bluuebunny/crossref_metadata_2025 huggingface dataset:
Cryptic ETV6-ABL1 Fusion and MLL2 Truncation Revealed by Integrative Clinical Sequencing in Multiply Relapsed Acute Lymphoblastic Leukemia
Authors: Mankuzhy Nikhil P. , Walling Emily , Anderson Bailey , Mody Rajen
Published: July 2018

The ETV6-ABL1 fusion is a rare genetic aberration classified as Philadelphia chromosome-like high-risk B-cell precursor acute lymphoblastic leukemia. We present the case of a child with multiply relapsed B-cell precursor acute lymphoblastic leukemia in which next-generation sequencing identified this cryptic fusion, undetected by standard testing, resulting in sustained clinical response to targetted therapy with imatinib. Upon subsequent relapse, repeat next-generation sequencing identified an additional aberration, MLL2-ADCY9, as a possible molecular driver conferring resistance to therapy. This report demonstrates the exciting potential of integrative clinical sequencing in identifying previously undetected actionable findings leading to improved outcomes in pediatric oncology patients.
Differences in Sampling Site on Postmortem Cerebrospinal Fluid Biochemistry
Authors: Garland Jack , Philcox Winston , Kesha Kilak , Morrow Paul , Lam Leo , Spark Amy , Palmiere Cristian , Elstub Hannah , Cala Allan D. , Stables Simon , Tse Rexson
Published: July 2018

Cerebrospinal fluid (CSF) is often analyzed at postmortem. The presented preliminary study compared postmortem CSF samples for biochemical analysis from the subarachnoid space around the spinal cord and ventricular space of the brain. This study compared 15 paired CSF samples in which the CSF from the subarachnoid space via lumbar puncture had higher sodium and chloride levels and lower magnesium and potassium levels than CSF from the ventricles. The differences correlated significantly with the deceased's age and had a similar trend with postmortem interval. This study suggests that CSF from different collection sites has different electrolyte concentrations, which are age and possibly postmortem interval dependent. When collecting CSF, the pathologist should document the collection site, age, and postmortem interval, and the mixing of CSF samples from different sites should be avoided. Further studies are warranted to clarify other possible reasons to explain the observed differences.
Discharge Plasma-Activated Saline Protects Against Abdominal Sepsis by Promoting Bacterial Clearance
Authors: Zhang Jingyao , Qu Kai , Zhang Xia , Wang Bingchuan , Wang Weitao , Bi Jianbin , Zhang Simin , Li Zeyu , Kong Michael G. , Liu Dingxin , Liu Chang
Published: July 2018

Aim:

The aim of the present study was to investigate the effect of cold atmospheric discharge plasma-activated saline (DPAS) on abdominal sepsis.

Methods:

For in vitro research, Methicillin-resistant Staphylococcus aureus (MRSA) was treated with DPAS, and the survival was detected. For in vivo research, male C57BL/6 mice were induced to sepsis by cecal ligation and puncture (CLP) and were randomly allocated into saline and DPAS control groups, CLP group, and low or high doses of DPAS (CLP + DPAS 5 and CLP + DPAS 10) groups. In experiment 1, mice were monitored for 120 h to conduct a Kaplan–Meier survival curve analysis. In experiment 2, blood, peritoneal fluid, and lung and intestinal tissues in experimental groups were collected at 4, 8, and 24 h after the CLP/sham operation to determine the severity of sepsis.

Results:

In vitro results showed that DPAS significantly inhibited MRSA proliferation. In vivo results showed that both low and high doses of DPAS could significantly improve septic survival in the mice. DPAS treatment also significantly attenuated the lung and intestine histopathological injuries; lung wet/dry ratio; inflammatory reaction; bacterial load in the peritoneal cavity, blood, and lungs; HMGB1 and NF-κB p65 expression levels; cell apoptosis in the lung and intestine. However, there was no difference between CLP + DPAS 5 and CLP + DPAS 10 groups.

Conclusion:

In conclusion, DPAS had markedly protective effects on abdominal sepsis in mice, and the potential mechanism was associated with the ability of reactive species in DPAS to promote bacterial clearance, inhibit the inflammatory response and cell apoptosis.
The Subtype Specificity of Genetic Loci Associated with Stroke in 16,664 cases and 32,792 controls
Authors: Traylor Matthew , Anderson Christopher D. , Rutten-Jacobs Loes C.A. , Falcone Guido J. , Comeau Mary E. , Ay Hakan , Sudlow Cathie L.M. , Xu Huichun , Mitchell Braxton D. , Cole John , Rexrode Kathryn , Jimenez-Conde Jordi , Schmidt Reinhold , Grewal Raji P. , Sacco Ralph , Ribases Marta , Rundek Tatjana , Rosand Jonathan , Dichgans Martin , Lee Jin-Moo , Langefeld Carl D. , Kittner Steven J. , Markus Hugh S. , Woo Daniel , Malik Rainer ,   on behalf of the NINDS Stroke Genetics Network (SiGN) and International Stroke Genetics Consortium (ISGC)
Published: July 2018

Background

Genome-wide association studies have identified multiple loci associated with stroke. However, the specific stroke subtypes affected, and whether loci influence both ischaemic and haemorrhagic stroke, remains unknown. For loci associated with stroke, we aimed to infer the combination of stroke subtypes likely to be affected, and in doing so assess the extent to which such loci have homogeneous effects across stroke subtypes.

Methods

We performed Bayesian multinomial regression in 16,664 stroke cases and 32,792 controls of European ancestry to determine the most likely combination of stroke subtypes affected for loci with published genome-wide stroke associations, using model selection. Cases were subtyped under two commonly used stroke classification systems, Trial of Org 10172 Acute Stroke Treatment (TOAST) and Causative Classification of Stroke (CCS). All individuals had genotypes imputed to the Haplotype Reference Consortium 1.1 Panel.

Results

Sixteen loci were considered for analysis. Seven loci influenced both haemorrhagic and ischaemic stroke, three of which influenced ischaemic and haemorrhagic subtypes under both TOAST and CCS. Under CCS, 4 loci influenced both small vessel stroke and intracerebral haemorrhage. An EDNRA locus demonstrated opposing effects on ischaemic and haemorrhagic stroke. No loci were predicted to influence all stroke subtypes in the same direction and only one locus (12q24) was predicted to influence all ischaemic stroke subtypes.

Conclusions

Heterogeneity in the influence of stroke-associated loci on stroke subtypes is pervasive, reflecting differing causal pathways. However, overlap exists between haemorrhagic and ischaemic stroke, which may reflect shared pathobiology predisposing to small vessel arteriopathy. Stroke is a complex, heterogeneous disorder requiring tailored analytic strategies to decipher genetic mechanisms.
sigfit: flexible Bayesian inference of mutational signatures
Authors: Gori Kevin , Baez-Ortega Adrian
Published: July 2018

Mutational signature analysis aims to infer the mutational spectra and relative exposures of processes that contribute mutations to genomes. Different models for signature analysis have been developed, mostly based on non-negative matrix factorisation or non-linear optimisation. Here we present sigfit, an R package for mutational signature analysis that applies Bayesian inference to perform fitting and extraction of signatures from mutation data. We compare the performance of sigfit to prominent existing software, and find that it compares favourably. Moreover, sigfit introduces novel probabilistic models that enable more robust, powerful and versatile fitting and extraction of mutational signatures and broader biological patterns. The package also provides user-friendly visualisation routines and is easily integrable with other bioinformatic packages.
Surveying insect flower visitors to crops in New Zealand and Australia
Authors: Howlett Brad G , Evans Lisa J. , Kendall Liam K , Rader Romina , McBrydie Heather M. , Read Samantha F.J. , Cutting Brian T. , Robson Andrew , Pattemore David E. , Willcox Bryony K.
Published: July 2018

The survey of insect flower visitors to crops dependent on their pollination is an essential component in determining their effectiveness as pollinators. In most cases, different survey techniques are required for different crops because of variation in planting design, floral density, spatial distribution of flowers or where additional factors such as the variation in plant vigour are being explored. Here we provide survey techniques that have been, or are currently being employed to survey flower visitors across different crops in New Zealand and Australia. Future studies may consider the use of similar designs that will allow for increased standardisation within and between locations and studies. This will provide opportunities for improved direct comparisons between studies, and the ability to combine data sets to address broader spatial-scale questions regarding insect pollination.
Improvements in the fossil record may largely resolve the conflict between morphological and molecular estimates of mammal phylogeny
Authors: Beck Robin M. D. , Baillie Charles
Published: July 2018

Morphological phylogenies of mammals continue to show major conflicts with the robust molecular consensus view of their relationships. This raises doubts as to whether current morphological character sets are able to accurately resolve mammal relationships, particularly for fossil taxa for which, in most cases, molecular data is unlikely to ever become available. We tested this under a hypothetical “best case scenario” by using ancestral state reconstruction (under both maximum parsimony and maximum likelihood) to infer the morphologies of fossil ancestors for all clades present in a recent comprehensive molecular phylogeny of mammals, and then seeing what effect inclusion of these predicted ancestors had on unconstrained analyses of morphological data. We found that this resulted in topologies that are highly congruent with the molecular consensus, even when simulating the effect of incomplete fossilisation. Most strikingly, several analyses recovered monophyly of clades that have never been found in previous morphology-only studies, such as Afrotheria and Laurasiatheria. Our results suggest that, at least in principle, improvements in the fossil record may be sufficient to largely reconcile morphological and molecular phylogenies of mammals, even with current morphological character sets.
The GRE Over the Entire Range of Scores Lacks Predictive Ability for PhD Outcomes In the Biomedical Sciences
Authors: Sealy Linda , Saunders Christina , Blume Jeffrey , Chalkley Roger
Published: July 2018

The association between GRE scores and academic success in graduate programs is currently of national interest. GRE scores are often assumed to be predictive of student success in graduate school. However, we found no such association in admission data from Vanderbilt’s Initiative for Maximizing Student Diversity (IMSD), which recruited historically underrepresented students for graduate study in the biomedical sciences at Vanderbilt University spanning a wide range of GRE scores. This study avoids the typical biases of most GRE investigations of performance where only high-achievers on the GRE were admitted. GRE scores, while collected at admission, were not used or consulted for admission decisions and comprise the full range of percentiles, from 1% to 91%. We report on the 29 students recruited to the Vanderbilt IMSD from 2007-2011 who have completed the program at this date. While the data set is not large, the predictive trends between GRE and long-term graduate outcomes (publications, first author publications, time to degree, predoctoral fellowship awards, and faculty evaluations) are remarkably null and there is sufficient precision to rule out even mild relationships between GRE and these outcomes. Career outcomes are encouraging; many students are in postdocs, and the rest are in stage-appropriate career environments for such a cohort, including tenure track faculty, biotech and entrepreneurship careers.
The soil microbial food web revisited with metatranscriptomics - predatory Myxobacteria as keystone taxon?
Authors: Petters Sebastian , Söllinger Andrea , Bengtsson Mia Maria , Urich Tim
Published: July 2018

Trophic interactions in the microbial food web of soils are crucial for nutrient and carbon cycling. Traditionally, protozoa are considered the major micropredators of bacteria in soil. However, some prokaryotes, such as Myxobacteria and Bdellovibrio are also famous for bacterivorous life style. Until recently, it was impossible to assess the abundance of pro- and eukaryotic micropredators in soils simultaneously. Using a metatranscriptomic three-domain profiling of small subunit ribosomal RNA we investigated the abundance of bacterivores in 28 datasets from eleven European mineral and organic soils of different climatic zones. In all soils, Myxobacteria comprised a significant proportion from 4 – 19% of prokaryotic 16S rRNA transcripts and more than 60% of all bacterivores in most soils. Haliangiaceae and Polyangiaceae were most abundant, while the name-giving Myxococcaceae were barely present. Other bacterial predators like Bdellovibrio were low abundant. Also Protozoan micropredator 18S rRNA transcripts, e.g. from Cercozoa, Amoebozoa and Ciliophora, were on average less abundant, especially in mineral soils. Nematodes were even less abundant. In addition, we applied a longitudinal approach to identify bacterivores during beech litter colonisation. Here, Myxobacteria showed prey-dependent, protozoa-like community dynamics during colonisation. Thus, their broad prey range and high abundance suggests a major influence of Myxobacteria on structuring the prokaryotic community composition in soil, and might warrant their classification as keystone taxon. Our results suggest the presence of an ecologically important “bacterial loop” in soil food webs, independent of protozoa and nematodes.
Solid immersion microscopy readily and inexpensively enables 12 nm resolution on plunge-frozen cells
Authors: Wang Lin , Bateman Benji , Zanetti-Domingues Laura C. , Moores Amy N. , Astbury Sam , Spindloe Christopher , Darrow Michele C. , Romano Maria , Needham Sarah R. , Beis Konstantinos , Rolfe Daniel J. , Clarke David T. , Martin-Fernandez Marisa L.
Published: July 2018

Super-resolution fluorescence microscopy achieves 20-30 nm resolution by using liquid-immersion objectives to optimize light collection and chemical sample fixation to minimize image blurring. It is known that fluorophore brightness increases substantially under cryogenic conditions and that cryo-fixation is far superior in preserving ultrastructure. However, cryogenic conditions have not been exploited to improve resolution or sample quality because liquid immersion media freezes at the objective, losing its optical properties. Here, simply by replacing the immersion fluid with a low-cost super-hemispherical solid immersion lens (superSIL), we effortlessly achieve <8 nm localisation precision and 12 nm resolution under cryogenic conditions in a low-cost, low-tech system. This is to our knowledge the best resolution yet attained in biological samples. Furthermore, we demonstrate multicolour imaging and show that the inexpensive setup outperforms 10-fold more costly super-resolution microscopes. By also removing the barrier to total internal reflection fluorescence imaging of mammalian cells under cryogenic conditions, superSIL microscopy delivers a straightforward route to achieve unmatched nanoscale resolution on both bacterial and mammalian cell samples, which any laboratory can effortlessly and inexpensively implement.
The crystal structure of bis[(E)-4-bromo-2-({[2-(pyridin-2-yl)ethyl]imino}methyl)phenol]nickel(II) bis[(E)-4-bromo-2-({[2-(pyridin-2-yl)ethyl]imino}methyl)phenolato]nickel(II) bis(perchlorate) methanol monosolvate, a structure containing strong inter-species hydrogen bonds
Authors: Okeke Ugochukwu , Otchere Raymond , Gultneh Yilma , Butcher Ray J.
Published: July 2018

The title compound, [Ni(C14H12BrN2O)2][Ni(C14H13BrN2O)2](ClO4)2·CH3OH consists of two mononuclear ([Ni(HL)2]2+ and [NiL
2]) complex molecules linked by strong hydrogen bonding [O...O separations of only 2.430 (5) Å], which is the shortest reported to date for such species. In one of the complexes, both the coordinated phenoxy groups retain their protons and thus this is the cationic equivalent species of the other complex where both coordinated phenoxy groups are deprotonated. In addition, perchlorate anions are present for charge balance, as well as methanol solvate molecules. For the neutral NiL
2 complex, each 2-ethylaminepyridine arm is disordered over two equivalent conformations with occupancies of 0.750 (8):0.250 (8). The perchlorate anion is disordered over two equivalent conformations with occupancies of 0.602 (8):0.398 (8). The perchlorate ions also link to the H atoms on the methanol methyl and hydroxyl groups. These interactions link the moieties into a complex three-dimensional array. The crystal studied was refined as a two-component twin.
Involvement of PorK, a component of the type IX secretion system, in Prevotella melaninogenica pathogenicity
Authors: Kondo Yoshio , Sato Keiko , Nagano Keiji , Nishiguchi Miyuki , Hoshino Tomonori , Fujiwara Taku , Nakayama Koji
Published: July 2018

Prevotella melaninogenica is a gram‐negative anaerobic commensal bacterium that resides in the human oral cavity and is isolated as a pathogen of suppurative diseases both inside and outside the mouth. However, little is known about the pathogenic factors of P. melaninogenica. The periodontal pathogens Porphyromonas gingivalis and Tanerella forsythia secrete virulence factors such as protease and bacterial cell surface proteins via a type IX secretion system (T9SS) that are involved in pathogenicity. P. melaninogenica also possesses all known orthologs of T9SS. In this study, a P. melaninogenica GAI 07411 mutant deficient in the orthologue of the T9SS‐encoding gene, porK, was constructed. Hemagglutination and biofilm formation were decreased in the porK mutant. Furthermore, following growth on skim milk‐containing medium, the diameters of the halos surrounding the porK mutant were smaller than those of the wild‐type strain, suggesting a decrease in secretion of proteases outside the bacterium. To investigate this in detail, culture supernatants of wild‐type and porK mutant strains were purified and compared by two‐dimensional electrophoresis. In the mutant strain, fewer spots were detected, indicating fewer secreted proteins. In infection experiments, the mortality rate of mice inoculated with the porK mutant strain was significantly lower than in the wild‐type strain. These results suggest that P. melaninogenica secretes potent virulence factors via the T9SS that contribute to its pathogenic ability.
Gender in the Australian Public Service: Doing, Undoing, Redoing or Done?
Authors: Williamson Sue , Colley Linda
Published: July 2018

Attention to gender equity has waxed and waned in public services but, by the 1980s, a series of policy changes placed public services among the leaders in working conditions for women. Conversely, New Public Management reforms since the 1980s focused on leaner, more efficient government and resulted in the gradual downgrading or stagnation of employment conditions for female public sector employees. In the Australian Public Service (APS), occupational segregation remains, as does under‐representation of women in senior management. In 2016, the Australian government announced its commitment to progressing gender equality with the release of an APS gender equality strategy. Drawing on frameworks for ‘doing’ and ‘undoing’ gender at work, this research uses data from interviews and focus groups to first, identify staff experiences in one large APS agency to examine how gender is done, and second, consider the transformative potential of this strategy to lead to workplaces where gender has been redone or undone, and third, consider the implications for women's equity.
Family Arrangements and Children's Education Among Migrants: A Case Study of China
Authors: Huang Youqin , Liang Zai , Song Qian , Tao Ran
Published: July 2018

As China is experiencing an urban revolution with massive rural‐to‐urban migration, millions of children are profoundly affected by their parents’ migration and their decisions about family arrangements. With the discriminatory hukou system and harsh living conditions in cities, the dilemma migrant parents face is whether they should take their children with them to the city or leave them behind. This decision determines the household, school and community environments that children live in, which, in turn, shape their well‐being. With a unique strategy of comparing ‘left‐behind children’ to ‘migrant children’ and a gendered perspective, this article examines how different family arrangements among migrants and consequent housing conditions and gender dynamics affect children's educational well‐being. Our findings demonstrate the complex impact of family arrangements on children, which is conditioned by wage income and the gender of the absent parent and the child. We find that children from less favorable socio‐economic backgrounds benefit more from moving to cities. Children living with both parents and those living with their mother or grandparents tend to do better. While the effect of housing conditions is marginal, family arrangements have a gendered effect on children. Related policy recommendations are provided.
Paranoia and interpersonal functioning across the continuum from healthy to pathological – Network analysis
Authors: Hajdúk Michal , Klein Hans S. , Harvey Philip D. , Penn David L. , Pinkham Amy E.
Published: July 2018

Objective

Previous research has suggested that paranoia is associated with impaired social functioning in patients with schizophrenia and healthy individuals with high levels of paranoid ideation. This study analysed the relationship between paranoia and interpersonal functioning across the paranoia continuum using network analysis.

Method

Levels of paranoid ideation and interpersonal functioning were measured in a non‐clinical sample (N = 853) and in patients with schizophrenia spectrum disorders (N = 226). Network analyses were used to examine the nature of paranoia's relation to interpersonal functioning in both populations.

Results

Although the most central characteristic of paranoia in both samples was the feeling of being talked about behind one's back, across samples, individual characteristics were differentially related to various aspects of interpersonal functioning. Among clinical individuals, difficulties in interpersonal functioning were related to perceived previous experiences of being treated poorly by others, whereas among the non‐clinical sample, interpersonal functioning was related to negative beliefs about others.

Conclusions

The current results support previous findings linking paranoid ideation to interpersonal functioning in both clinical and non‐clinical samples. Patterns of these relationships differed slightly across groups. Results in general support a continuum model of paranoia.

Practitioner points

Network analyses were used to identify central aspects of persecutory ideation in both clinical and non‐clinical samples. Qualitative assessment of clinical and non‐clinical networks revealed similar central symptoms and supported a continuum model of paranoia.

Central aspects of paranoia, that is, feeling that others have talked about oneself behind one's back, being disappointed by others, and having distressing feelings of being watched by others, were associated with deficits in interpersonal functioning in both samples.

Central aspects of paranoia may be beneficial targets for psychosocial interventions aimed at reducing paranoid ideation and improving interpersonal functioning.

Demographic characteristics for this study differed between samples which may limit generalization of findings.

Future research is needed to explore temporal associations and moment‐to‐moment dynamics between paranoid ideation and problems in interpersonal functioning.
Clinical and genetic ancestry profile of a large multi‐centre sickle cell disease cohort in Brazil
Authors: Carneiro‐Proietti Anna B. F. , Kelly Shannon , Miranda Teixeira Carolina , Sabino Ester C. , Alencar Cecilia S. , Capuani Ligia , Salomon Silva Tassila P. , Araujo Aderson , Loureiro Paula , Máximo Cláudia , Lobo Clarisse , Flor‐Park Miriam V. , Rodrigues Daniela O. W. , Mota Rosimere A. , Gonçalez Thelma T. , Hoppe Carolyn , Ferreira João E. , Ozahata Mina , Page Grier P. , Guo Yuelong , Preiss Liliana R. , Brambilla Donald , Busch Michael P. , Custer Brian ,   the International Component of the NHLBI Recipient Epidemiology and Donor Evaluation Study (REDS‐III)
Published: July 2018

Approximately 3500 children with sickle cell disease (SCD) are born in Brazil each year, but the burden ofSCDmorbidity is not fully characterised. A large, multi‐centre cohort was established to characterise clinical outcomes in the BrazilianSCDpopulation and create the infrastructure to perform genotype‐phenotype association studies. Eligible patients were randomly selected from participating sites and recruited at routine visits. A biorepository of blood samples was created and comprehensive demographic and clinical outcome data were entered in a centralized electronic database. Peripheral blood genome‐wide single nucleotide polymorphism (SNP) genotyping was performed using a customized Transfusion Medicine (TM) Array. A total of 2795 participants at six Brazilian sites were enrolled between 2013 and 2015. The cohort included slight predominance of children <18 years (55·9%) and females (53·0%). Haemoglobin (Hb)SSwas the most commonSCDgenotype (70·7%), followed by HbSC(23%), Sβ0 (3·0%) and Sβ+ (2·9%).SNPdata from theTMArray were analysed to evaluate the genetic ancestry of the cohort and revealed significant admixture among the population. Demographics and clinical complications, stratified by age andSCDgenotype, are summarized and future studies in this cohort are discussed.
Incidence of intracranial bleeding in anticoagulated patients with minor head injury: a systematic review and meta‐analysis of prospective studies
Authors: Minhas Hersimren , Welsher Arthur , Turcotte Michelle , Eventov Michelle , Mason Suzanne , Nishijima Daniel K. , Versmée Grégoire , Li Meirui , de Wit Kerstin
Published: July 2018

Guidelines advise performing a computed tomography head scan for all anticoagulated head injured patients, but the risk of intracranial haemorrhage (ICH) after a minor head injury is unclear. We conducted a systematic review and meta‐analysis to determine the incidence of ICH in anticoagulated patients presenting with a minor head injury and a Glasgow Coma Score (GCS) of 15. We followed Meta‐Analyses and Systematic Reviews of Observational Studies guidelines. We included all prospective studies recruiting consecutive anticoagulated emergency patients presenting with a head injury. Anticoagulation included vitamin‐K antagonists (warfarin, fluindione), direct oral anticoagulants (apixaban, rivaroxaban, dabigatran and edoxaban) and low molecular weight heparin. A total of five studies (including 4080 anticoagulated patients with a GCS of 15) were included in the analysis. The majority of patients took vitamin K antagonists (98·3%). There was significant heterogeneity between studies with regards to mechanism of injury and methods. The random effects pooled incidence of ICH was 8·9% (95% confidence interval 5·0–13·8%). In conclusion, around 9% of patients on vitamin K antagonists with a minor head injury develop ICH. There is little data on the risk of traumatic intracranial bleeding in patients who have a GSC 15 post‐head injury and are prescribed a direct oral anticoagulant.
Species at risk in Ontario: An examination of environmental non‐governmental organizations
Authors: Olive Andrea , Penton Grant
Published: July 2018

Biodiversity loss and species at risk conservation are significant global environmental issues. In Ontario, one of Canada's largest and most biologically diverse provinces, the government passed stringent species at risk policy in 2007, which it has since failed to fully implement. Such failure leaves a void that must be filled by other actors. This paper examines that role that environmental non‐governmental organizations (eNGOs) play in species at risk conservation in Ontario. A survey of 42 conservation eNGOs reveals that there is a small core group of dedicated eNGOs in the province. These groups maintain open lines of communication with landowners, government, and each other, while fulfilling the traditional roles of public education and advocacy. While there is no single eNGO in Ontario to champion species at risk as a single issue, there are numerous groups working together to improve species at risk conservation in the province.
Norwegian child welfare workers' perceptions of emergency placements
Authors: Storhaug Anita Skårstad , Kojan Bente Heggem , Fjellvikås Grethe
Published: July 2018

Emergency placements in child welfare services have increased during the last 10 years in Norway. At the time of placement, some of these children have been in the child welfare system for several years. Based on qualitative interviews, our study explores Norwegian child welfare workers' perceptions of long‐term cases resulting in emergency placements. The participants reported that they felt they had intervened too late, as it took them too long to understand the severity of the situation. This occurred mainly due to three factors: (a) The work had mainly been based on the parents' premises; (b) having too much distance to the child, as they talked too little with the child, too late in the process; (c) an experience of lacking methodological skills needed and sufficient opportunities to conduct proper observations and assessments; (d) supportive measures were tried for too long, and these measures were not properly evaluated. Giving other professionals' assessments considerable weight in the decision‐making process, and the use of legal language rather than independent, professional assessments, can be seen as another way of distancing themselves from both the family and the decisions being made.
Novel SBF2 mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2
Authors: Laššuthová P. , Vill K. , Erdem‐Ozdamar S. , Schröder J.M. , Topaloglu H. , Horvath R. , Müller‐Felber W. , Bansagi B. , Schlotter‐Weigel B. , Gläser D. , Neupauerová J. , Sedláčková L. , Staněk D. , Mazanec R. , Weis J. , Seeman P. , Senderek J.
Published: July 2018

Biallelic SBF2 mutations cause Charcot‐Marie‐Tooth disease type 4B2 (CMT4B2), a sensorimotor neuropathy with autosomal recessive inheritance and association with glaucoma. Since the discovery of the gene mutation, only few additional patients have been reported. We identified seven CMT4B2 families with nine different SBF2 mutations. Revisiting genetic and clinical data from our cohort and the literature, SBF2 variants were private mutations, including exon‐deletion and de novo variants. The neuropathy typically started in the first decade after normal early motor development, was predominantly motor and had a rather moderate course. Electrophysiology and nerve biopsies indicated demyelination and excess myelin outfoldings constituted a characteristic feature. While neuropathy was >90% penetrant at age 10 years, glaucoma was absent in ~40% of cases but sometimes developed with age. Consequently, SBF2 mutation analysis should not be restricted to individuals with coincident neuropathy and glaucoma, and CMT4B2 patients without glaucoma should be followed for increased intraocular pressure. The presence of exon‐deletion and de novo mutations demands comprehensive mutation scanning and family studies to ensure appropriate diagnostic approaches and genetic counseling.
Spectral Gradient Sampling for Path Tracing
Authors: Petitjean Victor , Bauszat Pablo , Eisemann Elmar
Published: July 2018

Spectral Monte‐Carlo methods are currently the most powerful techniques for simulating light transport with wavelength‐dependent phenomena (e.g., dispersion, colored particle scattering, or diffraction gratings). Compared to trichromatic rendering, sampling the spectral domain requires significantly more samples for noise‐free images. Inspired by gradient‐domain rendering, which estimates image gradients, we propose spectral gradient sampling to estimate the gradients of the spectral distribution inside a pixel. These gradients can be sampled with a significantly lower variance by carefully correlating the path samples of a pixel in the spectral domain, and we introduce a mapping function that shifts paths with wavelength‐dependent interactions. We compute the result of each pixel by integrating the estimated gradients over the spectral domain using a one‐dimensional screened Poisson reconstruction. Our method improves convergence and reduces chromatic noise from spectral sampling, as demonstrated by our implementation within a conventional path tracer.
A Physically‐based Appearance Model for Special Effect Pigments
Authors: Guo Jie , Chen Yanjun , Guo Yanwen , Pan Jingui
Published: July 2018

An appearance model for materials adhered with massive collections of special effect pigments has to take both high‐frequency spatial details (e.g., glints) and wave‐optical effects (e.g., iridescence) due to thin‐film interference into account. However, either phenomenon is challenging to characterize and simulate in a physically accurate way. Capturing these fascinating effects in a unified framework is even harder as the normal distribution function and the reflectance term are highly correlated and cannot be treated separately. In this paper, we propose a multi‐scale BRDF model for reproducing the main visual effects generated by the discrete assembly of special effect pigments, enabling a smooth transition from fine‐scale surface details to large‐scale iridescent patterns. We demonstrate that the wavelength‐dependent reflectance inside the pixel's footprint follows a Gaussian distribution according to the central limit theorem, and is closely related to the distribution of the thin‐film's thickness. We efficiently determine the mean and the variance of this Gaussian distribution for each pixel whose closed‐form expressions can be derived by assuming that the thin‐film's thickness is uniformly distributed. To validate its effectiveness, the proposed model is compared against some previous methods and photographs of actual materials. Furthermore, since our method does not require any scene‐dependent precomputation, the distribution of thickness is allowed to be spatially‐varying.
Quad‐Based Fourier Transform for Efficient Diffraction Synthesis
Authors: Scandolo Leonardo , Lee Sungkil , Eisemann§ Elmar
Published: July 2018

Far‐field diffraction can be evaluated using the Discrete Fourier Transform (DFT) in image space but it is costly due to its dense sampling. We propose a technique based on a closed‐form solution of the continuous Fourier transform for simple vector primitives (quads) and propose a hierarchical and progressive evaluation to achieve real‐time performance. Our method is able to simulate diffraction effects in optical systems and can handle varying visibility due to dynamic light sources. Furthermore, it seamlessly extends to near‐field diffraction. We show the benefit of our solution in various applications, including realistic real‐time glare and bloom rendering.
The cell re‐association‐based whole‐tooth regeneration strategies in large animal, Sus scrofa
Authors: Wang Fu , Wu Zhifang , Fan Zhipeng , Wu Tingting , Wang Jinsong , Zhang Chunmei , Wang Songlin
Published: July 2018

Objectives

Whole‐tooth regeneration for tooth loss has long been a goal of dentistry. There is also an increasing demand to carry out pre‐clinical in vitro and in vivo research methods in large animal model similar to human. The miniature pig has proven to be an alternative as a large mammal model owing to its many similarities to human. However, whole‐tooth regeneration in large animal remains a challenge. Here, we investigated the feasibility of cell re‐association‐based whole‐tooth regeneration in miniature pigs.

Materials and methods

Single cells from the forth deciduous molar germs (p4) of pig were reconstituted to bioengineered tooth bud using different treatment for in vitro culture and in vivo transplantation in mouse subrenal capsules and jawbones.

Results

The bioengineered tooth bud from re‐aggregated epithelial to mesenchymal single cells with and without compartmentalization restored the morphogenesis, interactions or self‐sorting between 2 cells in vitro culture. The pig bioengineered tooth bud transplanted in mouse subrenal capsules and jawbones restored odontogenesis and developed into large size tooth.

Conclusions

We characterized the morphogenesis and interaction of single‐tooth germ cells in vitro, and first addressed efficient long‐term survival and growth through transplantation of pig bioengineered tooth bud under mouse subrenal capsules or in mouse jawbones, where it can develop into large size tooth. Our study extends the feasibility of whole‐tooth regeneration in large animal.
A Topical Exploration of the Intellectual Development of Decision Sciences 1975–2016
Authors: Chae Bongsug (Kevin) , Olson David
Published: July 2018

This article reviews Decision Sciences journal articles and metadata to analyze its intellectual tradition. Text analytics is used with probabilistic topic modeling. The topical structure of the journal is reviewed by topic definition and popularity, with correlations. Fifty research topics or themes involving a wide range of quantitative methods and decision‐making practice were selected. Functional areas were also examined. The evolution of topics since 1975 is noted. There is clear indication that journal coverage has evolved. In early years, emphasis was on quantitative modeling methods and relevant methodologies. More recently new research areas to include supply chain management, marketing, service management, and health care are more noted. Some topics are highly correlated. We find that this evolution reflects the changes occurring in business and decision‐making environment. The article discusses external and internal factors important in shaping the journal's topical trajectory. Unique challenges in analyzing text data are discussed. Latent Dirichlet Allocation, an unsupervised Bayesian approach for statistical topic modeling, is applied to 1,698 research articles from Decision Sciences over the period from 1975 to 2016. This approach is found to be useful to discover journal topical trends. Potential for other applications in decision sciences is discussed.
Austerity and families with disabled children: a European survey
Authors: Horridge Karen A , Dew Rosie , Chatelin Alain , Seal Arnab , Macias Lourdes Merio , Cioni Giovanni , Kachmar Oleh , Wilkes Scott ,   On behalf of the European Academy of Childhood Disability
Published: July 2018

Aim

To describe the impact austerity measures have had on families with disabled children across Europe and on professionals providing services for them.

Method

Cross‐sectional surveys were disseminated via professional and family networks in 32 European countries for 3 months from December 2016.

Results

Families (n=731), of whom 45% met UNICEF criteria for severe poverty, and professionals (n=959) responded from 23 and 32 countries respectively. Respondents were grouped into those from countries with and without austerity. The direct and indirect impact of austerity cuts and worse working conditions were reported more often by professionals from countries with austerity, compared to those without. Most families reported services to be worse in quality than 3 years ago. Families with completely dependent disabled children said the needs of their disabled children are significantly less well met now, compared to 10 years ago.

Interpretation

A decline in quality of services for disabled children was reported by most family and many professional respondents across Europe, regardless of austerity. Where implemented, austerity measures were reported to have impacted significantly on families with disabled children.

What this paper adds

Stigma about disability remains a challenge in many countries across Europe.

Most families and many health care professionals reported worsening quality of services than 3 years ago, regardless of austerity.

Austerity cuts are reported to have impacted especially negatively on families with dependent disabled children.
The need for specific paediatric tools for stroke recognition
Authors: Dachy Bernard
Published: July 2018

This commentary is on the original article by Mackay et al. on pages 1117–1122 of this issue.
Diagnosis of erectile dysfunction can be used to improve screening for Type 2 diabetes mellitus
Authors: Carrillo‐Larco R. M. , Luza‐Dueñas A. C. , Urdániga‐Hung M. , Bernabé‐Ortiz A.
Published: July 2018

Aims

To assess the diagnostic accuracy of four undiagnosed Type 2 diabetes mellitus risk scores accounting for erectile dysfunction status.

Methods

This was a population‐based cross‐sectional study. Type 2 diabetes was defined according to a oral glucose tolerance test and self‐reported physician diagnosis. Erectile dysfunction was defined according to the answer to the question, ‘Have you had difficulties obtaining an erection in the last 6 months?’ (yes/no). The risk scores used were the FINDRISC, LA‐FINDRISC, American Diabetes Association score and the Peruvian Risk Score. A Poisson regression model was fitted to assess the association between Type 2 diabetes and erectile dysfunction. The area under the receiver‐operating characteristic curve was estimated overall and by erectile dysfunction status.

Results

A total of 799 men with a mean (sd) age of 48.6 (10.7) years were included in the study. The overall prevalence of Type 2 diabetes was 9.3%. Compared with healthy men, men with Type 2 diabetes had 2.71 (95% CI 1.57–4.66) higher chances of having erectile dysfunction. Having excluded men aware of Type 2 diabetes status (N=38), the area under the receiver‐operating characteristic curve of three of the risk scores (not the American Diabetes Association score) improved among those who had erectile dysfunction in comparison with those who did not; for example, the area under the receiver‐operating characteristic curve of the LA‐FINDRISC score was 89.6 (95% CI 78.7–99.9) in men with erectile dysfunction and 76.5 (95% CI 68.5–84.4) overall.

Conclusions

In a population‐based study, erectile dysfunction was more common in men with Type 2 diabetes than in the otherwise healthy men. Screening for erectile dysfunction before screening for Type 2 diabetes seems to improve the accuracy of well‐known risk scores for undiagnosed Type 2 diabetes.
Oxidative stress, eryptosis and anemia: a pivotal mechanistic nexus in systemic diseases
Authors: Bissinger Rosi , Bhuyan Abdulla Al Mamun , Qadri Syed M. , Lang Florian
Published: July 2018

The average lifespan of circulating erythrocytes usually exceeds hundred days. Prior to that, however, erythrocytes may be exposed to oxidative stress in the circulation which could cause injury and trigger their suicidal death or eryptosis. Oxidative stress activates Ca2+‐permeable nonselective cation channels in the cell membrane, thus, stimulating Ca2+ entry and subsequent cell membrane scrambling resulting in phosphatidylserine exposure and activation of Ca2+‐sensitive K+ channels leading to K+ exit, hyperpolarization, Cl− exit, and ultimately cell shrinkage due to loss of KCl and osmotically driven water. While the mechanistic link between oxidative stress and anemia remains ill‐defined, several diseases such as diabetes, hepatic failure, malignancy, chronic kidney disease and inflammation have been identified to display both increased oxidative stress as well as eryptosis. Recent compelling evidence suggests that oxidative stress is an important perpetrator in accelerating erythrocyte loss in different systemic conditions and an underlying mechanism for anemia associated with these pathological states. In the present review, we discuss the role of oxidative stress in reducing erythrocyte survival and provide novel insights into the possible use of antioxidants as putative antieryptotic and antianemic agents in a variety of systemic diseases.
Endoplasmic reticulum stress signalling – from basic mechanisms to clinical applications
Authors: Almanza Aitor , Carlesso Antonio , Chintha Chetan , Creedican Stuart , Doultsinos Dimitrios , Leuzzi Brian , Luís Andreia , McCarthy Nicole , Montibeller Luigi , More Sanket , Papaioannou Alexandra , Püschel Franziska , Sassano Maria Livia , Skoko Josip , Agostinis Patrizia , de Belleroche Jackie , Eriksson Leif A. , Fulda Simone , Gorman Adrienne M. , Healy Sandra , Kozlov Andrey , Muñoz‐Pinedo Cristina , Rehm Markus , Chevet Eric , Samali Afshin
Published: July 2018

The endoplasmic reticulum (ER) is a membranous intracellular organelle and the first compartment of the secretory pathway. As such, the ER contributes to the production and folding of approximately one‐third of cellular proteins, and is thus inextricably linked to the maintenance of cellular homeostasis and the fine balance between health and disease. Specific ER stress signalling pathways, collectively known as the unfolded protein response (UPR), are required for maintaining ER homeostasis. The UPR is triggered when ER protein folding capacity is overwhelmed by cellular demand and the UPR initially aims to restore ER homeostasis and normal cellular functions. However, if this fails, then the UPR triggers cell death. In this review, we provide a UPR signalling‐centric view of ER functions, from the ER's discovery to the latest advancements in the understanding of ER and UPR biology. Our review provides a synthesis of intracellular ER signalling revolving around proteostasis and the UPR, its impact on other organelles and cellular behaviour, its multifaceted and dynamic response to stress and its role in physiology, before finally exploring the potential exploitation of this knowledge to tackle unresolved biological questions and address unmet biomedical needs. Thus, we provide an integrated and global view of existing literature on ER signalling pathways and their use for therapeutic purposes.
Trade costs and the choice of international commodity tax base revisited: The role of transboundary pollution
Authors: Wu Tsaur‐Chin
Published: July 2018

It is generally believed that when trade costs fall, the origin‐based production taxes are superior to the destination‐based consumption taxes under imperfect competition. This result can be justified from a perspective of purely local pollution when considering a production‐type externality. However, we show that with smaller trade costs, the destination‐based consumption taxes tend to generate greater welfare levels than the origin‐based production taxes when the degree of a production‐type transboundary externality is high enough, contrary to general belief.
Enhanced utilisation of nonmarketable fish: physical, nutritional and sensory properties of ‘clean label’ fish burgers
Authors: Husein Yara , Secci Giulia , Dinnella Caterina , Parisi Giuliana , Fusi Renzo , Monteleone Erminio , Zanoni Bruno
Published: July 2018

Four ‘clean label’ formulations for fish burgers made with mechanically separated fish meat were characterised in sensory, textural and chemical terms. The formulations differed in the ratios of European sea bass to rainbow trout (50:50 and 30:70) and the ratios of fish to potato flakes (dry matter ratio, DMR: 2.5:1 and 1.5:1). The sensory profile was mainly influenced by DMR. Recipes with the higher DMR were positively correlated with sandy, dry and crusty attributes, salty taste and overall flavour. Soft texture was perceived for recipes with the lower DMR, although no differences in texture were detected by a texturometer. Lowering DMR increased ash and water content and decreased protein content, as expected. The results indicated that 100 g of burger provided more essential fatty acids than the recommended daily intake, irrespective of formulation. In conclusion, multiple factor analysis indicated that the main changes detected and perceived were due to DMR.