bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3’-end processing
Authors: Saoura Makenzie , Powell Christopher A. , Kopajtich Robert , Alahmad Ahmad , AL-Balool Haya H. , Albash Buthaina , Alfadhel Majid , Alston Charlotte L. , Bertini Enrico , Bonnen Penelope , Bratkovic Drago , Carrozzo Rosalba , Donati Maria A. , Nottia Michela Di , Ghezzi Daniele , Goldstein Amy , Haan Eric , Horvath Rita , Hughes Joanne , Invernizzi Federica , Lamantea Eleonora , Lucas Benjamin , Pinnock Kyla-Gaye , Pujantell Maria , Rahman Shamima , Rebelo-Guiomar Pedro , Santra Saikat , Verrigni Daniela , McFarland Robert , Prokisch Holger , Taylor Robert W. , Levinger Louis , Minczuk Michal 
Published: July 2018

AbstractDysfunction of mitochondrial gene expression, caused by mutations in either the mitochondrial or nuclear genomes, is associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism. For instance, pathogenic mutations have been identified in the genes encoding enzymes involved in the precursor transcript processing, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, which is responsible for endonucleolytic cleavage of the 3’ ends of mitochondrial pre-tRNAs. Here, we report the identification of sixteen novel ELAC2 variants in individuals presenting with mitochondrial respiratory chain deficiency, hypertrophic cardiomyopathy and lactic acidosis. We provided further evidence for the pathogenicity of the three previously reported variants by studying the RNase Z activity in an in vitro system and applied this recombinant system to investigate all novel missense variants, confirming the pathogenic role of these new ELAC2 mutations. We also modelled the residues affected by missense mutation in solved RNase Z structures, providing insight into enzyme structure and function. Finally, we show that primary fibroblasts from the individuals with novel ELAC2 variants have elevated levels of unprocessed mitochondrial RNA precursors. Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile-onset forms of hypertrophic cardiomyopathy and mitochondrial respiratory chain dysfunction. One rare missense variant associated with the occurrence of prostate cancer (p.Arg781His) impairs the mitochondrial RNase Z activity of ELAC2, possibly indicating a functional link between tumorigenesis and mitochondrial RNA metabolism.
A synthetic microbial loop for modelling heterotroph-phototroph metabolic interactions
Authors: Fondi Marco , Di Patti Francesca 
Published: July 2018

AbstractMarine ecosystems are characterized by an intricate set of interactions among their representatives. One of the most important occurs through the exchange of dissolved organic matter (DOM) provided by phototrophs and used by heterotrophic bacteria as their main carbon and energy source. This metabolic interaction represents the foundation of the entire ocean food-web.Here we have assembled a synthetic ecosystem to assist the systems-level investigation of this biological association. This was achieved building an integrated, genome-scale metabolic reconstruction using two model organisms (a diatom Phaeodactylum tricornutum and an heterotrophic bacterium, Pseudoalteromonas haloplanktis) to explore and predict their metabolic interdependencies. The model was initially analysed using a constraint-based approach (Flux Balance Analysis, FBA) and then turned into a dynamic (dFBA) model to simulate a diatom-bacteria co-culture and to study the effect of changes in growth parameters on such a system. Finally, we developed a simpler dynamic ODEs system that, fed with dFBA results, was able to qualitatively describe this synthetic ecosystem and allowed performing stochastic simulations to assess the effect of noise on the overall balance of this co-culture.We show that our model recapitulates known metabolic cross-talks of a phototroph-heterotroph system, including mutualism and competition for inorganic ions (i.e. phosphate and sulphate). Further, the dynamic simulation predicts realistic growth rate for both the diatom and the bacterium and a steady state balance between diatom and bacterial cell concentration that matches those determined in experimental co-cultures. This steady state, however, is reached following an oscillatory trend, a behaviour that is typically observed in the presence of metabolic co-dependencies. Finally, we show that, at high diatom/bacteria cell concentration ratio, stochastic fluctuations can lead to the extinction of bacteria from the co-culture, causing the explosion of diatom population. We anticipate that the developed synthetic ecosystem will serve in the future as a basis for the generation of testable hypotheses and as a scaffold for integrating and interpreting-omics data from experimental co-cultures.
Micro-foundations of innovation
Authors: Maqbool Saif , Černe Matej , Bortoluzzi Guido 
Published: July 2018

PurposeThe purpose of this paper is to extend current discussion on the drivers of innovative work behaviour (IWB) of individuals by connecting theories of flow (personal factor), employee silence (relational) and time pressure (contextual).Design/methodology/approachData have been collected from employees of five companies based in Italy (n=608).FindingsSilence is negatively related to IWB, whereas flow has the opposite association. Perceived time pressure moderates the relationship between employee silence and IWB. Furthermore, the findings indicate that the highest levels of IWB will take place when the flow level is high, individuals are absorbed in and enjoy their work, and the level of employee silence is low, enabling them to exchange ideas and obtain the necessary support and resources. At the same time, low levels of time pressure provide them with sufficient time for innovative processes to take place, ideas to be shared, and individuals to become engrossed in their innovations.Research limitations/implicationsCross-sectional single-source data set.Practical implicationsEstablishing a work context favourable for stimulating each employee’s active contribution towards IWB based on a complex interaction among flow, silence and time pressure.Originality/valueBuilding on the theories of flow and the relational model of employee silence and combining their logic, the research not only delves into the two specific paths to IWB but also examines their multiple effects. Furthermore, the authors pin both factors (silence and flow) under the contextual influence of perceived time pressure, investigating how they simultaneously relate to IWB.
TEFL/TESOL teachers on the move: mobility and culture
Authors: Lam Lydia Sin Ting 
Published: July 2018

PurposeThe purpose of this paper is to discuss the story of 15 TEFL/TESOL English language teachers who spend their lives working globally.Design/methodology/approachInterviews from the research based on the grounded approach generated, among others, three inter-related themes, namely, the global drift, distinctive cultural dispositions and the concept of global quality.FindingsThe global drift symbolizes interviewees’ mobility pattern and captures their Hong Kong experience in four states – adaptation, drifting in global comfort, drifting in global discomfort and bitter/sweet home, each representing a different quality of mobility which contributes to the development of cultural dispositions. Findings of cultural disposition home and openness are considered in relation to studies of its kind. Four aspects of home perceptions in the data are identified. While interviewees developed complex and varied notions of home, it is argued that the geographical home remains a significant resource in the making of home. Data also suggest that most interviewees’ openness is limited – it is selective, functional and transient. Global quality, a concept emerged from the research, summarizes the distinctive cultural traits of the community of the globals. It overlaps with, but does not necessarily equate with, cosmopolitanism.Originality/valueThe conclusion relates the study, including the concepts generated from this research, to cosmopolitanism. Two theoretical constructs are employed in the analysis: form of mobility and nature of mobility.
Cost and time implications of abandoned project resuscitation
Authors: Alao Oluwaseyi Olalekan , Jagboro Godwin Onajite , Opawole Akintayo 
Published: July 2018

Purpose
This paper aims to determine the effect of the period of abandonment on the final cost and duration of resuscitated tertiary educational building projects as a basis for enhancing the performance metrics of the projects and improving the availability of facilities in tertiary institutions in Nigeria.

Design/methodology/approach
A structured questionnaire was administered on 47 professionals involved in the physical development of construction projects in Osun State public tertiary educational institutions to provide primary data for the study. Secondary data relating to initial and final costs, initial and final completion dates, dates of abandonment, period of abandonment, date of re-award, etc. were obtained from selected resuscitated projects. Data were analyzed using relative significance index and regression analysis.

Findings
The most significant effects of project abandonment were found to be disappointment of populace and over-stretching of existing facilities. The study showed a directly proportional and an exponential effect of period of abandonment on percentage cost overrun of resuscitated projects, which were represented by yc = −329.755 + 19.545x and yc = 6.1662e0.0506x, respectively. A linear relationship between period of abandonment and percentage time overrun was represented by yt = 0.467 + 0.816x.

Research limitations/implications
The fact that the regression equations could not be validated because of paucity of data was identified as a limitation of this study.

Practical implications
This study adds to the body of knowledge on abandonment of building projects from a quantitative perspective. Findings have implications for guiding long-term infrastructure development plans in public tertiary educational institutions.

Originality/value
Maximum threshold at which abandoned projects may be resuscitated at an economic cost was established as 16 months. Findings further suggest that the economy of new construction would outweigh resuscitation of abandoned projects beyond this period.
Enablers of relational integrated value networks (RIVANS) for total facilities management (TFM)
Authors: De Silva Nayanthara , Weerasinghe Nilmini , Madhusanka H.W.N. , Kumaraswamy Mohan 
Published: July 2018

Purpose
The purpose of this paper is to identify enablers for setting up relationally integrated value networks (RIVANS) for total facilities management (TFM) as a holistic approach to bridge the Project Management (PM) phase to the facilities management (FM) phase, aiming for better service delivery while optimizing the life-cycle cost. These enablers are proposed as required driving forces for the industry to bridge current gaps through RIVANS for TFM so as to improve the value of the facility and deliver better value to its stakeholders over its life span.

Design/methodology/approach
A literature review elicited 11 typical better values that could be achieved by suitably linking the PM and FM supply chains in general. While these were tested in parallel research exercises in Hong Kong, the UK and Singapore, this paper reports on the specific findings from Sri Lanka, where a Web-based questionnaire survey was conducted to identify potential better values for proposed relational networks (including the clients, consultants, contractors and suppliers in the supply chain). Better values were then clustered under principal domains/components using factor analysis to establish synergetic enablers.

Findings
In total, 11 significant better values for TFM were identified and four enablers were extracted as building long-term integrated networks, establishing a common resource pool linking PM and FM, enhancing sustainability of TFM and developing a similar protocol between PM and FM.

Originality/value
The study carried out in this paper contributes to knowledge by identifying drivers to bridge the gap between PM and FM to best achieve clients’ long-term aspirations through a holistic life-cycle approach. Furthermore, all stakeholders in TFM can revisit their practices to establish and strengthen the identified enablers.
A semi-analytical solution for time-dependent natural convection flow with heat generation/absorption in an annulus partially filled with porous material
Authors: Yusuf Taiwo S. , Jha Basant K. 
Published: July 2018

Purpose
The purpose of this paper is to present a semi-analytical solution for time-dependent natural convection flow with heat generation/absorption in an annulus partially filled with porous material.

Design/methodology/approach
The governing partial differential equations are transformed into the ordinary differential equations using the Laplace transform technique. The exact solution obtained is inverted from the Laplace domain to time domain using the Riemann-sum approximation approach. Justification of the Riemann-sum approximation approach is achieved by comparing the values obtained with those of the implicit finite difference method at both the transient state and the steady state at large time.

Findings
If is found that the peak axial velocity always occur in the clear fluid region. In addition, there is an indication that heat generating fluid is desirable for optimum mass flux in the annular gap most importantly when the convection current is enhanced by constant heat flux.

Originality/value
In view of the amount of works done on natural convection with internal heat generation/absorption, it becomes interesting to investigate the influence of this essential activity on natural convection flow in a vertical cylinder partially filled with porous material where the outer surface of the inner cylinder is either heated isothermally or with constant heat flux.
Postgraduate student satisfaction in the UK
Authors: Poon Joanna 
Published: July 2018

PurposeThe purpose of this paper is to identify the relative importance of factors that influence the overall satisfaction of postgraduate built environment students and also examine the extent to which demographic backgrounds affect this.Design/methodology/approachThe data used in this paper have been collected through Postgraduate Taught Experience Survey in the UK. Descriptive and statistical analysis methods were used to analyse student satisfaction variables and identify the extent to which demographic factors influenced overall student satisfaction.FindingsFactors related to teaching and learning have the most statistically significant importance for postgraduate built environment student satisfaction in the UK. Other factors imposing statistically significant influence on student satisfaction are related to assessment and feedback, organisation and management, skills development and information related to the course as all factors of these categories have a significance value of 0. On the other hand, students showed a lower level of satisfaction to factors related to Dissertations or major projects although it is not statistically significant. Gender is the only demographic factor, which has a statistically significant influence on student satisfaction for built environment students.Research limitations/implicationsThe sample includes data only from a single university. Therefore, it may impose restrictions of generalisability of this research.Practical implicationsThis research identifies the factors that affect the satisfaction of postgraduate built environment students. The built environment course directors can use the findings of this research to make recommendations on the redesign and redevelopment of their courses in order to enhance the quality of the programmes in order to make them more attractive and appealing to students.Originality/valueThis is pioneering research that provides a comprehensive overview of the factors affecting postgraduate built environment student satisfaction in the UK.
High performance heat-resistant coatings based on natural ores
Authors: Abd El-Gawad Walaa M. , Ahmed Nivin M. 
Published: July 2018

Purpose
The purpose of this paper is to prepare new economical thermal resistant coatings containing white sand (WS) and kaolin (K) fillers, which are cheap natural ores in Egypt and are sources for ceramic materials such as SiO2 and Al2O3.

Design/methodology/approach
This paper investigates the effect of heat at 500°C on the durability of mild steel samples coated with silicon coatings. The coated plates were exposed to elevated temperatures according to ASTM D 2485 to determine their stability. Thermal gravimetric analysis and scanning electron microscopy were used to investigate the thermal stability of the modified films.

Findings
It was revealed that the composite fillers can enhance the thermal stability of silicon coatings. Another advantage of using the prepared composite fillers is promoting the dryness of silicon resin without heat.

Research limitations/implications
Different natural ores were used as ceramic filler to enhance the thermal stability of silicon coatings.

Originality/value
New economical thermal-resistant coatings containing white sand and kaolin were prepared to replace the expensive thermal coatings; also, they can be used in industries other than coatings, e.g. paper, rubber and plastics composites.
The effect of far-infrared emitting sheets on sleep
Authors: McCall William Vaughn , Letton Alan , Lundeen Jordan , Case Doug , Cidral-Filho Francisco J. 
Published: July 2018

Purpose
The application of far-infrared energy to skin is expected to lead to vasodilatation of the skin surface, consequently warming the skin, and promoting sleep induction. The purpose of this paper was to test whether bedsheets impregnated with bioceramic far-infrared technology would improve the perception of sleep in a sample of healthy adults.

Design/methodology/approach
Twenty-nine adults consented to participate, randomizing 17 to the far-infrared bedsheets and 12 to the control bedsheets. Two of the control participants dropped out prior to randomization and prior to completing any assessments and therefore are excluded from the analyses. After baseline assessment, participants slept on their randomly assigned sheets for five weeks, followed by a one week “wash out”. Insomnia symptoms were assessed with the Insomnia Severity Index, depression symptoms with the Patient Health Questionnaire, “vigor” and “fatigue” with the Profile of Mood States, and napping behavior with daily sleep diaries.

Findings
During the period of randomization, the participants on the far-infrared sheets reported fewer insomnia symptoms and less napping. This advantage was lost during the wash out period.

Originality/value
Far-infrared technology produces benefits on reported sleep in healthy normal adults.
Oral propranolol for infantile hemangiomas beyond the proliferative phase
Authors: Kagami Shinji , Katori Tatsuo 
Published: July 2018

AbstractInfantile hemangiomas grow rapidly during infancy followed by gradual involution. After involution, residual lesions sometimes remain. Despite the prognosis for eventual involution, infantile hemangiomas often cause great psychosocial morbidity that affects patients and their parents. Oral propranolol usually induces earlier involution and redness reduction in infantile hemangiomas in the proliferative phase. However, to evaluate the effectiveness of oral propranolol for infantile hemangiomas beyond the proliferative phase is difficult because of spontaneous regression. We report five Japanese patients treated with 2 mg/kg per day of oral propranolol for infantile hemangiomas beyond the proliferative phase and compared with three untreated patients. After the oral propranolol treatment for 25 weeks, all the treated patients exhibited earlier color fading than untreated patients. Four patients reached nearly complete resolution. Adverse events occurred in three patients: cold, exanthema subitum and suspected of bronchial asthma, respectively. The propranolol treatment for the patient with suspected of bronchial asthma was suspended for 4 months. Recurrence after termination of treatment was not seen. Oral propranolol (2 mg/kg per day) is a safe and effective treatment for Japanese patients with infantile hemangiomas beyond the proliferative phase.
Bacterial interactions during sequential degradation of cyanobacterial necromass in a sulfidic arctic marine sediment
Authors: Müller Albert L. , Pelikan Claus , de Rezende Julia R. , Wasmund Kenneth , Putz Martina , Glombitza Clemens , Kjeldsen Kasper U. , Jørgensen Bo Barker , Loy Alexander 
Published: July 2018

SummarySeafloor microorganisms impact global carbon cycling by mineralizing vast quantities of organic matter (OM) from pelagic primary production, which is predicted to increase in the Arctic because of diminishing sea ice cover. We studied microbial interspecies‐carbon‐flow during anaerobic OM degradation in arctic marine sediment using stable isotope probing. We supplemented sediment incubations with 13C‐labeled cyanobacterial necromass (spirulina), mimicking fresh OM input, or acetate, an important OM degradation intermediate and monitored sulfate reduction rates and concentrations of volatile fatty acids (VFAs) during substrate degradation. Sequential 16S rRNA gene and transcript amplicon sequencing and fluorescence in situ hybridization combined with Raman microspectroscopy revealed that only few bacterial species were the main degraders of 13C‐spirulina necromass. Psychrilyobacter, Psychromonas, Marinifilum, Colwellia, Marinilabiaceae and Clostridiales species were likely involved in the primary hydrolysis and fermentation of spirulina. VFAs, mainly acetate, produced from spirulina degradation were mineralized by sulfate‐reducing bacteria and an Arcobacter species. Cellular activity of Desulfobacteraceae and Desulfobulbaceae species during acetoclastic sulfate reduction was largely decoupled from relative 16S rRNA gene abundance shifts. Our findings provide new insights into the identities and physiological constraints that determine the population dynamics of key microorganisms during complex OM degradation in arctic marine sediments.© 2018 Society for Applied Microbiology and John Wiley & Sons Ltd