bluuebunny/crossref_metadata_2025 huggingface dataset:
Genomic prediction with allele dosage information in highly polyploid species
Authors: Batista Lorena , Mello Victor H , de Souza Anete Pereira , Margarido Gabriel RA
Published: June 2021

Several studies have shown how to leverage allele dosage information to improve the accuracy of genomic selection models in autotetraploids. In this study we expanded the methodology used for genomic selection in autotetraploids to higher (and mixed) ploidy levels. We adapted the models to build covariance matrices of both additive and digenic dominance effects that are subsequently used in genomic selection models. We applied these models using estimates of ploidy and allele dosage to sugarcane and sweet potato datasets and validated our results by also applying the models in simulated data. For the simulated datasets, including allele dosage information led up to 140% higher mean predictive abilities in comparison to using diploidized markers. Including dominance effects was highly advantageous when using diploidized markers, leading to mean predictive abilities which were up to 115% higher in comparison to only including additive effects. When the frequency of heterozygous genotypes in the population was low, such as in the sugarcane and sweet potato datasets, there was little advantage in including allele dosage information in the models. Overall, we show that including allele dosage can improve genomic selection in highly polyploid species under higher frequency of different heterozygous genotypic classes and high dominance degree levels.
Human DC3 Antigen Presenting Dendritic Cells from Induced Pluripotent Stem Cells
Authors: Satoh Taiki , Toledo Marcelo A. S. , Boehnke Janik , Olschok Kathrin , Flosdorf Niclas , Götz Katrin , Küstermann Caroline , Sontag Stephanie , Seré Kristin , Koschmieder Steffen , Brümmendorf Tim H. , Chatain Nicolas , Tagawa Yoh-ichi , Zenke Martin
Published: June 2021

Dendritic cells (DC) are professional antigen-presenting cells that develop from hematopoietic stem cells. Different DC subsets exist based on ontogeny, location and function, including the recently identified proinflammatory DC3 subset. DC3 have the prominent activity to polarize CD8+ T cells into CD8+ CD103+ tissue resident T cells. Here we describe human DC3 differentiated from induced pluripotent stem cells (iPS cells). iPS cell-derived DC3 have the gene expression and surface marker make-up of blood DC3 and polarize CD8+ T cells into CD8+ CD103+ tissue-resident memory T cells in vitro. To test the impact of malignant JAK2 V617F mutation on DC3, we differentiated patient-specific iPS cells with JAK2 V617Fhet and JAK2 V617Fhom mutations into JAK2 V617Fhet and JAK2 V617Fhom DC3. The JAK2 V617F mutation enhanced DC3 production and caused a bias towards erythrocytes and megakaryocytes. The patient-specific iPS cell-derived DC3 are expected to allow studying DC3 in human diseases and developing novel therapeutics.

Graphical Abstract
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
Authors: Domingo Aloysius , Yadav Rachita , Shah Shivangi , Hendriks William T. , Erdin Serkan , Gao Dadi , O’Keefe Kathryn , Currall Benjamin , Gusella James F. , Sharma Nutan , Ozelius Laurie J. , Ehrlich Michelle E. , Talkowski Michael E. , Cristopher Bragg D.
Published: June 2021

Dystonia is a neurologic disorder associated with an increasingly large number of variants in many genes, resulting in characteristic disturbances in volitional movement. Dissecting the relationships between these mutations and their functional outcomes is a critical step in understanding the key pathways that drive dystonia pathogenesis. Here we established a pipeline for characterizing an allelic series of dystonia-specific mutations in isogenic induced pluripotent stem cells (iPSCs). We used this strategy to investigate the molecular consequences of variation in THAP1, which encodes a transcription factor that has been linked to neural differentiation. Multiple pathogenic mutations that have been associated with dystonia cluster within distinct THAP1 functional domains and are predicted to alter its DNA binding properties and/or protein interactions differently, yet the relative impact of these varied changes on molecular signatures and neural deficits is unclear. To determine the effects of these mutations on THAP1 transcriptional activity, we engineered an allelic series of eight mutations in a common iPSC background and differentiated these lines into a panel of near-isogenic neural stem cells (n = 94 lines). Transcriptome profiling of these neural derivatives followed by joint analysis of the most robust individual signatures across mutations identified a convergent pattern of dysregulated genes functionally related to neurodevelopment, lysosomal lipid metabolism, and myelin. Based on these observations, we examined mice bearing Thap1-disruptive alleles and detected significant changes in myelin gene expression and reduction of myelin structural integrity relative to tissue from control mice. These results suggest that deficits in neurodevelopment and myelination are common consequences of dystonia-associated THAP1 mutations and highlight the potential role of neuron-glial interactions in the pathogenesis of dystonia.
Hyperactive WNT/CTNNB1 signaling induces a competing cell proliferation and epidermal differentiation response in the mouse mammary epithelium
Authors: Mourao Larissa , Zeeman Amber L. , Wiese Katrin E. , Bongaarts Anika , Oudejans Lieve L. , Martinez Isabel Mora , van de Grift Yorick B.C. , Jonkers Jos , van Amerongen Renée
Published: June 2021

In the past forty years, the WNT/CTNNB1 signaling pathway has emerged as a key player in mammary gland development and homeostasis. While also evidently involved in breast cancer, much unclarity continues to surround its precise role in mammary tumor formation and progression. This is largely due to the fact that the specific and direct effects of hyperactive WNT/CTNNB1 signaling on the mammary epithelium remain unknown. Here we use a primary mouse mammary organoid culture system to close this fundamental knowledge gap. We show that hyperactive WNT/CTNNB1 signaling induces competing cell proliferation and differentiation responses. While proliferation is dominant at lower levels of WNT/CTNNB1 signaling activity, higher levels cause reprogramming towards an epidermal cell fate. We show that this involves de novo activation of the epidermal differentiation cluster (EDC) locus and we identify master regulatory transcription factors that likely control the process. This is the first time that the molecular and cellular dose-response effects of WNT/CTNNB1 signaling in the mammary epithelium have been dissected in such detail. Our analyses reveal that the mammary epithelium is exquisitely sensitive to small changes in WNT/CTNNB1 signaling and offer a mechanistic explanation for the squamous differentiation that is observed in some WNT/CTNNB1 driven tumors.
On the α-connections and the α-conformal equivalence on statistical manifolds
Authors: Addad Khadidja , Ouakkas Seddik
Published: June 2021

Purpose

In this paper, we give some properties of the α-connections on statistical manifolds and we study the α-conformal equivalence where we develop an expression of curvature R¯ for ∇¯ in relation to those for ∇ and ∇^.

Design/methodology/approach

In the first section of this paper, we prove some results about the α-connections of a statistical manifold where we give some properties of the difference tensor K and we determine a relation between the curvature tensors; this relation is a generalization of the results obtained in [1]. In the second section, we introduce the notion of α-conformal equivalence of statistical manifolds treated in [1, 3], and we construct some examples.

Findings

We give some properties of the difference tensor K and we determine a relation between the curvature tensors; this relation is a generalization of the results obtained in [1]. In the second section, we introduce the notion of α-conformal equivalence of statistical manifolds, we give the relations between curvature tensors and we construct some examples.

Originality/value

We give some properties of the difference tensor K and we determine a relation between the curvature tensors; this relation is a generalization of the results obtained in [1]. In the second section, we introduce the notion of α-conformal equivalence of statistical manifolds, we give the relations between curvature tensors and we construct some examples.
Forecasting uncertainty: Cindy March at Veracity
Authors: Erath Alexandra
Published: June 2021

Study level/applicability

This case is appropriate for use in undergraduate and MBA courses.

Subject area

This case can be used in courses in business ethics, leading teams and organizations or business strategy. The focus of the case aligns well with discussions of managing up, navigating changes in top leadership and conflicts between executive vision and future company growth. Instructors that choose to emphasize the ethical approach could assign this case to explore tradeoffs between loyalty to current and future bosses.

Case overview

Associate Director of Forecasting Cindy March faces a multi-faceted dilemma as biotech firm Veracity’s acquisition date by pharmaceutical giant Makhola approaches. After a new competitor enters the market, March expects Veracity drug Sangren’s future revenue to drop to $600m in 2019, but the outgoing Veracity CEO refuses to accept a forecast of less than $700m. March suspects that the CEO is intent on handing over a financially successful company and is overly optimistic about Sangren’s ability to maintain market share. In two weeks, March is due to present a 2019 Sangren forecast to incoming Makhola leadership, who she anticipates becoming her direct boss after the acquisition. Should March present the inflated forecasts and accept the poor reflection on her professional abilities or should she refuse to present numbers she does not believe in?

Expected learning outcomes

By analyzing and discussing the case, students should be able to:Evaluate the potential business and ethical conflicts arising from decision-making based on both data and intuition. Synthesize an appropriate strategy for navigating tradeoffs between current and future leadership.Analyze the gender dynamics of male-dominated executive leadership structures and strategies for female employees to combat gender biases.

Supplementary materials

The Behavioral Science Guys, 2015. One Simple Skill to Curb Unconscious Gender Bias. YouTube. https://www.youtube.com/watch?v=SEHi4yauhu8&ab_channel=VitalSmartsVideoTeaching Notes are available for educators only. Please contact your library to gain login details or email support@emeraldinsight.com to request teaching notes.

Subject code

CSS 6: Human resources.
The smart, sustainable neighborhood
Authors: Myers Robert
Published: June 2021

Study level/applicability

Applicable to both undergraduate and graduate courses in managing technology or sustainability.

Subject area

Technology strategy.

Business Model evaluation.

Sustainable technologies.

Case overview

In this case study, gas and electric utility holding company Southern Company has embarked on an ambitious experiment to learn more about energy usage at a household level, as well as community scale microgrids. Every minute, 62 homes in Reynolds Landing upload appliance and electrical outlet level data to Southern Company. How can Southern Company use this vast amount of data to promote energy efficiency? Are microgrids a key to creating a more sustainable and resilient energy future? At a higher level, how can microgrids impact or change traditional power generation business models like those used by Southern Company?

Expected learning outcomes

1. To explore why companies develop technologies that are counter to current business models.

2. To understand how new technology can lead to new business models for existing businesses.

3. To understand the drivers of company led R&D.

4. To discuss “technology push” applications. Where technology is developed and then a market or markets are sought.

Supplementary materials

Teaching notes are available for educators only. Please contact your library to gain login details or email support@emeraldinsight.com to request teaching notes.

Social implications

Two parts here. The first is looking at sustainable energy solutions such as solar farms and micro-grids. The second is this case challenges students to ask how this research helps the 45% of consumers making less than $40,000/yr.

Subject code

CSS 11: Strategy.
Post acquisition brand identity: acquisition of Flipkart group by Walmart Inc.
Authors: Amawate Vibhas , Deb Madhurima
Published: June 2021

Learning outcomes

The learning outcomes are as follows: factors to be considered in devising the best post-acquisition brand identity and outline market research techniques, which can be used to identify the best-suited post-acquisition brand identity strategy.

Case overview/synopsis

The case study discusses the brand strategy, which Walmart Inc needs to adopt post its acquisition of Flipkart Pvt. Ltd (Flipkart) Group in India. Flipkart had acquired Myntra Designs Pvt. Ltd (Myntra) and Novarris Fashion Trading Private Limited (Jabong), but had kept their brand identity intact; Walmart Inc was faced with the decision on moving ahead with the brand strategy of keeping individual brand identities or merging all of these into a single brand identity. The study aims to provide valuable insights into the decision-making process adopted by Walmart Inc. It includes also the role of cause-related marketing in the positioning of Myntra as a socially responsible brand. The case study opted for an exploratory research design study using the qualitative research method of in-depth interviews. In total, 10 experts in the area of marketing, market research and marketing communication were interviewed. The qualitative data were analyzed using a template approach, which analyzes the text using a codebook or an analysis guide. The analysis guide already has clearly defined themes or categories. As the qualitative interviews progress, these themes get revised. These themes are analyzed qualitatively rather than statistically. The case study suggests to the management of Walmart Inc that they need to merge Myntra and Jabong based on the degree of similarity of consumer demographics, income/social class of buyers, brand identity and buying behavior. Myntra needs to retain as opposed to Jabong, as Myntra is perceived to be a socially responsible brand that creates a purchase disposition in the minds of the consumers. A more extensive quantitative study would offer better generalizability. It was not feasible to conduct a quantitative study due to time constraints. This research would have used advanced brand imagery assessment techniques such as multi-dimensional scaling to suggest if an overlap exists between consumer segments of Myntra and Jabong. The case study provides a decision-making framework to firms and individuals who are part of organizational teams to create a post-acquisition brand strategy in the e-commerce market. The case study fulfills a need for many academicians and practitioners to understand the decision-making process followed in devising a post-acquisition brand strategy in India.

Complexity academic level

Senior undergraduates; Master of Business Administration; Executive Master of Business Administration.

Supplementary materials

Teaching Notes are available for educators only.

Subject code

CSS 8: Marketing.
Service-learning to foster microenterprise development in Mexico
Authors: Mungaray-Lagarda Alejandro , Osorio-Novela Germán , Ramírez-Angulo Natanael
Published: June 2021

Purpose

This paper presents a university service-learning program as an innovative model of assistance to deliver business development services to Mexican microenterprises.

Design/methodology/approach

The main objectives were to deliver business development services in situ at no cost to unprivileged enterprises, conduct research on microenterprises development and build up a service-learning model of teaching and learning for students in the field of economics and surrounding disciplines. It was implemented by the Autonomous University of Baja California. It plays an important role in providing real cases and concepts on business, economics, markets and fiscal regulations. The service-learning approach prepare to students to be generous, selfless, problem solvers and job creators.

Findings

The experience demonstrates that program can play a key role, both in supporting disadvantaged microenterprises and in providing meaningful learning experiences to students. The program has shown its ability to take advantage of institutional, human and financial resources already released to higher educations institutions (HEI) and government, to support social business extensively, as to make less critical the use of resources in the form of subsidies.

Originality/value

This program was employed by the Mexican State Government of Baja California as a compensatory public policy against the unemployment burden created by the global crisis between 2009 and 2013. About ten thousand individuals pushed to necessity-driven entrepreneurship or informal social enterprises were assisted, trained and formalized in the tax authority by 700 university senior students.
Using action research in innovation project management: building legitimacy and organizational learning in an SME during a merger process
Authors: Kampf Constance Elizabeth , Brandt Charlotte J. , Kampf Christopher G.
Published: June 2021

Purpose

The purpose is to explore how the process of action research (AR) can support building legitimacy and organizational learning in innovation project management and portfolio practices in merger contexts.

Design/methodology/approach

Meta-reflection on method issues in Action Research through an action research case study with an innovation group during an organizational change process. This case demonstrates an example of an action research cycle focused on building practitioner legitimacy rather than problem-solving.

Findings

Key findings include (1) demonstrating how AR can be used for building legitimacy through visualizing the innovation process, and embedding those visuals in top management practices of the organization; and (2) demonstrating how AR can work as an organizational learning tool in merger contexts.

Research limitations/implications

This study focuses on an action research cooperation during a two-and-a-half-year period. Thus, findings offer the depth of a medium term case study. The processes of building legitimacy represent this particular case, and can be investigated in other organizational contexts to see the extent to which these issues can be generalized.

Practical implications

For researchers, this paper offers an additional type of AR cycle to consider in their research design which can be seen as demonstrating a form of interplay between practitioner action and organizational level legitimacy. For practitioners, this paper demonstrates a connection between legitimacy and organizational learning in innovation contexts. The discussion of how visuals were co-created and used for building legitimacy for an innovation process that differs from the standard stage gate model demonstrates how engaging in AR research can contribute to developing visuals as resources for building legitimacy and organizational learning based on connections between theory and practice.

Originality/value

This case rethinks AR practice for innovation project management contexts to include legitimacy and organizational learning. This focus on legitimacy building from organizational learning and knowledge conversion contributes to our understanding of the soft side of innovation project management. Legitimacy is demonstrated to be a key concern for innovation project management practices.
Exploring panic buying behavior during the COVID-19 pandemic: a developing country perspective
Authors: Singh Gurmeet , Aiyub Asheefa Shaheen , Greig Tuma , Naidu Samantha , Sewak Aarti , Sharma Shavneet
Published: June 2021

Purpose

This paper aims to identify factors that influence customers' panic buying behavior during the COVID-19 pandemic.

Design/methodology/approach

A self-administered questionnaire was distributed to 357 participants in Fiji, and structural equation modeling to analyze the collected data.

Findings

Results indicate that expected personal outcomes is positively associated with customers' attitudes while expected community-related outcomes negatively impact customers' attitudes. Factors such as attitude, subjective norms, scarcity, time pressure and perceived competition were found to positively influence customers' panic buying intention. Furthermore, scarcity and time pressure were confirmed to positively influence perceived competitiveness while perceived social detection risk negatively influences customer's panic buying intention.

Practical implications

The findings highlight the need for better measures to ensure that every customer has access to goods and services and is not deprived of such necessities in times of a crisis. These results will assist store managers and policymakers in introducing better management, social policies and resource utilization mechanisms to mitigate panic buying during the pandemic.

Originality/value

This study's findings contribute to the literature on customer's panic buying behavior during a global pandemic. Research in this area remain scarce, inconsistent and inconclusive. Novel insights are generated as this study is the first to combine the theory of planned behavior, privacy calculus theory and protection motivation theory. Applying these theories allows new relationships to be tested to better understand customer behavior during a global pandemic. With most studies on customer behavior during crises and disasters in developed countries, this study generates new insights by exploring customer behavior in a developing country.
Happiness at work: a multi-criteria decision-making approach
Authors: Dahiya Rinki , Raghuvanshi Juhi
Published: June 2021

Purpose

Researchers have strived to identify the factors enhancing happiness at work (HAW), and the causal relations among the enablers of happiness remained underexplored. Therefore, this study aims to map and prioritize the causal relation structures of enablers of HAW.

Design/methodology/approach

Data were collected from key representatives of information technology (IT) firms located in India. A framework based on the cause and effect relationship among enablers of HAW is proposed, and to establish this causality, the decision-making trial and evaluation laboratory (DEMATEL) technique was applied.

Findings

The findings indicate five out of 12 enablers as causal, namely, transformational leadership, authentizotic work climate, person–organization work fit, organizational virtuousness and meaningfulness in work.

Originality/value

Human resource managers, organizational policymakers and scholars will gain greater understanding through this causal framework of enablers of HAW. Knowledge and facilitation of these enablers will aid in nurturing a happy workplace.
Less-known supporters of workplace democracy
Authors: Ellerman David , Gonza Tej
Published: June 2021

This paper collects together quotations and extracts from 19th and 20th century thinkers who were little-known for being supporters of workplace democracy.
The coming-of-age of tourism: embracing new economic models
Authors: Sheldon Pauline J.
Published: June 2021

Purpose

The purpose of this paper is to re-examine the economic models and assumptions that have given rise to current day tourism. It suggests alternate models based on new values to help tourism emerge from the current COVID crisis and “come-of-age.”

Design/methodology/approach

The paper delineates the assumptions of neoliberal economics upon which much of tourism has been based. It then summarizes the work of progressive economists in developing new models that value capital other than financial. Six of these models are briefly described and applied to tourism.

Findings

Some assumptions underlying the neoliberal economic model that need re-examining are the ideas that: self-interest drives ideal economic behavior; success comes from competition, not cooperation; encouraging consumption for its own sake; giving owners priority over other stakeholders; and more income translates into more happiness. Redesign of economic systems requires consideration of social capital, natural capital, intellectual capital, compassion capital, trust capital and spiritual capital to name a few. Examples of alternate systems using these capitals are the collaborative economy, the circular economy, the creative economy, the gift economy, the sacred economy and the regenerative economy.

Originality/value

The paper’s approach is to interlace modern economic thought with the future maturation of tourism and to suggest that tourism policymakers and leaders learn from these thinkers to create a new model for the future of tourism.
Design guidelines to mitigate distortion in material jetting specimens
Authors: Kardel Kamran , Khoshkhoo Ali , Carrano Andres L.
Published: June 2021

Purpose

The purpose of this paper is to investigate the effects of layer thickness, aspect ratio, part thickness and build orientation on distortion to have a better understanding of its behavior in material jetting technology.

Design/methodology/approach

Specimens with two layer thicknesses (14 and 28 µm) were printed in two aspect ratios (2:1) and (10:1), four thickness values (1, 2, 3 and 4 mm) and three build orientations (45d, XY and YX) and scanned with a wide-area 3D surface scanner to quantify distortion. The material used to build the test specimens was a commercially available resin, VeroWhitePlus RGD835.

Findings

The results of this study showed that all printed specimens by material jetting 3D printers had some level of distortion. The 1-mm thickness specimens, for both layer thicknesses of 14 µm and 28 µm, showed a wide range of anomalies including reverse coil set (RCS), reverse cross bow (RCB), cross bow (CB), wavy edge (WE) and some moderate twisting (T). Similar occurrences were observed for the 2-mm thickness specimens as there were RCS, WE, RCB and T anomalies that show the difference between the thinner specimens (1- and 2-mm) with the thicker ones (3- and 4-mm). In both 3- and 4-mm thickness specimens, there was more consistency in terms of distortion with mainly RCS and RCB anomalies. In total, six different types of flatness anomalies were found to occur with the following incidences: reverse coil set (91 specimens, 63.19%), reverse cross bow (50 specimens, 34.72%), wavy edge (23 specimens, 15.97%), twist (19 specimens, 12.50%), coil set (11 specimens, 7.64%) and cross bow (7 specimens, 4.86%).

Originality/value

This study expands the research on how the preprocess parameters such as layer thickness and build orientation and the geometrical parameters such as part thickness and aspect ratio cause dimensional distortion. Distortion is a pervasive consequence of the curing process in photopolymerization and explores one of the most common defects that come across in polymeric-based additive manufacturing. In addition to the characterization of the type and magnitude of distortion, the contributions of this work also include establishing the foundation for design guidelines aiming at minimizing distortion in material jetting.
Does financial development matter for domestic investment? Empirical evidence from India
Authors: Sinha Niharika , Shastri Swati
Published: June 2021

Purpose

This paper empirically examines the impact of financial development on domestic investment in India for the period 1989–2017.

Design/methodology/approach

This study employs the autoregressive distributed lag (ARDL) bounds testing approach to co-integration to test the long-run relationship between financial development and domestic investment. To test the direction of causality, Toda–Yamamoto causality test and vector error correction model (VECM) Granger causality/Block Exogeneity Wald test have been employed. Investment has been measured by Gross Capital Formation. To capture various aspects of financial development in India, eight alternative indicators (both bank based and market based) have been used. With the help selected indicators, a composite index (FINDEX) of financial development has been constructed using principal component analysis (PCA).

Findings

The estimated result finds evidence in favour of positive, short-run and long-run impact of financial development on investment in the Indian economy. Both bank-based and market-based indicators are found to significantly affect the level of investment. The significant effect of efficiency-based financial development indicators (both bank based and market based) upon domestic investment implies that there is a need to implement policies that ensure the efficiency of financial intermediation.

Originality/value

To the best of authors' knowledge, not much research has been done to explore the relationship between financial development and domestic investment, especially in the case of Indian economy. This study also tries to find the impact of bank-based and market-based financial development indicators upon domestic investment to explore banks vs market issue.
Hilbert transform and spectral kurtosis based approach in identifying the health state of retrofitted old steel truss bridge
Authors: Sharma Anshul , Kumar Pardeep , Vinayak Hemant Kumar , Walia Suresh Kumar , Patel Raj Kumar
Published: June 2021

Purpose

This study aims to include the diagnosis of an old concrete deck steel truss rural road bridge in the damaged and retrofitted state through vibration response signals.

Design/methodology/approach

The analysis of the vibration response signals is performed in time and time-frequency domains using statistical features-root mean square, impulse factor, crest factor, kurtosis, peak2peak and Stockwell transform. The proposed methodology uses the Hilbert transform in combination with spectral kurtosis and bandpass filtering technique for obtaining robust outcomes of modal frequencies.

Findings

The absence or low amplitude of considered mode shape frequencies is observed both before and after retrofitting of bridge indicates the deficient nodes. The kurtosis feature among all statistical approaches is able to reflect significant variation in the amplitude of different nodes of the bridge. The Stockwell transform showed better resolution of present modal frequencies but due to the yield of additional frequency peaks in the vicinity of the first three analytical modal frequencies no decisive conclusions are achieved. The methodology shows promising outcomes in eliminating noise and visualizing distinct modal frequencies of a steel truss bridge.

Social implications

The findings of the present study help in analyzing noisy vibration signals obtained from various structures (civil or mechanical) and determine vulnerable locations of the structure using mode shape frequencies.

Originality/value

The literature review gave an insight into few experimental investigations related to the combined application of Hilbert transform with spectral kurtosis and bandpass filtering technique in determining mode frequencies of a steel truss bridge.
Novel pathogenic variants in the RECQL4 gene causing Rothmund‐Thomson syndrome in three Chinese patients
Authors: Zhang Yingzi , Qin Wen , Wang Huijun , Lin Zhimiao , Tang Zhanli , Xu Zhe
Published: June 2021

Rothmund–Thomson syndrome (RTS) is a rare autosomal‐recessive disorder characterized by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer predisposition. Mutations in ANAPC1 or RECQL4 have been identified to underlie RTS. Either Sanger sequencing or next‐generation sequencing (NGS) was performed for three Chinese RTS patients. Copy number variants were called by the eXome‐Hidden Markov Model using read‐depth data of NGS, and the putative heterozygous deletion was confirmed by PCR with multiple primers. The breakpoints were identified by Sanger sequencing. All patients presented with characteristic features of poikiloderma, short stature, and sparse hair, eyelashes, and eyebrows. In addition, patient 1 had intellectual disability and speech delay, and patient 2 developed osteosarcoma when she was 13 years old. Biallelic RECQL4 variants were identified in all three patients. Five of the six variants were novel, including c.119‐1G>A, c.2886‐1G>A, c.2290C>T (p.Gln764*), and c.3552dupG (p.Arg1185Glufs*42), and a gross deletion encompassing exons 6 to 10. Our study expands the genetic and clinical spectrums of RTS. Furthermore, we reported the first heterozygous gross deletion in RECQL4.
Leaf phenology and trunk growth of Avicennia alba (Blume) under a seasonally fluctuating saline environment in the tropical monsoon area of eastern Thailand
Authors: Kankong Piyapon , Poungparn Sasitorn , Komiyama Akira , Rodtassana Chadtip , Pravinvongvuthi Tamanai
Published: June 2021

Mangrove forests are said to be highly productive ecosystems but it is unclear how they maintain high productivity under the fluctuation of saline environment in the tropical monsoon region. A study of phenological aspects linked with the growth of mangrove trees may be a supportive evidence for this. Here, we studied the seasonal variation in leaf phenology and trunk growth of Avicennia alba trees in a tropical monsoon mangrove forest which has clear rainy and dry seasons at Trat Province, eastern Thailand. For the leaf phenology, the number of new and lost leaves was counted by using demographic techniques, and the monthly rates of leaf emergence and loss were calculated from 45 sample shoots from June 2019 to May 2020. In this period, trunk basal‐area increments were also recorded monthly by using dendrometer bands. The rate of leaf emergence showed a remarkable seasonal pattern that was high during the rainy season and low during the dry season. The monthly rate of leaf emergence and trunk growth showed a positive relationship, indicating that both the leaf and trunk growth of A. alba responded to the changing water salinity in the soil. However, the leaf loss rate fluctuated throughout the study period. It was considered that the cambial activity of trunk growth associated with new leaf formation stimulates tree growth under the low saline environment during the rainy season in the tropics. We discussed a growth strategy that will benefit mangrove trees growing in the intertidal areas under fluctuated saline environment.
‘What a Difference it was to be a Woman and not a Teenager’: Adolescent Girls’ Conceptions of Adulthood in 1960s and 1970s Britain
Authors: Tisdall Laura
Published: June 2021

British working‐class adolescent girls wrote about their imagined futures in thousands of essays throughout the 1960s and 1970s. Producing narratives that were intended for the eyes of teachers and researchers, these writers’ attempts to reflect accepted narratives about growing up offer us a window into how wider societal ideas about adulthood were reinvented in post‐war Britain. For these teenage girls, markers of adulthood remained traditional: marriage and motherhood were framed as the only route to becoming an adult woman. However, the category of adulthood itself was now conceptualised as the culmination of a series of discontinuous psychological stages of development, meaning that girls who did not achieve these goals could now be pathologised as psychologically and even biologically immature. This was especially problematic for young lesbians, who recognised that their sexual orientation both prevented them from straightforwardly conforming to heteronormative ideas of marriage and motherhood and was also identified as a ‘phase’ that was linked solely to adolescence. Nevertheless, these new ideas of adulthood shaped the choices of all adolescent girls, as they strove to prove that they were mature enough to no longer be defined as innately irresponsible teenagers.
Statistical methods and software used in nutrition and dietetics research: A review of the published literature using text mining
Authors: Coenen Alison , Batterham Marijka J. , Beck Eleanor J.
Published: June 2021

Aim

Dietitians must be statistically literate to effectively interpret the scientific literature underpinning the discipline. Despite this, no study has been conducted that objectively identifies common statistical methods and packages specific to current nutrition and dietetics literature. This study aimed to identify statistical methods and software frequently used in nutrition and dietetics research.

Methods

A text mining approach using the bag‐of‐words method was applied to a random sample of articles obtained from all journals in the ‘Nutrition and Dietetics’ subject category within the SCImago Journal and Country Rank portal and published in 2018. A list of 229 statistical terms and 19 statistical software packages was developed to define the search terms to be mined. Statistical information from the methods section of included articles was extracted into Microsoft Excel (2016) for data cleaning. Statistical analyses were conducted in R (Version 3.6.0) and Microsoft Excel (2016).

Results

Seven hundred and fifty‐seven journal articles were included. Numerical descriptive statistics were the most common statistical method group, appearing in 83.2% of articles (n = 630). This was followed by specific hypothesis tests (68.8%, n = 521), general hypothesis concepts (58.4%, n = 442), regression (44.4%, n = 336), and ANOVA (30.8%, n = 233). IBM SPSS statistics was the most common statistical software package, reported in 41.7% of included articles.

Conclusion

These findings provide useful information for educators to evaluate current statistics curricula and develop short courses for continuing education. They may also act as a starting point for dietitians to educate themselves on typical statistical methods they may encounter.
Identification of a self‐sufficient cytochrome P450 monooxygenase from Cupriavidus pinatubonensis JMP134 involved in 2‐hydroxyphenylacetic acid catabolism, via homogentisate pathway
Authors: Donoso Raúl A. , Ruiz Daniela , Gárate‐Castro Carla , Villegas Pamela , González‐Pastor José Eduardo , de Lorenzo Víctor , González Bernardo , Pérez‐Pantoja Danilo
Published: June 2021

The self‐sufficient cytochrome P450 RhF and its homologues belonging to the CYP116B subfamily have attracted considerable attention due to the potential for biotechnological applications based in their ability to catalyse an array of challenging oxidative reactions without requiring additional protein partners. In this work, we showed for the first time that a CYP116B self‐sufficient cytochrome P450 encoded by the ohpA gene harboured by Cupriavidus pinatubonensis JMP134, a β‐proteobacterium model for biodegradative pathways, catalyses the conversion of 2‐hydroxyphenylacetic acid (2‐HPA) into homogentisate. Mutational analysis and HPLC metabolite detection in strain JMP134 showed that 2‐HPA is degraded through the well‐known homogentisate pathway requiring a 2‐HPA 5‐hydroxylase activity provided by OhpA, which was additionally supported by heterologous expression and enzyme assays. The ohpA gene belongs to an operon including also ohpT, coding for a substrate‐binding subunit of a putative transporter, whose expression is driven by an inducible promoter responsive to 2‐HPA in presence of a predicted OhpR transcriptional regulator. OhpA homologues can be found in several genera belonging to Actinobacteria and α‐, β‐ and γ‐proteobacteria lineages indicating a widespread distribution of 2‐HPA catabolism via homogentisate route. These results provide first time evidence for the natural function of members of the CYP116B self‐sufficient oxygenases and represent a significant input to support novel kinetic and structural studies to develop cytochrome P450‐based biocatalytic processes.
Size does matter: An exploration of the relationship between licensed venue capacity and on‐premise assaults
Authors: Miller Peter , Curtis Ashlee , Millsteed Melanie , Harries Travis , Nepal Smriti , Walker Samantha , Chikritzhs Tanya , Coomber Kerri
Published: June 2021

Aims

Venue capacity has been proposed as a factor associated with increased number of violent incidents on‐premises, though no specific research has demonstrated this association, and instead has tended to focus on the relationship between crowding and aggression. The aim of current paper is to investigate the association between venue capacity and the number of violent incidents on‐premises.

Methods

Venue capacity data (the maximum capacity listed on the liquor license) were obtained for all venues in central Melbourne from 2010 until 2016. These data were then matched with police‐recorded on‐premises assaults that occurred within high‐alcohol hours (Friday and Saturday 8 pm–6 am) inside the venue.

Results

Analyses were conducted on 5729 venue‐years (yearly assault counts per venue, per year) across central Melbourne. Compared with venues that have a maximum capacity of between 0 and 100 patrons, venues with higher capacities have increasingly more recorded assaults. Venues with maximum capacities between 501 and 1000 are 6.1 times more likely to have an assault recorded compared with venues with a maximum capacity between 0 and 100. Further, each additional high‐alcohol hour that a venue can be open for is associated with a 72% increase in the number of recorded assaults.

Conclusions

Greater venue capacity was found to be strongly associated with an increased risk of violent incidents for any given venue. This was further exacerbated by late‐night trading which substantially adds to the risk of assaults inside the venue.
Cutaneous and systemic hyperinflammation drives maculopapular drug exanthema in severely ill COVID‐19 patients
Authors: Mitamura Yasutaka , Schulz Daniel , Oro Saskia , Li Nick , Kolm Isabel , Lang Claudia , Ziadlou Reihane , Tan Ge , Bodenmiller Bernd , Steiger Peter , Marzano Angelo , de Prost Nicolas , Caudin Olivier , Levesque Mitchell , Stoffel Corinne , Schmid‐Grendelmeier Peter , Maverakis Emanual , Akdis Cezmi A. , Brüggen Marie‐Charlotte
Published: June 2021

Background

Coronavirus disease‐2019 (COVID‐19) has been associated with cutaneous findings, some being the result of drug hypersensitivity reactions such as maculopapular drug rashes (MDR). The aim of this study was to investigate whether COVID‐19 may impact the development of the MDR.

Methods

Blood and skin samples from COVID‐19 patients (based on a positive nasopharyngeal PCR) suffering from MDR (COVID‐MDR), healthy controls, non‐COVID‐19—related patients with drug rash with eosinophilia and systemic symptoms (DRESS), and MDR were analyzed. We utilized imaging mass cytometry (IMC) to characterize the cellular infiltrate in skin biopsies. Furthermore, RNA sequencing transcriptome of skin biopsy samples and high‐throughput multiplexed proteomic profiling of serum were performed.

Results

IMC revealed by clustering analyses a more prominent, phenotypically shifted cytotoxic CD8+T cell population and highly activated monocyte/macrophage (Mo/Mac) clusters in COVID‐MDR. The RNA sequencing transcriptome demonstrated a more robust cytotoxic response in COVID‐MDR skin. However, severe acute respiratory syndrome coronavirus 2 was not detected in skin biopsies at the time point of MDR diagnosis. Serum proteomic profiling of COVID‐MDR patients revealed upregulation of various inflammatory mediators (IL‐4, IL‐5, IL‐6, TNF, and IFN‐γ), eosinophil and Mo/Mac ‐attracting chemokines (MCP‐2, MCP‐3, MCP‐4 and CCL11).

Proteomics analyses demonstrated a massive systemic cytokine storm in COVID‐MDR compared with the relatively milder cytokine storm observed in DRESS, while MDR did not exhibit such features.

Conclusion

A systemic cytokine storm may promote activation of Mo/Mac and cytotoxic CD8+T cells in severe COVID‐19 patients, which in turn may impact the development of MDR.
Airway events in obese vs. non‐obese elective surgical patients: a cross‐sectional observational study
Authors: Shaw M. , Waiting J. , Barraclough L. , Ting K. , Jeans J. , Black B. ,   the Pan‐London Peri‐operative Audit and Research Network
Published: June 2021

Obesity is an increasingly prevalent comorbidity within the UK population. The aim of this study was to determine the proportion of obese patients in an elective surgical population. The second aim was to determine the choice of airway equipment and incidence of airway events in obese vs. non‐obese patients. We conducted a cross‐sectional observational study over two 24‐h periods in March 2018 across 39 hospitals in the greater London area. Data were collected regarding 1874 patients. The incidence of obesity was 32% in the study population compared with 26% in the general UK population (p < 0.0001). Minor airway events were defined as: desaturation to SpO2 < 90%; failed mask ventilation; supraglottic airway device problem; aspiration; airway trauma and difficult intubation; or recognised oesophageal intubation. Major airway events were defined as: unrecognised oesophageal intubation; a ‘cannot intubate cannot oxygenate’ emergency; the need for unplanned front‐of‐neck airway; cardiac arrest; or unplanned intensive care unit admission due to an airway event. In total, 89 minor and two major airway events were recorded. Obese patients were more likely to experience a minor airway event (RR 2.39, 95%CI 1.60–3.57), the most common being desaturation (SpO2 < 90%). The use of a supraglottic airway device in obese vs. non‐obese patients was associated with increased airway events (RR 3.46 [1.88–6.40]). Tracheal intubation vs. supraglottic airway device use increased with obesity class but was not associated with a decrease in airway events (RR 0.90 [0.53–1.55]). Our data suggest that obesity is more common in the elective surgical vs. general population and minor airway events are more common in obese vs. non‐obese elective patients.
Spaces of Social Recomposition: Resisting Meaningful Work in Social Cooperatives in Italy
Authors: Castellini Valentina
Published: June 2021

Workers’ experiences in Italian social cooperatives expose the tension between the goal of desirable change that these social economy organisations pursue and the demanding working conditions shouldered by staff. Born from the radical movements of the 1970s, social cooperatives deliver care and community services that seek to counter inequalities and marginalisation. This important work fuses employment with activism. Yet, cooperatives often rely on casualised labour practices that normalise overwork. A noble mission does not guarantee cooperatives will also be sustainable work environments. Based on extensive qualitative research conducted in Milan, this paper explores how, since 2013, a collective of social economy workers has been mobilising to challenge poor working conditions, query the ways workers participate in them, and connect labour demands with broader struggles against austerity and impoverishment. These organising efforts pursue social recomposition: a form of labour struggle that exceeds the workplace and embraces the sphere of social reproduction. Combining a workerist framework of class composition with feminist insights, this paper invites attention to the ways workers inhabit and struggle within, against and beyond their work.