bluuebunny/crossref_metadata_2025 huggingface dataset:
The Association Between Human Leukocyte Antigens and ITP, TTP, and HIT
Authors: Amin Asnafi Ali , Jalali Mohammad Taha , Pezeshki Seyed Mohammad Sadegh , Jaseb Kaveh , Saki Najmaldin
Published: December 2018

Background:

Autoimmune thrombocytopenia in immune thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP), and heparin-induced thrombocytopenia (HIT) is associated with immunologic degradation of platelets and reduced platelet counts in patients, leading to bleeding risk in patients. Considering the role of human leukocyte antigens (HLA) in the development of immune response, in this review, we examine the relationship between HLA and pathogenesis of the above-mentioned diseases.

Methods:

Relevant English-language literature was searched and retrieved from Google Scholar search engine and PubMed database (1979 to 2018). The following keywords were used: “Immune Thrombocytopenic purpura,” “Thrombotic Thrombocytopenic Purpura,” Human Leukocyte Antigen,” and “Heparin-induced thrombocytopenia.”

Results:

In autoimmune thrombocytopenia, HLA molecule presents self-antigens or foreign antigens similar to self-antigens, provoking an immune response against platelets that results in the degradation of platelets in peripheral blood and possible bleeding in the patient. For example, HLA-DRB1 *11 presents the self-antigen and induces an immune response against ADAMTS13, which is associated with thrombocytopenia in TTP patients.

Conclusions:

HLA alleles can be used as prognostic biomarkers for immunologic disorders of platelet such as ITP, TTP, and HIT. Different DRB1 alleles enable the assessment of resistance to common ITP treatments as well as disease prognosis. Due to the genetic association between HLA-DR1 and HLA-DQ1 alleles and the role of HLA-DRB1 *11 in TTP, the HLA-DQB1 *02: 02 allele may also play a role in TTP pathogenesis.
Successful Treatment of Relapsed Pediatric Acute Myeloid Leukemia Presenting as Central Nervous System Myeloid Sarcoma: A Single-Institution Case Series
Authors: Bujold Kenneth E. , Dandekar Smita , Barbour Mustafa
Published: December 2018

Relapsed acute myeloid leukemia presenting as an isolated central nervous system myeloid sarcoma (CNS MS) is very rare and generally entails poor outcomes. CNS MS treatment is not well defined and can include systemic chemotherapy, intrathecal chemotherapy, radiation therapy, or hematopoietic stem cell transplant. Thiotepa, vinorelbine, topotecan, and clofarabine (TVTC) has been successful for reinduction therapy in relapsed/refractory leukemia to induce remission before hematopoietic stem cell transplant. There is no published evidence of TVTC being utilized for CNS MS. In this series, we report 2 symptomatic patients with isolated CNS MS at relapse who demonstrated near complete resolution after reinduction with TVTC and additional intrathecal chemotherapy.
Developmental Trajectories and Reference Percentiles for the 6-Minute Walk Test for Children With Cerebral Palsy
Authors: Fiss Alyssa LaForme , Jeffries Lynn , Bjornson Kristie , Avery Lisa , Hanna Steven , Westcott McCoy Sarah
Published: December 2018

Purpose:

The purposes of this study were to document longitudinal developmental trajectories in 6-minute walk test (6MWT) distances and to develop age-specific reference percentiles for children across different Gross Motor Function Classification System (GMFCS) levels.

Methods: A total of

456 children with cerebral palsy ages 3 to 12 years of, GMFCS levels I to III participated. Children's motor function was classified on the GMFCS, and children completed the 6MWT 2 to 5 times in 2 years.

Results:

Longitudinal developmental trajectories support that 6MWT distances increase with age followed by a tapering, as children approach their functional limit relative to their GMFCS level. Reference percentile graphs were created to monitor change over time.

Conclusions:

The 6MWT longitudinal developmental trajectories, reference percentiles, and interpretation of percentile change should assist collaborative and proactive intervention planning relative to functional walking capacity for children with cerebral palsy.
Vaccinomics strategy for developing a unique multi-epitope monovalent vaccine against Marburg marburgvirus
Authors: Hasan Mahmudul , Azim Kazi Faizul , Begum Aklima , Khan Noushin Anika , Shammi Tasfia Saiyara , Imran Md. Abdus Shukur , Chowdhury Ishtiak Malique , Urme Shah Rucksana Akhter
Published: December 2018

Marburg virus causes severe hemorrhagic fever in both humans and non-human primates with high degree of infectivity and lethality. To date no approved treatment is available for Marburg virus infection. A study was employed to design a novel chimeric vaccine against Marburg virus by adopting reverse vaccinology approach. Envelope glycoprotein and matrix protein VP40 were identified as most antigenic viral proteins which generated a plethora of antigenic epitopes. Results showed that vaccine construct V1 was superior in terms of various physicochemical properties and structural stability. Molecular docking analysis of the refined vaccine with different MHCs and human immune TLR8 receptor demonstrated higher binding affinity. Moreover, complexed structure of the modeled vaccine and TLR8 indicated minimal deformability at molecular level. Translational potency and microbial expression of the modeled vaccine within E. coli strain K12 by pET28a(+) vector were also biologically significant. However, further in vitro and in vivo investigation could be implemented for the acceptance and validation of the designed vaccine against Marburg virus.
Estimating the fitness effect of deleterious mutations during the two phases of the life cycle: a new method applied to the root-rot fungusHeterobasidion parviporum
Authors: Clergeot Pierre-Henri , Rode Nicolas O. , Glémin Sylvain , Brandström-Durling Mikael , Ihrmark Katarina , Olson Åke
Published: December 2018

Many eukaryote species including taxa such as fungi or algae have a lifecycle with substantial haploid and diploid phases. A recent theoretical model predicts that such haploid-diploid lifecycles are stable over long evolutionary time scales when segregating deleterious mutations have stronger effects in homozygous diploids than in haploids and when they are partially recessive in heterozygous diploids. The model predicts that effective dominance, a measure that accounts for these two effects, should be close to 0.5 in these species. It also predicts that diploids should have higher fitness than haploids on average. However, an appropriate statistical framework to conjointly investigate these predictions is currently lacking. In this study, we derive a new quantitative genetic model to test these predictions using fitness data of two haploid parents and their diploid offspring and genome-wide genetic distance between haploid parents. We apply this model to the root-rot basidiomycete fungusHeterobasidion parviporum, a species where the heterokaryotic (equivalent to the diploid) phase is longer than the homokaryotic (haploid) phase. We measured two fitness-related traits (mycelium growth rate and the ability to degrade wood) in both homokaryons and heterokaryons and we used whole-genome sequencing to estimate nuclear genetic distance between parents. Possibly due to a lack of power, we did not find that deleterious mutations were recessive or more deleterious when expressed during the heterokaryotic phase. Using this model to compare effective dominance among haploid-diploid species where the relative importance of the two phases varies should help better understand the evolution of haploid-diploid life cycles.

Article summary for Issue Highlights

Many eukaryote species including taxa such as fungi or algae spend a large portion of their life cycle as haploids and as diploids. Clergeot, Rodeet al.derive a statistical model to test whether deleterious mutations have stronger effects in homozygous diploids than in haploids, whether they are partially recessive in heterozygous diploids and whether diploids have higher fitness than haploids on average. As an illustration, they use their model to study growth rate and the ability to degrade wood in the root-rot fungusHeterobasidion parviporum. Their model should help gaining further insights into the evolution of haploid-diploid life cycles.
FishNET: An automated relational database for zebrafish colony management
Authors: Gutierrez Abiud Cantu , Gutierrez Manuel Cantu , Rhyner Alexander M. , Ruiz Oscar E. , Eisenhoffer George T. , Wythe Joshua D.
Published: December 2018

The zebrafishDanio reriois a powerful model system to study the genetics of development and disease. However, maintenance of zebrafish husbandry records is both time intensive and laborious, and a standardized way to manage and track the large amount of unique lines in a given laboratory or centralized facility has not been embraced by the field. Here we present FishNet, an intuitive, open source, relational database for managing data and information related to zebrafish husbandry and maintenance. By creating a “virtual facility”, FishNET enables users to remotely inspect the rooms, racks, tanks and lines within a given facility. Importantly, FishNET scales from one laboratory, to an entire facility with several laboratories, to multiple facilities, generating a cohesive laboratory and community-based platform. Automated data entry eliminates confusion regarding line nomenclature and streamlines maintenance of individual lines, while flexible query forms allow researchers to retrieve database records based on user-defined criteria. FishNet also links associated embryonic and adult biological samples with data, such as genotyping results or confocal images, to enable robust and efficient colony management and storage of laboratory information. A shared calendar function with email notifications and automated reminders for line turnover, automated tank counts and census reports promote communication with both end-users and administrators. The expected benefits of FishNET are improved vivaria efficiency, increased quality control for experimental numbers, and flexible data reporting and retrieval. FishNet’s easy, intuitive record management and open source, end user-modifiable architecture provides an efficient solution to real-time zebrafish colony management for users throughout a facility and institution, and in some cases across entire research hubs.
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model
Authors: Guedj Faycal , Pennings Jeroen LA , Siegel Ashley E , Alsebaa Fatimah , Massingham Lauren J , Tantravahi Umadevi , Bianchi Diana W
Published: December 2018

Human fetuses with trisomy 21 (T21) have atypical brain development that is apparent sonographically in the second trimester. Prenatal diagnosis provides a potential opportunity to begin treatmentin utero. We hypothesize that by analyzing and integrating dysregulated gene expression and pathways common to humans with DS and mouse models we can discover novel targets for therapy. Here, we tested the safety and efficacy of apigenin (4’, 5, 7-trihydroxyflavone), identified using this approach, in both human amniocytes from fetuses with T21 and in the Ts1Cje mouse model. The experiments compared treated to untreated results in T21 and euploid cells, as well as in Ts1Cje mice and their wild-type littermate controls. T21 cells cultured with apigenin (2µM) had significantly reduced oxidative stress and improved antioxidant defense responsein vitro. Apigenin (333-400 mg/kg/day), mixed with chow, was initiated prenatally to the dams and fed to the pups over their lifetimes. There was no significant increase in birth defects or pup deaths resulting from prenatal apigenin treatment. Apigenin significantly improved several developmental milestones and spatial olfactory memory in Ts1Cje neonates. In addition, we noted sex-specific effects on exploratory behavior and long-term hippocampal memory in adult mice, with males showing significantly more improvement than females. Global gene expression analyses demonstrated that apigenin targets similar signaling pathways through common upstream regulators bothin vitroandin vivo. These studies provide proof-of-principle that apigenin has therapeutic effects in preclinical models of Down syndrome.

ONE SENTENCE SUMMARY

As a candidate prenatal treatment for Down syndrome, apigenin improved oxidative stress/antioxidant capacity imbalance and reduced pathways associated with inflammation in human cells while improving aspects of behavior in the Ts1Cje mouse model.
The hippocampus encodes delay and value information during delay-discounting decision making
Authors: Masuda Akira , Sano Chie , Zhang Qi , Goto Hiromichi , McHugh Thomas J. , Fujisawa Shigeyoshi , Itohara Shigeyoshi
Published: December 2018

The hippocampus, a region critical for memory and spatial navigation, has been implicated in delay discounting, the decline in subjective reward value when a delay is imposed. However, how delay discounting is encoded in the hippocampus is poorly understood. Here we recorded from the hippocampal CA1 region of mice performing a delay-discounting decision-making task, where delay lengths and reward amounts were changed across sessions, and identified subpopulations of neurons in CA1 which increased or decreased their firing rate during long delays. The activity of both delay-active and -suppressive cells reflected delay length, reward amount, and arm position, however manipulating reward amount differentially impacted the two populations, suggesting distinct roles in the valuation process. Further, genetic deletion of NMDA receptor in hippocampal pyramidal cells impaired delay-discount behavior and diminished delay-dependent activity in CA1. Our results suggest that distinct subclasses of hippocampal neurons concertedly support delay-discounting decision in a manner dependent on NMDA receptor function.
Gene encoding a novel enzyme of LDH2/MDH2 family is lost in plant and animal genomes during transition to land
Authors: Puzakova L.V. , Puzakov M.V. , Soldatov A.A.
Published: December 2018

L-lactate/malate dehydrogenases (LDH/MDH) and type 2 L-lactate/malate dehydrogenases (LDH2/MDH2) belong to NADH/NADPH-dependent oxidoreductases (anaerobic dehydrogenases). They form a large protein superfamily with multiple enzyme homologs found in all branches of life: from bacteria and archaea to eukaryotes, and play an essential role in metabolism. Here we describe the gene encoding a new enzyme of LDH2/MDH2 oxidoreductase family. This gene is found in genomes of all studied groups/classes of bacteria and fungi. In the plant kingdom this gene was observed only in algae, but not in bryophyta or spermatophyta. This gene is present in all taxonomic groups of animal kingdom beginning with protozoa, but is lost in lungfishes and other, higher taxa of vertebrates (amphibians, reptiles, avians and mammals). Since the gene encoding the new enzyme is found only in taxa associated with the aquatic environment, we named itAqE (aquatic enzyme). We demonstrated thatAqEgene is convergently lost in different independent lineages of animals and plants. Interestingly, the loss of the gene is consistently associated with transition from aquatic to terrestrial life forms, which suggests that this enzyme is essential in aquatic environment, but redundant or even detrimental in terrestrial organisms.
Qtlizer: comprehensive QTL annotation of GWAS results
Authors: Munz Matthias , Wohlers Inken , Simon Eric , Reinberger Tobias , Busch Hauke , Schaefer Arne S. , Erdmann Jeanette
Published: December 2018

Exploration of genetic variant-to-gene relationships by quantitative trait loci such as expression QTLs is a frequently used tool in genome-wide association studies. However, the wide range of public QTL databases and the lack of batch annotation features complicate a comprehensive annotation of GWAS results. In this work, we introduce the tool “Qtlizer” for annotating lists of variants in human with associated changes in gene expression and protein abundance using an integrated database of published QTLs. Features include incorporation of variants in linkage disequilibrium and reverse search by gene names. Analyzing the database for base pair distances between best significant eQTLs and their affected genes suggests that the commonly used cis-distance limit of 1,000,000 base pairs might be too restrictive, implicating a substantial amount of wrongly and yet undetected eQTLs. We also ranked genes with respect to the maximum number of tissue-specific eQTL studies in which a most significant eQTL signal was consistent. For the top 100 genes we observed the strongest enrichment with housekeeping genes (P=2×10−6) and with the 10% highest expressed genes (P=0.005) after grouping eQTLs by r2>0.95, underlining the relevance of LD information in eQTL analyses. Qtlizer can be accessed via http://genehopper.de/qtlizer or by using the respective Bioconductor R-package (DOI: 10.18129/B9.bioc.Qtlizer).
Sequence learning recodes cortical representations instead of strengthening initial ones
Authors: Kalm Kristjan , Norris Dennis
Published: December 2018

We contrast two computational models of sequence learning. The associative learner posits that learning proceeds by strengthening existing association weights. Alternatively, recoding posits that learning creates new and more efficient representations of the learned sequences. Importantly, both models propose that humans act as optimal learners but capture different statistics of the stimuli in their internal model. Furthermore, these models make dissociable predictions as to how learning changes the neural representation of sequences. We tested these predictions by using fMRI to extract neural activity patters from the dorsal visual processing stream during a sequence recall task. We observed that only the recoding account can explain the similarity of neural activity patterns, suggesting that participants recode the learned sequences using chunks. We show that associative learning can theoretically store only very limited number of overlapping sequences, such as common in ecological working memory tasks, and hence an efficient learner should recode initial sequence representations.
Additive effect of contrast and velocity proves the role of strong excitatory drive in suppression of visual gamma response
Authors: Orekhova E.V. , Prokofyev A.O. , Nikolaeva A.Yu. , Schneiderman J.F. , Stroganova T.A.
Published: December 2018

Visual gamma oscillations are generated through interactions of excitatory and inhibitory neurons and are strongly modulated by sensory input. A moderate increase in excitatory drive to the visual cortex via increasing contrast or motion velocity of drifting gratings results in strengthening of the gamma response (GR). However, increasing the velocity beyond some ‘transition point’ leads to the suppression of the GR. There are two theoretical models that can explain such suppression. The ‘excitatory drive’ model infers that, at high drifting rates, GR suppression is caused by excessive excitation of inhibitory neurons. Since contrast and velocity have an additive effect on excitatory drive, this model predicts that the GR ‘transition point’ for low-contrast gratings would be reached at a higher velocity, as compared to high-contrast gratings. The alternative ‘velocity tuning’ model implies that the GR is maximal when the drifting rate of the grating corresponds to the preferable velocity of the motion-sensitive V1 neurons. This model predicts that lowering contrast either will not affect the transition point or will shift it to a lower drifting rate. We tested these models with magnetoencephalography-based recordings of the GR during presentation of low (50%) and high (100%) contrast gratings drifting at four velocities. We found that lowering contrast led to a highly reliable shift of the GR suppression transition point to higher velocities, thus supporting the excitatory drive model. No effects of contrast or velocity were found for the alpha-beta response power. The results have important implications for the understanding of the neural mechanisms underlying gamma oscillations and the development of gamma-based biomarkers of brain disorders.
Sex Differences in Effects of Obesity on Reproductive Hormones and Glucose Metabolism in Puberty: The Health Influences of Puberty Study
Authors: Nokoff Natalie , Thurston Jessica , Hilkin Allison , Pyle Laura , Zeitler Philip E , Nadeau Kristen , Santoro Nanette , Kelsey Megan
Published: December 2018

Context: Obesity is known to impact reproductive function in adults, but little is known about its effects on reproductive hormones during puberty or sex differences in these effects.
Objective: To assess sex differences in effects of obesity on reproductive hormones and their relationship to insulin sensitivity and secretion.
Design: Cross-sectional study including anthropometrics, serum and urine reproductive hormone concentrations, and intravenous glucose tolerance testing (IVGTT) to assess acute insulin response to glucose (AIRg) and insulin sensitivity (Si).
Setting: Outpatient academic clinical research center.
Patients: Fifty-one normal weight (NW, BMI-Z=-0.11 +/- 0.77, age=11.5 +/- 1.7 years) and 53 obese (BMI-Z=2.22 +/- 0.33, age=10.9 +/- 1.5 years) girls (n=54) and boys (n=50), Tanner stage 2-3.
Results: Obese boys had lower total testosterone (p<0.0001) and higher concentrations of the urinary estradiol metabolite, E1c, (p=0.046) than NW boys. Obese girls had higher free androgen index (FAI, p=0.03) than NW girls. Both obese boys and girls had lower sex hormone-binding globulin (SHBG, p<0.0001) than NW. AIRg was inversely related to SHBG in boys (R2= 0.36, p<0.0001) and girls (R2=0.29, p=0.0001). Insulin resistance correlated with lower SHBG in boys (R2=0.45, p<0.0001) and girls (R2=0.24, p=0.0003), lower total testosterone for boys (R2=0.15, p=0.01), and higher FAI for girls (R2=0.08, p=0.04).
Conclusion: Obese youth have lower SHBG than NW youth, but obesity has differential effects on reproductive hormones in girls vs. boys, which are apparent early in puberty. Ongoing longitudinal studies will evaluate the impact of obesity on reproductive hormones in girls and boys as puberty progresses.
Deep Learning provides exceptional accuracy to ECoG-based Functional Language Mapping for epilepsy surgery
Authors: RaviPrakash Harish , Korostenskaja Milena , Castillo Eduardo M. , Lee Ki H. , Salinas Christine M. , Baumgartner James , Anwar Syed M. , Spampinato Concetto , Bagci Ulas
Published: December 2018

The success of surgical resection in epilepsy patients depends on preserving functionally critical brain regions, while removing pathological tissues. Being the gold standard, electro-cortical stimulation mapping (ESM) helps surgeons in localizing the function of eloquent cortex through electrical stimulation of electrodes placed directly on the cortical brain surface. Due to the potential hazards of ESM, including increased risk of provoked seizures, electrocorticography based functional mapping (ECOG-FM) was introduced as a safer alternative approach. However, ECoG-FM has a low success rate when compared to the ESM. In this study, we address this critical limitation by developing a new algorithm based on deep learning for ECoG-FM and thereby we achieve an accuracy comparable to ESM in identifying eloquent language cortex. In our experiments, with 11 epilepsy patients who underwent presurgical evaluation (through deep learning-based signal analysis on 637 electrodes), our proposed algorithm made an exceptional 23% improvement with respect to the conventional ECoG-FM analysis (∼60%). We obtained the state-of-the-art accuracy of 83.05% in identifying language regions, which has never been achieved before. Our findings have demonstrated, for the first time, that deep learning powered ECoG-FM can serve as a stand-alone modality and avoid likely hazards of the ESM in epilepsy surgery. Hence, reducing the potential for developing post-surgical morbidity in the language function.
Non-random sister chromatid segregation mediates rDNA copy number maintenance in Drosophila
Authors: Watase George J. , Yamashita Yukiko M.
Published: December 2018

Although considered to be exact copies of each other, sister chromatids can segregate non-randomly in some cases. For example, sister chromatids of the X and Y chromosomes segregate non-randomly during asymmetric division of male germline stem cells (GSCs) in D. melanogaster. Here we identify that the ribosomal DNA (rDNA) loci, which are located on the X and Y chromosomes, and an rDNA-binding protein, Indra, are required for non-random sister chromatid segregation (NRSS). We provide the evidence that NRSS is a mechanism by which GSCs recover rDNA copy number, which occurs through unequal sister chromatid exchange, counteracting the spontaneous copy number loss that occurs during aging. Our study reveals an unexpected role for NRSS in maintaining germline immortality through maintenance of a vulnerable genomic element, rDNA.

One Sentence Summary

rDNA copy number maintenance by non-random sister chromatid segregation contributes to germline immortality in Drosophila
Neural correlates of cue-induced changes in decision-making distinguish subjects with gambling disorder from healthy controls
Authors: Genauck Alexander , Matthis Caroline , Andrejevic Milan , Ballon Lukas , Chiarello Francesca , Duecker Katharina , Heinz Andreas , Kathmann Norbert , Romanczuk-Seiferth Nina
Published: December 2018

Background: Just as substance use disorders (SUDs), gambling disorder (GD) is characterized by an increase in cue-dependent decision-making (similar to Pavlovian-to-instrumental transfer, PIT). PIT, as studied in SUDs and healthy subjects, is associated with altered communication between Nucleus Accumbens (NAcc), amygdala, and orbitofrontal cortex (OFC). These neural differences are, however, poorly understood. For example, it is unclear whether they are due to the physiological effects of substance abuse, or rather related to learning processes and/or other etiological factors like innate traits associated with addiction. We have thus investigated whether network activation patterns during a PIT task are also altered in GD, an addictive disorder not involving substance abuse. We have specifically studied which neural PIT patterns were best at distinguishing GD from HC subjects, all to improve our understanding of the neural signatures of GD and of addiction-related PIT in general.
Methods: 30 GD and 30 HC subjects completed an affective decision-making task in a functional magnetic resonance imaging (fMRI) scanner. Gambling associated and other emotional cues were shown in the background during the task, allowing us to record multivariate neural PIT signatures focusing on a network of NAcc, amygdala and OFC. We built and tested a classifier based on these multivariate neural PIT signatures using cross-validated elastic net regression.
Results and Discussion: As expected, GD subjects showed stronger PIT than HC subjects because they showed stronger increase in gamble acceptance when gambling cues were presented in the background. Classification based on neural PIT signatures yielded a significant AUC-ROC (0.70, p = 0.013). When inspecting the features of the classifier, we observed that GD showed stronger PIT-related functional connectivity between NAcc and amygdala elicited by gambling background cues, as well as between amygdala and OFC elicited by negative and positive cues.
Conclusion: We propose that HC and GD subjects are distinguishable by PIT-related neural signatures including amygdala-NAcc-OFC functional connectivity. Our findings suggest that neural PIT alterations in addictive disorders might not depend on the physiological effect of a substance of abuse, but on related learning processes or even innate neural traits, also found in behavioral addictions.
Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk
Authors: McKenna Brooke , Koomar Tanner , Vervier Kevin , Kremsreiter Jamie , Michaelson Jacob J.
Published: December 2018

Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDDs). However, recent studies suggest that only a minority of cases are attributable to de novo mutations, and instead these disorders often result from an accumulation of various forms of genetic risk. Consequently, we adopted an inclusive approach to investigate the genetic risk contributing to a case of male monozygotic twins with ASD and ID. At the time of the study, the probands were 7 yr old and largely nonverbal. Medical records indicated a history of motor delays, sleep difficulties, and significant cognitive deficits. Through whole-genome sequencing of the probands and their parents, we uncovered elevated common polygenic risk, a coding de novo point mutation in CENPE, an ultra-rare homozygous regulatory variant in ANK3, inherited rare variants in NRXN3, and a maternally inherited X-linked deletion situated in a noncoding regulatory region between ZNF81 and ZNF182. Although each of these genes has been directly or indirectly associated with NDDs, evidence suggests that no single variant adequately explains the probands’ phenotype. Instead, we propose that the probands’ condition is due to the confluence of multiple rare variants in the context of a high-risk genetic background. This case emphasizes the multifactorial nature of genetic risk underlying most instances of NDDs and aligns with the “female protective model” of ASD.
Alignment of the aberration-free XUV Raman spectrometer at FLASH
Authors: Biednov Mykola , Brenner Günter , Dicke Benjamin , Weigelt Holger , Keitel Barbara , Rübhausen Michael , Dziarzhytski Siarhei
Published: December 2018

An extreme-ultraviolet (XUV) double-stage Raman spectrometer is permanently installed as an experimental end-station at the PG1 beamline of the soft X-ray/XUV free-electron laser in Hamburg, FLASH. The monochromator stages are designed according to the Czerny–Turner optical scheme, adapted for the XUV photon energy range, with optical elements installed at grazing-incidence angles. Such an optical scheme along with the usage of off-axis parabolic mirrors for light collimation and focusing allows for aberration-free spectral imaging on the optical axis. Combining the two monochromators in additive dispersion mode allows for reaching high resolution and superior stray light rejection, but puts high demands on the quality of the optical alignment. In order to align the instrument with the highest precision and to quantitatively characterize the instrument performance and thus the quality of the alignment, optical laser interferometry, Hartmann–Shack wavefront-sensing measurements as well as off-line soft X-ray measurements and extensive optical simulations were conducted. In this paper the concept of the alignment scheme and the procedure of the internal optical alignment are presented. Furthermore, results on the imaging quality and resolution of the first monochromator stage are shown.
Digital trade in Latin America: mapping issues and approaches
Authors: Aguerre Carolina
Published: December 2018

Purpose

In Latin America, digital trade is still a marginal issue in the internet policy and governance debate, as well as in the trade regime. However, there are signs that this is beginning to change. This paper aims to discuss why this is changing and how, against the backdrop of the internet governance field.

Design/methodology/approach

The research has used a mixed methods approach based on interviews and participant observation in one regional process, as well as an extensive literature review and document analysis.

Findings

There is a current scenario for expanding the digital trade agenda in the regional commercial blocs with the aim of rapidly incorporating them to a process of digitization that will be challenging their economic foundations. The tangibility of the impact of the expanding digital economy is much more prevalent than other internet governance debates, and these initiatives seem to be adopting a pragmatic approach, rather than questioning the existing rules that govern the trade and the internet regimes. There are significant challenges emerging from a fragmented institutional background for trade-related policy in the region and the digital single market might be one of the solutions. Finally, domestic coordination among competing laws regarding data protection and their enforcement without conflicting with cross border data flows will be a challenge to be addressed.

Originality/value

There is a lack of evidence-based research on the subject in the region. Many of the accounts stem from normative perspectives (many from scholars with legal backgrounds). This paper explores the connections between the internet governance regime and the emerging digital trade based on existing policies and processes.
Towards a new web of rules
Authors: Wright Chris F. , Wood Alex J. , Trevor Jonathan , McLaughlin Colm , Huang Wei , Harney Brian , Geelan Torsten , Colfer Barry , Chang Cheng , Brown William
Published: December 2018

Purpose

The purpose of this paper is to review “institutional experimentation” for protecting workers in response to the contraction of the standard employment relationship and the corresponding rise of “non-standard” forms of paid work.

Design/methodology/approach

The paper draws on the existing research and knowledge base of the authors as well as a thorough review of the extant literature relating to: non-standard employment contracts; sources of labour supply engaging in non-standard work; exogenous pressures on the employment relationship; intermediaries that separate the management from the control of labour; and entities that subvert the employment relationship.

Findings

Post-war industrial relations scholars characterised the traditional regulatory model of collective bargaining and the standard employment contract as a “web of rules”. As work relations have become more market mediated, new institutional arrangements have developed to govern these relations and regulate the terms of engagement. The paper argues that these are indicative of an emergent “patchwork of rules” which are instructive for scholars, policymakers, workers’ representatives and employers seeking solutions to the contraction of the traditional regulatory model.

Research limitations/implications

While the review of the institutional experimentation is potentially instructive for developing solutions to gaps in labour regulation, a drawback of this approach is that there are limits to the realisation of policy transfer. Some of the initiatives discussed in the paper may be more effective than others for protecting workers on non-standard contracts, but further research is necessary to test their effectiveness including in different contexts.

Social implications

The findings indicate that a task ahead for the representatives of government, labour and business is to determine how to adapt the emergent patchwork of rules to protect workers from the new vulnerabilities created by, for example, employer extraction and exploitation of their individual bio data, social media data and, not far off, their personal genome sequence.

Originality/value

The paper addresses calls to examine the “institutional intersections” that have informed the changing ways that work is conducted and regulated. These intersections transcend international, national, sectoral and local units of analysis, as well as supply chains, fissured organisational dynamics, intermediaries and online platforms. The analysis also encompasses the broad range of stakeholders including businesses, labour and community groups, nongovernmental organisations and online communities that have influenced changing institutional approaches to employment protection.
Multi-energy combined peak dispatching system synthetic benefit evaluation based on variable weight theory and matter-element extension model
Authors: Song Zongyun , Zhang Jian , Xiao XInli , Niu Dongxiao
Published: December 2018

Purpose

To improve power system peak dispatching ability, connecting energy-storage device such as electric vehicle (EV) and regenerative electric heater (REH) to power grid is a good choice.

Design/methodology/approach

This paper establishes a multi-energy combined peak dispatching system MCPDS which includes EV, REH and wind power. The matter-element extension model based on improved variable weight theory is applied to evaluate MCPDS synthetic benefit.

Findings

The research shows that the MCPDS established in this paper performs excellently in security benefit, economic benefit, social benefit and environmental benefit.

Originality/value

With the assistance of energy storage devices such as EV and REH, the electrical system peak dispatching ability and power system operation efficiency has improved. More devices with energy-storage ability should be introduced into electrical power system to improve its synthetic benefit.
Role of organizational career websites for employer brand development
Authors: Gunesh Priya , Maheshwari Vishwas
Published: December 2018

Purpose

The paper aims to demonstrate the utilization of banks’ career website for publicizing the employer branding strategy to enable effective strategic talent relationship management through talent attraction, engagement and retention.

Design/methodology/approach

A qualitative approach using purposive sample comprising HR professionals involving HR directors, reward managers and talent relationship managers, participated in semi-structured interviews.

Findings

This paper provides empirical insights on the use of career websites to disseminate the employer brand. The findings reveal the presence of recruitment orientation career websites across the banking sector. It also conveys HR practitioners’ suggestions for revamping the banks’ career websites to a more screening orientation approach for greater interactivity by both the internal and external talent pools.

Research limitations/implications

The paper depicts the importance attributed around the utilization of career websites in promoting the employer brand by the HR community across the banking sector. It provides clear insights about the specific contents of career websites to enable sustainable talent attraction, engagement and retention.

Originality/value

This paper provides a qualitative insight to the study of employer branding and career websites. Whereas most previous research on career websites have been of a quantitative nature relying predominantly on fictitious websites, having mostly undergraduate students as research participants. This study contributes enormously to the existing literature and practice by unveiling the perceptions of HR professionals on the dissemination of the employer brand through the career website.
Determinants of Shari’ah
governance disclosure in financial institutions
Authors: Azid Toseef , Alnodel Ali A.
Published: December 2018

Purpose

This paper aims to investigate factors influencing
Shari’ah governance disclosure (SGD) in
financial institutions.

Design/methodology/approach

Using content analysis approach, 46 annual reports published in 2015 by banks
and insurance companies were investigated based on a self-constructed
disclosure index.

Findings

The results show that the average level of voluntary disclosure of
Shari’ah governance in Saudi financial
institutions is 11.7 per cent, which is lower than expectations Moreover,
regression analysis shows that industry type, ownership structure and board
composition significantly determine the extent of voluntary disclosure of
Shari’ah governance. Local financial
institutions which are owned by non-governmental agencies are more likely to
disclose voluntarily their Shari’ah governance, in
particular from the banking industry.

Research
limitations/implications

It also bridges the gap between theory and practice and can be used to
practice economic and commercial impact in teaching to influence public
policy in research contributing to the body of knowledge and especially for
the insurance sector and government.

Social implications

It provides guidance to the ethical investors and supports them in the
decision-making process.

Originality/value

This research extends the investigation of SGD into insurance sector in a
country that has a general policy about adhering to Islamic principles.
Financial institutions might go beyond the country affirmations to
legitimate their identity in response to the society critiques about the
issue. Accordingly, internal attributes and strategies of financial
institutions may play a significant role in distinguishing its compliance
with Islamic principles to respond to the society critiques about financial
transactions.
Determining a conceptual framework for safe and sustainable health-care waste management (SSHCWM) implementation in health-care facilities
Authors: Baaki Timothy Kurannen , Baharum Mohamad Rizal , Ali Azlan Shah
Published: December 2018

Purpose

This paper aims to explore current sustainable facilities management knowledge and practice, focussing specifically on sustainable waste management implementation in health-care facilities with an aim to conceptualize a framework for assessing performance and impact of successful implementation of safe and sustainable health-care waste management on health-care provision.

Design/methodology/approach

This paper used a review of existing literature in relation to health-care waste management in the context of sustainable facilities management and facilities management performance and forms a basis for further research.

Findings

The growing significance of the strategic role of facilities management is established. Building on this recognition, a conceptual framework for assessing both implementation of sustainable facilities management practice in the context of waste management in health-care facilities and its impact on health-care provision is proposed.

Originality/value

This paper conceptualizes a framework for optimizing safe and sustainable waste management implementation in health-care facilities and assessing its impact on the bottom-line of health-care provision.
Distance is not a barrier: the use of videoconferencing to develop a community of practice
Authors: Page Ruairi , Hynes Fiona , Reed James
Published: December 2018

Purpose

The purpose of this paper is to describe the use of videoconferencing to deliver a post-graduate education programme in forensic mental services by video-conference across three sites in a large urban centre and develop a forensic community of practice.

Design/methodology/approach

This paper describes the setting up of the programme, equipment used, the challenges and evaluation of a teaching programme delivered using technology-enhanced education.

Findings

This forward thinking mechanism of delivery of education has propelled multi-disciplinary and multi-site discussion with the formation of a community of practice.

Research limitations/implications

Additional skills are demanded of clinicians including familiarisation with the equipment and an awareness of the restrictions in communication using videoconferencing.

Practical implications

The use of technology has facilitated delivery of a learning programme within our services. Practical benefits are readily evident with increased accessibility, cost and travel savings.

Social implications

The greatest benefit has been the development of a virtual community allowing peer support, an extended peer review and network development.

Originality/value

The paper describes use of technology to support delivery of a post-graduate forensic mental health training programme.
How financial literacy and demographic variables relate to behavioral biases
Authors: Baker H. Kent , Kumar Satish , Goyal Nisha , Gaur Vidhu
Published: December 2018

Purpose

The purpose of this paper is to examine how financial literacy and demographic variables (gender, age, income level, education, occupation, marital status and investment experience) related to behavioral biases.

Design/methodology/approach

The study uses one-way analysis of variance (ANOVA), factor analysis and multiple regression analysis to examine survey data from more than 500 individual investors in India.

Findings

The results reveal the presence of different behavioral biases including overconfidence and self-attribution, the disposition effect, anchoring bias, representativeness, mental accounting, emotional biases and herding among Indian investors. Hence, the findings support the view that individual investors do not always act rationally. The results also show that financial literacy has a negative association with the disposition effect and herding bias, a positive relation with mental accounting bias, but no significant relation with overconfidence and emotional biases. Age, occupation and investment experience are the most important demographic variables that relate to the behavioral biases of individual investors in the sample. Regarding gender, males are more overconfident than are females about their knowledge of the stock market.

Research limitations/implications

The study does not test for causality, only association between the variables. Thus, the findings in this study should not be interpreted as suggesting causality. The study may have implications for financial educators in promoting the financial awareness programs for individuals. Financial advisors can potentially become more effective by understanding their clients’ decision-making processes.

Originality/value

Despite an extensive literature on behavioral finance, limited academic research attempts to unravel the relation of how financial literacy and demographic variates relate to behavioral biases. This study contributes to this literature by trying to fill this gap.
Investigating the relationships among team emotional intelligence, trust, conflict and team performance
Authors: Rezvani Azadeh , Barrett Rowena , Khosravi Pouria
Published: December 2018

Purpose

The purpose of the study is to enhance understanding of the relationships among team emotional intelligence (EI), trust in team, conflict in team and team performance.

Design/methodology/approach

A sample of 389 team members from 84 project teams in large-scale construction projects was surveyed.

Findings

Findings showed that team EI is positively associated with team performance. In addition, trust and conflict in the team mediate the association between team EI and team performance.

Practical implications

The ability to perceive one’s own and others’ emotions significantly increases the likelihood of team performance by increasing trust in a team and reducing conflict. Therefore, managers can use these findings to boost team performance and reduce conflict in their teams.

Originality/value

This research contributes to the better understanding of the relationship between team EI and team performance in large-scale construction projects. In addition, this research is an empirical investigation into the mediation variables linking EI to team performance.