bluuebunny/crossref_metadata_2025 huggingface dataset:
Perceived Stress and Fecundability: A Preconception Cohort Study of North American Couples
Authors: Wesselink Amelia K , Hatch Elizabeth E , Rothman Kenneth J , Weuve Jennifer L , Aschengrau Ann , Song Rebecca J , Wise Lauren A
Published: August 2018

While some epidemiologic studies support the hypothesis that stress can adversely affect fertility, few prospective studies have assessed the association in couples from the general population. We used data from Pregnancy Study Online, a web-based preconception cohort study of pregnancy planners from the United States and Canada (2013–2018), to examine the association between women’s and men’s perceived stress levels prior to conception and fecundability. Women (aged 21–45 years) and their male partners (aged ≥21 years) who were attempting conception without fertility treatment were eligible. We measured perceived stress using the 10-item Perceived Stress Scale (PSS). We ascertained pregnancy information using bimonthly follow-up questionnaires of female participants. We followed 4,769 couples until self-reported pregnancy, initiation of fertility treatment, loss to follow-up, or 12 menstrual cycles of attempt time, whichever came first. We used proportional probabilities regression models to estimate fecundability ratios and 95% confidence intervals, adjusting for potential confounders. Higher PSS scores among the women were associated with slight reductions in fecundability (comparing PSS scores of ≥25 vs. <10, fecundability ratio = 0.87, 95% confidence interval: 0.74, 1.02). PSS scores among the men were not substantially associated with fecundability.
Incorporating historical models with adaptive Bayesian updates
Authors: Boonstra Philip S , Barbaro Ryan P
Published: August 2018

This article considers Bayesian approaches for incorporating information from a historical model into a current analysis when the historical model includes only a subset of covariates currently of interest. The statistical challenge is 2-fold. First, the parameters in the nested historical model are not generally equal to their counterparts in the larger current model, neither in value nor interpretation. Second, because the historical information will not be equally informative for all parameters in the current analysis, additional regularization may be required beyond that provided by the historical information. We propose several novel extensions of the so-called power prior that adaptively combine a prior based upon the historical information with a variance-reducing prior that shrinks parameter values toward zero. The ideas are directly motivated by our work building mortality risk prediction models for pediatric patients receiving extracorporeal membrane oxygenation (ECMO). We have developed a model on a registry-based cohort of ECMO patients and now seek to expand this model with additional biometric measurements, not available in the registry, collected on a small auxiliary cohort. Our adaptive priors are able to use the information in the original model and identify novel mortality risk factors. We support this with a simulation study, which demonstrates the potential for efficiency gains in estimation under a variety of scenarios.
A Polygenic Score for Higher Educational Attainment is Associated with Larger Brains
Authors: Elliott Maxwell L , Belsky Daniel W , Anderson Kevin , Corcoran David L , Ge Tian , Knodt Annchen , Prinz Joseph A , Sugden Karen , Williams Benjamin , Ireland David , Poulton Richie , Caspi Avshalom , Holmes Avram , Moffitt Terrie , Hariri Ahmad R
Published: August 2018

People who score higher on intelligence tests tend to have larger brains. Twin studies suggest the same genetic factors influence both brain size and intelligence. This has led to the hypothesis that genetics influence intelligence partly by contributing to the development of larger brains. We tested this hypothesis using four large imaging genetics studies (combined N = 7965) with polygenic scores derived from a genome-wide association study (GWAS) of educational attainment, a correlate of intelligence. We conducted meta-analysis to test associations among participants’ genetics, total brain volume (i.e., brain size), and cognitive test performance. Consistent with previous findings, participants with higher polygenic scores achieved higher scores on cognitive tests, as did participants with larger brains. Participants with higher polygenic scores also had larger brains. We found some evidence that brain size partly mediated associations between participants’ education polygenic scores and their cognitive test performance. Effect sizes were larger in the population-based samples than in the convenience-based samples. Recruitment and retention of population-representative samples should be a priority for neuroscience research. Findings suggest promise for studies integrating GWAS discoveries with brain imaging to understand neurobiology linking genetics with cognitive performance.
Lower Pretreatment Gut Integrity Is Independently Associated With Fat Gain on Antiretroviral Therapy
Authors: El Kamari Vanessa , Moser Carlee , Hileman Corrilynn O , Currier Judith S , Brown Todd T , Johnston Liz , Hunt Peter W , McComsey Grace A
Published: August 2018

Background

Fat accumulation and insulin resistance remain a threat to the success of antiretroviral therapy (ART). The role of gut dysfunction in metabolic complications associated with ART initiation is unclear.

Methods

Human immunodeficiency virus (HIV)-infected ART-naive participants were randomized to tenofovir disoproxil fumarate/emtricitabine plus atazanavir/ritonavir, darunavir/ritonavir, or raltegravir (RAL). Changes in the gut integrity markers zonulin, lipopolysaccharide-binding protein (LBP), and intestinal fatty acid and ileal bile acid binding proteins (I-FABP and I-BABP) were assessed over 96 weeks. Wilcoxon rank-sum tests were used to compare changes between groups and linear regression models to quantify associations between gut markers, insulin resistance, body mass index (BMI), and visceral, subcutaneous, and total adipose tissue (VAT, SAT, and TAT).

Results

: 90% were male and 48% were White non-Hispanic. The median age was 36 years, HIV-1 ribonucleic acid was 4.56 log10 copies/mL, and CD4 count was 338 cells/µL. An overall 1.7-fold increase in I-FABP was observed throughout 96 weeks, with no difference between arms. Zonulin levels increased with RAL compared to protease inhibitor–based regimens (week 96, P = .02); minimal changes in I-BABP or LBP levels were observed. Higher baseline I-FABP levels were associated with increases in VAT, TAT, and BMI (16%, 9%, and 2.5%, respectively; P < .04) over 96 weeks.

Conclusions

While ART induces changes in the markers of gut barrier dysfunction, the extent to which they improve or worsen the gut barrier function remains unclear. Nevertheless, markers of gut barrier dysfunction in ART-naive individuals predict increases in total and visceral abdominal fat with treatment initiation.
Coupling strategies in multiparameter geophysical joint inversion
Authors: Colombo Daniele , Rovetta Diego
Published: August 2018

A big potential lies in the quantitative integration of multiple geophysical measurements for what concerns more unique and robust inversion results, complementary sensitivity to geological features and enhanced resolution. The mechanisms that enable such integration typically rely on statistics where the multiphysics parameter values are related to each other through regression functions (rock physics) or through the shape of the parameter spatial distributions (structure). Such coupling operators are jointly minimized with the data misfit to obtain coupled parameter distributions. We explore the application of various coupling mechanisms to synthetic and real data comprising seismic and electromagnetic measurements acquired in complex geological conditions such as salt geology and complex near surface in desert environment. Two types of structure operators, consisting of the standard cross-gradient and a newly introduced summative gradient, together with rock-physics operators are tested and combined for velocity model reconstruction of salt overburden in a marine environment and in a complex near surface case. Results of seismic-EM joint minimization suggest that the summative gradient operator with the introduction of the sign of the gradient correlation provides a strong coupling mechanism that can become advantageous in the presence of noise-affected seismic data. The rock-physics coupling mechanism is extremely strong and its effectiveness depends primarily on the reliability of the rock-physics relation. A Bayesian approach for the rock-physics operator is introduced to balance the related uncertainties and it is successfully tested in a joint minimization scheme. The combined use of rock-physics and structure coupling operators provides the best results in synthetic and real data applications. The use and combination of various regularization operators, as described, provide a formidable toolbox for solving a wide variety of ill-posed and non-unique geophysical inverse problems.
Osteoarthritis and risk of mortality in the USA: a population-based cohort study
Authors: Mendy Angelico , Park JuYoung , Vieira Edgar Ramos
Published: August 2018

Background

Osteoarthritis (OA) is the most common joint disease, but its association with mortality is unclear.

Methods

We analysed data on adult participants in the 1988–94 and 1999–2010 National Health and Nutrition Examination Surveys, followed for mortality through 2011. OA was defined by self-report, and in a subset of participants 60 years or older with knee X-rays, radiographic knee OA (RKOA) was defined as Kellgren–Lawrence score ≥2. Cox proportional hazards were used to determine the mortality hazard ratio (HR) associated with self-reported OA and RKOA, adjusting for covariates.

Results

The sample included 51 938 participants followed for a median 8.9 years; 2589 of them had knee X-rays and were followed for a median of 13.6 years. Self-reported OA and RKOA prevalences were 6.6% and 40.6%, respectively. Self-reported OA was not associated with mortality. RKOA was associated with an increased risk of mortality from cardiovascular diseases (CVD) {HR 1.43 [95% confidence interval (CI): 1.32, 1.64]}, diabetes [HR 2.04 (1.87, 2.23)] and renal diseases [HR 1.14 (1.04, 1.25)], but with a reduced risk of cancer mortality [HR 0.88 (0.80, 0.96)]. Participants with early RKOA onset (diagnosed before age 40) had a higher risk of mortality from all causes [HR 1.53 (1.43, 1.65)] and from diabetes [HR 7.18 (5.45, 9.45)]. Obese participants with RKOA were at increased risk of mortality from CVD [HR 1.89 (1.56, 2.29)] and from diabetes [HR: 3.42 (3.01, 3.88)].

Conclusions

Self-reported OA was not associated with mortality. RKOA was associated with higher CVD, diabetes and renal mortality, especially in people with early onset of the disease or with obesity.
Intracranial Pressure Trajectories: A Novel Approach to Informing Severe Traumatic Brain Injury Phenotypes*
Authors: Jha Ruchira M. , Elmer Jonathan , Zusman Benjamin E. , Desai Shashvat , Puccio Ava M. , Okonkwo David O. , Park Seo Young , Shutter Lori A. , Wallisch Jessica S. , Conley Yvette P. , Kochanek Patrick M.
Published: August 2018

Objectives:

Intracranial pressure in traumatic brain injury is dynamic and influenced by factors like injury patterns, treatments, and genetics. Existing studies use time invariant summary intracranial pressure measures thus potentially losing critical information about temporal trends. We identified longitudinal intracranial pressure trajectories in severe traumatic brain injury and evaluated whether they predicted outcome. We further interrogated the model to explore whetherABCC8polymorphisms (a known cerebraledema regulator) differed across trajectory groups.

Design:

Prospective observational cohort.

Setting:

Single-center academic medical center.

Patients:

Four-hundred four severe traumatic brain injury patients.

Interventions:

None.

Measurements and Main Results:

We used group-based trajectory modeling to identify hourly intracranial pressure trajectories in days 0–5 post traumatic brain injury incorporating risk factor adjustment (age, sex, Glasgow Coma Scale 6score, craniectomy, primary hemorrhage pattern). We compared 6-month outcomes (Glasgow Outcome Scale, Disability Rating Scale, mortality) andABCC8tag-single-nucleotide polymorphisms associated with cerebral edema (rs2237982, rs7105832) across groups. Regression models determined whether trajectory groups predicted outcome. A six trajectory group model best fit the data, identifying cohorts differing in initial intracranial pressure, evolution, and number/proportion of spikes greater than 20 mm Hg. There were pattern differences in age, hemorrhage type, and craniectomy rates.ABCC8polymorphisms differed across groups. GOS (p= 0.006), Disability Rating Scale (p= 0.001), mortality (p< 0.0001), and rs2237982 (p= 0.035) differed across groups. Unfavorable outcomes were surprisingly predicted by both low intracranial pressure trajectories and sustained intracranial hypertension. Intracranial pressure variability differed across groups (p< 0.001) and may reflect preserved/impaired intracranial elastance/compliance.

Conclusions:

We employed a novel approach investigating longitudinal/dynamic intracranial pressure patterns in traumatic brain injury. In a risk adjusted model, six groups were identified and predicted outcomes. If validated, trajectory modeling may be a first step toward developing a new, granular approach for intracranial pressure phenotyping in conjunction with other phenotyping tools like biomarkers and neuroimaging. This may be particularly relevant in light of changing traumatic brain injury demographics toward the elderly.
Collection of Bilateral Cleft Lip and Palate Standard Set Variables: Establishing a Baseline
Authors: Citron Isabelle , Ganske Ingrid , Massenburg Benjamin B. , Doyle Michael , Meara John G. , Rogers-Vizena Carolyn R.
Published: August 2018

Background:

The International Consortium for Healthcare Outcomes Measurement recently published a consensus Standard Set of clinical and patient-centered metrics to measure outcomes for patients with cleft lip and/or palate (CLP). This study aims to evaluate how the Standard Set compares to existing data collected to anticipate the impact that the Standard Set may have on quality and quantity of outcome data.

Methods:

Extraction of the Standard Set data points was attempted retrospectively for all nonsyndromic patients with bilateral cleft lip and/or palate who underwent primary lip and/or palate repair by a single surgeon (JGM) between June 2007 and June 2014.

Results:

Bilateral cleft lip repair was performed on 32 patients of which 29 also underwent palate repair. All but one of the baseline demographic and phenotypic variables were available. All perioperative variables were collected, but data quality was heterogeneous. There were no early complications. At 5 years, 29.6% of patients were lost to follow-up; however, a degree of data was available on 11 of the 12 clinical metrics for those remaining. Of patients with Veau IV cleft palate and follow-up at age 5, 1 patient (6.7%) had an oronasal fistula and 1 had velopharyngeal incompetence requiring Furlow palatoplasty (6.7%). No patient-reported data were collected for any time point.

Conclusion:

Prospective collection of the International Consortium for Healthcare Outcomes Measurement Standard Set will improve consistency of clinical data and add the patient perspective currently lacking in outcome measures collected for patients with bilateral cleft.
Donor-Site Morbidity and Functional Status following Medial Femoral Condyle Flap Harvest
Authors: Mehio Ghassan , Morsy Mohamed , Cayci Cenk , Sabbagh M. Diya , Shin Alexander Y. , Bishop Allen T. , Moran Steven L. , Carlsen Brian T.
Published: August 2018

Background:

The medial femoral condyle free vascularized bone flap is a valuable alternative to other types of vascularized bone grafts. The donor-site morbidity and functional outcomes after flap harvest have not been fully appreciated. The authors report the postoperative outcomes and analyze the impact of increasing the size of the flap on knee donor-site morbidity.

Methods:

A retrospective chart review of patients who underwent medial femoral condyle flap surgery between 2001 and 2012 at their institution was performed. The size of the flap was stratified, based on the largest dimension, into three groups. Demographics, outcomes, and complications related to the flap donor site were recorded and analyzed. Subsequently, functional status was assessed by administering a validated condition-specific measure. A univariate logistic regression analysis was performed, and results were analyzed.

Results:

A total of 75 patients were identified. Average age was 29.5 ± 15.2 years. Average follow-up time was 13 months. The overall complication rate was 18.6 percent. Paresthesia in the saphenous nerve distribution was the most common complication. Increasing the size of the flap resulted in a significant elevation in complication risk (p < 0.05). A total of 47 patients completed the Lower Extremity Functional Scale questionnaire. The average Lower Extremity Functional Scale score was 72.12 ± 14.18. Fifty-one percent (n = 24) scored 80 points, indicating a normal level of function on average.

Conclusions:

The medial femoral condyle flap has overall acceptable donor-site morbidity, with a good level of function postoperatively. Larger flaps are associated with a greater number of complications.

CLINICAL QUESTION/LEVEL OF EVIDENCE:

Therapeutic, III.
Feed-forward regulation adaptively evolves via dynamics rather than topology when there is intrinsic noise
Authors: Xiong Kun , Lancaster Alex K. , Siegal Mark L. , Masel Joanna
Published: August 2018

We develop a null model of the evolution of transcriptional regulatory networks, and use it to support an adaptive origin for a canonical “motif”, a 3-node feed-forward loop (FFL) hypothesized to filter out short spurious signals by integrating information from a fast and a slow pathway. Our mutational model captures the intrinsically high prevalence of weak affinity transcription factor binding sites. We also capture stochasticity and delays in gene expression that distort external signals and intrinsically generate noise. Functional FFLs evolve readily under selection for the hypothesized function, but not in negative controls. Interestingly, a 4-node “diamond” motif also emerged as a short spurious signal filter. The diamond uses expression dynamics rather than path length to provide fast and slow pathways. When there is no external spurious signal to filter out, but only internally generated noise, only the diamond and not the FFL evolves.
Task complexity interacts with state-space uncertainty in the arbitration process between model-based and model-free reinforcement-learning at both behavioral and neural levels
Authors: Kim Dongjae , Park Geon Yeong , O’Doherty John P. , Lee Sang Wan
Published: August 2018

A major open question concerns how the brain governs the allocation of control between two distinct strategies for learning from reinforcement: model-based and model-free reinforcement learning. While there is evidence to suggest that the reliability of the predictions of the two systems is a key variable responsible for the arbitration process, another key variable has remained relatively unexplored: the role of task complexity. By using a combination of novel task design, computational modeling, and model-based fMRI analysis, we examined the role of task complexity alongside state-space uncertainty in the arbitration process between model-based and model-free RL. We found evidence to suggest that task complexity plays a role in influencing the arbitration process alongside state-space uncertainty. Participants tended to increase model-based RL control in response to increasing task complexity. However, they resorted to model-free RL when both uncertainty and task complexity were high, suggesting that these two variables interact during the arbitration process. Computational fMRI revealed that task complexity interacts with neural representations of the reliability of the two systems in the inferior prefrontal cortex bilaterally. These findings provide insight into how the inferior prefrontal cortex negotiates the trade-off between model-based and model-free RL in the presence of uncertainty and complexity, and more generally, illustrates how the brain resolves uncertainty and complexity in dynamically changing environments.

SUMMARY OF FINDINGS

- Elucidated the role of state-space uncertainty and complexity in model-based and model-free RL.

- Found behavioral and neural evidence for complexity-sensitive prefrontal arbitration.

- High task complexity induces explorative model-based RL.
Association ofPrevotellaenterotype with polysomnographic data in obstructive sleep apnea/hypopnea syndrome patients
Authors: Ko Chih-Yuan , Fan Ji-Mim , Hu An-Ke , Huang Li-Mei , Su Huan-Zhang , Yang Jiao-Hong , Zhang Hua-Ping , Zeng Yi-Ming
Published: August 2018

Intermittent hypoxia and sleep fragmentation are critical pathophysiological processes involved in obstructive sleep apnea/hypopnea syndrome (OSAHS). These manifestation independently affect similar brain regions and contribute to OSAHS-related comorbidities that are known to be related to the host gut alteration microbiota. We hypothesized that microbiota disruption influences the pathophysiological processes of OSAHS through a microbiota–gut–brain axis. Thus, we aim to survey enterotypes and polysomnographic data of OSAHS patients. Subjects were diagnosed by polysomnography, from whom fecal samples were obtained and analyzed for the microbiome composition by variable regions 3–4 of 16S rRNA pyrosequencing and bioinformatic analyses. We examined blood cytokines level of all subjects. Three enterotypesBacteroides(n=73),Ruminococcus(n=14), andPrevotella(n=26) were identified. Central apnea indices, mixed apnea indices, N1 sleep stage, mean apnea–hypopnea duration, and arousal indices were increased in apnea–hypopnea indices (AHI) ≥15 patients with thePrevotellaenterotype. However, for AHI<15 subjects, obstructive apnea indices and systolic blood pressure were significantly observed inRuminococcusandPrevotellaenterotypes, respectively. The present study indicates the possibility of pathophysiological interplay between enterotypes and sleep structure disruption in sleep apnea through a microbiota–gut–brain axis and offers some new insight toward the pathogenesis of OSAHS.

Importance

Intermittent hypoxia (IH) and sleep fragmentation (SF) are hallmarks of are the predominant mechanism underlying obstructive sleep apnea/hypopnea syndrome (OSAHS). Moreover, IH and SF of pathophysiological roles in the gut microbiota dysbiosis in OSAHS have been demonstrated. We hypothesized that gut microbiota disruption may cross-talk the brain function via microbiota–gut–brain axis. Indeed, we observed central apnea indices and other parameters of disturbances during sleep were significantly elevated in AHI≥15 patients with thePrevotellaenterotype. This enterotype prone to endotoxin production, driving systemic inflammation, ultimately contributes to OSAHS-linked comorbidities. Vice versa, increasing the arousal index leads to systemic inflammatory changes and accompanies metabolic dysfunction. We highlight that the possibility that the microbiota–gut–brain axis operates a bidirectional effect on the development of OSAHS pathology.
Germ-free mice exhibit mast cells with impaired functionality and gut homing and do not develop food allergy
Authors: Schwarzer Martin , Hermanova Petra , Srutkova Dagmar , Golias Jaroslav , Hudcovic Tomas , Sinkora Marek , Akgün Johnnie , Zwicker Christian , Wiedermann Ursula , Tuckova Ludmila , Kozakova Hana , Schabussova Irma
Published: August 2018

Background

Mucosal mast cells (MC) are key players in IgE-mediated food allergy (FA). The evidence on the interaction between gut microbiota, MC and susceptibility to FA is contradictory.

Objective

We tested the hypothesis that commensal bacteria are essential for MC migration to the gut and their maturation impacting the susceptibility to FA.

Methods

The development and severity of FA symptoms was studied in sensitized germ-free (GF), conventional (CV) and mice mono-colonized with L. plantarum WCFS1 or co-housed with CV mice. MC were phenotypically and functionally characterized.

Results

Systemic sensitization and oral challenge of GF mice with ovalbumin led to increased levels of specific IgE in serum compared to CV mice. Remarkably, despite the high levels of sensitization, GF mice did not develop diarrhea or anaphylactic hypothermia, common symptoms of FA. In the gut, GF mice expressed low levels of the MC tissue-homing markers CXCL1 and CXCL2 and harbored fewer MC which exhibited lower levels of MC protease-1 after challenge. Additionally, MC in GF mice were less mature as confirmed by flow-cytometry and reduced edema formation after injection of degranulation-provoking compound 48/80. Co-housing of GF mice with CV mice fully restored their susceptibility to develop FA. However, this did not occur when GF mice were mono-colonized with L. plantarum.

Conclusion

Our results demonstrate that microbiota-induced maturation and gut-homing of MC is a critical step for the development of symptoms of experimental FA. This new mechanistic insight into microbiota-MC-FA axis can be exploited in the prevention and treatment of FA in humans.
Clonal analysis by tunable CRISPR-mediated excision
Authors: Gilles Anna F. , Schinko Johannes B. , Schacht Magdalena I. , Enjolras Camille , Averof Michalis
Published: August 2018

Clonal marking techniques based on the Cre/lox and Flp/FRT systems are widely used in multicellular model organisms to mark individual cells and their progeny, in order to study their morphology, growth properties and developmental fates. The same tools can be adapted to introduce specific genetic changes in a subset of cells within the body, i.e. to perform mosaic genetic analysis. Marking and manipulating distinct cell clones requires control over the frequency of clone induction, which is sometimes difficult to achieve. Here we present Valcyrie, a new method that replaces the conventional Cre or Flp recombinase-mediated excision of a marker cassette by CRISPR-mediated excision. A major advantage of this approach is that CRISPR efficiency can be tuned in a predictable fashion by manipulating the degree of sequence complementarity between the CRISPR guide RNA and its targets. We establish the method in the beetleTribolium castaneum. We demonstrate that clone marking frequency can be tuned to generate embryos carrying single marked clones. The Valcyrie approach can be applied to a wide range of experimental settings, for example to modulate clone frequency with existing tools in established model organisms and to introduce clonal analysis in emerging experimental models.
Density-dependent changes in neophobia and stress-coping styles in the world’s oldest farmed fish
Authors: Champneys T. , Castaldo G. , Consuegra S. , Leaniz Garcia de
Published: August 2018

Farmed fish are typically reared at densities much higher than those observed in the wild, but to what extent crowding results in abnormal behaviours that can impact welfare and stress coping styles is subject to debate. Neophobia (i.e. fear of the ‘new’) is thought to be adaptive under natural conditions by limiting risks, but it is potentially maladapted in captivity, where there are no predators or novel foods. We reared juvenile Nile tilapia (Oreochromis niloticus) for six weeks at either high (50g/L) or low density (14g/L), assessed the extent of skin and eye darkening (two proxies of chronic stress), and exposed them to a novel object in an open-test arena, with and without cover, to assess the effects of density on neophobia and stress coping styles. Fish reared at high density were darker, more neophobic, less aggressive, less mobile and less likely to take risks than those reared at low density, and these effects were exacerbated when no cover was available. Thus, the reactive coping style shown by fish at high density was very different from the proactive coping style shown by fish at low density. Our findings provide novel insights into the plasticity of fish behaviour and the effects of aquaculture intensification on one of the world’s oldest farmed and most invasive fish, and highlight the importance of considering context. Crowding could have a positive effect on the welfare of tilapia by reducing aggressive behaviour, but it can also make fish chronically stressed and more fearful, which could make them less invasive.
Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
Authors: Keskitalo Salla , Haapaniemi Emma , Einarsdottir Elisabet , Rajamäki Kristiina , Heikkilä Hannele , Ilander Mette , Pöyhönen Minna , Morgunova Ekaterina , Hokynar Kati , Lagström Sonja , Kivirikko Sirpa , Mustjoki Satu , Eklund Kari , Saarela Janna , Kere Juha , Seppänen Mikko , Ranki Annamari , Hannula-Jouppi Katariina , Varjosalo Markku
Published: August 2018

TMEM173 encodes for STING that is a transmembrane protein activated by pathogen or self-derived cytosolic nucleic acids causing its translocation from ER to Golgi, and further to vesicles. Monogenic STING gain-of-function mutations cause early-onset type I interferonopathy, with disease presentation ranging from fatal vasculopathy to mild chilblain lupus. Molecular mechanisms causing the poor phenotypegenotype correlation are presently unclear. Here we report a novel gain-of-function G207E STING mutation causing a distinct phenotype with alopecia, photosensitivity, thyroid dysfunction, and STING-associated vasculopathy with onset in infancy (SAVI) -features; livedo reticularis, nasal septum perforation, facial erythema, bacterial infections and skin vasculitis. Single residue polymorphisms in TMEM173 and an IFIH1 T946 risk allele modify disease presentation in the affected multigeneration family, explaining the varying clinical phenotypes. The G207E mutation causes constitutive activation of inflammation-related pathways in HEK cells, as well as aberrant interferon signature and inflammasome activation in patient PBMCs. Protein-protein interactions further propose impaired cellular trafficking of G207E mutant STING. These findings reveal the molecular landscape of STING and highlight the complex additive effects on the phenotype.

BRIEF SUMMARY

Novel gain-of-function mutation in TMEM173, associated with single residue polymorphisms in TMEM173 and IFIH1, causes a distinct clinical phenotype with some shared features of SAVI.
Status of urban feral cats Felis catus in England: A comparative study
Authors: Askew Nicholas P. , Vial Flavie , Smith Graham C.
Published: August 2018

This study sought to determine whether a change in the abundance of feral cats (Felis catus) in three areas of England had occurred between the completion of a survey undertaken by the Ministry for Agriculture Fisheries and Food in 1986/7 and the turn of the century. In the event of a rabies outbreak occurring in Britain, feral cats would be one vector of the disease that would need to be controlled under the Rabies (control) Order 1974. A total of 741 “high risk sites”, found to provide appropriate conditions for feral cats, were surveyed between 1999 and 2000. The total number of feral cat colonies located within the survey areas was found to have fallen by 37% from 68 in 1986 to 43 in 1999/2000, translating to an estimated 212-247 fewer individual feral cats. Factories/trading estates and industrial premises continued to be the most common sites associated with urban feral cat colonies. However, the closing down of many traditional industries, such as mills and dockyards, and their replacement by more secure and insulated modern buildings, less amenable to feral cats finding warmth and food, had assisted the observed fall in numbers along with the effectiveness of neutering programs which are now taking place on many sites. Through this study information regarding feral cat colonies’ in urban landscapes as well colony size was gathered and fed into rabies contingency plans to help keep Britain rabies free into the future.
Genome-Wide Reconstitution of Chromatin Transactions: RSC Preferentially disrupts H2A.Z-Containing Nucleosomes
Authors: Cakiroglu Aylin , Clapier Cedric R. , Ehrensberger Andreas H. , Darbo Elodie , Cairns Bradley R. , Luscombe Nicholas M. , Svejstrup Jesper Q.
Published: August 2018

Chromatin transactions are typically studied in vivo, or in vitro using artificial chromatin lacking the epigenetic complexity of the natural material. Attempting to bridge the gap between these approaches, we established a system for isolating the yeast genome as a library of mono-nucleosomes harboring the natural epigenetic signature, suitable for biochemical manipulation. Combined with deep sequencing, this library was used to investigate the intrinsic stability of individual nucleosomes, and – as proof of principle - the nucleosome preference of the chromatin remodeling complex, RSC. Our data indicate that the natural stability of nucleosomes differs greatly, with nucleosomes on tRNA genes and on promoters of protein-coding genes standing out as intrinsically unstable. Interestingly, RSC shows a distinct preference for nucleosomes derived from regions with a high density of histone variant H2A.Z, and this preference is indeed markedly diminished using nucleosomes from cells lacking H2A.Z. Importantly, the preference for H2A.Z remodeling/nucleosome ejection can also be reconstituted with recombinant nucleosome arrays. Together, our data indicate that, despite being separated from their genomic context, individual nucleosomes can retain their original identity as promoter- or TSS-nucleosomes. Besides shedding new light on nucleosome stability and the chromatin remodeler RSC, the simple experimental system outlined here should be generally applicable to the study of chromatin transactions.
Application of field modeling and determination of parameters in electrical engineering education
Authors: Iatcheva Ilona
Published: August 2018

Purpose

This paper aims to present application of electromagnetic field (EMF) modeling in the educational process of electrical engineering study. Special attention has been paid to determination of specific parameters and characteristics as a function of device design. The aim is to introduce to the students the great opportunities for study and optimization of system behavior, based on the modeling of EMF distribution.

Design/methodology/approach

Illustrative examples have been considered, in which the students have to model the EMF distribution in relatively simple devices, using both analytical field determination and finite element method (FEM) analysis. The task includes also the determination of capacitances, inductances, magnetic fluxes, energies and forces. The problem has to be solved for different values of geometry parameters and material properties of the device. Thus, students can examine specific relation between field distribution and changes of the design.

Findings

The modeling of EMF distribution for different geometry and material properties allows determination of key factors, significantly influencing the behavior and processes in the studied device, which is the basic element in the computer-aided design systems and it can be used in subsequent system optimization.

Practical implications

The wide possibilities and advantages of the FEM simulations have been demonstrated in the modeling of EMF distribution and obtaining of device parameters. It enables students to significantly improve their knowledge in EMF theory and helps the future engineers to estimate the great advantages and possibilities for optimal device designing, which offer them the numerical simulation of electromagnetic processes.

Originality/value

This work illustrates possibilities, advantages and many years of author’s experience in application of EMF modeling in the teaching process in the study of electrical engineering specialties. The work problems presented have been solved analytically and on the basis of computer FEM simulations, which allows comparison of the opportunities and necessary efforts, offered by both kinds of methods.
Comparative study and simulation of tumor cell inactivation by microwave and conventional heating
Authors: Rosin Andreas , Hader Michael , Drescher Corinna , Suntinger Magdalena , Gerdes Thorsten , Willert-Porada Monika , Gaipl Udo S. , Frey Benjamin
Published: August 2018

Purpose

This paper aims to investigate in a self-designed closed loop reactor process conditions for thermal inactivation of B16 melanoma cells by microwave and conventional heating.

Design/methodology/approach

Besides control experiments (37°C), inactivation rate was determined in the range from 42°C to 46°C. Heating was achieved either by microwave radiation at 2.45 GHz or by warm water. To distinguish viable from dead cells, AnnexinV staining method was used and supported by field effect scanning electron microscopy (FE-SEM) imaging. Furthermore, numerical simulations were done to get a closer look into both heating devices. To investigate the thermal influence on cell inactivation and the differences between heating methods, a reaction kinetics approach was added as well.

Findings

Control experiments and heating at 42°C resulted in low inactivation rates. Inactivation rate at 44°C remained below 12% under conventional, whereas it increased to >70% under microwave heating. At 46°C, inactivation rate attained 68% under conventional heating; meanwhile, even 88% were determined under microwave heating. FE-SEM images showed a porous membrane structure under microwave heating in contrast to mostly intact conventional heated cells. Numerical simulations of both heating devices and a macroscopic Arrhenius approach could not sufficiently explain the observed differences in inactivation.

Originality/value

A combination of thermal and electrical effects owing to microwave heating results in higher inactivation rates than conventional heating achieves. Nevertheless, it was not possible to determine the exact mechanisms of inactivation under microwave radiation.
Implications of product centric servitization for global distribution channels of manufacturing companies
Authors: Aminoff Anna , Hakanen Taru
Published: August 2018

Purpose

The ability to operate global distribution channels of products is commonly considered a critical determinant of a manufacturer’s competitiveness. Nowadays, many products are often complemented with value-added services challenging the efficacy of the status quo of distribution channels. Investigating this rather new phenomenon, the purpose of this paper is to provide an initial understanding of the implications of servitization for manufacturers’ global business-to-business (B2B) distribution.

Design/methodology/approach

The aim is to elaborate service-dominant logic (SDL) in the context of global B2B distribution. The study builds on case study data collected from a medium-sized European manufacturing company offering production equipment and solutions, and three of its global distributors.

Findings

The results indicate that the co-producing customer value, the increasing role of operant resources of both a distributor and a manufacturer, and triadic co-creation between a manufacturer, a distributor and an end customer have increasing importance in the indirect distribution network.

Research limitations/implications

Data are limited to data collected from a single in-depth case study. The results of this study should be investigated by collecting more data in a broader context in the form of surveys.

Practical implications

Several guidelines related to global distribution are developed for managers, and current distributor selection criteria are completed to meet the needs of this servitization approach.

Originality/value

Empirical research on servitizing manufacturers with global B2B distribution is scarce. This paper employs SDL to provide an in-depth understanding of the implications of servitization for distribution.
Consumer acceptance of sports wearable technology: the role of technology readiness
Authors: Kim Taejung , Chiu Weisheng
Published: August 2018

Purpose

The purpose of this paper is to investigate consumers’ acceptance and use of sports and fitness wearable devices based on technology readiness (TR). In addition, the technology readiness and acceptance model (TRAM) will be used to investigate consumers’ intention to use sports wearable devices (for simplicity, sports wearable devices will be simplified to the term “sports wearables”).

Design/methodology/approach

Convenience sampling was conducted from Korean consumers (n=247). Data were analyzed by partial least squares–structural equation modeling using SmartPLS 3.0.

Findings

The results found that positive TR has a positive influence on perceived ease of use (PEOU) and perceived usefulness (PU), and negative TR had a negative influence on PEOU and PU. PEOU had a positive influence on perceived usefulness (PU). Both PEOU and PU led to intention to use sports wearable devices. Also, the multi-group analysis found a positive correlation between TR and PEOU for especially male users.

Originality/value

The findings of this study provide a better understanding of consumers’ behavioral intent to use sports wearables. Particularly, it also provides evidence that the TRAM is an appropriate framework for predicting users’ intention to use sports wearables. This study also stresses the important role of TR in consumers’ psychological processes leading up to the actual use of novel sports wearables.
Improving wear resistance of aluminum by hydrophobic sol-gel-derived TiO2 film
Authors: Zhao Hongjin , Cao Lei , Wan Yong , Yang Shuyan , Gao Jianguo , Pu Jibin
Published: August 2018

Purpose

The purpose of this paper is to increase wear resistance of aluminum.

Design/methodology/approach

The authors have studied the ways to improve the tribological performance of aluminum by assembling stearic acid on aluminum coated by sol-gel-derived TiO2 film. The samples were characterized by infrared spectroscopy, contact angle measurements and a macro friction and wear tester.

Findings

Enhanced wear resistance was clearly obtained after functionalization of TiO2 film on aluminum by stearic acid.

Originality/value

The relevant results might be helpful for guiding the surface modification of aluminum devices in industrial applications.
The Rutgers open access policy goes into effect
Authors: Otto Jane Johnson , Mullen Laura Bowering
Published: August 2018

Purpose

From laying the groundwork for the successful passage of a university-wide open access (OA) policy, through the development and planning that goes into a successful implementation, to “Day One” when the official university policy goes into effect, there is a long list of factors that affect faculty interest, participation and compliance. The paper aims to discuss this issue.

Design/methodology/approach

The authors, Mullen and Otto, having detailed earlier aspects of the Rutgers University OA policy passage and implementation planning, analyze and share the specifics that followed the rollout of the policy and that continue to affect participation.

Findings

This case study presents some strategies and systems used to enhance author self-archiving in the newly minted Scholarly Open Access at Rutgers (SOAR) portal of the Rutgers institutional repository, including involvement of departmental liaison librarians, effective presentation of metrics and a focus on targeted communication with faculty.

Originality/value

Roadblocks encountered as faculty began to deposit their scholarship and lessons learned are a focus. Early reaction from faculty and graduate students (doctoral students and postdocs) to various aspects of the policy as well as the use of SOAR for depositing their work are included.
Radiation and heat source effects on MHD flow over a permeable stretching sheet through porous stratum with chemical reaction
Authors: Suneetha K. , Ibrahim S.M. , Reddy G.V. Ramana
Published: August 2018

Purpose

The purpose of this paper is to investigate the steady 2D buoyancy effects on MHD flow over a permeable stretching sheet through porous medium in the presence of suction/injection.

Design/methodology/approach

Similarity transformations are employed to transform the governing partial differential equations into ordinary differential equations. The transformed equations are then solved numerically by a shooting technique.

Findings

The working fluid is examined for several sundry parameters graphically and in tabular form. It is observed that with an increase in magnetic field and permeability of porous parameter, velocity profile decreases while temperature and concentration enhances. Stretching sheet parameter reduces velocity, temperature and concentration, whereas it increases skin friction factor, Nusselt number and Sherwood number.

Originality/value

Till now no numerical studies are reported on the effects of heat source and thermal radiation on MHD flow over a permeable stretching sheet embedded in porous medium in the presence of chemical reaction.
Green corrosion protection for mild steel in acidic media: saponins and crude extracts ofGongronema latifolium
Authors: Ikeuba Alexander I. , Okafor Peter C.
Published: August 2018

Purpose

This paper aims to appraise the inhibitory effect of saponins extracted fromGongronema latifolium(SEGL) on mild steel in acid media. This is in a bid to conserve our environment and maintain the integrity of engineering structures and materials.

Design/methodology/approach

The corrosion inhibition of SEGL and ethanolic extracts of the leaves ofG. latifolium(EEGL) on mild steel was studied by hydrogen evolution technique within a temperature range of 30-60°C in tetraoxosulphate (VI) acid solutions.

Findings

The extracts inhibit the corrosion of mild steel, and the inhibition efficiency depends on the concentration of the plant extract, temperature and the period of immersion. SEGL was comparatively more efficient than EEGL. Optimum values of the inhibition efficiency for both the EEGL and SEGL (93.7 and 96.5 per cent, respectively) were obtained at extract concentration of 10 g/L, whereas the least values were obtained at extract concentration of 0.5 g/L.

Originality/value

This paper provides new information on the possible application of isolated SEGL as an environmentally friendly corrosion inhibitor. The possible mechanism of the inhibitive action is also given.
Transcriptomic and proteomic responses of the oceanic diatomPseudo‐nitzschia graniito iron limitation
Authors: Cohen Natalie R , Gong Weida , Moran Dawn M. , McIlvin Matthew R. , Saito Mak A. , Marchetti Adrian
Published: August 2018

Diatoms are a highly successful group of photosynthetic protists that often thrive under adverse environmental conditions. Members of the genusPseudo‐nitzschiaare ecologically important diatoms which are able to subsist during periods of chronic iron limitation and form dense blooms following iron fertilization events. The cellular strategies within diatoms that orchestrate these physiological responses to variable iron concentrations remain largely uncharacterized. Using a combined transcriptomic and proteomic approach, we explore the exceptional ability of a diatom isolated from the iron‐limited Northeast Pacific Ocean to reorganize its intracellular processes as a function of iron. We compared the molecular responses ofPseudo‐nitzschia graniiobserved under iron‐replete and iron‐limited growth conditions to those of other model diatoms. Iron‐coordinated molecular responses demonstrated some agreement between gene expression and protein abundance, including iron‐starvation‐induced‐proteins, a putative iron transport system and components of photosynthesis and the Calvin cycle.Pseudo‐nitzschiagraniidistinctly differentially expresses genes encoding proteins involved in iron‐independent photosynthetic electron transport, urea acquisition and vitamin synthesis. We show thatP. graniiis unique among studied diatoms in its physiology stemming from distinct cellular responses, which may underlie its ability to subsist in low iron regions and rapidly bloom to outcompete other diatom taxa following iron enrichment.