. To identify potential barriers to self‐monitoring adherence, the current study examined week‐to‐week associations between ratings of perceived effort, relative importance of weight loss goals, and adherence to self‐monitoring of weight and caloric intake during and after a behavioural weight loss programme.

Method

Participants were 74 adults with overweight and obesity enrolled in a 12‐week, Internet‐based weight loss programme followed by a 40‐week “maintenance” period during which no additional intervention was provided. Participants self‐reported adherence to self‐monitoring and completed ratings of effort and importance on a study website weekly throughout the study period (1 year).

Results

Longitudinal multilevel models demonstrated that higher ratings of effort were associated with fewer days of self‐monitoring of weight, β = −0.100, p < .0001, and caloric intake, β = −0.300, p < .0001. Conversely, higher ratings of importance were associated with more frequent self‐monitoring of weight, β = 0.360, p < .0001, and caloric intake, β = 0.742, p < .0001. Moreover, the magnitude of these associations were stronger during the maintenance period than during initial intervention, ps < .01.

Conclusions

Perceptions of effort and importance are both independently associated with adherence to self‐monitoring weight and caloric intake, and this effect appears to be stronger after the end of initial intervention. Future research should investigate whether tailoring intervention content based on these constructs can improve adherence to self‐monitoring.
Evolving Therapeutic Options for Chronic Graft‐versus‐Host Disease
Authors: Gonzalez Rebecca M. , Pidala Joseph
Published: May 2020

Despite improvements in prevention and treatment of acute graft‐versus‐host disease (GVHD), chronic GVHD (cGVHD) remains a significant contributor to morbidity and mortality of allogeneic transplant patients. Chronic GVHD remains a leading cause of late complications posttransplant and is impacted by donor‐, patient‐, and transplant‐related (hematopoietic cell transplant [HCT]) factors. Advances in the biological understanding of cGVHD have provided opportunities to improve clinical interventions for prevention and treatment. Expansion of posttransplantation cyclophosphamide beyond haploidentical HCTs has transformed alternative donor, matched, and mismatch GVHD outcomes and is currently being investigated in two upcoming clinical trials network prophylaxis studies. Although corticosteroids remain the cornerstone therapy, several clinical trials are prospectively investigating the utility of using novel agents in combination with corticosteroids as upfront therapy to mitigate prolonged steroid exposure. Several treatment options for patients with steroid‐refractory cGVHD are currently being investigated, and advances have resulted in ibrutinib becoming the first cGVHD agent approved by the U.S. Food and Drug Administration. We review recent advances in understanding of cGVHD pathophysiology and new approaches for the prevention and treatment of cGVHD.
Tailoring polyethersulfone/quaternary ammonium polysulfone ultrafiltration membrane with positive charge for dye and salt selective separation
Authors: Li Jiaye , Cui Zhenyu , Tao Ran , Yang Shuqian , Hu Mengyang , Matindi Christine , Gumbi Nozipho N. , Ma Xiaohua , Hu Yunxia , Fang Kuanjun , Li Jianxin
Published: May 2020

Polyethersulfone (PES)/quaternary ammonium polysulfone (QAPSf) blend ultrafiltration (UF) membranes with positive charge were fabricated by nonsolvent induced phase separation (NIPS) for use in dye and salt selective separation. QAPSf was synthesized by nucleophilic substitution with chloromethylated polysulfone (CMPSf). The effect of the PES/QAPSf mass ratio on the morphology and performance of blend UF membranes were studied. The membranes' zeta potentials gradually changed from negative to positive with decreases in the PES/QAPSf mass ratio. At PES/QAPSf mass ratios of 30:70 and 10:90, the zeta potentials of the membranes reached +1.8 mV and + 5.9 mV, respectively. Additionally, the contact angles of the membranes decreased from 74° to 52° as the QAPSf content increased from 0 wt% to 90 wt%. Furthermore, the membrane with a PES/QAPSf mass ratio of 30:70 showed a high water permeance (181.4 LMH bar−1) and excellent dye and salt selective separation performance. The rejection ratios reached 99.1%, 87.8%, 99.6%, and 92.4% for dyes Congo red, methyl blue, Alixin blue 8GX, and basic blue 24, respectively, while those for salts Na2SO4, MgSO4, MgCl2, and NaCl were ≤ 10%. In addition, the PES/QAPSf membranes showed excellent antifouling performance and good operating stability with dye‐salt mixtures of various pHs and salt concentrations.
Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population
Authors: Zybert Katarzyna , Wozniacki Lukasz , Tomaszewska‐Sobczyńska Agnieszka , Wertheim‐Tysarowska Katarzyna , Czerska Kamila , Ołtarzewski Mariusz , Sands Dorota
Published: May 2020

Introduction

More than 2000 mutations have been identified since the discovery of the CFTR gene in 1989. However, only 346 mutations have been classified as cystic fibrosis (CF)‐causing mutations. Due to the increasing number of mutations and poor correlation between the genotype and phenotype, there is an urgent need to determine the mutations that are pathogenic, nonpathogenic, or lead to variable symptoms.

Aim

The aim of the study was to present the clinical characteristics of Polish patients with rare and novel CFTR mutations, with an attempt to determine the pathogenicity status of those variants.

Materials and Methods

The group included 13 patients born between September 2006 and May 2019, who underwent CF newborn screening and in whom two CFTR mutations, including at least one rare or a novel mutation, were identified.

Results

We identified 13 patients with mutations in both alleles of the CFTR gene, one of which was at least rare in Polish population (R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A) or was a mutation of unknown clinical consequences (H199R, L468P, A1217E, Q359R, T1036I, W1282R). None of them were described in the CFTR2 database. In all examined patients, sweat tests were elevated. The diagnosed patients presented with a wide spectrum of clinical symptoms. Broad clinical characteristics and test results are presented.

Conclusion

Pathogenic mutations are H199R, L468P, A1217E, Q359R, T1036I, W1282R, R289NfsX17, I618RfsX2, T682KfsX40, S1347PfsX13, W356X, E33X, dup.16,17A. Every patient with a mutation of unknown clinical consequences in one CFTR allele requires attentive follow‐up.
Limitations of regional ventilation inhomogeneity indices in children with cystic fibrosis
Authors: Verger Nicolas , Arigliani Michele , Raywood Emma , Duncan Julie , Negreskul Yulia , Bush Andrew , Aurora Paul
Published: May 2020

Background

Scond is a multiple breath washout (MBW) index that measures convection‐dependent ventilation inhomogeneity (CDI) arising within conductive airways, but the calculation method is unreliable in subjects with advanced cystic fibrosis (CF) lung disease. A new CDI index, Scond*, has been proposed for use in adults with CF and moderate to severe ventilation inhomogeneity. We aimed to evaluate the most appropriate CDI index in children and adolescents with CF and various degrees of inhomogeneity, and from that the most appropriate diffusion‐convection‐interaction index (Sacin or Sacin*).

Methods

Scond, Sacin and the alternative indices, Scond*, and Sacin* were retrospectively calculated in subjects with CF aged 3 to 18 years and age‐matched controls, who underwent sulfur hexafluoride MBW between 2003 and 2015. The upper limit of normal was based on 95th percentile of the control population.

Results

One hundred and twenty‐seven subjects with CF (44% male; mean age ± SD: 7.5 years ± 4.9) and 94 controls (53% male; 7.9 years ± 5.1) were included in the final analysis. All measures of ventilation inhomogeneity were significantly higher in children with CF. As predicted, Scond reached a maximum value at lung clearance index (LCI) values of approximately 9. In subjects with LCI ≥ 9 Scond* showed good correlation with LCI, whilst Scond had no relationship with LCI (Spearman rank correlation Scond*/LCI, 0.49; P < .01; Scond/LCI, −0.068; P = .46). In subjects with mild disease (LCI < 9) Scond was more frequently abnormal than Scond* (37% vs 16%; P = .01).

Conclusions

Scond and Sacin are sensitive indices of early regional inhomogeneity, but are of no value when LCI ≥ 9. In these subjects, Scond* & Sacin* are potential alternatives.
Esketamine nasal spray for treatment‐resistant depression
Authors: Chaplin Steve
Published: May 2020

A nasal spray formulation of esketamine (Spravato) was licensed as adjunctive therapy for the management of adults with treatment‐resistant major depression in December. This article discusses the properties, clinical trial efficacy and adverse effects of this new treatment option.
Streambed instabilities around a bridge pier in a dredged channel
Authors: Lade Abhijit D. , Kumar Bimlesh
Published: May 2020

We conducted flume experiments to study the morphological behaviour around a circular pier located downstream of a mining pit. Severe transverse erosion at the pier base as well as lowering of channel bed upstream of the pier was observed because of channel dredging. Streambed instability was analysed based on two non‐dimensional parameters, namely, pier exposure factor and normalized upstream incision depth. The maximum values of both these parameters were observed when the mining pit was dredged closest to the pier. We also observed growth in streambed instability with an increase in flow Reynolds number.
Effects of dams and reservoirs on organic matter decomposition in forested mountain streams in western Japan
Authors: Li Yanda , Kasahara Tamao , Chiwa Masaaki , Fujimoto Noboru
Published: May 2020

Damming of streams and rivers alters downstream ecosystem processes, and understanding its effects is essential in managing forested mountain streams. This study examined the effects of dams with a reservoir on organic matter decomposition and its seasonality in two neighbouring mountain streams over five seasons. The cotton‐strip assay and measurement of tensile strength loss were used to evaluate decomposition rates. In addition, the environmental factors, such as water level, water temperature, inorganic nitrogen concentrations and contribution of macro invertebrates were measured. The dams with a reservoir lowered decomposition rates downstream compared to upstream and unregulated sites, in all seasons. The decomposition rates also varied by season at all sites, with higher rates in summer and lowest in winter, and the seasonal variation was larger than the effects by the reservoirs in both streams. Seasonal variation in decomposition rates coincided with water temperature variation, suggesting strong influence of water temperature. However, the temperature differences did not explain the effects of reservoirs because water temperature was always higher at downstream sites. The downstream sites had lower nitrate concentrations and contribution of macroinvertebrates, and these factors may have greater effects than water temperature. Thus, damming of streams may lower the decomposition rates at downstream sites due to altered nutrient and biological effects. However, seasonal variation in water temperature may have more pronounced effects, resulting in greater seasonal variation than the difference among sites.
Knowledge discovery from remote sensing images: A review
Authors: Wang Lizhe , Yan Jining , Mu Lin , Huang Liang
Published: May 2020

The development of Earth observation (EO) technology has made the volume of remote sensing data archiving continually larger, but the knowledge hidden in massive remote sensing images has not been fully exploited. Through in‐depth research on the artificial intelligence (AI)‐based knowledge discovery approaches from remote sensing images, we divided them into four typical types according to their development stage, including rule‐based approaches, data‐driven approaches, reinforcement learning approaches, and ensemble methods. The basic principles, typical applications, advantages, and disadvantages have been detailed for commonly used algorithms within each category. Conclusions include the following: (a) Rule‐based, data‐driven and reinforcement learning algorithms form a trilogy from knowledge to data, and to capabilities. (b) Rule‐based data mining algorithms can provide prior knowledge for data‐driven approaches, the knowledge discovered by data‐driven models can be as an important complement to expert knowledge and rule sets, and reinforcement learning approaches can effectively make up for the lack of training samples or small training sample in data‐driven models. (c) The traditional data‐driven machine learning approaches and their ensemble methods are the current and may be the future mainstream methods for large regional and even global scale long time series remote sensing data mining and analysis, and improving their computing efficiency is the key research direction. (d) Deep learning, deep reinforcement learning, transfer learning, and an ensemble approach of the three may be the main means for small‐area scope, short time series, and key geoscience information extraction from remote sensing images within a long time of the future.

This article is categorized under:

Algorithmic Development > Spatial and Temporal Data Mining

Fundamental Concepts of Data and Knowledge > Big Data Mining

Technologies > Artificial Intelligence
Unraveling the structure and biological functions of RNA triple helices
Authors: Brown Jessica A.
Published: May 2020

It has been nearly 63 years since the first characterization of an RNA triple helix in vitro by Gary Felsenfeld, David Davies, and Alexander Rich. An RNA triple helix consists of three strands: A Watson–Crick RNA double helix whose major‐groove establishes hydrogen bonds with the so‐called “third strand”. In the past 15 years, it has been recognized that these major‐groove RNA triple helices, like single‐stranded and double‐stranded RNA, also mediate prominent biological roles inside cells. Thus far, these triple helices are known to mediate catalysis during telomere synthesis and RNA splicing, bind to ligands and ions so that metabolite‐sensing riboswitches can regulate gene expression, and provide a clever strategy to protect the 3′ end of RNA from degradation. Because RNA triple helices play important roles in biology, there is a renewed interest in better understanding the fundamental properties of RNA triple helices and developing methods for their high‐throughput discovery. This review provides an overview of the fundamental biochemical and structural properties of major‐groove RNA triple helices, summarizes the structure and function of naturally occurring RNA triple helices, and describes prospective strategies to isolate RNA triple helices as a means to establish the “triplexome”.

This article is categorized under:

RNA Structure and Dynamics > RNA Structure and Dynamics

RNA Structure and Dynamics > RNA Structure, Dynamics and Chemistry

RNA Structure and Dynamics > Influence of RNA Structure in Biological Systems
Four Models of Higher Education in 2030
Authors: Orr Dominic , Luebcke Maren , Schmidt J. Philipp , Ebner Markus , Wannemacher Klaus , Ebner Martin , Dohmen Dieter
Published: May 2020

This chapter provides four models of higher education for the year 2030, namely the Tamagotchi, Jenga, Lego Set, and Transformer models. The Tamagotchi model represents the classic approach to higher education, starting right after secondary school and leading up to a bachelor’s or master’s degree and then transitioning into employment, finishing the path of higher education. The Jenga model, while similar to Tamagotchi, appeals to nontraditional students because of its shorter learning span and focuses on later phases of self-learning and -organization. The Lego Set model is fittingly named after the individually combined modules of different sizes, making for a self-reliant and non-standardized learning path rather than one compact unit. The Transformer model represents learners whose initial phase of education may have long passed, but who return to higher education to acquire new basic knowledge or upskill their formal education. It relies on the idea that everyone must have opportunities to leave their current professional paths and change course.
Neutrino mass and dark matter from an approximate B − L symmetry
Authors: Van Loi Duong , Van Dong Phung , Van Soa Dang
Published: May 2020

Abstract

We argue that neutrino mass and dark matter can arise from an approximate B − L symmetry. This idea can be realized in a minimal setup of the flipped 3-3-1 model, which discriminates lepton families while keeping universal quark families and uses only two scalar triplets in order for symmetry breaking and mass generation. This proposal contains naturally an approximate non-Abelian B − L symmetry which consequently leads to an approximate matter parity. The approximate symmetries produce small neutrino masses in terms of type II and III seesaws and may make dark matter long lived. Additionally, dark matter candidate is either unified with the Higgs doublet by gauge symmetry or acted as an inert multiplet. The Peccei-Quinn symmetry is discussed. The gauge and scalar sectors are exactly diagonalized. The signals of the new physics at colliders are examined.
A light dilaton at the LHC
Authors: Ahmed Aqeel , Mariotti Alberto , Najjari Saereh
Published: May 2020

Abstract

In this paper, we explore the possibility that a light dilaton can be the first sign of new physics at the LHC. The dilaton could emerge in approximate scale invariant UV completions of the SM as the Goldstone boson associated with the spontaneous breaking of the scale invariance. We study in detail the phenomenology of the dilaton at the LHC in the mass range of [10–300] GeV including the case where the dilaton can mix with the SM Higgs boson, leading to an interesting interplay between direct and indirect constraints. A possibility that the dilaton acts as a portal to a dark sector is also considered. As a minimal realization, the dark sector includes a dark photon lighter than the dilaton implying sizeable missing energy signatures. Several simplified benchmark models that can encode different UV completions are discussed, for which we scrutinize the current and future LHC reach.
Horizon instability of the extremal BTZ black hole
Authors: Gralla Samuel E. , Ravishankar Arun , Zimmerman Peter
Published: May 2020

Abstract

We study real-time propagation of a massive scalar field on the extremal BTZ black hole spacetime, focusing on the Aretakis instability of the event horizon. We obtain a simple time-domain expression for the AdS3 retarded Green function with Dirichlet boundary conditions and construct the corresponding time-domain BTZ retarded Green function using the method of images. The field decays at different rates on and off the horizon, indicating that transverse derivatives grow with time on the horizon (Aretakis instability). We solve the null geodesic equation in full generality and show that the instability is associated with a class of null geodesics that orbit near the event horizon arbitrarily many times before falling in. In an appendix we also treat the problem in the frequency domain, finding consistency between the methods.
The imprint of hydrothermal fluids on trace-element contents in white mica and tourmaline from the Panasqueira W–Sn–Cu deposit, Portugal
Authors: Codeço Marta S. , Weis Philipp , Trumbull Robert B. , Van Hinsberg Vincent , Pinto Filipe , Lecumberri-Sanchez Pilar , Schleicher Anja M.
Published: May 2020

White mica and tourmaline are the dominant hydrothermal alteration minerals at the world-class Panasqueira W–Sn–Cu deposit in Portugal. Thus, understanding the controls on their chemical composition helps to constrain ore formation processes at this deposit and determine their usefulness as pathfinder minerals for mineralization in general. We combine whole-rock geochemistry of altered and unaltered metasedimentary host rocks with in situ LA-ICP-MS measurements of tourmaline and white mica from the alteration halo. Principal component analysis (PCA) is used to better identify geochemical patterns and trends of hydrothermal alteration in the datasets. The hydrothermally altered metasediments are enriched in As, Sn, Cs, Li, W, F, Cu, Rb, Zn, Tl, and Pb relative to unaltered samples. In situ mineral analyses show that most of these elements preferentially partition into white mica over tourmaline (Li, Rb, Cs, Tl, W, and Sn), whereas Zn is enriched in tourmaline. White mica has distinct compositions in different settings within the deposit (greisen, vein selvages, wall rock alteration zone, late fault zone), indicating a compositional evolution with time. In contrast, tourmaline from different settings overlaps in composition, which is ascribed to a stronger dependence on host rock composition and also to the effects of chemical zoning and microinclusions affecting the LA-ICP-MS analyses. Hence, in this deposit, white mica is the better recorder of the fluid composition. The calculated trace-element contents of the Panasqueira mineralizing fluid based on the mica data and estimates of mica-fluid partition coefficients are in good agreement with previous fluid-inclusion analyses. A compilation of mica and tourmaline trace-element compositions from Panasqueira and other W–Sn deposits shows that white mica has good potential as a pathfinder mineral, with characteristically high Li, Cs, Rb, Sn, and W contents. The trace-element contents of hydrothermal tourmaline are more variable. Nevertheless, the compiled data suggest that high Sn and Li contents are distinctive for tourmaline from W–Sn deposits.
Microstructure and mechanical properties of 316L austenitic stainless steel processed by different SLM devices
Authors: Röttger A. , Boes J. , Theisen W. , Thiele M. , Esen C. , Edelmann A. , Hellmann R.
Published: May 2020

In this work, we examined the influence of different types of selective laser melting (SLM) devices on the microstructure and the associated material properties of austenitic 316L stainless steel. Specimens were built using powder from the same powder batch on four different SLM machines. For the specimen build-up, optimized parameter sets were used, as provided by the manufacturers for each individual SLM machine. The resulting microstructure was investigated by means of scanning electron microscopy, which revealed that the different samples possess similar microstructures. Differences between the microstructures were found in terms of porosity, which significantly influences the material properties. Additionally, the build-up direction of the specimens was found to have a strong influence on the mechanical properties. Thus, the defect density defines the material’s properties so that the ascertained characteristic values were used to determine a Weibull modulus for the corresponding values in dependence on the build-up direction. Based on these findings, characteristic averages of the mechanical properties were determined for the SLM-manufactured samples, which can subsequently be used as reference parameters for designing industrially manufactured components.
Consumption of red meat, genetic susceptibility, and risk of LADA and type 2 diabetes
Authors: Löfvenborg Josefin E. , Ahlqvist Emma , Alfredsson Lars , Andersson Tomas , Groop Leif , Tuomi Tiinamaija , Wolk Alicja , Carlsson Sofia
Published: May 2020

Purpose

Red meat consumption is positively associated with type 1 (T1D) and type 2 (T2D) diabetes. We investigated if red meat consumption increases the risk of latent autoimmune diabetes in adults (LADA) and T2D, and potential interaction with family history of diabetes (FHD), HLA and TCF7L2 genotypes.

Methods

Analyses were based on Swedish case–control data comprising incident cases of LADA (n = 465) and T2D (n = 1528) with matched, population-based controls (n = 1789; n = 1553 in genetic analyses). Multivariable-adjusted ORs in relation to self-reported processed and unprocessed red meat intake were estimated by conditional logistic regression models. Attributable proportion (AP) due to interaction was used to assess departure from additivity of effects.

Results

Consumption of processed red meat was associated with increased risk of LADA (per one servings/day OR 1.27, 95% CI 1.07–1.52), whereas no association was observed for unprocessed red meat. For T2D, there was no association with red meat intake once BMI was taken into account. The combination of high (> 0.3 servings/day vs. less) processed red meat intake and high-risk HLA-DQB1 and -DRB1 genotypes yielded OR 8.05 (95% CI 4.86–13.34) for LADA, with indications of significant interaction (AP 0.53, 95% CI 0.32–0.73). Results were similar for the combination of FHD-T1D and processed red meat. No interaction between processed red meat intake and FHD-T2D or risk variants of TCF7L2 was seen in relation to LADA or T2D.

Conclusion

Consumption of processed but not unprocessed red meat may increase the risk of LADA, especially in individuals with FHD-T1D or high-risk HLA genotypes.
Cerebellar heterotopia of infancy in sudden infant death syndrome: an observational neuropathological study of four cases
Authors: Matschke Jakob , Sperhake Jan-Peter , Wilke Nadine , Püschel Klaus , Glatzel Markus
Published: May 2020

Sudden infant death syndrome (SIDS) is the sudden unexpected death of an infant < 1 year of age that remains unexplained after comprehensive workup including complete autopsy and investigation of the circumstances of death. The triple risk hypothesis posits that SIDS results as a combination of both intrinsic and extrinsic factors on the background of a predisposing vulnerability. Neuropathological examination in the past has focussed mainly on the brainstem as the major player in respiratory control, where subtle findings have been linked to the chain of events leading to death in SIDS. The cerebellum has received less attention, probably due to an assumed negligible role in central cardiorespiratory control. We report four cases of SIDS in which neuropathological investigation revealed cerebellar heterotopia of infancy, a distinct malformation of the cerebellum, and discuss the potential impact of this condition on the aetiology and pathogenesis of SIDS.
A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres
Authors: Gang Qiang , Bettencourt Conceição , Holton Janice , Lovejoy Christopher , Chelban Viorica , Oconnor Emer , Yuan Yun , Reilly Mary M. , Hanna Michael , Houlden Henry
Published: May 2020

Objective

To identify the genetic cause of complex neuropathy in two siblings from a consanguineous family.

Methods

The patients were recruited from our clinic. Muscle biopsy and whole-exome sequencing (WES) were performed. Fibroblasts cell lines from the index patient, unaffected parents, and three normal controls were used for cDNA analysis and western blot.

Results

The index patient was a 29-year-old male with clinical phenotype of syndactyly, pes cavus, swallowing difficulties, vision problem, imbalance, and muscle weakness. The sibling had similar, but milder symptoms. Nerve conduction studies and electromyography of both patients suggested sensory-motor axonal neuropathy. Muscle biopsy showed a feature of necklace fibres. WES identified a novel homozygous frameshift deletion (c.5477-5478del; p.1826-1826del) in exon 40 of the SBF1 gene in the two siblings, while both parents and the unaffected sibling were heterozygous carriers. Functional analysis showed a markedly reduced level of MTMR5 protein encoded by SBF1 in the index case. The levels of MTMR5 protein in unaffected parents were similar to those found in controls.

Conclusion

A novel homozygous frameshift deletion in SBF1 was identified in this family. Sensory-motor axonal neuropathy and necklace fibres in biopsy were the major features expanding the phenotypic spectrum of SBF1-related recessive syndromic neuropathy.
A review of seizures and epilepsy following traumatic brain injury
Authors: Fordington Surina , Manford Mark
Published: May 2020

Traumatic brain injury (TBI) is one of the commonest presentations to emergency departments and is associated with seizures carrying different significance at different stages following injury. We describe the epidemiology of early and late seizures following TBI, the significance of intracranial haemorrhage of different types in the risk of later epilepsy and the gaps in current understanding of risk factors contributing to the risk of post-traumatic epilepsy (PTE). The delay from injury to epilepsy presents an opportunity to understand the mechanisms underlying changes in the brain and how they may reveal potential targets for anti-epileptogenic therapy. We review existing treatments, both medical and surgical and conclude that current research is not tailored to differentiate between PTE and other forms of focal epilepsy. Finally, we review the increasing understanding of the frequency and significance of dissociative seizures following mild TBI.
Surface Electromyographic Biofeedback and the Effortful Swallow Exercise for Stroke-Related Dysphagia and in Healthy Ageing
Authors: Archer Sally K. , Smith Christina H. , Newham Di J.
Published: May 2020

Dysphagia is common after stroke, leading to adverse outcome. The Effortful Swallow (ES) is recommended to improve swallowing but it is not known if dysphagic patients can increase muscle activity during the exercise or if age affects performance. Providing surface electromyographic (sEMG) biofeedback during dysphagia therapy may enhance exercise completion, but this has not been investigated and the technique’s acceptability to patients is not known. Aims: To determine if age or post-stroke dysphagia affect the ability to increase submental muscle activity during the ES, if sEMG biofeedback improves ES performance and if sEMG is an acceptable addition to therapy. In a Phase I study submental sEMG amplitudes were measured from 15 people with dysphagia < 3 months post-stroke and 85 healthy participants aged 18–89 years during swallowing (NS) and when they performed the ES with and without sEMG biofeedback. Participant feedback was collected via questionnaire. Measurements were compared with repeated measures ANOVA and age effects were examined with linear regression. Both groups produced significantly greater muscle activity for the ES than NS (p < 0.001) and significantly increased activity with biofeedback (p < 0.001) with no effect of age. Participant feedback about sEMG was very positive; over 98% would be happy to use it regularly. The ES is a physiologically beneficial dysphagia exercise, increasing muscle activity during swallowing. sEMG biofeedback further enhances performance and is considered an acceptable technique by patients. These findings support the potential application of sEMG biofeedback and the ES in dysphagia therapy in stroke, justifying further investigation of patient outcome.
The relationship between monoaminergic gene expression, learning, and optimism in red junglefowl chicks
Authors: Boddington Robert , Gómez Dunlop Clara A. , Garnham Laura C. , Ryding Sara , Abbey-Lee Robin N. , Kreshchenko Anastasia , Løvlie Hanne
Published: May 2020

Intra-species cognitive variation is commonly observed, but explanations for why individuals within a species differ in cognition are still understudied and not yet clear. Cognitive processes are likely influenced by genetic differences, with genes in the monoaminergic systems predicted to be important. To explore the potential role of these genes in association with individual variation in cognition, we exposed red junglefowl (Gallus gallus) chicks to behavioural assays measuring variation in learning (discriminative learning, reversal learning, and cognitive flexibility) and optimism (measured in a cognitive judgement bias test). Following this, we analysed prefrontal cortex gene expression of several dopaminergic and serotonergic genes in these chicks. Of our explored genes, serotonin receptor genes 5HT2A and 5HT2B, and dopaminergic receptor gene DRD1 were associated with measured behaviour. Chicks that had higher 5HT2A were less flexible in the reversal learning task, and chicks with higher 5HT2B also tended to be less cognitively flexible. Additionally, chicks with higher DRD1 were more optimistic, whilst chicks with higher 5HT2A tended to be less optimistic. These results suggest that the serotonergic and dopaminergic systems are linked to observed cognitive variation, and, thus, individual differences in cognition can be partially explained by variation in brain gene expression.
Correction to: Non-specific phospholipase C (NPC): an emerging class of phospholipase C in plant growth and development
Authors: Nakamura Yuki , Ngo Anh H.
Published: May 2020

In the original publication of the article, values of “Genes” NPC6 was out of order in Table 1.
Exact distributional analysis of online algorithms with lookahead
Authors: Dunke Fabian , Nickel Stefan
Published: May 2020

In online optimization, input data is revealed sequentially. Optimization problems in practice often exhibit this type of information disclosure as opposed to standard offline optimization where all information is known in advance. We analyze the performance of algorithms for online optimization with lookahead using a holistic distributional approach. To this end, we first introduce the performance measurement method of counting distribution functions. Then, we derive analytical expressions for the counting distribution functions of the objective value and the performance ratio in elementary cases of the online bin packing and the online traveling salesman problem. For bin packing, we also establish a relation between algorithm processing and the Catalan numbers. The paper shows that an exact analysis is strongly interconnected to the combinatorial structure of the problem and algorithm under consideration. Results further indicate that the value of lookahead heavily relies on the problem itself. The analysis also shows that exact distributional analysis could be used in order to discover key effects and identify related root causes in relatively simple problem settings. These insights can then be transferred to the analysis of more complex settings where the introduced performance measurement approach has to be used on an approximative basis (e.g., in a simulation-based optimization).