Development and validation of an environmental DNA protocol to detect an invasive Caribbean freshwater fish, the guppy (Poecilia reticulata)

I.S. and C.D.S. contributed to study conception and design. I.S. secured funding for assay development, testing, and field survey work. I.S., K.-A.B., and S.B. conducted field surveys in Jamaica; I.S. and J.L.W. oversaw collection of positive and negative control samples in Oklahoma. Assay design was undertaken by E.D.H. DNA extractions, in vitro assay tests, and assessment of assay performance was overseen by S.N.S. Data analysis and summary of qPCR screening results was performed by S.N.S. and C.D.S., with contributions from J.L.W. The first draft of the manuscript was written by S.N.S., with contributions and reviews by C.D.S., I.S., J.L.W., E.D.H., K.-A.B., and S.B. All authors read and approved the final manuscript.We describe the development and validation of a qPCR assay to detect Poecilia reticulata, a highly invasive species of freshwater fish invasive to the Caribbean islands, through environmental DNA (eDNA) sampling. Originating from Trinidad, this species is invasive and detrimental to countless native tropical fish communities. A qPCR assay, consisting of a set of primers and a fluorescent probe, amplifying a 214 base pair target region of the mitochondrial Cytochrome B gene was designed for P. reticulata from existing DNA sequence data. The assay was assessed for target specificity, with no evidence of amplification in closely related or sympatrically distributed non-target species. In vitro tests indicate that the assay consistently detects P. reticulata down to concentrations of 2.0 × 10−5 ng/μl. The developed assay provides a new, practical tool for monitoring freshwater habitats throughout the Caribbean, allowing for early and rapid detection of invasive fish species of conservation concern.This research was supported by the University of Oklahoma, the Sam Noble Oklahoma Museum of Natural History, and the University of the West Indies, Mona Campus. Research was conducted in accordance with field permits in Jamaica (NEPA#18/27) and the University of Oklahoma Institutional Animal Care and Use Committee (IACUC) protocols R17-031 and R19-006. The authors thank M. Gordon, H. Bennett, E. Bennett and S.-M. Bennett-Monroe for field and laboratory assistance. Funding support for this work was provided by the University of Oklahoma and the Sam Noble Oklahoma Museum of Natural History to C.D.S and I.S.Ye

Cerebral small vessel disease genomics and its implications across the lifespan

White matter hyperintensities (WMH) are the most common brain-imaging feature of cerebral small vessel disease (SVD), hypertension being the main known risk factor. Here, we identify 27 genome-wide loci for WMH-volume in a cohort of 50,970 older individuals, accounting for modification/confounding by hypertension. Aggregated WMH risk variants were associated with altered white matter integrity (p = 2.5×10-7) in brain images from 1,738 young healthy adults, providing insight into the lifetime impact of SVD genetic risk. Mendelian randomization suggested causal association of increasing WMH-volume with stroke, Alzheimer-type dementia, and of increasing blood pressure (BP) with larger WMH-volume, notably also in persons without clinical hypertension. Transcriptome-wide colocalization analyses showed association of WMH-volume with expression of 39 genes, of which four encode known drug targets. Finally, we provide insight into BP-independent biological pathways underlying SVD and suggest potential for genetic stratification of high-risk individuals and for genetically-informed prioritization of drug targets for prevention trials.Peer reviewe

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Promoting student learning with online videos: A research agenda

Gen Y students are digital natives (Prensky 2001) who learn in complex and diverse ways, with a variety of learning styles apparent in any given course. This paper proposes a web 2.0 conceptual learning solution–online student videos–to respond to different learning styles that exist in the classroom

Balancing entertainment and behaviour value: M-games as a social marketing agent of change

In a marketplace where millions of dollars are spent on the design of mobile games (m-games), social marketers are now using this technology as a tool for behaviour change. Despite high expenditure by governments and non-profits on social marketing m-games, little is known about their effectiveness in terms of creating value. Value creation has been demonstrated to have an important impact on satisfaction and behaviour. This paper reports the results of a qualitative study involving four focus groups with 23 participants to reveal two categories of experiential value, entertainment and behaviour. Additionally, it was discovered that entertainment could be characterised by amusement and social value dimensions. Whereas, behaviour could be made up of information, simulation and distraction value dimensions. The categories of value, as well as the dimensions of information, simulation and distraction are entirely new to the social marketing literature and thus represents a unique contribution to social marketing

How do gamified mobile apps influence customer value, satisfaction and behavioural intentions to cease smoking?

Providing customers greater value through technological and mobile services has been an evolving topic in the services marketing literature (Gummerus et al., 2011; Pihlström et al., 2008; van Riel et al., 2005). In particular, there is growth in the development of mobile phone applications (apps) as part of the service mix for transformative service programs, such as mental health and wellbeing (Schuster, et al. 2013), as well as smoking (Abroms et al., 2013). However, what is yet to be explained is the influence of the relatively new phenomenon of gamification (the use of game like design features) in these apps on key service outcomes, such as customer value, satisfaction and behavioural intentions. The current research seeks to address this gap in the context of mobile apps designed to encourage smoking cessation

Investigating the impact of learning styles on student behaviors towards creating reflective videos: An analysis of QUTopia TV

Past research has advocated incorporating active learning approaches to motivate students, the application of videos as instructional technology, and reflective journaling as assignments to enhance individual learning effectiveness. However, even though past literature has stressed the importance of developing students’ reflective ability (Chen et al. 2008, 2010), “the best manner in which to improve learners’ reflective ability has yet to be fully elucidated” (Hsieh et al. 2011, p. 1195). Furthermore, learning style theory suggests that reflective learning may differ based on students’ learning styles. This study investigates the impact of learning styles on watching (passive value) vs. creating (active value) reflective videos on a university-based video platform called QUTopia TV. We draw on technology acceptance models, learning style theory and literature on reflective learning to develop the theoretical model which is then tested empirically using structural equation modeling. Our findings demonstrate that different learning styles moderate the relationship of technology factors and students’ attitude and intentions to either view or create reflective videos

Investigating the impact of learning styles on student behaviors towards creating reflective videos: An analysis of QUTopia TV

Past research has advocated incorporating active learning approaches to motivate students, the application of videos as instructional technology, and reflective journaling as assignments to enhance individual learning effectiveness. However, even though past literature has stressed the importance of developing students’ reflective ability (Chen et al. 2008, 2010), “the best manner in which to improve learners’ reflective ability has yet to be fully elucidated” (Hsieh et al. 2011, p. 1195). Furthermore, learning style theory suggests that reflective learning may differ based on students’ learning styles. This study investigates the impact of learning styles on watching (passive value) vs. creating (active value) reflective videos on a university-based video platform called QUTopia TV. We draw on technology acceptance models, learning style theory and literature on reflective learning to develop the theoretical model which is then tested empirically using structural equation modeling. Our findings demonstrate that different learning styles moderate the relationship of technology factors and students’ attitude and intentions to either view or create reflective videos