bluuebunny/crossref_metadata_2025 huggingface dataset:
A Markov decision process model case for optimal maintenance of serially dependent power system components
Authors: Bumblauskas Daniel
Published: August 2015

Purpose

– Using a case study for electrical power equipment, the purpose of this paper is to investigate the importance of dependence between series-connected system components in maintenance decisions.

Design/methodology/approach

– A continuous-time Markov decision model is formulated to find a minimum cost maintenance policy for a circuit breaker as an independent component while considering a downstream transformer as a dependent component. Maintenance of the dependent component is included implicitly in terms of the costs associated with certain state-action pairs. For policy and cost comparisons, a separate model is also formulated that considers only the circuit breaker as the independent component. After uniformizing the continuous-time models to discrete time, standard methods are used to solve for the average-cost-optimal policies of each model.

Findings

– The optimal maintenance policy and its cost differ significantly depending on whether or not the dependent component is considered.

Research limitations/implications

– Data used are from manufacturer databases; additional model validation could be conducted if applied to an electric utility asset fleet within their generation, transmission, and/or distribution system. This model and methodology are already being applied in other contexts such as industrial machinery and equipment, jet engines, amusement park rides, etc.

Practical implications

– The outcome of this model can be utilized by asset and operations managers to make maintenance decisions based on prediction rather than more traditional time- or condition-based maintenance methodologies. This model is being developed for use as a module in a larger maintenance information system, specifically linking condition monitor data from the field to a predictive maintenance model. Similar methods are being applied to other applications outside the electrical equipment case detailed herein.

Originality/value

– This model provides a structured approach for managers to decide how to best allocate their resources across a network of inter-connected equipment. Work in this area has not fully considered the importance of dependency on systems maintenance, particularly in applications with highly variable repair and replacement costs.
Oxidative stress is related to both melanin‐ and carotenoid‐based ornaments in the common yellowthroat
Authors: Henschen Amberleigh E. , Whittingham Linda A. , Dunn Peter O.
Published: August 2015

Male ornaments are hypothesized to signal the ability of males to produce an effective immune response without extensive oxidative stress and damage to DNA.

We examined this hypothesis in male common yellowthroats (Geothlypis trichas), which have two ornaments, a black (eumelanin‐based) facial mask and a yellow (carotenoid‐based) bib. In our study population, only the black mask is sexually selected.

As predicted by the oxidative stress hypothesis, males with larger black masks were more resistant to oxidative stress, as measured by an in vitro assay of the resistance of erythrocytes to haemolysis by free radicals. Furthermore, males with larger masks also tended to have lower levels of glutathione, which was predicted because glutathione inhibits eumelanin production. In contrast, mask size was not related to absolute levels of oxidative stress measured in the plasma.

Although the yellow bib is not under sexual selection in our population, males with larger bibs and feathers with greater carotenoid chroma had lower levels of oxidative stress.

The oxidative stress hypothesis was first proposed for carotenoid‐based ornaments. However, our results suggest that, even in the same individuals, carotenoid and eumelanin‐based plumage ornaments may both signal the ability of males to resist or manage oxidative stress.
Autonomic modulation analysis in active and sedentary kidney transplanted recipients
Authors: Moraes Dias Carlos José , Anaisse Azoubel Luana Monteiro , Araújo Costa Herikson , Costa Maia Ednei , Rodrigues Bruno , Silva‐Filho Antonio Carlos , Dias‐Filho Carlos Alberto Alves , Claúdia Irigoyen Maria , Leite Richard D , de Oliveira Junior Mário Sevilio , Mostarda Cristiano Teixeira
Published: August 2015

Modulation of the autonomic nervous system on heart rate can be compromised in chronic kidney disease and may result in changes in the frequency and duration of the cardiac cycle. The aim of this study was to evaluate autonomic modulation in active and sedentary renal transplant recipients. Twenty renal‐transplanted individuals were analyzed at the Centro de Prevenção de Doenças Renais (Kidney Disease Education Centre), in the academic hospital of Universidade Federal do Maranhão, and were divided into the active group (AG) and the sedentary group (SG). The AG comprised of six men and four women (age 43.10 ± 13.02) and was in regular concurrent training intervention for 8 weeks, while the SG was composed of three men and seven women (age 36.8 ± 9.26). Analysis of heart rate (HR) variability in time and frequency domain demonstrated that HR mean values in the SG and AG were 787.32 ± 79.60 and 870 ± 106.66 ms, respectively. Differences were observed in the time domain and frequency domain. The total index of low frequency and high frequency showed no differences between the SG and AG. Biochemical variables presented significantly lower levels after 8 weeks of training. Higher heart rate variability in the time domain and greater vagal modulation was observed in the AG. The AG ad greater vagal modulation when compared to the SG, with removal of the sympathetic and increased parasympathetic in the behaviour was confirmed by sympatho‐vagal balance. The AG also presented significant improvements in the frequency domain.
Spatio‐temporal elements of articulation work in the achievement of repeat prescribing safety in UK general practice
Authors: Grant Suzanne , Mesman Jessica , Guthrie Bruce
Published: August 2015

Prescribing is the most common healthcare intervention, and is both beneficial and risky. An important source of risk in UK general practice is the management of ‘repeat prescriptions’, which are typically requested from and issued by non‐clinically trained reception staff with only intermittent reauthorisation by a clinical prescriber. This paper ethnographically examines the formal and informal work employed by GPs and receptionists to safely conduct repeat prescribing work in primary care using Strauss's (1985, 1988, 1993) concept of ‘articulation work’ across eight UK general practices. The analytical lens of articulation work provided an investigative framing to contextually map the informal, invisible resources of resilience and strength employed by practice team members in the achievement of repeat prescribing safety, where risk and vulnerability were continually relocated across space and time. In particular, the paper makes visible the micro‐level competencies and collaborative practices that were routinely employed by both GPs and receptionists across different socio‐cultural contexts, with informal, cross‐hierarchical communication usually considered more effective than the formal structures of communication that existed (e.g. protocols). While GPs held formal prescribing authority, this paper also examines the key role of receptionists in both the initiation and safe coordination of the repeat prescribing routine.
The Disciplining Effect of Concern for Referrals: Evidence from Real Estate Agents
Authors: Shi Lan , Tapia Christina
Published: August 2015

Real estate agents rely on clients for referrals to generate future business; this article examines whether concern for referrals disciplines agents. We compare results for sellers who move to another area (and are less likely to provide referrals) with results for sellers who remain in the area (and are more likely to provide referrals). We find that moving‐away sellers’ houses have a higher sale rate, sell faster and sell for less (even after controlling for moving‐away sellers’ greater impatience). We also provide evidence that the disciplining effect of concern for referrals is stronger for agents who place a greater value on reputation. Finally, among sellers who are better at evaluating and monitoring agents, we see less of the high sell rate, low sale‐price effect.
DELINQUENCY AND GENDER MODERATION IN THE MOVING TO OPPORTUNITY INTERVENTION: THE ROLE OF EXTENDED NEIGHBORHOODS
Authors: GRAIF CORINA
Published: August 2015

A long history of research has indicated that neighborhood poverty increases youth's risk taking and delinquency. This literature predominantly has treated neighborhoods as independent of their surroundings despite rapidly growing ecological evidence on the geographic clustering of crime that suggests otherwise. This study proposes that to understand neighborhood effects, investigating youth's wider surroundings holds theoretical and empirical value. By revisiting longitudinal data on more than 1500 low‐income youth who participated in the Moving to Opportunity (MTO) randomized intervention, this article explores the importance of extended neighborhoods (neighborhoods and surroundings) and different concentrated disadvantage configurations in shaping gender differences in risk taking and delinquency. The results from two‐stage, least‐squares analyses suggest that the extended neighborhoods matter and they matter differently by gender. Among girls, extended neighborhoods without concentrated disadvantage were associated with lower risk‐taking prevalence than extended neighborhoods with concentrated disadvantage. In contrast, among boys, localized concentration of disadvantage was associated with the highest prevalence of risk taking and delinquency. Interactions between the immediate and surrounding neighborhoods were similarly associated with differential opportunity and social disorganization mediators. Among the more critical potential mediators of the link between localized disadvantage and boys’ risk taking were delinquent network ties, strain, and perceived absence of legitimate opportunities for success.
The 40‐Something Randomised Controlled Trial improved fruit intake and nutrient density of the diet in mid‐age women
Authors: Hollis Jenna L. , Williams Lauren T. , Morgan Philip J. , Collins Clare E.
Published: August 2015

Aim

The 40‐Something Randomised Controlled Trial (RCT) aimed to determine if a 12‐month health professional‐led intervention could improve dietary intake and increase physical activity for weight gain prevention in non‐obese premenopausal women.

Methods

Fifty‐four women were randomised to a motivational interviewing intervention (MI) (n = 28; five health professional consultations) or a self‐directed intervention (SDI; n = 26; written advice). Weight control behaviours including dietary intake (four‐day weighed food record) and physical activity (pedometer steps; minutes spent in light, moderate and vigorous activity; sitting time) were measured at baseline, and at 3 and 12 months. Participants completed a questionnaire containing demographic questions,ShortForm 36 and theInternationalPhysicalActivityQuestionnaire at baseline and 12 months. Linear mixed model analyses adjusting for baseline and 3‐month behaviour, covariates and interactions were used to test for between‐group differences.

Results

At 12 months, theMIgroup had diets significantly more nutrient dense in iron (P= 0.01) and potassium (P= 0.04), and consumed more fruits (P= 0.02) than theSDIwomen. Women who achieved their weight control goals consumed significantly more daily fruit servings (+0.76 servings/day,P= 0.02) and less meat/meat alternatives (−0.34 servings/day,P< 0.01) than women who did not achieve weight control. The lack of changes in physical activity indicates that more emphasis may need to be placed on promoting physical activity.

Conclusions

The findings demonstrated the effectiveness of the 40‐SomethingRCTin improving iron and potassium nutrient density and fruit servings per day in women soon to commence menopause.
Education for Sustainable Development and International Student Assessments: Governing Education in Times of Climate Change
Authors: Sinnes Astrid T. , Eriksen Christoffer C.
Published: August 2015

At the end of the UN's Decade of Education for Sustainable Development there are few, if any, indications of comprehensive educational reforms meeting the challenges of sustainable development. Rather, a central aim for current educational reforms appears to be improvement of student performance on national and international educational assessments, such as the Organization for Economic Cooperation and Development (OECD)'s Programme for International Student Assessments (PISA). Against this background, this article explores the relationship between the UN's measures to promote education for sustainable development (ESD) and the OECD's measures to assist the development of education policy through PISA. The article finds that there are asymmetries in the ways these two different measures shape education systems. Moreover, the article also finds tensions between the educational practices associated with ESD, and those associated with ambitions to improve scores on PISA and other tests.
Qualitative Research in Emergency Care Part I: Research Principles and Common Applications
Authors: Choo Esther K. , Garro Aris C. , Ranney Megan L. , Meisel Zachary F. , Morrow Guthrie Kate
Published: August 2015

Qualitative methods are increasingly being used in emergency care research. Rigorous qualitative methods can play a critical role in advancing the emergency care research agenda by allowing investigators to generate hypotheses, gain an in‐depth understanding of health problems or specific populations, create expert consensus, and develop new intervention and dissemination strategies. This article, Part I of a two‐article series, provides an introduction to general principles of applied qualitative health research and examples of its common use in emergency care research, describing study designs and data collection methods most relevant to our field, including observation, individual interviews, and focus groups. In Part II of this series, we will outline the specific steps necessary to conduct a valid and reliable qualitative research project, with a focus on interview‐based studies. These elements include building the research team, preparing data collection guides, defining and obtaining an adequate sample, collecting and organizing qualitative data, and coding and analyzing the data. We also discuss potential ethical considerations unique to qualitative research as it relates to emergency care research.
Redefining the Converted Jewish Self: Race, Religion, and Israel's Bene Menashe
Authors: Egorova Yulia
Published: August 2015

The Bene Menashe stem from a number of Christian groups of the Indo‐Burmese borderland, some of whom back in the 1950s declared their descent from the Lost Tribes of Israel. In this article, I will use the example of the Bene Menashe migration to Israel to cast analytical light on different ways in which race and religion co‐constitute each other in processes of transnational migration. To do so, I will focus on one specific aspect of the Bene Menashe migration—the way the community has to construct and enact their religious affiliation to be able to become Israeli citizens and to be considered part of the Jewish people by their “hosts.” I argue that, in the case of the Bene Menashe, race and religion co‐produce each other in ways that reinforce racialized understandings of Judaism and Jewishness, and I suggest that what accounts for this phenomenon is that the opportunities that the Bene Menashe immigrants had in defining their religiosity in Israel were limited by the conditions of their migration, which developed against the backdrop of multiple colonial contexts. [Judaism, Israel, racialization, migration, religion]
Policing the Desert: The IOM in Libya Beyond War and Peace
Authors: Brachet Julien
Published: August 2015

The war that took place in Libya in 2011 forced 1.5 million people to leave the country. Many of them, from sub‐Saharan Africa, were helped to return to their countries of origin by the International Organization for Migration (IOM). This paper questions the purely humanitarian nature of the IOM intervention with references to its activities before and after the conflict. It shows that this organization has long participated in the implementation of European migration policies in Libya, and more widely in the Sahara, without being accountable to any people. Through the replacement of local politics by international crisis management, the Sahara is gradually integrated into a zone of international bureaucratic expedience. War and humanitarian intervention appear as contingencies in the progressive implementation of a global system of surveillance, spatial control and management of mobility in Africa.
The impact of ranibizumab on the level of intercellular adhesion molecule type 1 in the vitreous of eyes with proliferative diabetic retinopathy
Authors: Yan Ying , Zhu Li , Hong Ling , Deng Jun , Song Yanpin , Chen Xiao
Published: August 2015

Purpose

This study was to investigate the impact of ranibizumab on the level of intercellular adhesion molecule type 1 (ICAM‐1) in the vitreous of eyes with PDR.

Methods

This is an interventional case–control study. A total of 82 eyes from 82 patients who had undergone vitreous surgery for the treatment of retinal disorders were included. Twenty‐two eyes with PDR received an intravitreal ranibizumab injection (IVR) 3–7 days before vitrectomy and were grouped as ‘PDR with recent IVR’ or Group 1. Sixteen eyes with PDR received IVR more than 7 days before vitrectomy and were grouped as ‘PDR with remote IVR’ or Group 2. Twenty‐two matched PDR eyes did not receive IVR before vitrectomy and were grouped as ‘PDR without IVR’ or Group 3. Finally, 22 eyes from 22 patients with idiopathic macular pucker (IMP) served as the ‘non‐diabetic control’ group, or Group 4. Vitreous samples were obtained at the time of vitrectomy from all eyes, and the levels of vascular endothelium growth factor (VEGF) and ICAM‐1 were analysed using ELISA.

Results

PDR without IVR (Group 3) had the highest vitreous VEGF concentration; the difference was significant compared with those in the PDR with recent IVR (Group 1), PDR with remote IVR (Group 2) and the non‐diabetic control group (Group 4) (p < 0.001). Group 2 had a lower vitreous VEGF level than Group 1 (p = 0.041). Group 1 had the highest vitreous ICAM‐1 levels (p < 0.001 versus. Groups 2, 3 and 4); Group 2 had a lower vitreous ICAM‐1 level than Group 3 (p = 0.028).

Conclusion

The vitreous fluid level of ICAM‐1 was significantly increased within 1 week of IVR administration, but markedly decreased after a week of administration in eyes with PDR. This suggests that leucostasis, vascular leakage and endothelial dysfunction may be amplified in the early days after IVR, but that a therapeutic effect of IVR in these processes may appear after 1 week of ranibizumab administration in eyes with PDR.
The Upper Mississippi River floodscape: spatial patterns of flood inundation and associated plant community distributions
Authors: De Jager Nathan R. , Rohweder Jason J. , Yin Yao , Hoy Erin
Published: August 2015

Questions

How is the distribution of different plant communities associated with patterns of flood inundation across a large floodplain landscape?

Location

Thirty‐eight thousand nine hundred and seventy hectare of floodplain, spanning 320 km of the Upper Mississippi River (UMR).

Methods

High‐resolution elevation data (Lidar) and 30 yr of daily river stage data were integrated to produce a ‘floodscape’ map of growing season flood inundation duration. The distributions of 16 different remotely sensed plant communities were quantified along the gradient of flood duration.

Results

Models fitted to the cumulative frequency of occurrence of different vegetation types as a function of flood duration showed that most types exist along a continuum of flood‐related occurrence. The diversity of community types was greatest at high elevations (0–10 d of flooding), where both upland and lowland community types were found, as well as at very low elevations (70–180 d of flooding), where a variety of lowland herbaceous communities were found. Intermediate elevations (20–60 d of flooding) tended to be dominated by floodplain forest and had the lowest diversity of community types.

Conclusions

Although variation in flood inundation is often considered to be the main driver of spatial patterns in floodplain plant communities, few studies have quantified flood–vegetation relationships at broad scales. Our results can be used to identify targets for restoration of historical hydrological regimes or better anticipate hydro‐ecological effects of climate change at broad scales.
Evidence That the Gene–Environment Interactions Underlying Youth Conduct Problems Vary Across Development
Authors: Burt S. Alexandra
Published: August 2015

Gene–environment interactions (G × E) are thought to constitute a core mechanism through which genes influence youth conduct problems. Although biometric G × E studies have yielded provocative leads, two interrelated issues have yet to be meaningfully considered. First, most work has been focused on the diathesis‐stress model of G × E, in which genetic risk is amplified following exposure to an environmental pathogen. Although this form of G × E appears to be important, other possible instantiations of G × E exist. For example, in bioecological G × E, deleterious environments amplify environmental influences on the outcome. Second, conduct problems change dramatically from childhood to adolescence in that high levels of physical aggression give way to high levels of nonaggressive delinquency. As such, researchers must consider development to understand G × E. I consider both of these issues in relation to one another to encourage additional research on the development of G × E.
Quality Counts: Developmental Shifts in Associations Between Romantic Relationship Qualities and Psychosocial Adjustment
Authors: Collibee Charlene , Furman Wyndol
Published: August 2015

The present study assessed a developmental task theory of romantic relationships by examining associations between romantic relationship qualities and adjustment across 9 years using a community‐based sample of 100 male and 100 female participants (Mage Wave 1 = 15.83) in a Western U.S. city. Using multilevel modeling, the study examined the moderating effect of age on links between romantic relationship qualities and adjustment. Consistent with developmental task theory, high romantic quality was more negatively associated with internalizing symptoms and dating satisfaction during young adulthood than adolescence. Romantic relationship qualities were also associated with externalizing symptoms and substance use, but the degree of association was consistent across ages. The findings underscore the significance of romantic relationship qualities across development.
Differentiation of ICOS+ and ICOS− recent thymic emigrant regulatory T cells (RTE Tregs) during normal pregnancy, pre-eclampsia and HELLP syndrome
Authors: Wagner M I , Jöst M , Spratte J , Schaier M , Mahnke K , Meuer S , Zeier M , Steinborn A
Published: August 2015

Two different subsets of naturally occurring regulatory T cells (nTregs), defined by their expression of the inducible co-stimulatory (ICOS) molecule, are produced by the human thymus. To examine the differentiation of ICOS+ and ICOS−CD45RA+CD31+ recent thymic emigrant (RTE) Tregs during normal pregnancy and in the presence of pre-eclampsia or haemolysis elevated liver enzymes low platelet (HELLP)-syndrome, we used six-colour flow cytometric analysis to determine the changes in the composition of the ICOS+ and ICOS− Treg pools with CD45RA+CD31+ RTE Tregs, CD45RA+CD31− mature naive (MN) Tregs, CD45RA−CD31+ and CD45RA−CD31− memory Tregs. With the beginning of pregnancy until term, we observed a strong differentiation of both ICOS+ and ICOS−CD45RA+CD31+ RTE, but not CD45RA+CD31− MN Tregs, into CD45RA−CD31− memory Tregs. At the end of pregnancy, the onset of spontaneous term labour was associated with a significant breakdown of ICOS+CD45RA−CD31− memory Tregs. However, in the presence of pre-eclampsia, there was a significantly increased differentiation of ICOS+ and ICOS−CD45RA+CD31+ RTE Tregs into CD45RA−CD31+ memory Tregs, wherein the lacking differentiation into CD45RA−CD31− memory Tregs was partially replaced by the increased differentiation of ICOS+ and ICOS−CD45RA+CD31− MN Tregs into CD45RA−CD31− memory Tregs. In patients with HELLP syndrome, this alternatively increased differentiation of CD45RA−CD31− MN Tregs seemed to be exaggerated, and presumably restored the suppressive activity of magnetically isolated ICOS+ and ICOS− Tregs, which were shown to be significantly less suppressive in pre-eclampsia patients, but not in HELLP syndrome patients. Hence, our findings propose that the regular differentiation of both ICOS+ and ICOS−CD45RA+CD31+ RTE Tregs ensures a healthy pregnancy course, while their disturbed differentiation is associated with the occurrence of pre-eclampsia and HELLP syndrome.
Inter‐device comparison of retinal sensitivity measurements: the CenterVue MAIA and the Nidek MP‐1
Authors: Wong Evan N , Mackey David A , Morgan William H , Chen Fred K
Published: August 2015

Background

Our aim is to compare retinal sensitivity measurements obtained on two microperimeters: the CenterVue MAIA and the Nidek MP‐1.

Design

A prospective study was conducted in a private ophthalmology clinic.

Participants

Seventeen individuals with a range of stable macular function were recruited as participants.

Methods

Microperimetry in one eye with identical test strategy in both devices, with randomized testing order, is used.

Main outcome measures

The main outcome measures include differences in mean sensitivity (MS), point‐wise sensitivity (PWS) and duration. Limits of agreement (LoA) in MS and pooled PWS were calculated. Concordance in scotoma assessment was analysed by kappa (κ) agreement of local defect classification (LDC), LoA in number of scotomatous loci detected and congruence in scotoma localization (CSL).

Results

Median (interquartile range) MS of the MP‐1 and MAIA was 13.3 (5.6–18.1) and 21.2 (14.5–27.0) dB, (P < 0.05). Mean difference in PWS was 7.3 dB (MAIA > MP‐1). Median (interquartile range) duration for the MP‐1 and MAIA was 10′28″ (7′17″–11′53″) and 8′46″ (8′30″–9′06″), (P = 0.21). LoA for MS and pooled PWS was 1.4 to 13.3 dB and −3.9 to 18.5 dB. There was moderate agreement between the devices for LDC (weighted κ = 0.55, P < 0.05). LoA in number of scotomatous loci detected was −13 to 18. CSL varied from 0 to 100% and correlated strongly with increasing scotoma size.

Conclusions

The large LoA and variation in scotoma mapping concordance suggest that the same microperimeter should be used for follow‐up examination. We recommend caution in comparing results derived from different types of microperimeters.
Demographics and ocular biometric characteristics of patients undergoing cataract surgery in Auckland, New Zealand
Authors: Yoon Jinny J , Misra Stuti L , McGhee Charles NJ , Patel Dipika V
Published: August 2015

Background

The aim is to investigate ethnic variation, in presentation and biometric parameters, within the population undergoing cataract surgery in Auckland.

Design

The design is a retrospective study.

Participants

Four thousand nine hundred thirty‐one eyes of 3524 consecutive patients undergoing cataract surgery in Auckland Public Hospital over 18 months were included in the study.

Methods

Analysis of preoperative medical records was performed.

Main Outcome Measures

Age, gender, self‐reported ethnicity, keratometry, anterior chamber depth, axial length and intraocular lens (IOL) power data were collected.

Results

Māori (4.7%) were under‐represented compared with the proportion of Māori attending the eye clinic (5.5%) and in the major patient catchment area (8.2%). People of Māori, Pacific and Indian ethnicities presented at a significantly younger age (66.4, 65.9 and 67.9 years, respectively) than those of Caucasian and Asian ethnicities (76.4 and 71.3 years, respectively, P < 0.001). Advanced cataract was more likely in Pacific peoples and Māori than Caucasians. The mean axial length was longest in Asian eyes (23.83 ± 1.52 mm). The mean anterior chamber depth in the eyes of Pacific peoples (3.20 ± 0.39 mm) was significantly greater than that of Caucasians (3.09 ± 0.42 mm, P = 0.001) and Asians (3.05 ± 0.49 mm, P < 0.001). The mean IOL power in Asian eyes was 19.45D. This was significantly lower than the IOL power required by Caucasian (20.72D, P < 0.001) and Pacific ethnicities (20.61D, P = 0.001). With‐the‐rule astigmatism was highly prevalent in Māori and Pacific peoples, whereas in all other ethnicities, against‐the‐rule astigmatism was more common.

Conclusions

This study identified significant ethnic variation in presentation for cataract surgery and ocular biometric parameters. These data may help identify potential biometric refinements and those at risk of developing ocular morbidities known to be associated with these parameters.
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Authors: Sawyer S.L. , Hartley T. , Dyment D.A. , Beaulieu C.L. , Schwartzentruber J. , Smith A. , Bedford H.M. , Bernard G. , Bernier F.P. , Brais B. , Bulman D.E. , Warman Chardon J. , Chitayat D. , Deladoëy J. , Fernandez B.A. , Frosk P. , Geraghty M.T. , Gerull B. , Gibson W. , Gow R.M. , Graham G.E. , Green J.S. , Heon E. , Horvath G. , Innes A.M. , Jabado N. , Kim R.H. , Koenekoop R.K. , Khan A. , Lehmann O.J. , Mendoza‐Londono R. , Michaud J.L. , Nikkel S.M. , Penney L.S. , Polychronakos C. , Richer J. , Rouleau G.A. , Samuels M.E. , Siu V.M. , Suchowersky O. , Tarnopolsky M.A. , Yoon G. , Zahir F.R. ,   FORGE Canada Consortium,   Care4Rare Canada Consortium, Majewski J. , Boycott K.M.
Published: August 2015

An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES), are identifying the genetic basis of disease for 25–40% of patients. The diagnostic rate is probably influenced by when in the diagnostic process WES is used. The Finding Of Rare Disease GEnes (FORGE) Canada project was a nation‐wide effort to identify mutations for childhood‐onset disorders using WES. Most children enrolled in the FORGE project were toward the end of the diagnostic odyssey. The two primary outcomes of FORGE were novel gene discovery and the identification of mutations in genes known to cause disease. In the latter instance, WES identified mutations in known disease genes for 105 of 362 families studied (29%), thereby informing the impact of WES in the setting of the diagnostic odyssey. Our analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases. What is becoming increasingly clear is that WES will be paradigm altering for patients and families with rare genetic diseases.
The professional humanitarian and the downsides of professionalisation
Authors: James Eric
Published: August 2015

Criticisms lodged at humanitarian relief often include the belief that professionalisation is needed. The problems associated with humanitarianism would end, it is assumed, if the delivery of aid, and relief workers themselves, were more professional and ‘business like’. To explore this further, the paper asks what comprises a profession, and offers four criteria: 1) specialisation of knowledge; 2) establishment of the profession as a livelihood; 3) organisation and institutionalisation; and 4) legitimacy and authority. A model for understanding professionalisation, as developed by the author, is then presented. The analysis compares six other professions against the same criteria to argue that the humanitarian community already constitutes a profession. Finally, three potential downsides of professionalisation are offered: the distance of the relief worker from the beneficiary, barriers to entry into the humanitarian sector, and adding to risk aversion and a decline in innovation. Based on these findings, professionalisation should be approached with some caution.
Cross‐cultural comparisons between the earthquake preparedness models of Taiwan and New Zealand
Authors: Jang Li‐Ju , Wang Jieh‐Jiuh , Paton Douglas , Tsai Ning‐Yu
Published: August 2015

Taiwan and New Zealand are both located in the Pacific Rim where 81 per cent of the world's largest earthquakes occur. Effective programmes for increasing people's preparedness for these hazards are essential. This paper tests the applicability of the community engagement theory of hazard preparedness in two distinct cultural contexts. Structural equation modelling analysis provides support for this theory. The paper suggests that the close fit between theory and data that is achieved by excluding trust supports the theoretical prediction that familiarity with a hazard negates the need to trust external sources. The results demonstrate that the hazard preparedness theory is applicable to communities that have previously experienced earthquakes and are therefore familiar with the associated hazards and the need for earthquake preparedness. The paper also argues that cross‐cultural comparisons provide opportunities for collaborative research and learning as well as access to a wider range of potential earthquake risk management strategies.
Multiple visions of Indonesia's mud volcano: understanding representations of disaster across discursive settings
Authors: Drake Phillip
Published: August 2015

The Lapindo mudflow is one of the most controversial disasters in Indonesian history. Despite its unique biophysical features, most consider the mudflow a social disaster as scientific conflicts about its main trigger have evolved into legal disputes over accountability and rights. This paper examines this ‘trigger debate’, the stakes of scientific contention and the broader social and natural dynamics that shape the terms of this debate. A Latourian impulse drives this analysis, which aims to improve both understandings of—and responses to—complex disasters. This paper also notes that the stakes of representation extend to constructions of its stakeholders, especially to victims. As socionatural disasters become an increasingly common feature of the contemporary world, from mud volcanoes to extreme weather events caused by global warming, it is more important than ever to understand the dynamics of representing disasters and stakeholders.
Morbidity and medication in a large population of individuals with Down syndrome compared to the general population
Authors: Alexander Myriam , Petri Hans , Ding Yingjie , Wandel Christoph , Khwaja Omar , Foskett Nadia
Published: August 2015

Aim

The aim of this study was to describe the incidence of morbidities and the prevalence of medical prescriptions in a large Down syndrome population.

Method

A retrospective cohort study was carried out using the UK Clinical Practice Research Datalink from 1 January 2004 to 31 December 2013. We matched individuals with Down syndrome to randomly selected control participants by practice site, sex, birth year, and recording period.

Results

A total of 6430 individuals with Down syndrome (3009 females, 3421 males) and 19 176 controls (8966 females, 10 210 males) were included in the study. The incidence of cardiovascular disorders, gastrointestinal diseases (incidence rate ratio [IRR] 7.9 at 3 to <6y: yearly prevalence ratio [YPR] for laxatives 4.7), and sleeping disorders (IRR 4.8 in 3 to <6y) was increased in children with Down syndrome versus control participants. New onset of congenital heart malformation, ear diseases, eye disorders, autism, hypothyroidism, diabetes, and obesity were more frequent in childhood and remained elevated in adulthood (overall IRR 35.5, 1.7, 3.1, 4.4, 13.1, 1.3, and 2.6 respectively), whereas the gap widened in adulthood for epilepsy and intellectual disability (IRR 15.2 and 158 respectively, in participants older than 30y). At ≥30 years, the incidence of hypotension and dementia was raised (IRR 3.0 and 92.1 respectively; YPR for dementia drugs: 76.3); and that of hypertension, depression and anxiety was lowered (IRR 0.2, 0.5, and 0.4 respectively).

Interpretation

The profile of newly occurring morbidities in Down syndrome varies across the developmental lifespan.
Latencies from intracranial seizure onset to ictal tachycardia: A comparison to surface EEG patterns and other clinical signs
Authors: Hirsch Martin , Altenmüller Dirk‐Matthias , Schulze‐Bonhage Andreas
Published: August 2015

Objective

Information on the relative timing of electroencephalography (EEG) seizure onset, ictal tachycardia (ITC), and first other clinical seizure manifestations is crucial for an understanding of the potential benefit of ITC‐detection based closed‐loop intervention systems for epilepsy treatment. This study analyzes the temporal relation of ITC, other clinical signs, and seizure onset in relation to intracranial and surface EEG.

Methods

Seventy‐eight seizures with ITC from 13 patients undergoing invasive EEG recordings with simultaneous recordings of electrocardiography (ECG), intracranial EEG (iEEG) and surface EEG, and video recordings to determine clinical onset were analyzed. Latencies for ITC were calculated for thresholds of 100 bpm and for a 20% heart rate increase above baseline obtained 60 s prior to seizure onset on iEEG. Patient‐based, seizure‐based, and seizure origin–based analyses were performed.

Results

Mean latencies between seizure onset in invasive EEG and the following onset of ITC in the seizure‐ and patient‐based analysis for both thresholds varied between 21.6 and 23.7 s, showing that ITC is an ictal rather a preictal phenomenon. In 10 of 13 patients and in 56 of 78 seizures, at least one of the thresholds for ITC was crossed before any other clinical sign. In the majority of cases, ITC also preceded ictal onset as determined in surface EEG. Latencies to ictal tachycardia were shorter for hippocampal than for extrahippocampal temporal seizure onset. ITC occurred earlier in right than in left temporal seizures.

Significance

iEEG preceded other seizure manifestations, but ictal tachycardia was an early sign particularly in mesial temporal and in right temporal seizure onset and often preceded not only other clinical manifestations but also first visible patterns in surface EEG. Detection of ictal tachycardia was thus the best noninvasively assessed marker for closed‐loop interventions in this multimodally assessed patient group.
Association between sesamoiditis, subclinical ultrasonographic suspensory ligament branch change and subsequent clinical injury in yearling Thoroughbreds
Authors: Plevin S. , McLellan J. , O'Keeffe T.
Published: August 2015

Reasons for performing study

Sesamoiditis is a common radiological finding in yearling Thoroughbreds. The condition is believed to be associated with suspensory ligament branch injury (SLBI), which is known to affect racing performance. The presence of subclinical suspensory ligament branch change (SSLBC) in untrained yearlings has not been investigated. Associations between sesamoiditis, SSLBC and subsequent SLBI would allow more accurate prognoses to be made regarding the development of SLBI. They could also provide opportunity for intervention and prevention of SLBI.

Objectives

To test our hypotheses that untrained yearling Thoroughbreds with sesamoiditis would be more likely to have ultrasonographic findings of SSLBC and those horses with concurrent sesamoiditis and SSLBC would be more likely to develop clinical suspensory ligament branch injury with training.

Study design

Prospective, cohort, observational study.

Methods

Yearling Thoroughbreds located at a single training centre were evaluated at the onset of their training careers and for the next 9 months. Radiographic and ultrasonographic examination of bilateral forelimb proximal sesamoid bones and suspensory ligament branches was performed.

Results

Fifty horses were eligible, resulting in 200 forelimb sesamoid/suspensory ligament branch pairs. A significant relationship existed between possibly significant (PS) sesamoiditis and PS SSLBC (P<0.001). The odds ratio of sesamoids with PS sesamoiditis also demonstrating concurrent PS SSLBC was 5.1 (95% confidence interval 2.68–9.70, P<0.001). A significant relationship also existed between the concurrent presence of PS sesamoiditis and PS SSLBC and the subsequent development of clinical signs of SLBI (P<0.001, odds ratio 11.7, 95% confidence interval 4.1–33.4).

Conclusions

The associations identified in this study highlight the importance of ultrasonographic examination of suspensory ligament branches in horses with PS sesamoiditis. This information should allow more accurate prognostic advice regarding potential SLBI development and also provide opportunities for intervention and prevention of clinical SLBI.

The Summary is available in Chinese ‐ see Supporting information
Human hair follicle organ culture: theory, application and perspectives
Authors: Langan Ewan A. , Philpott Michael P. , Kloepper Jennifer E. , Paus Ralf
Published: August 2015

For almost a quarter of a century, ex vivo studies of human scalp hair follicles (HFs) have permitted major advances in hair research, spanning diverse fields such as chronobiology, endocrinology, immunology, metabolism, mitochondrial biology, neurobiology, pharmacology, pigmentation and stem cell biology. Despite this, a comprehensive methodological guide to serum‐free human HF organ culture (HFOC) that facilitates the selection and analysis of standard HF biological parameters and points out both research opportunities and pitfalls to newcomers to the field is still lacking. The current methods review aims to close an important gap in the literature and attempts to promote standardisation of human HFOC. We provide basic information outlining the establishment of HFOC through to detailed descriptions of the analysis of standard read‐out parameters alongside practical examples. The guide closes by pointing out how serum‐free HFOC can be utilised optimally to obtain previously inaccessible insights into human HF biology and pathology that are of interest to experimental dermatologists, geneticists, developmental biologists and (neuro‐) endocrinologists alike and by highlighting novel applications of the model, including gene silencing and gene expression profiling of defined, laser capture‐microdissected HF compartments.
Environmental costs and benefits of growingMiscanthusfor bioenergy in theUK
Authors: McCalmont Jon P. , Hastings Astley , McNamara Niall P. , Richter Goetz M. , Robson Paul , Donnison Iain S. , Clifton‐Brown John
Published: August 2015

Planting the perennial biomass cropMiscanthusin theUKcould offset 2–13 Mt oil eq. yr−1, contributing up to 10% of current energy use. Policymakers need assurance that upscalingMiscanthusproduction can be performed sustainably without negatively impacting essential food production or the wider environment. This study reviews a large body ofMiscanthusrelevant literature into concise summary statements. PerennialMiscanthushas energy output/input ratios 10 times higher (47.3 ± 2.2) than annual crops used for energy (4.7 ± 0.2 to 5.5 ± 0.2), and the total carbon cost of energy production (1.12 g CO2‐C eq. MJ−1) is 20–30 times lower than fossil fuels. Planting on former arable land generally increases soil organic carbon (SOC) withMiscanthussequestering 0.7–2.2 Mg C4‐C ha−1 yr−1. Cultivation on grassland can cause a disturbance loss ofSOCwhich is likely to be recovered during the lifetime of the crop and is potentially mitigated by fossil fuel offset. N2O emissions can be five times lower under unfertilizedMiscanthusthan annual crops and up to 100 times lower than intensive pasture. Nitrogen fertilizer is generally unnecessary except in low fertility soils. Herbicide is essential during the establishment years after which natural weed suppression by shading is sufficient. Pesticides are unnecessary. Water‐use efficiency is high (e.g. 5.5–9.2 g aerialDM(kg H2O)−1, but high biomass productivity means increased water demand compared to cereal crops. The perennial nature and belowground biomass improves soil structure, increases water‐holding capacity (up by 100–150 mm), and reduces run‐off and erosion. Overwinter ripening increases landscape structural resources for wildlife. Reduced management intensity promotes earthworm diversity and abundance although poor litter palatability may reduce individual biomass. Chemical leaching into field boundaries is lower than comparable agriculture, improving soil and water habitat quality.
Neuronal Nitric Oxide Synthase (nNOS, NOS1) rs693534 and rs7977109 Variants and Risk for Migraine
Authors: García‐Martín Elena , Martínez Carmen , Serrador Mercedes , Alonso‐Navarro Hortensia , Navacerrada Francisco , García‐Albea Esteban , Agúndez José A.G. , Jiménez‐Jiménez Félix Javier
Published: August 2015

Background/Objectives

Many biochemical, pharmacological, neuropathological, and experimental data suggest a possible role of nitric oxide in the pathogenesis of migraine. We investigated the possible association between functional single nucleotide polymorphisms (SNPs) in the neuronal nitric oxide synthase gene (NOS1 or nNOS; chromosome 12q24.22) and the risk for migraine.

Methods

We studied the frequency of the of rs7977109 and rs693534 genotypes and allelic variants in 197 patients with migraine and 308 healthy controls using a TaqMan‐based qPCR assay. As a secondary analysis, we studied the possible influence of gender, age at onset of migraine, positive family history of migraine, and presence or absence of aura on the genotypes frequency.

Results

The frequencies of rs7977109 and rs693534 genotypes and allelic variants were not associated with the risk for migraine with OR for minor alleles = 0.94 (95% CI 0.72‐1.23) and = 0.88 (0.68‐1.15), respectively, and the lack of association was not influenced by gender, age at onset of migraine, positive family history of migraine, and presence or absence of aura.

Conclusion

NOS1 rs7977109 and rs693534 genotypes and allelic variants are not associated with the risk for migraine in Caucasian Spanish people.